Gene: Aars1 MGI:2384560

Registered for phenotyping at IMPC

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

Gene Summary

Name:

alanyl-tRNA synthetase 1

Synonyms:

Aars

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Aars1 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 Aars1 (6 diseases)
Human diseases predicted to be associated with Aars1 (644 diseases)

The table below shows human diseases associated to Aars1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Cerebral atrophy, Difficulty walking, Abnormality of coordinat...	ORPHA:442835
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Difficulty walking, Dystonia, Sensory ataxia, Rigidity	OMIM:619661
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Spasticity, Trichorrhexis nodosa, Ankle clonus, Babinski sign, Crani...	OMIM:619691
Trichothiodystrophy	Diffuse cerebellar atrophy, Cerebral cortical atrophy, Spasticity, Aplasia/Hypoplasia of the nail...	ORPHA:33364
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Spasticity, Cerebral atrophy, Chorea, Limb dystonia	OMIM:616339
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal sensory impairment	OMIM:613287

The table below shows human diseases predicted to be associated to Aars1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance, Medial flaring of the eyebrow	ORPHA:1168
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor, Premature graying of hair	OMIM:190200
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Cerebellar hypoplasia, Tremor, Ataxia	OMIM:213000
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Ataxia, Sparse or absent eyelashes, Gait disturbance, Pili torti, Aplasia/Hypoplasia of the eyebr...	ORPHA:2891
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c...	OMIM:610185
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Thick eyebrow, Gait ataxia, L...	OMIM:616127
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk...	OMIM:615768
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Spasticity, Premature graying of hair, Tremor, Rigidity, Cerebellar hy...	ORPHA:33445
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab...	ORPHA:101110
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U...	ORPHA:314978
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Dystonia, Babinski sign, Synophrys, Clumsin...	ORPHA:453521
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
L-Ferritin Deficiency	Alopecia	OMIM:615604
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab...	OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Dystonia 23	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto...	OMIM:614860
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella...	ORPHA:423275
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext...	OMIM:615362
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro...	ORPHA:464440
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady...	OMIM:302500
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Intellectual Developmental Disorder, X-Linked 104	Cerebral cortical atrophy, Spasticity, Frontal upsweep of hair, Tremor, Ataxia	OMIM:300983
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ...	OMIM:615924
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal sensory impairment, Tremor	OMIM:614369
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dystonia, Choreoathetosis	OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo...	OMIM:617225
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyr...	OMIM:617145
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Spinal Muscular Atrophy, Jokela Type	Difficulty walking, Distal sensory impairment, Tremor, Fasciculations	OMIM:615048
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Gait disturbance, Fine hair, Ataxia	ORPHA:1174
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par...	OMIM:213600
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia	OMIM:618387
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent...	OMIM:614831
Kerion Celsi	Alopecia	ORPHA:499
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr...	OMIM:618090
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticit...	OMIM:617916
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ...	OMIM:600363
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ...	OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent...	OMIM:615386
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C...	ORPHA:397946
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Alopecia, Hypopigmentation of hair	ORPHA:1067
Spinocerebellar Ataxia Type 17	Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,...	ORPHA:98759
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Spasticity, Cerebral atrophy, Head tremor, Impaired vibration sensation in the lower limbs, Gait ...	ORPHA:352641
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R...	ORPHA:306692
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair	OMIM:619692
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a...	ORPHA:79263
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ...	OMIM:300423
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos...	OMIM:620158
Spinocerebellar Ataxia 29	Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C...	OMIM:117360
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At...	OMIM:619028
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab...	ORPHA:216873
Oliver-Mcfarlane Syndrome	Alopecia, Distal amyotrophy, Long eyelashes, Long eyebrows, Sparse hair	OMIM:275400
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun...	OMIM:607346
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ...	ORPHA:314632
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at...	OMIM:616719
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston...	ORPHA:71517
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m...	ORPHA:248
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ...	ORPHA:98764
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ...	OMIM:600116
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Premature graying of hair	ORPHA:66633
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia	OMIM:620270
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of finger, Fingernail dy...	ORPHA:2251
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to...	ORPHA:391411
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S...	ORPHA:129
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga...	OMIM:619862
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance...	OMIM:210000
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp...	OMIM:617810
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Abnormal heart morphology, Nail dystrophy, Heart murmur, Congenital abnormal ...	ORPHA:1867
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired...	ORPHA:137898
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist...	ORPHA:276435
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Camptodactyly, ...	ORPHA:88630
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation	OMIM:619405
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ...	ORPHA:139485
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Gait ataxia, Trem...	ORPHA:363400
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi...	OMIM:609270
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Ca...	OMIM:605676
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs...	ORPHA:2890
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:620174
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Moynahan Syndrome	Alopecia, Sparse hair	ORPHA:2574
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ...	OMIM:208920
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101075
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair	ORPHA:1882
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Naxos Disease	Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Subungual hyperkerat...	OMIM:601214
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li...	OMIM:183090
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory...	OMIM:302800
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych...	OMIM:619816
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:98773
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto...	OMIM:606159
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia	ORPHA:210128
Piebald Trait With Neurologic Defects	White forelock, Ataxia	OMIM:172850
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia	OMIM:618637
Spastic Paraplegia 79B, Autosomal Recessive	Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Tetrapare...	OMIM:615491
Alopecia Totalis	Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails	ORPHA:700
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Camptodactyly of finger, Nail dysplasia	OMIM:212360
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
X-Linked Charcot-Marie-Tooth Disease Type 4	Gait disturbance, Impaired pain sensation, Tremor, Ataxia	ORPHA:101078
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Hemiparkinsonism-Hemiatrophy Syndrome	Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B...	ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Lopes-Maciel-Rodan Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor...	OMIM:617435
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Dystonia 12	Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait	OMIM:128235
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne...	ORPHA:2590
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Nail dysplasia, Joint contra...	OMIM:615704
Spinocerebellar Ataxia Type 36	Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Limb myoclonus, Hand trem...	ORPHA:276198
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Diffuse cer...	ORPHA:330050
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria...	ORPHA:93952
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Flexion contracture, Sparse scalp ...	ORPHA:2850
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ...	ORPHA:101077
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, Tremor, R...	OMIM:618877
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia	OMIM:612016
Hsd10 Disease	Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidity, Gait disturban...	ORPHA:391417
Jaberi-Elahi Syndrome	Sparse eyebrow, Broad-based gait, Fine hair, Inability to walk, Cerebellar vermis atrophy, Gait a...	OMIM:617988
Sick Sinus Syndrome 2	Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom...	OMIM:163800
Hemochromatosis, Type 1	Alopecia, Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Cardiomegaly, Ar...	OMIM:235200
Spinocerebellar Ataxia 6	Cerebral cortical atrophy, Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of...	OMIM:183086
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair	ORPHA:3363
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni...	ORPHA:329284
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A...	OMIM:300623
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Lo...	OMIM:607694
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r...	ORPHA:53351
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor	OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t...	OMIM:617013
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,...	OMIM:606693
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Head tremor, Myoclonus, Axial ...	ORPHA:420492
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Small nail, Tremor, Spastic tetraparesis	OMIM:619470
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Babinsk...	OMIM:616505
4H Leukodystrophy	Cerebellar atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive ...	ORPHA:289494
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu...	ORPHA:542310
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Ventricular septal defect, Cerebellar hypoplasia, Atrial s...	ORPHA:75389
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ...	ORPHA:352649
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy...	ORPHA:529665
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Congenital alopecia totalis, Absent hair, Cardiomyopathy, Absent toenail, Abse...	ORPHA:158687
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Pontocerebellar atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Abnor...	OMIM:618060
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R...	OMIM:300894
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Camptodactyly of finger, Fragile nails	OMIM:226650
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra...	ORPHA:363654
Inherited Creutzfeldt-Jakob Disease	Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri...	ORPHA:282166
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant...	OMIM:159950
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Rhizomelic Chondrodysplasia Punctata, Type 1	Cerebral cortical atrophy, Alopecia, Flexion contracture, Severe failure to thrive	OMIM:215100
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit...	ORPHA:99750
Ataxia With Vitamin E Deficiency	Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,...	ORPHA:96
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Failure to thrive, Sparse eyelashes, Bradycardia	OMIM:610768
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Flexion contracture	OMIM:203550
Keutel Syndrome	Alopecia, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Erythrokeratodermia Variabilis	Abnormal hair morphology, Alopecia, Abnormality of the nail, Generalized hirsutism	ORPHA:317
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia, Brain atrophy	OMIM:619092
Ataxia-Telangiectasia	Spasticity, Premature graying of hair, Tremor, Gait disturbance, Ataxia, Hypopigmentation of hair	ORPHA:100
Myopathy, Mitochondrial, And Ataxia	Difficulty walking, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetria, Tremor,...	OMIM:617675
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Alopecia totalis, Ventricular septal defect, Persistent fetal circul...	OMIM:618775
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Alopecia, Mitral regurgitation	OMIM:301080
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Atypical Rett Syndrome	Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ...	ORPHA:3095
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Flexion contracture, Sparse hair	OMIM:242300
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor...	OMIM:612953
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cerebral cortical atrophy, Alopecia, Small nail, Ventricular septal defect, Absent eyelashes, Chi...	ORPHA:166035
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia	OMIM:603472
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai...	ORPHA:90117
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio...	ORPHA:240085
Spinocerebellar Ataxia Type 42	Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t...	ORPHA:458803
Johnson Neuroectodermal Syndrome	Alopecia, Failure to thrive, Tetralogy of Fallot, Absent eyelashes, Facial palsy, Absent eyebrow,...	ORPHA:2316
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Broad-based gait, Global brain atrophy, Generalized dystonia, Inability to wa...	OMIM:312080
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ...	OMIM:612843
Late-Infantile/Juvenile Krabbe Disease	Spastic paraparesis, Acroparesthesia, Difficulty walking, Hemiplegia, Spastic diplegia, Tremor, I...	ORPHA:206443
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary...	ORPHA:251393
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Abnormality of e...	OMIM:614298
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Adams-Oliver Syndrome	Alopecia, Gastrointestinal hemorrhage, Failure to thrive, Hypoplastic fingernail, Tetralogy of Fa...	ORPHA:974
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Cerebral atrophy, Difficulty walking, Abnormality of coordinat...	ORPHA:442835
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Alopecia, Cardiomyopathy, Bundle branch block, Myositis,...	ORPHA:93672
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Pontocerebellar atroph...	OMIM:606002
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or...	ORPHA:420485
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Tremor, Ataxia, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Poor fine ...	ORPHA:36387
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Sinus tachycardia, Failure to thrive, Nail dystrophy, Mitral regurgitat...	OMIM:614008
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park...	OMIM:619911
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Alopecia Universalis	Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail	ORPHA:701
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena...	ORPHA:2930
Leigh Syndrome	Alopecia, Skeletal muscle atrophy, Cerebellar atrophy, Failure to thrive, Congestive heart failur...	ORPHA:506
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Difficulty walking, Dystonia, Sensory ataxia, Rigidity	OMIM:619661
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbalance, Postural tre...	ORPHA:64753
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Central nervous system degeneration, Cardiomyopathy, Shoulder girdle muscle weakness, M...	ORPHA:98907
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Tremor, Cerebellar hypoplasia, Hypertonia, Ataxia	OMIM:619556
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair	ORPHA:3051
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Tremor, Dystonia, Babins...	OMIM:300055
Flynn-Aird Syndrome	Cerebral cortical atrophy, Alopecia, Cachexia, Skeletal muscle atrophy	ORPHA:2047
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Neuroferritinopathy	Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L...	ORPHA:157846
Renpenning Syndrome	Alopecia, Abnormal hairshaft morphology, Skeletal muscle atrophy, Thin eyebrow, Cachexia	ORPHA:3242
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Diffuse cerebral atrophy, Limb hypertoni...	OMIM:617710
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Spasticity, Trichorrhexis nodosa, Ankle clonus, Babinski sign, Crani...	OMIM:619691
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Skeletal muscle hypertrophy	OMIM:600705
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Adams-Oliver Syndrome 2	Alopecia, Small nail, Cerebral atrophy, Low anterior hairline, Cerebellar hypoplasia, Limb hypert...	OMIM:614219
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Corneal ne...	OMIM:158310
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Classic Phenylketonuria	Hemiplegia, Paraplegia, Tremor, Hypertonia, Hypopigmentation of hair	ORPHA:79254
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Atrial septal defect, Pulmonic stenosis	OMIM:618282
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign	ORPHA:477673
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Alopecia, Myocardial infarction, Congestive heart failure	OMIM:176670
Spastic Paraplegia 9A, Autosomal Dominant	Spastic paraplegia, Impaired vibratory sensation, Resting tremor, Abnormal upper motor neuron mor...	OMIM:601162
Mohr-Tranebjaerg Syndrome	Shuffling gait, Global brain atrophy, Generalized dystonia, Inability to walk, Tremor, Ankle clon...	ORPHA:52368
Saccharopinuria	Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia	ORPHA:3124
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign, Distal sensory impairment...	ORPHA:206594
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Premature graying of hair, ...	ORPHA:363618
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Alopecia, Skeletal muscle atrophy	OMIM:612079
Bathing Suit Ichthyosis	Alopecia, Sparse hair, Nail dystrophy, Multiple joint contractures	ORPHA:100976
Myopathy With Extrapyramidal Signs	Difficulty walking, Cerebellar dysplasia, Chorea, Tremor, Abnormality of extrapyramidal motor fun...	OMIM:615673
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Olmsted Syndrome 2	Alopecia universalis, Sparse hair, Flexion contracture of digit, Woolly hair	OMIM:619208
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T...	OMIM:618056
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Difficulty walking, Dysmetria, Tremor, Cerebellar hypoplasia, Thick ...	ORPHA:502423
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia	ORPHA:70594
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Fine hair	ORPHA:1839
Giant Cell Arteritis	Vasculitis, Alopecia, Epistaxis, Double outlet right ventricle with subpulmonary ventricular sept...	ORPHA:397
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem...	OMIM:619574
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T...	OMIM:615530
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Akinesia, Limb ataxia, Gait ataxia, Tremor, Rigidit...	ORPHA:48818
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Kury-Isidor Syndrome	Alopecia, Ventricular septal defect, Hypertrichosis	OMIM:619762
Spontaneous Periodic Hypothermia	Gait disturbance, Tremor, Ataxia	ORPHA:29822
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Trichotillomania	Alopecia	OMIM:613229
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Myopathy, Hypoplastic fingernail	ORPHA:257
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi...	ORPHA:240071
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Alopecia, Sparse eyelashes	OMIM:616367
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contractu...	OMIM:614594
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Abnormal cerebellum morphology, Tremor	OMIM:190310
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Tricuspid regurgitation, Mitr...	OMIM:261990
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis	OMIM:617664
Johanson-Blizzard Syndrome	Alopecia, Failure to thrive, Abnormal hair pattern, Abnormal cardiac septum morphology, Dextrocardia	ORPHA:2315
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Alopecia, Hypertension, Hirsutism	OMIM:615830
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia, ...	ORPHA:765
Myoclonic-Astatic Epilepsy	Frontal balding, Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait	ORPHA:1942
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Colchicine Poisoning	Hypotension, Alopecia, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypo...	ORPHA:31824
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Distal amyotrophy, Cerebellar atrophy, Hypoplasia of the pons, Parietal cortical atroph...	ORPHA:412057
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair	ORPHA:177
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Onycholysis	ORPHA:525
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Cerebral cortical atrophy, Alopecia, Supernumerary nipple, Cerebellar hypoplasia, Truncal obesity...	ORPHA:3224
Chanarin-Dorfman Syndrome	Alopecia, Myopathy	OMIM:275630
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait	ORPHA:209335
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Menkes Disease	Alopecia, Sparse hair, Intracranial hemorrhage, Brittle hair	OMIM:309400
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism, Cardiomegaly, Left ventricular hypertrophy, Atria...	ORPHA:79330
Encephalocraniocutaneous Lipomatosis	Alopecia, Ventricular septal defect, Cerebellar hypoplasia, Subvalvular aortic stenosis, Atrial s...	OMIM:613001
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Abnormal cerebellum morphology, Tremor, B...	ORPHA:447753
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Alopecia, Myositis, Pulmonary arterial hypertension, Myocarditis, Pe...	ORPHA:809
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa...	OMIM:613280
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Cerebral atrophy, Tremor, Spastic tetraplegia, Choreoathetosis	OMIM:612164
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H...	ORPHA:978
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Failure to thrive, Nail dystrophy, Cerebellar hypoplasia, Sparse hair	OMIM:616353
Pediatric Systemic Lupus Erythematosus	Myositis, Alopecia, Pericardial effusion, Raynaud phenomenon	ORPHA:93552
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Systemic Sclerosis	Alopecia, Intestinal bleeding, Right ventricular failure, Interstitial cardiac fibrosis, Telangie...	ORPHA:90291
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail	ORPHA:79394
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Monosomy 18P	Low posterior hairline, Alopecia, Hypertension	ORPHA:1598
Gomez-Lopez-Hernandez Syndrome	Cerebellar vermis hypoplasia, Alopecia, Fusion of the cerebellar hemispheres, Rhombencephalosynap...	OMIM:601853
Tay-Sachs Disease	Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Lary...	ORPHA:845
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Neuronal ...	OMIM:168600
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Lacunar stroke, Transient ischemic attack, Alopecia, Brain atrophy	OMIM:600142
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati...	OMIM:620327
Sézary Syndrome	Alopecia, Nail dystrophy, Tremor	ORPHA:3162
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Incontinentia Pigmenti	Cerebral cortical atrophy, Alopecia, Ridged fingernail, Dystrophic toenail, Supernumerary nipple,...	ORPHA:464
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Speech apraxia, Chorea, Inability to wa...	OMIM:615356
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Cerebellar hypoplasia,...	ORPHA:1647
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy...	OMIM:168601
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare...	OMIM:105210
Adrenoleukodystrophy	Neurodegeneration, Alopecia, Lower limb muscle weakness	OMIM:300100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Alopecia, Nail dystrophy, Nail dysplasia, Cachexia	OMIM:175500
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Alopecia, Small nail, Supernumerary nipple, Tetral...	OMIM:100300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Gait imbalance, Myoclonus, Tremor, Ataxia, Hypopigmentation of hair	ORPHA:98794
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Multiple joint contractures, Low posterior hairline, Supraventricular arrhythmia, Small...	ORPHA:2959
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkins...	OMIM:616840
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Fine hair, Premature graying of hair, Hemiplegia, Nail dystrophy, Tremor, Abnormality...	OMIM:612199
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Paronychia, Alopecia of scalp, Tremor, Ataxia	OMIM:201100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Failure to thrive, Cerebral atrophy, Sparse hair, Fragile nails	OMIM:242150
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Cerebellar vermis hypoplasia, Tremor, Oculomotor apraxia, Gait disturbance...	ORPHA:220497
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Myoclo...	ORPHA:199351
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy	OMIM:618373
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Olivopontocerebellar atrophy, Babinski sign, Parkinsonism, A...	OMIM:146500
Distal Deletion 19P	Alopecia, Thick eyebrow, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atr...	ORPHA:96129
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebral cortical atrophy, Cerebellar atrophy, Cerebellar hypoplasia, Patchy alopecia, Sparse hai...	OMIM:617763
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Global brain atrophy, Neurodegeneration, Akinesia, Cerebral degenerati...	OMIM:234200
Joubert Syndrome	Highly arched eyebrow, Cerebellar vermis hypoplasia, Tremor, Oculomotor apraxia, Gait disturbance...	ORPHA:475
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Ataxia-Telangiectasia	Dysdiadochokinesis, Abnormal hair morphology, Inability to walk, Myoclonus, Intention tremor, Tre...	OMIM:208900
Ane Syndrome	Alopecia, Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy	ORPHA:157954
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Cerebral cortical atrophy, Alopecia, Cerebral atrophy, Tricuspid valve pro...	ORPHA:2396
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism, Increased body weight, Proximal amyotrophy, Abdominal obesity, Hypertension	ORPHA:189427
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy...	ORPHA:2309
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Polyendocrine-Polyneuropathy Syndrome	Cerebellar hypoplasia, Proximal muscle weakness in lower limbs, Alopecia	ORPHA:453533
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Small nail, Thin nail	OMIM:242100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Alopecia, Telangiectasia of extensor sur...	OMIM:137940
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Dystonia, Neuronal loss in cen...	ORPHA:683
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Large for gestational age, Hypoplastic toenails, Sparse eye...	ORPHA:544488
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Dilated f...	ORPHA:572798
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Tyrosinemia Type 2	Abnormality of the nail, Tremor, Ataxia	ORPHA:28378
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Premature graying of hair, Budd-Chiari syndrome, Ridged nail, Nail dystrophy, Cerebella...	OMIM:127550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Tetraparesis, Tremor, Rigidity, Cerebellar edema, Torticollis, Ataxia, Brai...

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