Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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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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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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

View all 71 images

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.

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
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair 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
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
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
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
Hemiplegia, Hypertonia, Spasticity, Rigidity ORPHA:3175
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Geniospasm 1
Chin myoclonus OMIM:190100
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty... ORPHA:241
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Hypotonia, Status epilepticus ORPHA:22
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Ataxia, Spastic ataxia ORPHA:1182
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Agitation, Oculogyric crisis, Falls, Abnormalit... ORPHA:13
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Dystonia 6, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Lingual dystonia, Limb dys... OMIM:602629
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Torticollis, Writer's cramp, Dystonia, Myoclonus, Limb myoclonus ORPHA:36899
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Axial hypoto... OMIM:618425
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, Axial hypotonia, Dystonia, Opisthot... OMIM:619653
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Generalized myoclonic seizure, Ataxia, Myoclonus OMIM:208700
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls, Axial hypotonia, ... OMIM:616921
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Spastic tetraparesis, Ataxia OMIM:619061
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Atonic seizure, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia ORPHA:94122
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Myoclonus, Familial, 2
Limb myoclonus, Dystonia OMIM:618364
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Epilepsy, Progressive Myoclonic 7
Tremor, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Spasticity, Seizure, Hypopigmentati... OMIM:256710
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Ataxia, Myoclonus OMIM:159800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Bilateral sensorineural hearing impairment, Myoclonus, Intention t... ORPHA:2589
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Generalized hypotonia, Hypotonia, Bruxism, Aggressive behavior OMIM:615493
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Seizure, Craniofacial d... OMIM:607483
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Axial hypotonia, Motor stereotypy, Self-injurious behavior, Choreoathetosis,... OMIM:617270
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Tremor, Atonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:612437
Snijders Blok-Fisher Syndrome
Facial hypotonia, Spasticity, Seizure, Opisthotonus, Generalized hypotonia, Choreoathetosis OMIM:618604
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathetosis, Episodic hemipl... OMIM:104290
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Dementia, Abnormality of extrapyramidal motor function, Seizure, Bilateral tonic-clonic seizure, ... OMIM:162350
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Gait disturbance, Dyst... OMIM:614561
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Seizure,... OMIM:619742
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Incoordination, Seizure, Fair hair, Gait ataxia OMIM:618808
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclon... OMIM:608105
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Dementia, Falls, Truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure,... OMIM:616230
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Seizure, Frequent falls, Gait ata... OMIM:607317
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Chorea, Spasticity, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, A... OMIM:616139
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Dentatorubral-Pallidoluysian Atrophy
Chorea, Seizure, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal... OMIM:613721
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Parkinsoni... OMIM:619565
Salt And Pepper Developmental Regression Syndrome
Hypermelanotic macule, Bilateral tonic-clonic seizure, Hearing impairment, Hypotonia, Myoclonus, ... OMIM:609056
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Axial hypotonia, Dystonia, Ataxia, Inappropriate laughter, ... OMIM:619150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Hypotonia, Bruxism, Aggressive behavior ORPHA:356996
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Pontocerebellar Hypoplasia, Type 2B
Babinski sign, Limb hypertonia, Chorea, Spasticity, Seizure, Tonic seizure, Clonus, Axial hypoton... OMIM:612389
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Stiff-Person Syndrome
Exaggerated startle response, Myoclonic spasms, Frequent falls, Rigidity, Opisthotonus, Vitiligo OMIM:184850
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Inability to walk, Spasticity, Seizure, Frequent falls, Gait disturbance, Opisthoto... ORPHA:216866
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus OMIM:614860
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Hypertonia, Oromandibular dystonia, Difficulty walking, Inability to walk, Lower li... ORPHA:300605
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Adult Neuronal Ceroid Lipofuscinosis
Dementia, Abnormality of extrapyramidal motor function, Mental deterioration, Seizure, Tremor, Sp... ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypertonia, Hypopigmentation of hair, Seizure, Tremor, Hypopigmentatio... ORPHA:33445
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Bilateral tonic-clonic seizure, Spastic paraplegia, Dysto... ORPHA:53583
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Axial hypotonia, Dystonia, Myoclonus OMIM:619647
Developmental And Epileptic Encephalopathy 37
Hyperkinetic movements, Chorea, Spasticity, Cogwheel rigidity, Focal hemiclonic seizure, Bilatera... OMIM:616981
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Alopecia, Mixed hypo... ORPHA:79397
Developmental And Epileptic Encephalopathy 84
Babinski sign, Epileptic spasm, Chorea, Spasticity, Seizure, Synophrys, Axial hypotonia, Dystonia... OMIM:618792
Ceroid Lipofuscinosis, Neuronal, 11
Generalized myoclonic seizure, Seizure, Cerebellar atrophy, Ataxia, Mental deterioration OMIM:614706
Epilepsy, Progressive Myoclonic, 11
Seizure, Intention tremor, Rigidity, Ataxia, Myoclonus OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Dementia, Abnormality of extrapyramidal motor function, Seizu... OMIM:615362
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Developmental And Epileptic Encephalopathy 52
Limb ataxia, Generalized myoclonic seizure, Spasticity, Seizure, Bilateral tonic-clonic seizure, ... OMIM:617350
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Benign Adult Familial Myoclonic Epilepsy
Generalized-onset seizure, Hand tremor, Focal-onset seizure, Myoclonus ORPHA:86814
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Difficulty walking, Myoclonic status epilepticus, Tremor... OMIM:614018
Pontocerebellar Hypoplasia, Type 7
Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticity, Hirsutism, Hypopigmentation of... OMIM:614969
Infantile Spasms Syndrome
Infantile spasms, Myoclonus ORPHA:3451
Hyperkeratosis-Hyperpigmentation Syndrome
Irregular hyperpigmentation, Multiple cafe-au-lait spots ORPHA:1336
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria OMIM:619191
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Inability to walk, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:615006
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Generalized myoclonic seizure, Sensorineural hearing impairment, Seizure, Spasticity, Ataxia, Myo... OMIM:545000
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Seizure, Low anterior hairline, Opisthotonus, Hypotonia OMIM:613661
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Frequent falls, Action myoclonus, Gait ataxia, Bilateral tonic-clo... OMIM:616540
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinocerebellar Ataxia 31
Limb ataxia, Ataxia, Gait ataxia OMIM:117210
Paroxysmal Non-Kinesigenic Dyskinesia
Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Rigidi... ORPHA:98810
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Axial hypotonia, Myoclonic seizu... OMIM:619964
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spasticity, Cerebel... OMIM:614322
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Abnormality of hair texture, Gait disturbance, Ataxia, Aplasia/Hypopl... ORPHA:2891
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Cognitive impairment, Ataxia, Aplasia/Hypoplasia of the cerebellum, Pigmentary ... ORPHA:1178
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Lower limb spasticity, Torsion dy... ORPHA:98811
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Atypica... OMIM:618396
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Truncal ataxia, Episodic ataxia... OMIM:607682
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Cafe... OMIM:616291
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Spasticity, Tremor, Focal moto... ORPHA:599373
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Seizure, Tremor, Bilateral tonic-clonic seizure, Paraparesis, ... OMIM:612736
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Developmental And Epileptic Encephalopathy 101
Seizure, Axial hypotonia, Opisthotonus, Hypotonia, Myoclonus OMIM:619814
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Bilateral tonic-clonic seizure, Spastic p... ORPHA:100988
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Limb hypertonia, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ... OMIM:619580
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Sensorineural hearing impairment, Cogwheel... ORPHA:363710
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Babinski sign, Hypertonia, Spasticity, Seizure, Cerebral palsy, Limb dystonia, Clonus, Febrile se... OMIM:619847
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Bilateral tonic-c... OMIM:620453
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Abnormality of extrapyramidal motor function, Bilateral tonic-clonic seizure... OMIM:204300
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Developmental And Epileptic Encephalopathy 16
Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia, Hypotonia, Myoclonus, Status... OMIM:615338
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Seizure, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Generalized hypotonia, Self-mu... OMIM:614063
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Seizure, Hemiparesis, Ataxia, Myoclonus, Paralysi... OMIM:606777
Striatonigral Degeneration, Infantile, Mitochondrial
Babinski sign, Chorea, Incoordination, Lingual dystonia, Poor motor coordination, Frequent falls,... OMIM:500003
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia OMIM:604432
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Spasticity, Gait ataxia, Inappropriate laughter, Opisthotonus, ... OMIM:103050
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anonychia, Axillary and groin... ORPHA:69125
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Bilateral tonic-clonic seizure, Dystonia, Opisthotonus, Hypotonia, Myoclonus, Status epil... OMIM:616672
Developmental And Epileptic Encephalopathy 69
Hyperkinetic movements, Axial hypotonia, Dystonia, Myoclonus, Spastic tetraplegia, Status epilept... OMIM:618285
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk, Generalized hypotonia OMIM:606053
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin OMIM:302000
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure OMIM:617709
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Dystonia, Status epilept... OMIM:618924
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Episodic Ataxia, Type 5
Typical absence seizure, Truncal ataxia, Episodic ataxia, Bilateral tonic-clonic seizure, Atypica... OMIM:613855
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Bilateral tonic-clonic seizure, Hypotonia, Myoclonus ORPHA:139406
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Seizure, Myoclonus, Frequent falls, Bilateral tonic-clonic seizure... OMIM:301020
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Hypotonia, Lower limb spasticity OMIM:619639
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Involuntary movements, Motor stereotypy, Hypotonia, Aggressive behavior OMIM:617171
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Generalized hypotonia,... ORPHA:98763
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure... OMIM:616366
Progressive Myoclonic Epilepsy With Dystonia
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Hemiparesis, Dystoni... ORPHA:352596
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Alternating Hemiplegia Of Childhood 2
Tetraplegia, Seizure, Dystonia, Ataxia, Episodic quadriplegia, Hemiplegia, Status epilepticus, Ch... OMIM:614820
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus OMIM:600143
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Hypertonia, Focal-onset seiz... ORPHA:306
Pontocerebellar Hypoplasia, Type 2E
Neonatal hypotonia, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spasticity... OMIM:615851
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Combined Saposin Deficiency
Babinski sign, Generalized clonic seizure, Hyperkinetic movements, Fasciculations, Hypotonia, Myo... OMIM:611721
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Spastic tetraparesis, Axial hypotonia, Hypotonia, Myoclonus, Choreoathetosis OMIM:617065
Spinocerebellar Ataxia Type 12
Bradykinesia, Dementia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrop... ORPHA:98762
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Abnormality of extrapyramidal motor function, Chorea, Seizure, Ath... ORPHA:382
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Spasticity, Progressive spasticity, Bilateral tonic-clonic seizure, Parapare... ORPHA:726
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Seizure, Tremor, Dystonia, Hypotonia, Myoclonus, Choreoathetosis OMIM:261630
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Dystonia, Myoclonus OMIM:619651
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Seizure, Hemiparesis, Dystonia, Ataxia, Extrapyramidal d... ORPHA:71277
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:613722
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Seizure, Infantile spasms, Myoclonus, Involuntary movements, Clonus, Myo... OMIM:620352
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Glutaric Acidemia I
Seizure, Rigidity, Dystonia, Opisthotonus, Hypotonia, Generalized hypotonia, Choreoathetosis, Spa... OMIM:231670
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Inability to walk, Spasticity, Seizure, Bilateral tonic-clonic seizure, Synophrys, Ataxia, Unstea... OMIM:620317
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Tremor, Focal tonic seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:617106
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Hypotonia, Motor stereotypy, H... OMIM:617862
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Generalized myoclonic seizure, Myoclonic absence seizure, Tremor, Bilateral tonic-c... OMIM:617836
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Dysto... OMIM:617389
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Abnormal pinna morphology, Bilateral tonic-clonic seizure, Synophrys, Long eyel... OMIM:615859
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Hyperkinetic movements, Focal motor seizure, Seizur... ORPHA:725
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Griscelli Syndrome Type 1
Premature graying of hair, Hypertonia, Seizure, White hair, Iris hypopigmentation, Ataxia, Genera... ORPHA:79476
D-Glyceric Aciduria
Neonatal hypotonia, Focal clonic seizure, Appendicular spasticity, Spasticity, Seizure, Bilateral... OMIM:220120
Spinocerebellar Ataxia, Autosomal Recessive 15
Seizure, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:615705
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Hyperkinetic movements, Focal-onset sei... OMIM:619317
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebella... OMIM:618090
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of... ORPHA:79399
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Generalized hypotonia, Hypotonia, Aggressive behavior OMIM:239500
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Chorea, Generalized-onset seizure... ORPHA:79137
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Cognitive imp... OMIM:615768
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy, Hypotonia OMIM:618709
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 92
Seizure, Spasticity, Dystonia, Ataxia, Myoclonus OMIM:617829
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Hyperkinetic movements, Seizure, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618497
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Involuntary movements, Dystonia, Hypotonia, Motor stereotypy, Self... OMIM:617820
Pontocerebellar Hypoplasia, Type 2A
Chorea, Seizure, Dystonia, Opisthotonus, Extrapyramidal dyskinesia OMIM:277470
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Lissencephaly Due To Lis1 Mutation
Neonatal hypotonia, Generalized myoclonic seizure, Tetraplegia, Focal motor seizure, Seizure, Inf... ORPHA:95232
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Bilateral tonic-clonic seizure, Dystonia, Ataxia, Myoclonus, Spastic diplegia OMIM:619065
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy, Hypotonia DECIPHER:8
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Opisthotonus, Hypotonia, Abnormal pyramidal sign OMIM:271900
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Athetosis, Gait disturban... OMIM:618141
Developmental And Epileptic Encephalopathy 59
Inability to walk, Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Ataxia, Gener... OMIM:617904
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Cachexia, Tremor, Cerebellar atrophy, Mental deterioration, Bilateral toni... OMIM:618093
Infantile Krabbe Disease
Hypopigmented skin patches, Generalized myoclonic seizure, Delayed brainstem auditory evoked resp... ORPHA:206436
Neurodevelopmental Disorder With Spasticity And Poor Growth
Oculomotor apraxia, Microtia, Myoclonic seizure, Ataxia, Opisthotonus, Myoclonus, Babinski sign, ... OMIM:618076
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Spasticity, Bilateral tonic-clonic seizure, Gait ataxia, Axial hypotonia... OMIM:620145
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Developmental And Epileptic Encephalopathy 33
Neonatal hypotonia, Epileptic spasm, Typical absence seizure, Incoordination, Seizure, Bilateral ... OMIM:616409
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Seizure, Gait disturbance, Bilateral ton... OMIM:300423
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Intention tremor OMIM:617863
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Auriculocondylar Syndrome 2B
Darwin tubercle of helix, Question mark ear, Synophrys, Opisthotonus, Hypotonia, Sparse hair OMIM:620458
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Axial hypo... OMIM:606703
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Dysdiadochokinesis, Cerebellar atrophy, Motor deterioration, Limb tremor, Ataxia, Loss o... OMIM:256731
Dermoids Of Cornea
Corneal opacity OMIM:304730
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
3-Methylglutaconic Aciduria Type 7
Hypertonia, Abnormality of extrapyramidal motor function, Spasticity, Seizure, Progressive extrap... ORPHA:445038
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Seizure, Tremor, Hearing impairment, Dystonia, Hypotonia, Myoclonu... ORPHA:139485
Ceroid Lipofuscinosis, Neuronal, 2
Seizure, Ataxia, Myoclonus OMIM:204500
Multiple Mitochondrial Dysfunctions Syndrome 1
Focal-onset seizure, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Axial hy... OMIM:605711
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Baker-Gordon Syndrome
Neonatal hypotonia, Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involunta... OMIM:618218
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with ... OMIM:619092
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Short stature, Ataxia, Clumsiness,... OMIM:608029
Alg11-Cdg
Hypertonia, Limb hypertonia, Seizure, Infantile muscular hypotonia, Axial hypotonia, Ataxia, Opis... ORPHA:280071
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Gait imbalance, Bilateral tonic-clonic se... ORPHA:101070
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Oxoglutarate Dehydrogenase Deficiency
Falls, Bilateral tonic-clonic seizure, Gait ataxia, Rigidity, Dystonia, Unsteady gait, Hypotonia,... OMIM:203740
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Hyperkinetic movements, Oculogyric crisis, Chorea, Spasticity, Seizure, Myocloni... OMIM:614254
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Congenital Disorder Of Glycosylation, Type In
Sensorineural hearing impairment, Seizure, Spasticity, Ataxia, Hypotonia, Myoclonus OMIM:612015
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Seizure, Focal tonic seizure, Limb tremor, Myoclonus OMIM:300699
Developmental Delay With Or Without Epilepsy
Spastic gait, Generalized non-motor (absence) seizure, Focal-onset seizure, Spasticity, Seizure, ... OMIM:620540
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Photosensitive myoclonic seizure, Progressive cerebellar ataxia, Progres... ORPHA:263516
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Chiari Malformation Type Ii
Ataxia, Dysphagia, Hypotonia, Opisthotonus, Generalized hypotonia OMIM:207950
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Benign Familial Neonatal Epilepsy
Simple febrile seizure, Focal-onset seizure, Neonatal seizure, Focal tonic seizure, Clonus, Axial... ORPHA:1949
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Inability to walk, Generalized hypotonia, Spastic diplegia OMIM:617830
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Dementia, Broad-based gait, Chorea, Seizure, Cerebel... ORPHA:248111
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Axial hypotonia, Sensorineural hearing impairment, Hypertonia, Opisthotonus OMIM:616896
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:277580
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Axial hypotonia, Dystonia, Myoclonus ORPHA:324588
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Early Myoclonic Encephalopathy
Generalized myoclonic seizure, Focal seizure with eyelid myoclonia, Focal motor seizure, Infantil... ORPHA:1935
Dravet Syndrome
Epilepsia partialis continua, Focal-onset seizure, Incoordination, Action tremor, Atypical absenc... ORPHA:33069
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Tremor, Axial hypotonia, Ataxia, Hypotonia, Myoclonus, Abn... OMIM:612016
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypotonia, Hyperkinetic movements, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Opisth... OMIM:616271
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Epileptic spasm, Erratic myoclonus, Seizure, Ataxia, Myoclonus, Spastic tetraplegia OMIM:619971
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Dystonia, Myoclonus, Laryngeal dystonia OMIM:616398
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Inability to walk, Apraxia, Spasticity, Tremor, Cerebell... OMIM:617810
Lesch-Nyhan Syndrome
Abnormality of extrapyramidal motor function, Spasticity, Seizure, Dystonia, Opisthotonus, Hypoto... OMIM:300322
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Tremor, Cerebellar ... OMIM:619028
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Hypertonia, Spasticity, Spastic tetraparesis, Frequent falls, Gait ataxia, Cogwhee... ORPHA:225154
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Seizure, Positive Romberg sign, Gait ataxia, Intentio... OMIM:607136
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Steppage gait, Focal myoclon... ORPHA:98818
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Seizure, Tremor, Dysdiadochokinesis, Ce... OMIM:614831
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Gait disturbance, Rigidity, Dystonia, Disinhibition, Restl... OMIM:600795
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Seizure, Hypopigmentation of the skin, Short attentio... ORPHA:411515
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Bilateral toni... OMIM:614487
Epidermolysis Bullosa Acquisita
Nail dystrophy, Abnormal hair morphology, Hyperpigmentation of the skin ORPHA:46487
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Hypotonia, Motor stereotypy, Aggre... OMIM:619470
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at... OMIM:618917
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Progressive spastic paraplegia ORPHA:306511
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f... ORPHA:2251
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 37
Hypertonia, Seizure, Tetraplegia, Opisthotonus, Hypotonia, Status epilepticus OMIM:619272
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Mitochondrial Complex I Deficiency, Nuclear Type 31
Sensorineural hearing impairment, Seizure, Hypotonia, Myoclonus, Dysmetria OMIM:618251
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Axial hypotonia, Dyst... OMIM:615159
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Focal motor seizure, Seizure, Bilateral... OMIM:619911
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Stereotypical hand wringing, Axial hypotonia, Dystonia, Self-injurious... OMIM:618760
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Hsd10 Disease
Seizure, Tremor, Infantile muscular hypotonia, Hearing impairment, Rigidity, Ataxia, Myoclonus, S... ORPHA:391417
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Babinski sign, Positive Romberg sign, Spasticity, Seizure, Dystonia, Ataxia, Loss of ambulation, ... OMIM:618088
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Tetanus
Hypertonia, Tremor, Rigidity, Opisthotonus, Dysphagia, Spasticity of pharyngeal muscles ORPHA:3299
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Obesity And Hypopigmentation
Red hair OMIM:620195
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Axial hypotonia, Dystonia, Unsteady gait... OMIM:617435
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Seizure, Generalized-onset seizure, Myo... ORPHA:79263
Spinocerebellar Ataxia 50