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Gene: Aars1 MGI:2384560

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Not currently registered for phenotyping at IMPC

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

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... ORPHA:442835
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Sensory ataxia, Dystonia OMIM:619661
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Trichorrhexis nodosa, Head titubation, Babinski sign, Spastic diplegia, Ankle clo... OMIM:619691
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Diffuse cerebellar atroph... ORPHA:33364
Developmental And Epileptic Encephalopathy 29
Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Spasticity 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 Similarity of
phenotypes		 Matching phenotypes Source
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Ataxia-Oculomotor Apraxia Type 1
Medial flaring of the eyebrow, Ataxia, Gait disturbance ORPHA:1168
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... OMIM:617018
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Ataxia, Abnormality of hair texture, Sparse or absent eyelashes, Gait disturbance, Pili torti, Ap... ORPHA:2891
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Synophrys, ... OMIM:616127
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Subcortical cerebr... ORPHA:33445
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Cerebellar vermis hypoplasia, Synophrys, Babinski sign, Slurred speech, Unsteady gait, ... ORPHA:453521
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
L-Ferritin Deficiency
Alopecia OMIM:615604
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... OMIM:613642
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Candidiasis, Familial, 1
Alopecia OMIM:114580
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... OMIM:302500
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Frontal upsweep of hair, Spasticity, Cerebral cortical atrophy OMIM:300983
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... OMIM:615924
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Cerebral cortical atrophy OMIM:300438
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
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
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Failure to thrive, Cong... OMIM:302060
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Ataxia, Gait disturbance, Fine hair ORPHA:1174
Spastic Paraplegia Type 7
Cerebellar atrophy, Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscl... ORPHA:99013
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait OMIM:618387
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Kerion Celsi
Alopecia ORPHA:499
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia,... OMIM:617916
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... OMIM:600363
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Abnormality of the mitochondrion, Hypertrophic car... ORPHA:91130
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopa... ORPHA:352447
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... ORPHA:98759
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... ORPHA:352470
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Long eyebrows, Cryptorchidism, Distal amyotrophy, Long eyela... OMIM:275400
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Dysmetria, Gait ... OMIM:117360
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... ORPHA:79263
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... OMIM:619028
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... ORPHA:98764
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop... OMIM:615157
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Tremor ORPHA:66633
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Camptodactyly of finger, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernai... ORPHA:2251
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Heart murmur, Abnormal heart morpholo... ORPHA:1867
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... ORPHA:137898
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... OMIM:615491
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Spinocerebellar Ataxia 27B, Late-Onset
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop... OMIM:618250
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Ba... OMIM:609270
Stxbp1-Related Encephalopathy
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal... OMIM:208920
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... OMIM:302800
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... ORPHA:228360
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, P... ORPHA:88630
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... OMIM:605676
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... ORPHA:275872
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Piebald Trait With Neurologic Defects
White forelock, Ataxia OMIM:172850
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia OMIM:212360
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Brain atrophy, Cer... ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Hemochromatosis, Type 1
Alopecia, Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Azoospermia, Ar... OMIM:235200
Spinocerebellar Ataxia Type 36
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... ORPHA:276198
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Flexion contracture, Sparse body hair, Aplasia/Hypoplasia of the eye... ORPHA:2850
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... ORPHA:330050
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Cryptorchidism, Long eyelashes, Sparse hair ORPHA:3363
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia OMIM:612126
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contra... OMIM:615704
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... OMIM:618877
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... OMIM:617988
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait disturbance, Myo... ORPHA:391417
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... ORPHA:329284
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... OMIM:607694
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Failure to thrive, Skeleta... OMIM:619518
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Eyelid myoclonu... ORPHA:2590
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... ORPHA:542310
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Small nail, Spastic tetraparesis OMIM:619470
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor... ORPHA:289494
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Di... OMIM:616505
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, C... ORPHA:75389
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... ORPHA:529665
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Abnormal mitochondrial shape, Ragged-red muscle fibers, Flexion contract... ORPHA:17
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... OMIM:137440
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus... OMIM:159950
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abnormal testis morphol... ORPHA:317
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... ORPHA:3095
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Flexion contracture OMIM:203550
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Hypovolemic sh... ORPHA:158687
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen... OMIM:616586
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... ORPHA:90117
Ataxia-Telangiectasia
Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Gait disturbance, Spasticity ORPHA:100
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Cryptorchidism, Heart murm... ORPHA:166035
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment,... OMIM:617675
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy OMIM:619092
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Alopecia, Flexion contracture, Cerebral cortical atrophy OMIM:215100
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... OMIM:614381
Leigh Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular s... ORPHA:506
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Alopecia, Mitral regurgitation, Hypertensive crisis OMIM:301080
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Failure to thrive OMIM:610768
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Small for gestational ... OMIM:618775
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Localized Junctional Epidermolysis Bullosa
Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atro... ORPHA:251393
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Keutel Syndrome
Pulmonary arterial hypertension, Alopecia, Ventricular septal defect ORPHA:85202
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Obesity, Central nervous system degeneration, Cardiomyopathy, Myopathy, Shoulder girdle... ORPHA:98907
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Failure to thrive, Facial palsy, Absent eyelashes, Sparse hair, Tetralo... ORPHA:2316
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign,... OMIM:606002
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... ORPHA:442835
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... ORPHA:2930
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Failure to thrive, Abnormal pulmonary valve morphology, Po... ORPHA:974
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
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
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Sensory ataxia, Dystonia OMIM:619661
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Generalized cerebral ... ORPHA:36387
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Renpenning Syndrome
Skeletal muscle atrophy, Alopecia, Abnormal hairshaft morphology, Cachexia, Thin eyebrow, Decreas... ORPHA:3242
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia OMIM:619556
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Neuroferritinopathy
Resting tremor, Caudate atrophy, Abnormal dentate nucleus morphology, Parkinsonism, Writer's cram... ORPHA:157846
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Trichorrhexis nodosa, Head titubation, Babinski sign, Spastic diplegia, Ankle clo... OMIM:619691
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer... OMIM:617710
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Sparse eyebrow, Flexion c... OMIM:614008
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cerebral cortical atrophy, Cachexia ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... OMIM:615578
Satoyoshi Syndrome
Skeletal muscle hypertrophy, Alopecia, Alopecia universalis OMIM:600705
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Hypertonia, Hemiplegia ORPHA:79254
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... ORPHA:206594
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Cerebral atrophy, Retrocerebellar cyst, Cerebellar hypoplasia, S... OMIM:614219
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Alopecia, Pulmonic stenosis OMIM:618282
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... ORPHA:52368
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cor pulmonale, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chroni... OMIM:158310
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling OMIM:615595
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Alopecia, Limb joint contracture OMIM:612079
Hutchinson-Gilford Progeria Syndrome
Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction OMIM:176670
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
Olmsted Syndrome 2
Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis OMIM:619208
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Thick hair, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdia... ORPHA:502423
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... OMIM:618056
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy ORPHA:100976
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Hypomelanosis Of Ito
Alopecia OMIM:300337
Giant Cell Arteritis
Pericarditis, Alopecia, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Cerebral ischem... ORPHA:397
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Myopathy, Alopecia, Hypoplastic fingernail ORPHA:257
Olmsted Syndrome 1
Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope... OMIM:614594
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail ORPHA:2584
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Macroglossia, Abnormal mitochondrial shape, Cerebral atrophy ORPHA:412217
Kury-Isidor Syndrome
Alopecia, Ventricular septal defect, Hypertrichosis OMIM:619762
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Trichotillomania
Alopecia OMIM:613229
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Alopecia, Increased body weight, Hirsutism OMIM:615830
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Trichorrhexis nodosa, Sinus bradycardia, Mitral regurgitation,... OMIM:261990
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Myoclonic-Astatic Epilepsy
Ataxia, Frontal balding, Tremor, Unsteady gait, Abnormal pyramidal sign ORPHA:1942
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Aceruloplasminemia
Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... ORPHA:48818
O'Sullivan-Mcleod Syndrome
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations ORPHA:99965
Johanson-Blizzard Syndrome
Alopecia, Dextrocardia, Abnormal hair pattern, Abnormal cardiac septum morphology, Failure to thrive ORPHA:2315
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple, Truncal obesity, Cerebellar hypoplasia, Abnormal cerebellar vermi... ORPHA:3224
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Menkes Disease
Intracranial hemorrhage, Alopecia, Brittle hair, Sparse hair OMIM:309400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Alopecia, Corpus callosum atrophy, Hypoplasia of the pons, Distal amyotrophy,... ORPHA:412057
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arr... ORPHA:31824
Alstrom Syndrome
Alopecia, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Truncal obesity OMIM:203800
Chanarin-Dorfman Syndrome
Myopathy, Alopecia OMIM:275630
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Abnormal mitochondria... ORPHA:543470
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Bicuspid aortic valve OMIM:616367
Encephalocraniocutaneous Lipomatosis
Alopecia, Ventricular septal defect, Cryptorchidism, Cerebellar hypoplasia, Subvalvular aortic st... OMIM:613001
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramida... ORPHA:447753
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... OMIM:168600
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis OMIM:612164
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Dandy-Walker malformation OMIM:164180
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Failure to thrive OMIM:616353
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Mogs-Cdg
Alopecia, Fair hair, Cardiomegaly, Hydrocele testis, Long eyelashes, Atrial septal defect, Left v... ORPHA:79330
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Alopecia, Myocarditis, Pulmonary arterial hy... ORPHA:809
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... ORPHA:683
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail ORPHA:79394
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Cryptorchidism, Cerebe... ORPHA:1647
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Alopecia, Agenesis of cerebellar vermis, Cerebellar vermis ... OMIM:601853
Systemic Sclerosis
Pericarditis, Alopecia, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, M... ORPHA:90291
Monosomy 18P
Hypertension, Alopecia, Low posterior hairline ORPHA:1598
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Alopecia, Pericardial effusion, Myositis ORPHA:93552
Sézary Syndrome
Tremor, Alopecia, Nail dystrophy ORPHA:3162
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Lacunar stroke, Alopecia, Transient ischemic attack, Brain atrophy OMIM:600142
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebell... OMIM:620327
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormality of ext... OMIM:612199
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... ORPHA:845
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Broad-based gait, Ataxia, Tremor, Myoclonus, Gait imbalance ORPHA:98794
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Hematochezia, Nail dystrophy, Nail dysplasia OMIM:175500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Incontinentia Pigmenti
Alopecia, Telangiectasia of the skin, Camptodactyly of finger, Abnormal fingernail morphology, Su... ORPHA:464
Ataxia-Telangiectasia
Ataxia, Abnormal hair morphology, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Pro... OMIM:208900
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Hydrocele testis... OMIM:137940
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor... ORPHA:220497
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Cerebral atrophy, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Multiple joint contractures, Small for gestational age, Supraventricular arrhythmia, Lo... ORPHA:2959
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Paronychia, Alopecia of scalp, Ataxia OMIM:201100
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Adams-Oliver Syndrome 1
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertension, H... OMIM:100300
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Atrial fibrillation, Facial palsy, Quadriceps muscle weakness, Dilated cardio... ORPHA:254892
Adrenoleukodystrophy
Neurodegeneration, Alopecia, Lower limb muscle weakness OMIM:300100
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor... ORPHA:475
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance ORPHA:83629
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Proximal muscle weakness in lower limbs, Alopecia, Cerebellar hypoplasia ORPHA:453533
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... OMIM:308300
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Hypertension, Patchy alopecia, Cerebellar hypoplasia, Sparse hair, Cerebral c... OMIM:617763
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... OMIM:146500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... ORPHA:544488
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry... ORPHA:2309
Distal Deletion 19P
Alopecia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, Thick eye... ORPHA:96129
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Thin nail, Small nail OMIM:242100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Alopecia, Agenesis of cerebellar vermis, Fine hair ORPHA:228390
Fumarase Deficiency
Failure to thrive, Perimembranous ventricular septal defect, Mitochondrial swelling, Cerebral atr... OMIM:606812
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brai... OMIM:617186
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased body weight, Proximal amyotrophy, Hypertension, Abdominal obesity, Hirsutism ORPHA:189427
Tyrosinemia Type 2
Tremor, Ataxia, Abnormality of the nail ORPHA:28378
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Synophrys, Spastic diplegia, Ga... OMIM:300966
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Alopecia, Aortic valve s... ORPHA:79474
Ane Syndrome
Motor neuron atrophy, Alopecia, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Budd-Chiari syndrome, Nail dystrophy... OMIM:127550
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Cerebral cortical at... ORPHA:37
H Syndrome
Abnormal eyebrow morphology, Alopecia, Abnormal cardiovascular system physiology, Azoospermia, Fa... ORPHA:168569
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal mitochondrial shape ORPHA:485421
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor... ORPHA:220493
Focal Dermal Hypoplasia
Alopecia, Ventricular septal defect, Telangiectasia of the skin, Diastasis recti, Congenital diap... ORPHA:2092
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ... OMIM:607426
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal eyelash morphology, Cerebral atrophy, Subcortical cerebral atrophy, Tricuspid ... ORPHA:2396
X-Linked Agammaglobulinemia
Alopecia, Failure to thrive, Weight loss ORPHA:47
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyela... OMIM:106260
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... OMIM:601104
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athet... ORPHA:25
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... OMIM:268400
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Decreased testicular size, Cryptorchidism, Patchy alopecia, Camptodactyly of finger ORPHA:85279
Orofaciodigital Syndrome I
Dry hair, Alopecia, Cerebral atrophy, Abnormal heart morphology, Hypertension, Sparse hair, Cereb... OMIM:311200
Chediak-Higashi Syndrome
Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Gait disturbance, Neurodegeneration OMIM:214500
Bresek Syndrome
Alopecia ORPHA:85284
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Small hypothenar eminence, Sparse facial hair, Thenar musc... ORPHA:2232
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Inability ... ORPHA:466768
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... ORPHA:2108
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia OMIM:226600
Mandibuloacral Dysplasia
Sparse hair, Contractures of the large joints, Alopecia, Hypoplastic fingernail ORPHA:2457
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Raynaud p... ORPHA:740
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Small for gestat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Small for gestat... ORPHA:363958
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss ORPHA:79242
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Flexion contracture OMIM:608612
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Macs Syndrome
Alopecia, Sparse eyebrow, Cryptorchidism, Decreased body weight, Sparse hair OMIM:613075
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventricular s... ORPHA:273
Omenn Syndrome
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Congestive heart failure, Hypotension, Arrhythmia, Abno... ORPHA:428
Short Syndrome
Sparse hair, Alopecia, Weight loss ORPHA:3163
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Cerebellar hypoplasia, Nail dyspl... OMIM:613990
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Alopecia, Failure to thrive OMIM:210210
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Calcinosis, Nail dystrophy ORPHA:90154
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Alopecia, Myocarditis, Large vessel vasculitis, Ab... ORPHA:728
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Nail dystrophy, Hypotension, Failure to thrive, Abnormality of the pe... ORPHA:293978
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Frontonasal Dysplasia 2
Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, Agenesis of cerebellar vermis, ... OMIM:613451
Gapo Syndrome
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes ORPHA:2067
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Testicular adrenal rest tumor, Intracranial hemorrhage, Hypertension, Hirsutism ORPHA:90795
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Cryptorc... OMIM:308205
Rothmund-Thomson Syndrome
Calcinosis, Telangiectasia of the skin, Sparse eyelashes, Alopecia totalis, Small for gestational... ORPHA:2909
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Breast aplasia ORPHA:90153
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Bilateral crypto... OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Flexion contracture, Lower limb h... OMIM:300534
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive ORPHA:169154
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Gapo Syndrome
Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Nail dystrophy, Alopecia universalis OMIM:240300
Autosomal Recessive Robinow Syndrome
Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger... ORPHA:1507
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Flexion contracture, Abnormal cardiac septum morphology, Small nail, Single ventricle OMIM:308050
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Telangiectasia of the skin, Abnormal fingernail morphology... ORPHA:1775
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Abnormal... ORPHA:646
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Failure to thrive OMIM:304790
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Failure to thrive, Decreased testicular size OMIM:620040
Localized Scleroderma
Skeletal muscle atrophy, Abnormal skin adnexa morphology, Raynaud phenomenon, Vasculitis, Flexion... ORPHA:90289
Rothmund-Thomson Syndrome Type 1
Calcinosis, Small for gestational age, Alopecia totalis, Cryptorchidism, Telangiectasia, Sparse o... ORPHA:221008
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Paronychia, Dilated cardiomyopathy, Bradycardia, Nail dystrophy, Ano... ORPHA:79404
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Flexion contracture, Elbow flexion contracture, Camptoda... OMIM:248370
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Cryptorchidism, Alopecia, Mitral valve prolapse ORPHA:536532
Celiac Disease, Susceptibility To, 1
Alopecia, Failure to thrive, Weight loss OMIM:212750
Xeroderma Pigmentosum
Conjunctival telangiectasia, Decreased testicular size, Alopecia, Telangiectasia of the skin, Cry... ORPHA:910
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Leprosy
Skeletal muscle atrophy, Alopecia, Absent eyebrow, Epistaxis, Loss of eyelashes, Testicular mass,... ORPHA:548
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Dandy-Walker malformation, Failure... OMIM:264090
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Myositis, Failure to thrive in infancy, Cachexia, Nail dystrophy ORPHA:37042
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Congestive heart failure, Fine hair, Hyp... OMIM:181270
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Alopecia, Nail dystrophy, Failure to thrive, Onychogryposis ORPHA:79396
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Alopecia universalis OMIM:277440
Kikuchi-Fujimoto Disease
Alopecia, Myocarditis, Vasculitis, Weight loss, Vasculitis in the skin ORPHA:50918
Biotinidase Deficiency
Alopecia, Diffuse cerebellar atrophy, Diffuse cerebral atrophy OMIM:253260
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Raynaud phenomenon, Cryptorchidism, Patchy alopecia, Arrhythmia ORPHA:2874
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Joint contracture of the hand, Hypertrichosis OMIM:263700
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Failure to thrive in infancy, Alopecia universalis OMIM:606367
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Camptodactyly of finger, Abnormal eyelash morphology, ... ORPHA:2273
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Alopecia, Bicuspid aortic valve, Abnormal fingernail morphology, Myocardia... ORPHA:99413
Turner Syndrome
Prolonged QT interval, Alopecia, Bicuspid aortic valve, Abnormal fingernail morphology, Myocardia... ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Alopecia, Bicuspid aortic valve, Abnormal fingernail morphology, Myocardia... ORPHA:99228
Monosomy X
Prolonged QT interval, Alopecia, Bicuspid aortic valve, Abnormal fingernail morphology, Myocardia... ORPHA:99226
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Hypertension, Coarse hair, Sparse hair, Dandy-Walker malformation ORPHA:2750
Insulin-Resistance Syndrome Type B
Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ... ORPHA:2298
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Diffuse cerebellar atroph... ORPHA:33364
Omenn Syndrome
Alopecia, Failure to thrive OMIM:603554
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Sparse hair, Abnormal T-wave, Decreased testicular size OMIM:241080
Rothmund-Thomson Syndrome Type 2
Calcinosis, Small for gestational age, Alopecia totalis, Cryptorchidism, Sparse or absent eyelash... ORPHA:221016
African Trypanosomiasis
Abnormal EKG, Pericarditis, Alopecia, Myocarditis, Congestive heart failure, Weight loss, Second ... ORPHA:3385
Immunodeficiency 7
Failure to thrive, Patchy alopecia OMIM:615387
Biotinidase Deficiency
Alopecia, Limb muscle weakness ORPHA:79241
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Flexion contracture, Abdominal obesity, Decreased testicular size, Cerebellar cortical ... OMIM:619321
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive, Dandy-Walker m... OMIM:302960
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Sparse scalp hair, Epidural hem... OMIM:619472
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the cerebellum, Alopecia, Dandy-Walker malformation ORPHA:2612
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Prematur... OMIM:305000
Autosomal Dominant Robinow Syndrome
Alopecia, Camptodactyly of finger, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dy... ORPHA:3107
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Sarcoidosis
Abnormal cardiac ventricular function, Alopecia, Facial palsy, Portal hypertension, Heart block, ... ORPHA:797
Vascular Ehlers-Danlos Syndrome
Alopecia, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology,... ORPHA:286
Bloom Syndrome
Small for gestational age, Sparse eyelashes, Paronychia, Telangiectasia, Oligozoospermia, Azoospe... ORPHA:125
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension, Alopecia ORPHA:536
Woodhouse-Sakati Syndrome
Abnormal T-wave, Alopecia, Decreased testicular size, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Sympathetic Ophthalmia
Alopecia, Retinal hemorrhage, Poliosis ORPHA:79098
Developmental And Epileptic Encephalopathy 29
Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Ventricular septal defect, Sparse eyelashes, Congenital diaphragmati... OMIM:601803
Autoimmune Polyendocrinopathy Type 4
Alopecia ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Alopecia ORPHA:227982
Behcet Syndrome
Raynaud phenomenon, Patchy alopecia OMIM:109650
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Diastasis recti, Congenital diaphragmatic hernia, Supernumerary nipple... OMIM:305600
Chronic Graft Versus Host Disease
Alopecia, Flexion contracture, Weight loss, Onycholysis, Nail dystrophy ORPHA:99921
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Nail dystrophy, Alopecia universalis ORPHA:158668
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal sensory impairment OMIM:613287

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 Aars1

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 Aars1.

No publications found that use IMPC mice or data for Aars1.

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MGI Allele Allele Type Produced
Aars1em1(IMPC)Bay Exon Deletion Mice
Aars1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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