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Gene: Myo5a MGI:105976

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Gene Summary

Name:
myosin VA
Synonyms:
Myo5,  MVa,  9630007J19Rik,  MyoVA,  Dbv,  flail

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Myo5atm1a(KOMP)Wtsi HOM Early adult 9.77×10-05
abnormal cornea morphology Myo5atm1a(KOMP)Wtsi HOM   Early adult 9.79×10-05
abnormal behavior Myo5atm1a(KOMP)Wtsi HOM   Early adult 4.55×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Myo5atm1a(KOMP)Wtsi
body, WT, Female, WTSI
Myo5atm1a(KOMP)Wtsi
forearm, WT, Female, WTSI
Myo5atm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
forearm, HOM, Female, WTSI

View all 71 images

Myo5atm1a(KOMP)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
abnormal epidermal pigmentation, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Myo5atm1a(KOMP)Wtsi
abnormal coat/hair pigmentation, diluted coat color, HOM, Male, WTSI

Human diseases caused by Myo5a 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 Myo5a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Spasticity, Seizure, Premature graying of hair, Cerebellar hypoplas... ORPHA:33445
Griscelli Syndrome Type 1
Seizure, Premature graying of hair, Iris hypopigmentation, Generalized hypotonia, Ataxia, White h... ORPHA:79476

The table below shows human diseases predicted to be associated to Myo5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Spastic Diplegia And Impaired Intellectual Development
Spastic diplegia OMIM:270600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Book Syndrome
Premature graying of hair OMIM:112300
Atonic-Astatic Syndrome Of Foerster
Ataxia, Abasia, Inability to walk OMIM:209100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
Rigidity, Spasticity, Hemiplegia, Hypertonia ORPHA:3175
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Dyschromatosis Universalis Hereditaria
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor, Premature graying of hair OMIM:190200
Spinocerebellar Ataxia Type 4
Impaired tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... ORPHA:98765
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Hypotonia ORPHA:22
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Spastic ataxia, Ataxia ORPHA:1182
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Spinocerebellar Ataxia Type 23
Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... ORPHA:101108
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... OMIM:617294
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Spastic Paraplegia 72, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... OMIM:615625
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Torsion dystonia, Oroman... OMIM:602629
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Ataxia, Hypotonia, Hypertonia ORPHA:2672
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Chorea, Seizure, Falls, Rigidity, Abnormality of extrapyramidal motor function, Oculogyric crisis... ORPHA:13
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Spastic tetraplegia, Eyelid myoclonus, Ataxia, Tonic seizure, Bilateral tonic-... OMIM:619913
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Episodic Ataxia, Type 8
Slurred speech, Episodic ataxia, Intention tremor, Ataxia OMIM:616055
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Spinocerebellar Ataxia Type 30
Gait ataxia, Limb ataxia ORPHA:211017
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Axial hypotonia, Hyperkinetic movements, ... OMIM:616921
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Axial hypotonia, Hyperkineti... OMIM:618425
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Inability to walk, Parkinsonism, Apraxia, Choreoathetosis, Spastic tetraparesis, Axia... OMIM:619653
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia, Babinski sign OMIM:617584
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Difficulty walking, Hypertonia, Arm dystonia, Spasticity, Spastic diplegia, Spasti... OMIM:205100
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Abnormal cerebellum morphology, Parkinsonism, Abnormality of extrapyr... OMIM:162350
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor OMIM:616187
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Hearing impairment, Ataxia OMIM:159800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearing impairment, Progressive cereb... ORPHA:2589
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... ORPHA:95434
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Myoclonic Epilepsy, Familial Infantile
Gait ataxia, Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset ... OMIM:605021
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Elejalde Neuroectodermal Melanolysosomal Syndrome
Spasticity, Hypopigmentation of the skin, Seizure, Generalized hypotonia, Accumulation of melanos... OMIM:256710
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Focal dystonia, Tors... ORPHA:98807
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Opisthotonus, Seizure, Inability to walk, Rigidity,... OMIM:607483
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure OMIM:612437
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Broad-based gait, Dysdiadochokinesis OMIM:605388
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Choreoathetosis, Episodic quadriplegia, Bilateral tonic-clonic seizure, Dyst... OMIM:104290
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia OMIM:617769
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... ORPHA:101010
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Fair hair, Incoordination, Seizure OMIM:618808
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... OMIM:608105
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Snijders Blok-Fisher Syndrome
Spasticity, Seizure, Choreoathetosis, Generalized hypotonia, Facial hypotonia, Opisthotonus OMIM:618604
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... OMIM:607317
Epilepsy, Progressive Myoclonic, 8
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Dementia, Bilat... OMIM:616230
Myoclonus-Dystonia Syndrome
Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Dystonia ORPHA:36899
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia OMIM:125370
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Cognitive impairment, ... ORPHA:79262
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Impaired distal vibration sensation, Spasticity, Seizure, Spastic gait, Ataxia, Babinski sign, Ce... OMIM:619742
Dystonia 31
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dyston... OMIM:619565
Hypermanganesemia With Dystonia 2
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines... OMIM:617013
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonic seizure, Spasticity, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Hypoto... OMIM:616139
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Pontocerebellar Hypoplasia, Type 2B
Chorea, Myoclonic seizure, Spasticity, Extrapyramidal dyskinesia, Seizure, Limb hypertonia, Babin... OMIM:612389
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure with focal onset, Spastic tetraplegia, Status epilepticus, Bilater... OMIM:613721
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Head tremor, Axial dystonia OMIM:614860
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... OMIM:615400
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Salt And Pepper Developmental Regression Syndrome
Myoclonus, Choreoathetosis, Status epilepticus, Bilateral tonic-clonic seizure, Hypotonia, Hyperm... OMIM:609056
Woolly Hair
Sparse body hair, Abnormal pupil morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, Woo... ORPHA:170
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Bilat... ORPHA:53583
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Spasticity, Seizure, Premature graying of hair, Cerebellar hypoplas... ORPHA:33445
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Retrocollis, Tip-toe gait, Opisthotonus, Spastic diplegia, Parkinsonism, Inability to wal... ORPHA:300605
Developmental And Epileptic Encephalopathy 38
Generalized hypotonia, Status epilepticus, Ataxia, Hypertonia, Dystonia OMIM:617020
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Seizure, Inability to walk, Gait disturbance, Frequent falls, Opisthoto... ORPHA:216866
Developmental And Epileptic Encephalopathy 84
Chorea, Spasticity, Seizure, Synophrys, Generalized hypotonia, Babinski sign, Axial hypotonia, Ep... OMIM:618792
Ceroid Lipofuscinosis, Neuronal, 11
Seizure, Generalized myoclonic seizure, Ataxia, Mental deterioration, Cerebellar atrophy OMIM:614706
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... ORPHA:79397
Developmental And Epileptic Encephalopathy 37
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Focal hemiclonic seizure, Bilateral ton... OMIM:616981
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... OMIM:617831
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Frequent falls, Axial hypotonia, Dystonia OMIM:619647
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Geniospasm 1
Chin myoclonus OMIM:190100
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Growth delay, Lo... OMIM:614322
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Abnormal pyramidal sig... OMIM:617350
Epilepsy, Progressive Myoclonic, 11
Seizure, Rigidity, Myoclonus, Ataxia, Intention tremor OMIM:618876
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Sensorineural hearing impairment, Seizure, Generalized myoclonic seizure, Myoclonus, ... OMIM:545000
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente... OMIM:193510
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Atonic s... OMIM:614018
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic... OMIM:615006
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Pontocerebellar Hypoplasia, Type 7
Spasticity, Hypopigmentation of the skin, Macrotia, Seizure, Oculomotor apraxia, Myoclonus, Chore... OMIM:614969
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Axial hypotonia, Opisthotonus, Hypertonia OMIM:616896
Stiff-Person Syndrome
Exaggerated startle response, Myoclonic spasms, Rigidity, Frequent falls, Vitiligo, Opisthotonus OMIM:184850
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... OMIM:616540
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Paroxysmal Non-Kinesigenic Dyskinesia
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... ORPHA:98810
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Gait disturbance, Ataxia, Abnormality of hair text... ORPHA:2891
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Myoclonus, Hypotonia, Tremor OMIM:159900
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Cognitive impairment, Gait disturbance, Ataxia, Pigmentary ... ORPHA:1178
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Gait disturbance, Babinski sign, Spastic paraplegia, Bilateral tonic-clonic seiz... ORPHA:100988
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Abnormal pyramidal sign, Focal aware seizure, Gene... OMIM:607208
Hypertrichosis Lanuginosa Congenita
Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism ORPHA:2222
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Hypotonia, Axial hypotonia, Opisthotonus OMIM:619814
Congenital Disorder Of Glycosylation, Type Ip
Seizure, Hypotonia, Neonatal hypotonia, Opisthotonus, Low anterior hairline OMIM:613661
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Status epilepticus ... OMIM:204300
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Sensorineural hearing impairment, Dysdiadochokinesis, Truncal ataxia... ORPHA:363710
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus, Paresthesia OMIM:102300
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... OMIM:616948
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Febrile seizure (within the age range of 3 months to 6 years), Spasticity, Seizure, Spastic tetra... OMIM:619847
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Developmental And Epileptic Encephalopathy 16
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Generalized hypotonia, Stat... OMIM:615338
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Seizure, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, L... ORPHA:98811
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis ORPHA:228169
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia OMIM:604432
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Abnormal fingernail morphology,... ORPHA:89838
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure, Tetraparesis, Hypotonia, O... OMIM:616672
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... OMIM:618396
Episodic Ataxia, Type 9
Seizure, Status epilepticus, Episodic ataxia, Clonic seizure, Tonic seizure, Bilateral tonic-clon... OMIM:618924
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia OMIM:615924
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Hypotonia, Dystonia ORPHA:139406
Striatonigral Degeneration, Infantile, Mitochondrial
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Hypo... OMIM:500003
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ata... OMIM:606777
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure OMIM:613608
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Ge... ORPHA:352596
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Ataxia, Dysmetria, Bilateral tonic-clonic seizure, Difficulty walking OMIM:619191
Spinocerebellar Ataxia Type 14
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Generalized hypotonia, Limb ataxia... ORPHA:98763
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, Seizure, Ataxia OMIM:600143
Developmental And Epileptic Encephalopathy 69
Spastic tetraplegia, Myoclonus, Status epilepticus, Axial hypotonia, Hyperkinetic movements, Dyst... OMIM:618285
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Cerebellar vermis atrophy, Short stature, Progressive gait ataxia, Clumsiness, Babins... ORPHA:284332
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... OMIM:613855
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclonus,... ORPHA:726
Alternating Hemiplegia Of Childhood 2
Seizure, Choreoathetosis, Episodic quadriplegia, Status epilepticus, Hemiplegia, Ataxia, Tetraple... OMIM:614820
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Pe... ORPHA:1067
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Choreoathetosis, Generalized hypotonia, Generalized myoclonic seizure, Ataxia... OMIM:301020
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Myoclonus, Choreoathetosis, Spastic tetraparesis, Hypotonia, Axial hypotonia OMIM:617065
Pontocerebellar Hypoplasia, Type 2E
Myoclonic seizure, Spasticity, Spastic tetraplegia, Myoclonus, Large earlobe, Tonic seizure, Neon... OMIM:615851
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Abnormal cerebellum ... ORPHA:98762
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Combined Saposin Deficiency
Generalized clonic seizure, Myoclonus, Babinski sign, Hypotonia, Hyperkinetic movements, Fascicul... OMIM:611721
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Hypotonia, Tremor, Hypertonia, Dystonia OMIM:261630
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Tremor, Hypoto... OMIM:616421
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... OMIM:612736
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Truncal ataxia, Bilateral tonic-clonic seizure, Hypotonia, Unsteady gait OMIM:608636
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, Generalized hypotonia, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral t... OMIM:617106
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive gait ataxia, Myoclonus, Babinski sign, Spastic paraparesis, Upper limb hypertonia, Fr... ORPHA:254343
Guanidinoacetate Methyltransferase Deficiency
Chorea, Seizure, Abnormality of extrapyramidal motor function, Generalized myoclonic seizure, Ata... ORPHA:382
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia OMIM:250800
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Gait ataxia, Myoclonic seizure, Limb hypertonia, Inability to walk, Choreoathetosis, Generalized ... OMIM:619580
Developmental And Epileptic Encephalopathy 12
Spasticity, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Axial hypotonia, ... OMIM:613722
Classic Glucose Transporter Type 1 Deficiency Syndrome
Chorea, Spasticity, Extrapyramidal dyskinesia, Seizure, Hemiparesis, Apraxia, Myoclonus, Choreoat... ORPHA:71277
Intellectual Developmental Disorder, Autosomal Recessive 37
Hypotonia, Spasticity, Generalized hypotonia, Bruxism OMIM:615493
D-Glyceric Aciduria
Spasticity, Seizure, Spastic tetraplegia, Myoclonus, Focal clonic seizure, Status epilepticus, Bi... OMIM:220120
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Developmental And Epileptic Encephalopathy 6B
Chorea, Myoclonic seizure, Focal-onset seizure, Myoclonus, Choreoathetosis, Status epilepticus wi... OMIM:619317
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Generalized hypotonia, Bilateral tonic-clonic seizure, Paroxys... ORPHA:79137
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Griscelli Syndrome Type 1
Seizure, Premature graying of hair, Iris hypopigmentation, Generalized hypotonia, Ataxia, White h... ORPHA:79476
Developmental And Epileptic Encephalopathy 53
Myoclonic seizure, Seizure, Spastic tetraplegia, Tonic seizure, Bilateral tonic-clonic seizure, H... OMIM:617389
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Cognitive impairment, Cerebellar hypoplasia, Truncal ataxia, Limb ataxi... OMIM:615768
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Typical absence seizure, Seizure... ORPHA:2590
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Developmental And Epileptic Encephalopathy 23
Synophrys, Myoclonus, Long eyelashes, Tonic seizure, Bilateral tonic-clonic seizure, Hypotonia, D... OMIM:615859
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... ORPHA:79399
Glutaric Acidemia I
Seizure, Spastic diplegia, Rigidity, Choreoathetosis, Generalized hypotonia, Hypotonia, Opisthoto... OMIM:231670
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... ORPHA:139426
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Dystonia, Axial hypotonia OMIM:619651
Canavan Disease
Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Hypotonia, Epileptic spasm, Opisthotonus OMIM:271900
Pontocerebellar Hypoplasia, Type 2A
Chorea, Extrapyramidal dyskinesia, Seizure, Opisthotonus, Dystonia OMIM:277470
Adenylosuccinase Deficiency
Gait ataxia, Spasticity, Seizure, Inability to walk, Myoclonus, Generalized hypotonia, Hemiplegia... OMIM:103050
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Generalized myoclonic seizure, Generalized hypotonia, Ataxia, Bilateral tonic-clonic se... OMIM:617836
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Generalized hypotonia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:617113
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Generalized hypotonia, Status epilepticus without prominent motor symptoms, T... OMIM:617391
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Conductive hearing impairment, Seizure, Myoclonus, Choreoathetosis, Tonic seiz... OMIM:618497
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... OMIM:617284
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Myoclonus, Ataxia, Dystonia OMIM:617829
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... OMIM:618090
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Gait disturbance, Focal hemiclonic seizure, Tonic seizure, Bilater... OMIM:618141
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Hypotonia, Lower limb spasticity, Inability to walk OMIM:619639
Lissencephaly Due To Lis1 Mutation
Generalized tonic seizure, Seizure, Focal motor seizure, Opisthotonus, Generalized myoclonic seiz... ORPHA:95232
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb ap... ORPHA:454887
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Clumsiness, Focal awa... ORPHA:725
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Seizure, Ataxia OMIM:204500
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Spastic diplegia, Myoclonus, Ataxia, Babinski sign, Bilateral tonic-clonic seizure, Dystonia OMIM:619065
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Spasticity, Ankle clonus, Seizure, Spastic dipleg... ORPHA:206436
Creutzfeldt-Jakob Disease
Gait ataxia, Myoclonus, Hemiparesis, Extrapyramidal muscular rigidity OMIM:123400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Hypotonia, Bruxism ORPHA:356996
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Neurodevelopmental Disorder With Spasticity And Poor Growth
Myoclonic seizure, Oculomotor apraxia, Synophrys, Babinski sign, Hirsutism, Spasticity, Clonus, I... OMIM:618076
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Motor deterioration, Clumsiness, Myoclonus, Ataxia, Dysmetria, Loss ... OMIM:256731
Dermoids Of Cornea
Corneal opacity OMIM:304730
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Seizure, Myoclonus, Tremor, Hypotonia, Progressive cerebellar ataxia, Dy... ORPHA:139485
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Limb myoclonus, Generalized clonic seizure, Gene... ORPHA:306
Developmental And Epileptic Encephalopathy 109
Gait ataxia, Myoclonic seizure, Spasticity, Typical absence seizure, Myoclonus, Focal hemiclonic ... OMIM:620145
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Gait ataxia, Myoclonic seizure, Focal-onset seizure, Myoclonus, Generalized hypotonia, Impaired t... OMIM:619092
3-Methylglutaconic Aciduria Type 7
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Myocl... ORPHA:445038
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Bilateral tonic-cl... OMIM:618093
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonus, Spastic tetraparesi... OMIM:605711
Spinocerebellar Ataxia, Autosomal Recessive 17
Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Synophrys, Oculomotor apraxia, Clumsiness, Li... OMIM:616127
Alg11-Cdg
Seizure, Limb hypertonia, Ataxia, Axial hypotonia, Hypertonia, Opisthotonus, Infantile muscular h... ORPHA:280071
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia ORPHA:67047
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Postural tremor, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Abnormali... ORPHA:101150
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations OMIM:183050
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... OMIM:300423
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Generalized hypotonia, Ataxia, Tonic seizure, Bilateral ... OMIM:617904
Congenital Disorder Of Glycosylation, Type In
Spasticity, Sensorineural hearing impairment, Seizure, Myoclonus, Ataxia, Hypotonia OMIM:612015
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity, Bilateral tonic-clonic seizure with ... OMIM:619028
Juvenile Huntington Disease
Gait ataxia, Chorea, Cerebellar vermis atrophy, Seizure, Weight loss, Rigidity, Myoclonus, Dement... ORPHA:248111
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Myoclonic seizure, Spasticity, Seizure, Oculogyric crisis, Myoclonus, Hypotonia, Focal im... OMIM:614254
Spinocerebellar Ataxia 19
Gait ataxia, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwheel rigidity, Progress... OMIM:607346
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Falls, Poor coordination, Ataxia, Paroxysmal dyskinesia, Axial hypotonia, Dystonia, Bruxism OMIM:619150
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, My... ORPHA:263516
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Spasticity, Short stature, Clumsiness, Ataxia, Dysmetria, Cerebellar atrophy, Intent... OMIM:608029
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Myoclonus, Focal tonic seizure, Hypertonia, Limb tremor OMIM:300699
Early Myoclonic Encephalopathy
Focal motor seizure, Focal seizure with eyelid myoclonia, Myoclonus, Focal tonic seizure, General... ORPHA:1935
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Falls, Rigidity, Dysmetria, Hypotonia, Bilateral tonic-clonic seizure, Unsteady gait... OMIM:203740
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Abnormal pyramidal sign, Generalized tonic seizure, Seizure, Myoclo... OMIM:612016
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Gait imbalance, Abnormal cerebellum morphology, Seizure, Typical absence se... ORPHA:101070
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Myoclonus, Choreoathetosis, Hypotonia, Paroxysmal dyskin... OMIM:606703
Waardenburg Syndrome, Type 4A
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Atax... OMIM:277580
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Seizure, Myoclonus, Choreoathetosis, Ataxia, Hypotonia, Tremor, Neonatal hypotonia, H... OMIM:616271
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Axial hypotonia, Dystonia ORPHA:324588
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... ORPHA:240103
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Erratic myoclonus, Seizure, Spastic tetraplegia, Myoclonus, Ataxia, Epileptic spasm OMIM:619971
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Seizure, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb at... ORPHA:101112
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Lesch-Nyhan Syndrome
Spasticity, Seizure, Abnormality of extrapyramidal motor function, Choreoathetosis, Hypotonia, Op... OMIM:300322
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Seizure, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Po... OMIM:607136
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait OMIM:617917
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Generalized myoclo... OMIM:614487
Phosphoserine Aminotransferase Deficiency
Myoclonus, Seizure, Hypertonia OMIM:610992
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Myoclonus, Ataxia, Lower limb spasticity ORPHA:306511
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Congenital posterior occipital alopecia, ... ORPHA:79414
Spinocerebellar Ataxia 49
Dysdiadochokinesis, Abnormality of extrapyramidal motor function, Ataxia, Dementia, Babinski sign... OMIM:619806
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Cerebellar hypoplasia, Apraxia, Dy... OMIM:617810
Developmental And Epileptic Encephalopathy 49
Spasticity, Macrotia, Seizure, Myoclonus, Long eyelashes, Axial hypotonia OMIM:617281
Dravet Syndrome
Poor fine motor coordination, Generalized clonic seizure, Epilepsia partialis continua, Focal-ons... ORPHA:33069
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Babinski sign, Spastic tet... ORPHA:225154
Chiari Malformation Type Ii
Opisthotonus, Hypotonia, Generalized hypotonia, Ataxia OMIM:207950
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Benign Familial Neonatal Epilepsy
Limb myoclonus, Generalized tonic seizure, Focal-onset seizure, Focal clonic seizure, Status epil... ORPHA:1949
Epidermolysis Bullosa Acquisita
Hyperpigmentation of the skin, Abnormal hair morphology, Nail dystrophy ORPHA:46487
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Opisthotonus, Neonatal hypotonia OMIM:610678
Generalized Epilepsy With Febrile Seizures-Plus
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... ORPHA:36387
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Seizure, Myoclonus, Dysmetria, Hypotonia OMIM:618251
Hsd10 Disease
Seizure, Rigidity, Myoclonus, Choreoathetosis, Ataxia, Spastic paraparesis, Tremor, Hearing impai... ORPHA:391417
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Dense calcifications in the cerebellar dentate nucleus, Abnormal pyramidal sign, Seizure,... OMIM:213600
Tetanus
Rigidity, Tremor, Hypertonia, Opisthotonus, Spasticity of pharyngeal muscles ORPHA:3299
Mitochondrial Complex I Deficiency, Nuclear Type 37
Seizure, Status epilepticus, Hypotonia, Hypertonia, Tetraplegia, Opisthotonus OMIM:619272
Spinocerebellar Ataxia 50
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor, Hearing impairment OMIM:620158
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Seizure, Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, B... ORPHA:284324
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Spinocerebellar Ataxia 13
Gait ataxia, Spasticity, Abnormal pyramidal sign, Impaired distal vibration sensation, Myoclonus,... OMIM:605259
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Myoclonus, Generalized myoclonic seizure, Bilater... ORPHA:2382
Spinocerebellar Ataxia, Autosomal Recessive 13
Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Seizure, Dy... OMIM:614831
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Spasticity, Generalized-onset seizure, Seizure, Myoclonic s... ORPHA:79263
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Postural tremor, Resting tremor, Parkinsonism, Clumsiness, Rigidity, Focal motor seizure... OMIM:619911
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Myoclonic Epilepsy Of Infancy
Poor hand-eye coordination, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... ORPHA:86909
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, Myoclonus, Generalized hypotonia, Ataxia, Hypotonia OMIM:256730
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Hypopigmented skin patches, Onychogryposis of fingernail, Hyperpi... ORPHA:2251
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Dysdiadochokinesis, Spastic dysarthria, Oculomotor apraxia, Myoclonus, Generalized my... ORPHA:313772
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi... OMIM:617145
Ataxia-Telangiectasia
Spasticity, Cognitive impairment, Seizure, Premature graying of hair, Short stature, Gait disturb... ORPHA:100
Hereditary Continuous Muscle Fiber Activity
Ataxia, Slurred speech, Seizure, Spastic gait ORPHA:972
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Spasticity, Generalized-onset seizure, Generalized tonic s... ORPHA:208447
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Seizure, Myoclonus, Slurred speech, Nonprogressive cerebellar a... ORPHA:3327
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Hyperlysinemia
Tip-toe gait, Seizure, Spastic diplegia, Clumsiness, Thin eyebrow, Poor motor coordination, Simpl... ORPHA:2203
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Spasticity, Seizure, Cerebellar hypoplasia, Focal-onset seizure, Dementia, Ata... OMIM:226750
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Spotty hyperpigmentation, Dist... ORPHA:79133
Epilepsy, Early-Onset, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Hypo... OMIM:617290
Arnold-Chiari Malformation Type Ii
Somatic sensory dysfunction, Spasticity, Seizure, Paraparesis, Ataxia, Paraplegia, Hypotonia, Dif... ORPHA:1136
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Pontocerebellar Hypoplasia Type 4
Myoclonus, Seizure, Hypertonia ORPHA:166063
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Ataxia, Babinski sign, Hypoto... OMIM:617282
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity, Seizure, Generalized hypotonia, Status epilepticus, Bilateral tonic-clonic se... OMIM:613970
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Seizure, Parkinsonism, Truncal ataxia, Rigidity, Myoclonu... OMIM:618877
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Seizure, Resting tremor, Akinesia, Rigidity, Inability to w... ORPHA:391411
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Macrotia, Frontal hirsutism, Hypertonia, Opisthotonus, Protruding ear ORPHA:3304
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Hypotonia, Dysto... OMIM:619157
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Axial hypotonia, Myoclonus, Seizure, Hypertonia OMIM:610090
Developmental And Epileptic Encephalopathy 1
Erratic myoclonus, Abnormal pyramidal sign, Focal motor seizure, Focal-onset seizure, Generalized... OMIM:308350
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... ORPHA:307
Autosomal Dominant Cerebellar Ataxia
Somatic sensory dysfunction, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunct... ORPHA:99
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Inability to walk, Stereotypical hand wringing, Axial hypotonia, Dystonia OMIM:618760
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Gait disturbance, Babinski sign, Dysmetria, Atonic seizure, Bilateral... ORPHA:93952
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Gait ataxia, Chorea, Spasticity, Febrile seizure (within the age range of 3 months to 6 years), I... OMIM:618917
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Opisthotonus, Hypotonia, Seizure, Generalized hypotonia OMIM:210200
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Hypotonia, Focal... OMIM:616056
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Seizure, Truncal ataxia, Myoclonus, Ataxia, Babinski sign, Neonatal hypotonia, Dyston... OMIM:252011
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency