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Gene: Myo5a MGI:105976

Gene Summary

Name:

myosin VA

Synonyms:

Myo5, MVa, 9630007J19Rik, MyoVA, Dbv, flail

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal behavior	Myo5a^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.55×10^-05
abnormal cornea morphology	Myo5a^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.79×10^-05
abnormal coat/hair pigmentation	Myo5a^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.77×10^-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	0.0%
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

Myo5a^{tm1a(KOMP)Wtsi}
body, WT, Female, WTSI

Myo5a^{tm1a(KOMP)Wtsi}
forearm, WT, Female, WTSI

Myo5a^{tm1a(KOMP)Wtsi}
body, HOM, Female, WTSI

Myo5a^{tm1a(KOMP)Wtsi}
head, HOM, Female, WTSI

Myo5a^{tm1a(KOMP)Wtsi}
forearm, HOM, Female, WTSI

View all 71 images

Myo5a^{tm1a(KOMP)Wtsi}
abnormal epidermal pigmentation, HOM, Female, WTSI

Myo5a^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Myo5a^{tm1a(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.

Human diseases associated with Myo5a (4 diseases)
Human diseases predicted to be associated with Myo5a (1196 diseases)

The table below shows human diseases associated to Myo5a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray...	ORPHA:33445
Griscelli Syndrome Type 1	Ataxia, Partial albinism, White hair, Premature graying of hair, Seizure, Hypertonia, Generalized...	ORPHA:79476

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	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	Ataxia, Gait disturbance	ORPHA:1168
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Impaired temperature sensation	OMIM:212890
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, 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
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	Inability to walk, Ataxia, Abasia	OMIM:209100
Book Syndrome	Premature graying of hair	OMIM:112300
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
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, Hypertonia, Hemiplegia	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
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair, Ataxia, Intention tremor	OMIM:190200
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Hypotonia, Status epilepticus, Generalized myoclonic seizure	ORPHA:22
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax...	ORPHA:101108
Dystonia 15, Myoclonic	Dystonia, Writer's cramp, Myoclonus	OMIM:607488
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Developmental Delay With Dysmorphic Facies And Dental Anomalies	Seizure, Spasticity, Ataxia, Hypotonia	OMIM:619228
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia...	ORPHA:13
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
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
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Axial hypotonia, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkineti...	OMIM:618425
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi...	OMIM:619653
Spinocerebellar Ataxia Type 30	Limb ataxia, Gait ataxia	ORPHA:211017
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Dyskinesia, Limb And Orofacial, Infantile-Onset	Axial hypotonia, Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, F...	OMIM:616921
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
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, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure	OMIM:611092
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Seizure, Ataxia, Spastic tetraparesis	OMIM:619061
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity	OMIM:615493
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper...	OMIM:205100
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal...	OMIM:607483
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Spinocerebellar Ataxia Type 41	Gait ataxia	ORPHA:458798
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Snijders Blok-Fisher Syndrome	Facial hypotonia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypotonia, Spasticity	OMIM:618604
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus, Hearing impairment	OMIM:159800
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Bilateral sensorineural hearin...	ORPHA:2589
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t...	OMIM:605021
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Abnormal pyramidal sign, Impaired proprioception, Limb ataxia, Gait ...	ORPHA:95434
Deafness, Congenital, With Total Albinism	Albinism	OMIM:220900
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Epilepsy, Familial Adult Myoclonic, 7	Myoclonic tremor	OMIM:618075
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Hypotonia, Seizure, General...	OMIM:256710
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Segawa Syndrome, Autosomal Recessive	Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor...	OMIM:605407
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus	OMIM:159900
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Seizure, Fair hair, Incoordination, Gait ataxia	OMIM:618808
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia	OMIM:617769
Intellectual Developmental Disorder, Autosomal Recessive 58	Axial hypotonia, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious beh...	OMIM:617270
Alternating Hemiplegia Of Childhood 1	Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst...	OMIM:104290
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myoclonic s...	OMIM:162350
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal...	OMIM:614561
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor...	ORPHA:101010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Ataxia, Impaired distal proprioception, Impaired distal vibration sensation, ...	OMIM:619742
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb at...	OMIM:616230
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr...	OMIM:608105
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Hypot...	OMIM:616139
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia...	OMIM:607317
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus, Dystonia	OMIM:125370
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Inability to walk, Babinsk...	OMIM:617013
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Hypermelanotic macule, Hypotonia, Choreoathetosis, Status epilept...	OMIM:609056
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin...	OMIM:619565
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Pontocerebellar Hypoplasia, Type 2B	Axial hypotonia, Clonus, Tonic seizure, Chorea, Babinski sign, Hypotonia, Opisthotonus, Myoclonic...	OMIM:612389
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Ataxia, Dystonia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappro...	OMIM:619150
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior, Hypotonia, Bruxism, Spasticity	ORPHA:356996
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls, Vitiligo	OMIM:184850
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Clonus, Parkinsonism, Head titubation, I...	ORPHA:300605
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,...	ORPHA:170
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Par...	ORPHA:53583
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Abnormal pyramidal sign, Clumsiness, Seizur...	ORPHA:79262
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray...	ORPHA:33445
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Hypotonia, Truncal ataxia, Abnormal repetitive mannerisms, I...	OMIM:608636
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls	OMIM:619647
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Seizure, Pigmentary retinopathy, Tip-toe g...	ORPHA:216866
Developmental And Epileptic Encephalopathy 84	Epileptic spasm, Axial hypotonia, Chorea, Synophrys, Babinski sign, Opisthotonus, Seizure, Genera...	OMIM:618792
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Generalized myoclonic seizure, Ataxia, Seizure, Mental deterioration	OMIM:614706
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor	OMIM:618876
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Ataxia, Tremor, Focal-onset seizur...	OMIM:615362
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S...	OMIM:617350
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Pontocerebellar Hypoplasia, Type 7	Ataxia, Synophrys, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperto...	OMIM:614969
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking	OMIM:619191
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Babinski sign,...	OMIM:614322
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Sensorineural hearing impairment, Seizure, Myoclonus, Generalized myoclonic seizure, Spas...	OMIM:545000
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Myo...	OMIM:615006
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertonia, Axial hypotonia, Opisthotonus	OMIM:616896
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Congenital Disorder Of Glycosylation, Type Ip	Low anterior hairline, Hypotonia, Opisthotonus, Seizure, Neonatal hypotonia	OMIM:613661
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Ataxia, Apraxia	ORPHA:85338
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizu...	OMIM:619964
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Ataxia, Abnormality of hair texture, Sparse or absent eyelashes, Gait disturbance, Pili torti, Ap...	ORPHA:2891
Spinocerebellar Ataxia 31	Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Ataxia-Tapetoretinal Degeneration Syndrome	Ataxia, Pigmentary retinopathy, Gait disturbance, Cognitive impairment, Aplasia/Hypoplasia of the...	ORPHA:1178
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Dravet Syndrome	Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myo...	OMIM:606777
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Hyp...	OMIM:612736
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seiz...	ORPHA:100988
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi...	OMIM:616291
Developmental And Epileptic Encephalopathy 101	Axial hypotonia, Hypotonia, Opisthotonus, Seizure, Myoclonus	OMIM:619814
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad...	ORPHA:363710
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Hypoton...	OMIM:618396
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Generalized non-motor (absence) sei...	ORPHA:98811
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, H...	OMIM:619580
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Gait ataxia...	OMIM:605259
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (...	OMIM:607682
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonus, Seizure, Hyp...	OMIM:619847
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Opisthotonus, Gait ataxia, Myoc...	OMIM:103050
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Involuntary movements, Aggressive behavior, Hypotonia, Agitation, Abnormal repetitive mannerisms	OMIM:617171
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Clonic seizure, Hypotonia, Hemiparesis, Status epilepticus, Myoclonus,...	OMIM:615338
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre...	ORPHA:284332
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Generalized hypotonia	OMIM:606053
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho...	OMIM:500003
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Generalized hypotonia, Truncal ataxia, Abnormal repetitive manne...	OMIM:614063
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus, Dyst...	OMIM:618285
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Statu...	OMIM:616672
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto...	OMIM:618924
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Mitochondrial Complex I Deficiency, Nuclear Type 12	Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Hypotonia, Choreoathetosis, Seizure, Myo...	OMIM:301020
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Hypotonia, Dy...	OMIM:618090
Encephalopathy Due To Prosaposin Deficiency	Hypotonia, Bilateral tonic-clonic seizure, Myoclonus, Dystonia	ORPHA:139406
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Bilateral tonic-clonic seizure, Hypotonia, Lower limb spasticity	OMIM:619639
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonu...	ORPHA:352596
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age...	OMIM:616366
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Seizure, Status epilepticus, Dystoni...	OMIM:614820
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Hy...	OMIM:616421
Ceroid Lipofuscinosis, Neuronal, 8	Seizure, Ataxia, Myoclonus	OMIM:600143
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Developmental And Epileptic Encephalopathy 40	Axial hypotonia, Spastic tetraparesis, Hypotonia, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Pontocerebellar Hypoplasia, Type 2E	Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t...	OMIM:615851
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Hypotonia, Choreoatheto...	ORPHA:726
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Chorea, Hypotonia, Seizure, Athetosis, Focal impaired awa...	ORPHA:382
Combined Saposin Deficiency	Generalized clonic seizure, Babinski sign, Hypotonia, Hyperkinetic movements, Myoclonus, Fascicul...	OMIM:611721
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status ep...	ORPHA:71277
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Axial hypotonia, Myoclonus, Dystonia	OMIM:619651
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py...	OMIM:613135
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei...	OMIM:617113
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Developmental And Epileptic Encephalopathy 12	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seiz...	OMIM:613722
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Involuntary movements, Infantile spasms, Cl...	OMIM:620352
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Bilateral tonic-clonic seizure, Ataxia, Inability to walk, Synophrys, Unsteady gait, Hypotonia, S...	OMIM:620317
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure	OMIM:617080
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Opisthotonus	OMIM:250800
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dy...	OMIM:617836
Glutaric Acidemia I	Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Generalized hypoto...	OMIM:231670
Developmental And Epileptic Encephalopathy 23	Double eyebrow, Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile spasms, Toni...	OMIM:615859
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Hypotonia, M...	OMIM:617389
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure with generalized ...	ORPHA:2590
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hypotonia, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnorm...	OMIM:617862
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Hypotonia, Aty...	OMIM:616346
Griscelli Syndrome Type 1	Ataxia, Partial albinism, White hair, Premature graying of hair, Seizure, Hypertonia, Generalized...	ORPHA:79476
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Seizure	OMIM:615705
Continuous Spikes And Waves During Sleep	Speech apraxia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Ty...	ORPHA:725
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence...	ORPHA:79137
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal he...	OMIM:619317
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Generalized hypotonia, Abnormal repetitive...	OMIM:239500
D-Glyceric Aciduria	Axial hypotonia, Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opisthotonus, Se...	OMIM:220120
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Gene...	OMIM:617391
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal...	OMIM:617904
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Hypotonia, Myoclonic seizure, Cho...	OMIM:618497
Smith-Magenis syndrome	Hypotonia, Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Developmental And Epileptic Encephalopathy 92	Ataxia, Seizure, Myoclonus, Dystonia, Spasticity	OMIM:617829
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Hypotonia, Attention deficit hyperactivity disorder	OMIM:618709
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Canavan Disease	Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal pyramidal sign, Hypotonia, Opisthotonus	OMIM:271900
Pontocerebellar Hypoplasia, Type 2A	Chorea, Opisthotonus, Seizure, Extrapyramidal dyskinesia, Dystonia	OMIM:277470
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Lissencephaly Due To Lis1 Mutation	Axial hypotonia, Generalized myoclonic seizure, Infantile spasms, Focal motor seizure, Tetraplegi...	ORPHA:95232
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Ataxia, Myoclonus	OMIM:204500
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus	OMIM:254800
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Spinocerebellar Ataxia 48	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cachexia, Tremor, Chore...	OMIM:618093
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Infantile axial hypotonia,...	ORPHA:206436
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Developmental And Epileptic Encephalopathy 109	Axial hypotonia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical...	OMIM:620145
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Synophrys, Unsteady g...	OMIM:616127
Neurodevelopmental Disorder With Spasticity And Poor Growth	Clonus, Synophrys, Myoclonic seizure, Opisthotonus, Intention tremor, Ataxia, Nail pits, Seizure,...	OMIM:618076
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired t...	OMIM:300423
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead...	OMIM:616409
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Intention tremor	OMIM:617863
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,...	OMIM:606703
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Hypotonia, Seizure, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoc...	OMIM:256731
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem...	OMIM:610185
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertoni...	ORPHA:445038
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Multiple Mitochondrial Dysfunctions Syndrome 1	Axial hypotonia, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyr...	OMIM:605711
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls...	OMIM:203740
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent...	OMIM:608029
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper...	OMIM:618218
Alg11-Cdg	Axial hypotonia, Ataxia, Opisthotonus, Seizure, Hypertonia, Infantile muscular hypotonia, Limb hy...	ORPHA:280071
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Myoclonic seizu...	OMIM:614254
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit...	OMIM:617820
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Congenital Disorder Of Glycosylation, Type In	Ataxia, Sensorineural hearing impairment, Hypotonia, Seizure, Myoclonus, Spasticity	OMIM:612015
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus	OMIM:300699
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Chiari Malformation Type Ii	Ataxia, Hypotonia, Opisthotonus, Generalized hypotonia, Dysphagia	OMIM:207950
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizur...	ORPHA:248111
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psych...	ORPHA:263516
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ...	ORPHA:1935
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia...	OMIM:612016
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Sensorineural hearing impairment, Blue irides, Hypopigmen...	OMIM:277580
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia, Generalized hypotonia	OMIM:617830
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclo...	OMIM:616271
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus	OMIM:619971
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Spinocerebellar Ataxia 17	Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Seizure, B...	OMIM:607136
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Short attention span, Lower limb spasticity, Bilateral tonic-clonic seizure w...	OMIM:619028
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Seizure, Progressive cerebell...	ORPHA:101112
Lesch-Nyhan Syndrome	Hypotonia, Opisthotonus, Choreoathetosis, Seizure, Abnormality of extrapyramidal motor function, ...	OMIM:300322
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Poor motor coordination, Generalized myoclonic seizure, Photosens...	ORPHA:86909
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, ...	OMIM:614487
Landau-Kleffner Syndrome	Speech apraxia, Short attention span, Bilateral tonic-clonic seizure with generalized onset, Bila...	ORPHA:98818
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A...	OMIM:614831
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba...	OMIM:600795
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Benign Familial Neonatal Epilepsy	Axial hypotonia, Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Fo...	ORPHA:1949
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Hypop...	ORPHA:411515
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressive spastic paraplegia	ORPHA:306511
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A...	OMIM:309548
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Ab...	OMIM:619470
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia...	OMIM:619806
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Combined Oxidative Phosphorylation Deficiency 4	Neonatal hypotonia, Spasticity, Opisthotonus	OMIM:610678
Mitochondrial Complex I Deficiency, Nuclear Type 31	Sensorineural hearing impairment, Hypotonia, Dysmetria, Seizure, Myoclonus	OMIM:618251
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypotonia, Tetraplegia, Opisthotonus, Seizure, Hypertonia, Status epilepticus	OMIM:619272
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Parkinsonism, Rigidity...	OMIM:619911
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	ORPHA:2251
Lopes-Maciel-Rodan Syndrome	Axial hypotonia, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Ankle clonu...	OMIM:617435
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio...	ORPHA:100973
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ...	OMIM:618917
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida...	OMIM:615159
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs...	OMIM:619157
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Myoclonus, Spastic paraparesis, Infantile mus...	ORPHA:391417
Tetanus	Tremor, Rigidity, Opisthotonus, Hypertonia, Dysphagia, Spasticity of pharyngeal muscles	ORPHA:3299
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand...	OMIM:618760
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Seizure, Positive Romberg sign, Dys...	OMIM:618088
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordin...	ORPHA:79263
Obesity And Hypopigmentation	Red hair	OMIM:620195
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity	OMIM:256730
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, A...	ORPHA:208447
Kohlschutter-Tonz Syndrome	Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia...	OMIM:226750
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spast...	ORPHA:313772
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Ataxia-Telangiectasia	Hypopigmentation of hair, Ataxia, Short stature, Tremor, Premature graying of hair, Seizure, Gait...	ORPHA:100
Hereditary Continuous Muscle Fiber Activity	Seizure, Slurred speech, Ataxia, Spastic gait	ORPHA:972
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S...	ORPHA:2203
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ...	OMIM:617145
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Hypotonia, Gait ataxia, Choreoathetosi...	OMIM:618877
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia	OMIM:615282
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, Blepharosp...	OMIM:617282
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Thyrocerebrorenal Syndrome	Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus, Nonprogressive cerebellar a...	ORPHA:3327
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Seizure, Hypertonia, Myoclonus, Axial hypotonia	OMIM:610090
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Developmental And Epileptic Encephalopathy 1	Dystonia, Axial hypotonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset sei...	OMIM:308350
Atypical Rett Syndrome	Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ...	ORPHA:3095
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia, Spasticity	OMIM:620094
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Protruding ear, Opisthotonus, Hypertonia, Frontal hirsutism, Macrotia	ORPHA:3304
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept...	OMIM:613970
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Premature graying of hair, Heterochromia iridis	ORPHA:66633
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Pigmentary retinopathy, Seizure, Myoclonus, Truncal ataxia, Neon...	OMIM:252011
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Seizure, Hypotonia, Generalized hypotonia, Opisthotonus	OMIM:210200
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Hypotonia, Dysmetria, Seizure, Myoclonus, Truncal ataxia	OMIM:250620
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, O...	OMIM:612716
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot...	OMIM:128100
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata...	ORPHA:140927
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Spinocerebellar Ataxia 4	Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment	OMIM:600223
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Prominent ear helix, Synophrys, Low anterior hairline, Generalized non-motor (a...	ORPHA:411986
Pontocerebellar Hypoplasia Type 4	Seizure, Hypertonia, Myoclonus	ORPHA:166063
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Myoclonus, Generalized myoclonic seizur...	OMIM:159950
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Mohr-Tranebjaerg Syndrome	Tremor, Postlingual sensorineural hearing impairment, Abnormal posturing, Dystonia, Progressive s...	OMIM:304700
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Focal-onset seizure, Low a...	OMIM:619616
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Developmental And Epileptic Encephalopathy 107	Appendicular hypotonia, Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia	OMIM:620033
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Cerebral palsy, Hypotonia, Opisthotonus, Seizure, Generalized hypotonia	OMIM:210210
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Short stature, Tre...	ORPHA:1170
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor	OMIM:203450
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti	ORPHA:1573
Pontocerebellar Hypoplasia, Type 1E	Neonatal hypotonia, Myoclonus	OMIM:619303
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu...	ORPHA:208513
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Hyp...	OMIM:183090
Pontocerebellar Hypoplasia, Type 4	Seizure, Spasticity, Hypertonia, Myoclonus	OMIM:225753
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G...	ORPHA:275864
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Phosphoserine Aminotransferase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610992
Japanese Encephalitis	Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor...	ORPHA:79139
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Infantile axial hypotonia, Focal-onset seizure, Chorea, Babinski si...	ORPHA:225147
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypotonia, Choreoathetosis...	ORPHA:561854
Thyrocerebroretinal Syndrome	Ataxia, Sensorineural hearing impairment, Slurred speech, Seizure, Myoclonus	OMIM:274240
Ataxia-Telangiectasia-Like Disorder	Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Generalized hypotonia, Dys...	ORPHA:251347
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Progressive s...	ORPHA:401866
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypotonia, Myoclonic seizure, Hype...	OMIM:617290
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
Narp Syndrome	Ataxia, Retinal pigment epithelial mottling, Babinski sign, Seizure, Progressive gait ataxia, Myo...	ORPHA:644
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep...	ORPHA:363400
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Peho-Like Syndrome	Bilateral tonic-clonic seizure, Hypotonia, Status epilepticus, Myoclonus, Neonatal hypotonia	OMIM:617507
Succinic Semialdehyde Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Hypotonia, Seizu...	OMIM:271980
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-injurious behav...	OMIM:617695
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Generalized non-...	ORPHA:485350
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Hypotonia, Opisthotonus, Seizure, Hypertonia...	OMIM:252160
Glycine Encephalopathy 1	Seizure, Generalized hypotonia, Myoclonus, Hypotonia	OMIM:605899
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi...	OMIM:204200
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Ge...	OMIM:233910
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def...	OMIM:613670
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic...	ORPHA:99802
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity	OMIM:618201
Spinocerebellar Ataxia Type 36	Ataxia, Hearing impairment, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, T...	ORPHA:276198
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Generalized hypotonia, Abnormal repetitive mannerisms, Attention deficit hyperact...	OMIM:618906
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Infa...	ORPHA:289266
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Paraplegia, Growth delay, Seizure, Hypertonia, Hemiplegia, Atte...	ORPHA:79254
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Foc...	ORPHA:228346
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Posteriorly rotated...	OMIM:618598
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Spasticity	OMIM:618225
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms	OMIM:612069
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea...	ORPHA:70472
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia...	ORPHA:157941
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Crisponi/Cold-Induced Sweating Syndrome 1	Seizure, Low-set ears, Opisthotonus	OMIM:272430
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Spinocerebellar Ataxia Type 13	Torticollis, Impaired distal vibration sensation, Limb ataxia, Titubation, Clumsiness, Seizure, G...	ORPHA:98768
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Myoclonus, Intractable, Neonatal	Clonic seizure, Chorea, Hypotonia, Athetosis, Myoclonus	OMIM:617235
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Myoclonus, Head tremor, Dystonia	OMIM:619724
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov...	OMIM:619738
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria, Difficulty walking...	ORPHA:280763
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Myoclonus, Limb dystonia, Spas...	ORPHA:508093
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impairment, Oromotor apraxia, H...	OMIM:617854
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, I...	OMIM:617166
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Macrotia, Hyperkinetic movements, Hypotonia	ORPHA:397933
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Severe muscular hypotonia, Febrile status epilepticus, Axial hypotonia...	OMIM:612949
Riboflavin Transporter Deficiency	Ataxia, Tremor, Hypotonia, Seizure, Progressive hearing impairment, Myoclonus, Iris hypopigmentation	ORPHA:97229
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia	OMIM:609425
Alexander Disease Type I	Ataxia, Abnormal pyramidal sign, Hypotonia, Spasticity, Seizure, Generalized hypotonia, Palatal t...	ORPHA:363717
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Opisthotonus, Generalized tonic seizure	OMIM:619685
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Seizure, Abnormality of extrapyramida...	ORPHA:79279
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Congenital Fibrinogen Deficiency	Abnormality of the subungual region, Opisthotonus	ORPHA:335
Schindler Disease, Type I	Hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity	OMIM:609241
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Babinski sign, Hypotonia, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, ...	OMIM:618356
Hyperekplexia 4	Seizure, Hypertonia, Myoclonus	OMIM:618011
Alzheimer Disease 3	Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Abnormality of extrapyramidal motor funct...	OMIM:607822
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Hypotonia, Seizure, Athetosis, Myoclonus	OMIM:618241
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Hypotonia, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Myoclonus,...	OMIM:560000
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,...	ORPHA:420492
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus, Hearing impairment	OMIM:619057
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Hemifacial Atrophy, Progressive	Seizure, Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia	OMIM:225050
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Rigidity, Chorea, A...	ORPHA:98759
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti...	OMIM:270750
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Nmda Receptor Encephalitis	Generalized-onset seizure, Oculogyric crisis, Involuntary movements, Rigidity, Focal-onset seizur...	ORPHA:217253
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff...	ORPHA:98772
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat...	ORPHA:529665
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Hypotonia, Choreoathetosis, Seizure, Myoclonus, Generalized hypotonia, Dystonia, Episodic...	OMIM:312170
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetr...	OMIM:618012
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Seizure, Babinski sign, Myoclonus, Apraxia	OMIM:618193
Gerstmann-Straussler-Scheinker Syndrome	Dysesthesia, Gait ataxia, Abnormality of extrapyramidal motor function, Paresthesia, Limb myoclon...	ORPHA:356
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Autosomal Recessive Spastic Paraplegia Type 23	Waddling gait, Short stature, Silver-gray hair, Spastic paraplegia, Seizure, Multiple lentigines,...	ORPHA:101003
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Distal sensory impairment, Hype...	OMIM:616505
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Seizure, Status epi...	ORPHA:442835
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Babinski sign, G...	OMIM:618170
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Axial hypotonia, Clonus, Focal motor status epilepticus, Rigidity, Focal-ons...	OMIM:614498
Mitochondrial Dna Depletion Syndrome 19	Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Generalized hypotonia, Spasticity...	OMIM:618972
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk...	OMIM:609270
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Spasticity, Abnormal repetitive mannerisms, Hypotonia, Difficulty walking	OMIM:617393
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Short stature, Premature graying of hai...	ORPHA:3322
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder	OMIM:620065
Chudley-Mccullough Syndrome	Seizure, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Axial hypotonia, Bilateral tonic-clonic seizure, Facial-lingual fas...	OMIM:617281
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Dysmetria, Seizure, Myoclonus, Low-set ears, Generalized hypertric...	ORPHA:93399
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Hyperekplexia 1	Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures	OMIM:149400
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Abnormal muscle tone, Myoclonic...	OMIM:252150
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset...	ORPHA:98795
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches	ORPHA:3239
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Generalized h...	OMIM:618060
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysme...	OMIM:602481
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Chorea, Hypotonia, Myoclonus, Attention deficit hyperactivity diso...	OMIM:617600
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Huntington Disease	Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Bradykinesia, Seizure...	ORPHA:399
D-Glyceric Aciduria	Chorea, Seizure, Myoclonus, Infantile muscular hypotonia, Spasticity, Hearing impairment	ORPHA:941
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G...	OMIM:616640
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Ataxia, Tremor, Seizure, Myoclonus, Infantile muscular hypotonia, Hypop...	ORPHA:98794
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Gaucher Disease, Perinatal Lethal	Neonatal death, Seizure, Akinesia, Opisthotonus	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Axial hypotonia, Ataxia, Parkinsonism, Facial hypotonia, Dystonia, ...	OMIM:300055
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Paroxysmal dystonia, Axial hypotonia, Weakness due to upper motor neuron d...	ORPHA:466722
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Generalized-onset seizure, Axial hypotonia, Inability to walk, Hypotonia, Opisthotonus, Seizure, ...	ORPHA:508533
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Gaucher Disease, Type Iii	Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Cataracts, Spastic Paraparesis, And Speech Delay	Axial hypotonia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal m...	OMIM:619338
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor	ORPHA:363722
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,...	ORPHA:1807
Valinemia	Hyperkinetic movements	OMIM:277100
9P13 Microdeletion Syndrome	Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Abnormality of cartilage of extern...	ORPHA:324313
Nipah Virus Disease	Tremor, Seizure, Myoclonus	ORPHA:99825
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Neonatal hypotonia, Abnormal r...	DECIPHER:45
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Posttransplant Acute Limbic Encephalitis	Seizure, Ataxia, Myoclonus, Dystonia	ORPHA:163921
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides	OMIM:261600
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Seizure, Gait imbalance, Hypopigment...	ORPHA:411511
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Microcephaly-Capillary Malformation Syndrome	Infantile spasms, Spastic tetraparesis, Abnormal hair whorl, Hypotonia, Seizure, Myoclonus, Small...	OMIM:614261
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Ataxia, Sensori...	OMIM:609136
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d...	ORPHA:157846
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic para...	ORPHA:329308
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Axial hypotonia, Oculogyric crisis, Babinski sign, Lim...	OMIM:608643
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Neu-Laxova Syndrome	Abnormal eyelash morphology, Macrotia, Abnormal hair morphology, Opisthotonus	ORPHA:2671
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Short stature, Tremor, Overweight, Seizure, Hyperkinetic movement...	ORPHA:457240
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Ataxia, Gait disturbance, Inappropriate laughter, Generalized hypo...	OMIM:614104
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic...	ORPHA:168491
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Hypertonia, Focal im...	OMIM:300607
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Seizure, Axial hypotonia, Myoclonus	OMIM:300673
Oromandibular Dystonia	Limb dystonia, Torticollis, Generalized dystonia, Bruxism, Blepharospasm, Hyperkinetic movements,...	ORPHA:93958
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Repetitive compulsive behavior, Hypertonia, Compulsive behaviors, ...	ORPHA:352490
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Spastic tetraparesis, Seizure, Hypertonia, Myoclonus, Infantile axial hypotonia	ORPHA:284417
Nystagmus, Hereditary Vertical	Ataxia	OMIM:164150
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Generalized...	OMIM:610042
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus, Myoclonic seizure	OMIM:618240
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Infantile Sialic Acid Storage Disease	Fair hair, Hypopigmentation of the skin	OMIM:269920
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Epileptic spasm, Axial hypotonia, Seizure, Myoclonus, Dystonia, Hearing ...	OMIM:617669
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Cerebellar hypoplasia, Sparse...	OMIM:616353
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo	OMIM:221350
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Unilateral Polymicrogyria	Axial hypotonia, Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegi...	ORPHA:268943
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Axial hypotonia, Bilateral tonic-clonic seizure, Facial hypotonia, Uplifted e...	ORPHA:364028
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto...	ORPHA:79264
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Dystonia...	ORPHA:171695
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Opisthotonus, Seizure, Hypertonia, Febrile seizure (within the age range of...	OMIM:614098
Severe X-Linked Intellectual Disability, Gustavson Type	Abnormal pinna morphology, Severe muscular hypotonia, Seizure, Hypertonia, Myoclonus, Spasticity,...	ORPHA:3078
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Seizure, Myoclonus, Apraxia, Spasticity	OMIM:221770
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Self-injurious ...	OMIM:618004
Christianson Syndrome	Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man...	ORPHA:85278
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Abeta Amyloidosis, Iowa Type	Myoclonus	ORPHA:324708
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Brunet-Wagner Neurodevelopmental Syndrome	Neonatal hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Hypotonia	OMIM:613886
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Neuraminidase Deficiency	Sensorineural hearing impairment, Slurred speech, Hypotonia, Dysmetria, Seizure, Myoclonus, Gener...	OMIM:256550
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Lower limb spasticity, Pain insensitivity, Axial hypotonia, Ataxia, Facial hypotonia, Rigidity, I...	OMIM:300260
Pyridoxal Phosphate-Responsive Seizures	Axial hypotonia, Seizure, Hypertonia, Status epilepticus, Myoclonus	ORPHA:79096
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Microcephaly, Amish Type	Axial hypotonia, Myoclonus, Limb hypertonia	OMIM:607196
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Tremor, Laryngeal dystonia, Typical absen...	ORPHA:845
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Growth delay, Status epilep...	OMIM:615673
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity di...	OMIM:301029
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spastic...	OMIM:617807
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Angelman Syndrome	Ataxia, Atonic seizure, Infantile spasms, Tremor, Seizure, Status epilepticus, Myoclonus, Atypica...	ORPHA:72
Hijazi-Reis Syndrome	Lower limb spasticity, Hypotonia, Ankle clonus, Gait disturbance, Abnormal repetitive mannerisms	OMIM:301094
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic...	OMIM:619121
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Hypotonia, Self-injurious behavior, Abnormal repetitive manner...	ORPHA:228402
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Lafora Disease	Bilateral tonic-clonic seizure, Confusion, Bilateral tonic-clonic seizure with focal onset, Gener...	ORPHA:501
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Short stature, White hair, Ocular albinism, Seizure, Hypertonia, Aplasia/Hypoplasia of th...	ORPHA:2720
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Axial hypotonia, Unsteady gait, Pica, Tongue thrusting, ...	OMIM:617865
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P...	ORPHA:97355
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Short stature, Abnormal eyelash morphology, Silver-gray hair...	ORPHA:381
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Generalized hypotonia, ...	OMIM:614299
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements, Tinnitus	ORPHA:209970
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Myoclonus, Generalized hypotonia	OMIM:619060
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Thick eyebrow, Axial hypotonia, Ataxia, Posteriorly rotated ears, Generali...	OMIM:619229
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Severe mu...	ORPHA:314655
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Congenital Sialidosis Type 2	Ataxia, Hypotonia, Dysmetria, Seizure, Myoclonus, Low-set ears, Generalized hypertrichosis, Spast...	ORPHA:93400
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Ataxia	ORPHA:3350
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Neonatal hypotonia, Seizure, Myoclonus, Hypotonia	OMIM:616158
Sialidosis Type 1	Ataxia, Tremor, Sensorineural hearing impairment, Slurred speech, Hypotonia, Seizure, Myoclonus	ORPHA:812
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Subependymal Nodular Heterotopia	Focal-onset seizure, Seizure, Focal aware seizure, Limb myoclonus, Acroparesthesia	ORPHA:101030
Hydranencephaly	Seizure, Spastic diplegia, Infantile sensorineural hearing impairment, Opisthotonus	ORPHA:2177
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Hypotonia...	OMIM:613839
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Axial hypotonia, Aplasia of the semicircular canal, Sensorineural...	OMIM:611584
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Hypotonia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper...	ORPHA:530983
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Axial hypotonia, Vocal cord paralysis, Seizure, Myoclonus, Dystonia, Spasticity	ORPHA:500144
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Axial hypotonia, Infantile spasms, Chorea, Spastic tetraplegia, Gai...	OMIM:618321
Schinzel-Giedion Midface Retraction Syndrome	Hyperconvex nail, Opisthotonus, Seizure, Hypoplastic nipples, Low-set ears, Hypertrichosis	OMIM:269150
Keppen-Lubinsky Syndrome	Seizure, Hypertonia, Spastic tetraparesis, Opisthotonus	ORPHA:435628
Ataxia-Telangiectasia	Ataxia, Tremor, Abnormal hair morphology, Slurred speech, Choreoathetosis, Seizure, Progressive c...	OMIM:208900
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:613155
Microtriplication 11Q24.1	Speech apraxia, Attached earlobe, Posteriorly rotated ears, Synophrys, Seizure, Hyperkinetic move...	ORPHA:289522
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi...	OMIM:620141
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Hypotonia, Compulsive behaviors, S...	OMIM:618430
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Abnormality of hair texture, Myoclonus, Low-set ears, Oculom...	ORPHA:2752
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Seizure, Positive Romb...	ORPHA:70595
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Writer's cramp, Paresthesia, Irregular hyperpigmentatio...	ORPHA:428
Peho Syndrome	Seizure, Severe muscular hypotonia, Myoclonus, Generalized hypotonia	OMIM:260565
Cog8-Cdg	Seizure, Ataxia, Myoclonus, Infantile muscular hypotonia	ORPHA:95428
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Hypertonia, Gait disturbance, Co...	OMIM:300986
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Dystonia	OMIM:168601
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Hypotonia, Seizure, Myoclonus, Generalized hypotonia	OMIM:614462
Short Stature, Developmental Delay, And Congenital Heart Defects	Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behavior...	OMIM:617044
Combined Oxidative Phosphorylation Deficiency 57	Sensorineural hearing impairment, Hypotonia, Seizure, Myoclonus, Dystonia	OMIM:620167
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 42	Myoclonic seizure, Limb dystonia, Infantile axial hypotonia, Tonic seizure, Focal hemiclonic seiz...	OMIM:616973
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, Ge...	OMIM:618342
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Sensorineural hearing impairment, Hypotonia, Seizure, Status epilepticus, Myoclon...	OMIM:607426
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ...	ORPHA:33543
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Sensorineural hearin...	OMIM:607459
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Developmental And Epileptic Encephalopathy 72	Axial hypotonia, Hyperkinetic movements, Infantile spasms	OMIM:618374
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Rett Syndrome	Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty ...	ORPHA:778
X-Linked Intellectual Disability, Cantagrel Type	Neonatal hypotonia, Abnormal repetitive mannerisms, Tetraparesis	ORPHA:85277
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Axial hypotonia	OMIM:619877
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Dysmetria, Ankle clonus, Seiz...	ORPHA:139396
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Generalized hypotonia, Onycho...	OMIM:182290
Whipple Disease	Generalized hyperpigmentation, Ataxia, Abnormal pyramidal sign, Seizure, Myoclonus	ORPHA:3452
Leukodystrophy, Hypomyelinating, 10	Axial hypotonia, Babinski sign, Prominent eyelashes, Seizure, Hyperkinetic movements, Low-set ear...	OMIM:616420
Angelman Syndrome	Broad-based gait, Ataxia, Blue irides, Limb tremor, Obesity, Clumsiness, Seizure, Progressive gai...	OMIM:105830
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Developmental And Epileptic Encephalopathy 100	Axial hypotonia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset sei...	OMIM:619777
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Hypotonia, Gait ataxia, Seizure, Hyperkinetic movements, Bilateral sensori...	OMIM:620089
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Axial hypotonia, Involuntary movements, Dysphagia, Spasticity, Abnormal repetitive mannerisms	ORPHA:572013
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Bilateral tonic-clonic seizure, Highly arched eyebrow, Supernumerary nipple, Thickened he...	ORPHA:247262
Cerebral Creatine Deficiency Syndrome 1	Speech apraxia, Broad-based gait, Axial hypotonia, Dystonia, Aggressive behavior, Hypotonia, Hype...	OMIM:300352
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur...	OMIM:254780
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Bruxism, Athetosis, Generalized hypotonia, Apraxia, Neonatal ...	OMIM:613454
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microtia, Ocular albinism, Myoclonus, Cupped ear	ORPHA:1352
Dystonia-Aphonia Syndrome	Oromandibular dystonia, Seizure, Generalized dystonia, Myoclonus	ORPHA:412217
Orofaciodigital Syndrome Iii	Hyperconvex nail, Myoclonus, Low-set ears	OMIM:258850
Early Infantile Epileptic Encephalopathy	Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset...	ORPHA:1934
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab...	OMIM:600430
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ataxia, Short stature, Ocular albinism, Abnormal pyramidal sign, Spasti...	ORPHA:2719
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Seizure, Spasticity, Myoclonus, Hypotonia	OMIM:246450
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Hypotonia, Seizure, Myoclonus, Dystonia	OMIM:619167
Serotonin Syndrome	Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus	ORPHA:43116
Developmental And Epileptic Encephalopathy 2	Generalized-onset seizure, Multifocal seizures, Infantile spasms, Hypotonia, Seizure, Myoclonus, ...	OMIM:300672
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Intellectual Developmental Disorder, X-Linked 12	Tremor, Sensorineural hearing impairment, Hypotonia, Seizure, Hyperkinetic movements, Spasticity	OMIM:300957
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Galloway-Mowat Syndrome 10	Hypotonia, Myoclonus	OMIM:619609
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia	OMIM:615637
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Bulimia, Hypo...	OMIM:300912
Combined Oxidative Phosphorylation Deficiency 11	Severe muscular hypotonia, Seizure, Tongue fasciculations, Generalized hypotonia, Myoclonus, Hear...	OMIM:614922
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Abnormal...	OMIM:620292
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, Abnormal repetitive mannerisms	ORPHA:927
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Sensorineural hearing impairment, ...	ORPHA:163746
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus	ORPHA:168593
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Poor coordination, Hypotonia, Poor fine motor coordination, A...	OMIM:620242
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Incoordination, Facial hypotonia, Impaired pain sensation, Hypotonia, Gait ataxia, Abnormal repet...	OMIM:616579
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Infantile spasms, Sensorineural hearing impairment, Hypotonia, Seizure...	OMIM:612073
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Hypotonia, Myoclonus, Gene...	OMIM:615816
Fatal Familial Insomnia	Ataxia, Myoclonus	OMIM:600072
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Seizure, Giant melan...	OMIM:214500
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Hypotonia	OMIM:613443
Melas	Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Sen...	ORPHA:550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Axial hypotonia, Ataxia, Postural tremor, Babinski sign, Hypotonia, Seizure, Lower limb hypertoni...	OMIM:301072
Pseudohypoparathyroidism Type 2	Laryngeal dystonia, Hypocalcemic seizures, Paresthesia, Myoclonic spasms	ORPHA:94090
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Truncal ataxia, Seizure, Hyperkinetic movements, Infantile muscular hypotonia	ORPHA:369847
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Somatic sensor...	ORPHA:167
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Dysphagia, Abnormal repet...	OMIM:619435
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Synophrys, Hypot...	ORPHA:447997
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Generalize...	OMIM:618914
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia, Hypotonia, Head tremor	OMIM:619428
Brain-Lung-Thyroid Syndrome	Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Sensorineural hearing impairment...	ORPHA:209905
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Hypotonia, Choreoathetosis, Seizure, H...	ORPHA:391428
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples...	OMIM:103285
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Ataxia, Photosensitive tonic-clonic seizure, Hypotonia, Seizure, Hyperkinetic movements, Generali...	OMIM:300243
Crome Syndrome	Seizure, Short stature, Cerebellar dysplasia	OMIM:218900
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Generalized hypotonia, Spasticity, Abnormal repetitive mannerisms, Se...	OMIM:300486
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Hypertonia, Hypotonia, Hyperkinetic movements	OMIM:236270
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Thickened helices, Asymmetry of the ears, Sparse eyebrow, Synophrys, Patch...	ORPHA:3063
Lhermitte-Duclos Disease	Seizure, Trichilemmoma, Enlarged cerebellum, Ataxia	ORPHA:65285
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Axial hypotonia, Bilateral tonic-clonic seizure with generalized onset, Highly a...	OMIM:619124
Optic Atrophy 11	Ataxia, Gait apraxia, Hypotonia, Dysmetria, Seizure, Athetosis, Hyperkinetic movements, Macrotia,...	OMIM:617302
Alg3-Cdg	Hypopigmentation of the skin	ORPHA:79321
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
48,Xxyy Syndrome	Ataxia, Tremor, Hypotonia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms	ORPHA:10
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Autoimmune Hypoparathyroidism	Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures	ORPHA:36913
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb...	ORPHA:646
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Axial hypotonia, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder...	ORPHA:313892
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Action tremor, Gait ataxia, Myoclonus, Intention tremor	OMIM:254900
Combined Oxidative Phosphorylation Deficiency 14	Hypotonia, Myoclonic seizure, Seizure, Myoclonus, Hearing impairment	OMIM:614946
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized myoclonic seizure, Facial hypotonia, Infantile spasms, Action tremor, Chorea, General...	ORPHA:404454
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp...	ORPHA:98784
Joubert Syndrome 6	Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia, Hypotonia	OMIM:610688
Vici Syndrome	Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Ocular albinism, Hypotonia,...	OMIM:242840
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia	ORPHA:238750
Microcephaly 29, Primary, Autosomal Recessive	Seizure, Ataxia, Enlarged cerebellum, Thick eyebrow	OMIM:620047
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo...	ORPHA:90354
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Speech apraxia, Abnormal repetitive mannerisms, Generalized hypotonia	ORPHA:529965
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Dystonia, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkine...	ORPHA:522077
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Hypotonia	OMIM:614857
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Hypotonia, Self-injurious behavior, Compulsive b...	OMIM:617061
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali...	OMIM:614077
Niemann-Pick Disease, Type C2	Dystonia, Ataxia, Hypotonia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms	OMIM:607625
Snijders Blok-Campeau Syndrome	Speech apraxia, Broad-based gait, Unsteady gait, Hypotonia, Attention deficit hyperactivity disor...	OMIM:618205
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Tetraplegia, Fasciculations, Progressive spasticity, Dysphagia, Cataplexy, Spas...	ORPHA:496641
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Gait imbalance, Attention deficit hy...	OMIM:619312
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Ataxia, Bilateral tonic-clonic seizure, Hypotonia, Seizure, Hypertonia, Myoclonus, Generalized hy...	OMIM:618426
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Vici Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of the skin	ORPHA:1493
Dyskeratosis Congenita, Autosomal Dominant 2	Reticulated skin pigmentation, Premature graying of hair, White forelock, Nail dystrophy, Nail dy...	OMIM:613989
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Cerebellar vermis hypoplasia, Infantile spasms, Focal-onset seizure, Parap...	ORPHA:98889
Cri-Du-Chat Syndrome	Hyperactivity, Aggressive behavior, Hypertonia, Difficulty walking, Neonatal hypotonia, Abnormal ...	OMIM:123450
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Hypotonia, Dysmetria, Myoclo...	OMIM:615273
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Self-biting, Generalized hypotonia, Abnormal repetitive manne...	ORPHA:3306
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms, Hypotonia	OMIM:618067
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Generalized hypotonia, Tics, Attention deficit hyperactivity diso...	OMIM:617808
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Paternal Uniparental Disomy Of Chromosome 1	Neonatal hypotonia, Seizure, Pain insensitivity, Myoclonus	ORPHA:251004
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ...	OMIM:607485
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, Generalized hypotonia	OMIM:619055
Crouzon Syndrome	Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Slc35A2-Cdg	Hypopigmentation of the skin	ORPHA:356961
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin	OMIM:163200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Hypotonia, Generalized hypotonia, Dysphagia, Abnormal repetitive mannerisms	OMIM:617802
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy...	ORPHA:678
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Hypotonia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Ge...	OMIM:615656
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Synophrys, Generalized...	OMIM:619297
Pilarowski-Bjornsson Syndrome	Speech apraxia, Abnormal repetitive mannerisms, Hypotonia	OMIM:617682
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Hypotonia	ORPHA:228384
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Generalized hypotonia, Oral-pharyngeal dysphagia	OMIM:610883
Neuroblastoma, Susceptibility To, 1	Ataxia, Myoclonus	OMIM:256700
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:101330
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Hypotonia, Self-injurious behavior, Abnormal temper tantrums,...	ORPHA:449291
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Axial hypotonia, Babinski sign, Hypotonia, Hypertonia, Inappropriate laughter, Neonatal hypotonia...	OMIM:615802
Hydroxykynureninuria	Hypertonia, Abnormal repetitive mannerisms	ORPHA:79155
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t...	OMIM:263700
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Infantile axial hypotonia, Inability to walk, Spastic tetraplegia, S...	ORPHA:300570
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Limb dystonia, Neonatal hypotonia, Spasticity, Abnorm...	ORPHA:457351
Combined Oxidative Phosphorylation Defect Type 29	Abnormal muscle tone, Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Impaired pain sensation, P...	OMIM:176270
Leigh Syndrome	Alopecia, Ataxia, Involuntary movements, Infantile spasms, Frontal hirsutism, Chorea, Sensorineur...	ORPHA:506
Farber Disease	Infantile spasms, Paraparesis, Seizure, Myoclonus, Infantile muscular hypotonia, Spasticity	ORPHA:333
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Hypotonia, Seizure, Myoclonus, Spasticity	ORPHA:20
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail...	ORPHA:2909
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Abnormal rep...	ORPHA:261197
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Ataxia, Paralysis, Hypotonia, Hypertonia, Status epilepticus, Myocl...	OMIM:203700
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Generalized hypopigmentation, Iris transillumination defect	OMIM:617306
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Coffin-Siris Syndrome 7	Hyperactivity, Severe temper tantrums, Hypotonia, Compulsive behaviors, Abnormal repetitive manne...	OMIM:618027
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin	OMIM:276300
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Dystonia, Neonatal hypotonia, Acti...	ORPHA:66634
Curry-Jones Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Sensorineural hearing impairment, Choreoathetosis, Seizure, Hypertonia, Hyperkinetic movements, M...	ORPHA:17
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Pgm3-Cdg	Mild neurosensory hearing impairment, Ataxia, Sensorineural hearing impairment, Seizure, Myoclonu...	ORPHA:443811
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Joubert Syndrome 1	Hemifacial spasm, Ataxia, Highly arched eyebrow, Hypotonia, Low-set ears, Generalized hypotonia, ...	OMIM:213300
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Axial hypotonia, Pica, Hypotonia, Obsessive-compulsive trait, Abnormal repetitive ...	OMIM:617796
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia	ORPHA:397612
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Generalized hypotonia, Neon...	ORPHA:457279
Bloom Syndrome	Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation, Hypertrichosis	OMIM:210900
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Axial hypotonia, Ataxia, Bilateral tonic-clonic seizure, Thin nail, Vocal ...	OMIM:617799
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivi...	OMIM:618354
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Smith-Magenis Syndrome	Impaired pain sensation, Hypotonia, Self-injurious behavior, Gait disturbance, Attention deficit ...	ORPHA:819
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair	OMIM:608233
Cystinosis	Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign, Gait disturbance	ORPHA:213
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms, Hypotonia	OMIM:617751
3P25.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Ataxia, Hypotonia, Attention deficit hyperactivity disorder	ORPHA:435638
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Compulsive behaviors	OMIM:613174
Cerebrotendinous Xanthomatosis	Resting tremor, Somatic sensory dysfunction, Dystonia, Ataxia, Parkinsonism, Abnormal auditory ev...	ORPHA:909
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches	ORPHA:96061
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Increased body weight, S...	ORPHA:398069
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe...	OMIM:222470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Hypotonia, Seizure, Athetosis, Hyperkinetic mov...	OMIM:615356
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches	ORPHA:47
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221008
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr...	ORPHA:84064
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Hypertonia, Generalized hypotonia, Abnormal repetitive manner...	OMIM:212066
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder, Overfriendli...	OMIM:619293
Incontinentia Pigmenti	Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Supernumerary nipple, Abnormal ...	ORPHA:464
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio...	ORPHA:98754
Sialuria	Seizure, Hyperkinetic movements, Generalized hypotonia, Low-set ears	ORPHA:3166
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:1647
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypotonia, Compulsive b...	ORPHA:1727
Hypotonia, Ataxia, And Delayed Development Syndrome	Speech apraxia, Pain insensitivity, Broad-based gait, Ataxia, Axial hypotonia, Dysmetria, Gait at...	OMIM:617330
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ...	ORPHA:221016
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia, Hypotonia	ORPHA:2479
White-Sutton Syndrome	Waddling gait, Hyperactivity, Facial hypotonia, Aggressive behavior, Hypotonia, Self-injurious be...	OMIM:616364
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio...	ORPHA:177904
Lathosterolosis	Seizure, Myoclonus, Hypotonia, Hearing impairment	ORPHA:46059
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Short stature, Small for gestational age, Impaired temperature sensatio...	ORPHA:177901
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor,...	OMIM:619475
Ethylene Glycol Poisoning	Seizure, Slurred speech, Ataxia, Myoclonus	ORPHA:31826
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms, Infantile muscular hypotonia	ORPHA:500159
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Hypotonia, Seizure, Hypertonia, Myoclonus, Fasciculations, Spasticity, Mac...	ORPHA:284339
Pseudohypoparathyroidism Type 1B	Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures	ORPHA:94089
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn...	ORPHA:1775
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Impaired temperature sensation, Seizure, Abdominal obesi...	ORPHA:739
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Bloom Syndrome	Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin	ORPHA:125
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:95159
Transketolase Deficiency	Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behavior...	ORPHA:488618
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Hypopigmented skin patches	ORPHA:2715
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclonus	ORPHA:466677
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Axial hypotonia, Tetraplegia, Seizure, Myoclonus, Dystonia	OMIM:618278
Listeriosis	Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Seizure, Myoclonus, Hearing impairment	ORPHA:533
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, Small nail	OMIM:251300
Kleefstra Syndrome 1	Aggressive behavior, Hypotonia, Generalized hypotonia, Compulsive behaviors, Abnormal repetitive ...	OMIM:610253
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized...	ORPHA:1896
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Hypopigmentation of the skin, Sparse hair	OMIM:252500
Bainbridge-Ropers Syndrome	Inability to walk, Hypotonia, Self-injurious behavior, Hypertonia, Generalized hypotonia, Recurre...	OMIM:615485
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
Harrod Syndrome	Hypopigmented skin patches	ORPHA:2115
Pitt-Hopkins Syndrome	Incoordination, Hypotonia, Gait ataxia, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Menkes Disease	Hypopigmentation of hair, Chorea, Hypotonia, Seizure, Hypertonia, Sparse hair, Woolly hair, Spast...	ORPHA:565
Pseudohypoparathyroidism Type 1A	Involuntary movements, Sensorineural hearing impairment, Choreoathetosis, Paresthesia, Myoclonic ...	ORPHA:79443
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Ataxia, Axial hypotonia, Aggressive behavior, Unsteady gait, Poo...	OMIM:614756
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ...	ORPHA:2637
White-Sutton Syndrome	Hyperactivity, Incoordination, Facial hypotonia, Aggressive behavior, Self-injurious behavior, Co...	ORPHA:468678
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation	OMIM:615789
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms, Hypotonia	ORPHA:261144
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Hypotonia, Aggressive behavior	OMIM:619695
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo	ORPHA:363958
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ...	ORPHA:233
Pseudohypoparathyroidism Type 1C	Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures	ORPHA:79444
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Hypopigmentation of the skin	OMIM:301066
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Paralysis...	ORPHA:297
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypotonia, Compulsive b...	ORPHA:1001
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment...	OMIM:305600
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Epileptic spasm, Exaggerated startle response, Involuntary movements, Seizure, Myoclonus, Dystoni...	ORPHA:438213
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj...	ORPHA:96121
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Doors Syndrome	Abnormal fingernail morphology, Bilateral tonic-clonic seizure, Low anterior hairline, Focal impa...	ORPHA:79500
Poliomyelitis	Paralysis, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:79277
Pediatric-Onset Graves Disease	Tremor, Hyperkinetic movements	ORPHA:525731
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Neonatal hypotonia, Abnormal r...	OMIM:619005
Kleefstra Syndrome	Aggressive behavior, Hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mut...	ORPHA:261494
Van Esch-O'Driscoll Syndrome	Impulsivity, Unilateral vocal cord paralysis, Hypotonia, Attention deficit hyperactivity disorder...	OMIM:301030
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm...	OMIM:219800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal pyramidal sign, Self-injurious behavior, Hypertonia, Hyperkinetic movements, Infantile a...	ORPHA:468631
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hypotonia, Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequ...	OMIM:619575
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ...	ORPHA:2907
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Short stature, Rhizomelia, Abnormal eyelash morphology, Growth delay, S...	ORPHA:818
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Abnormal repetitive mannerisms, Hypotonia, Infantile muscular hypotonia	OMIM:301040
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling	ORPHA:910
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches	ORPHA:183
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hemiparesis, Seiz...	ORPHA:2495
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia,...	OMIM:620330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Severe muscular hypotonia, Seizure, Myoclonus, Generalized hypotonia, Spasticity	OMIM:253280
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypop...	ORPHA:636
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Hypotonia, Gait ataxia, Stereotypical body rock...	ORPHA:513456
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Spondyloenchondrodysplasia With Immune Dysregulation	Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo	OMIM:607944
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Hypotonia, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums...	OMIM:619512
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Hypotonia, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Oculocerebrorenal Syndrome Of Lowe	Generalized hypopigmentation, Sparse scalp hair, Fine hair	ORPHA:534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia, Difficulty walking	OMIM:618653
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:95455
Systemic Sclerosis	Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Nail bed telangiectasia	ORPHA:90291
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Generalized hypopigmentation, Alopecia	OMIM:619321
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
Arboleda-Tham Syndrome	Axial hypotonia, Dystonia, Hypotonia, Lower limb hypertonia, Gait imbalance, Generalized hypotoni...	OMIM:616268
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Hypotonia, Compulsive behaviors, Dysphagi...	OMIM:615873
Pitt-Hopkins Syndrome	Hypopigmented skin patches, Supernumerary nipple	ORPHA:2896
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:797
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abn...	ORPHA:2556
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Poor coordination, Spastic diplegia, Generalized hypotonia, Abnormal repetitive ma...	OMIM:309590
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity disorder	ORPHA:464311
Fanconi Anemia	Multiple cafe-au-lait spots, Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypop...	ORPHA:84
Dyrk1A-Related Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Gait disturbance	ORPHA:464306
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Axial hypotonia, Spastic tetraparesis, Hypertonia, Generalized hypotonia, Abnormal repetitive man...	OMIM:301044
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus	ORPHA:201
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms, Hypotonia	OMIM:616682
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Ogden Syndrome	Torticollis, Hypotonia, Hypertonia, Dysphagia, Abnormal repetitive mannerisms	OMIM:300855
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma...	ORPHA:580
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Self-...	ORPHA:353281
1P36 Deletion Syndrome	Hemiplegia/hemiparesis, Polyphagia, Hypotonia, Self-injurious behavior, Gait disturbance, Dysphag...	ORPHA:1606
Sotos Syndrome	Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:821
22Q11.2 Deletion Syndrome	Hypopigmented skin patches	ORPHA:567
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Axial hypotonia, Tremor, Hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Primrose Syndrome	Restlessness, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Tics, Attention de...	OMIM:259050
Norrie Disease	Clonus, Hypotonia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder,...	ORPHA:649
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Self-...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Hypotonia, Self-...	ORPHA:353277
Mend Syndrome	Spotty hypopigmentation	ORPHA:401973
Mend Syndrome	Spotty hypopigmentation	OMIM:300960
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Hypotonia, Attention deficit hyperactivity disorder, Dysphagia, Abn...	OMIM:619522
Lowe Oculocerebrorenal Syndrome	Neonatal hypotonia, Abnormal repetitive mannerisms, Hypotonia, Aggressive behavior	OMIM:309000
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms, Hypotonia, Oral motor hypotonia	OMIM:619325
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Hypotonia, Dysphagia, Bruxi...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Poor fine motor coordina...	ORPHA:261537
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms, Generalized hypotonia	OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Impaired pain sensation, Inability to walk, Dysphagia, Poor fine motor coordina...	ORPHA:261552

Histopathology

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

There is no histopathology data for Myo5a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myo5a.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myo5a^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Myo5a^{tm1a(KOMP)Wtsi}	PMC6459510
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.	PLoS genetics (October 2014)	Myo5a^{tm1e(KOMP)Wtsi}	PMC4207618
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.	Nature communications (April 2014)	Myo5a^{tm1a(KOMP)Wtsi}	PMC3996542
Absence of platelet phenotype in mice lacking the motor protein myosin Va.	PloS one (January 2013)	Myo5a^{tm1e(KOMP)Wtsi}	PMC3548825

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Myo5a^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Myo5a^{tm37450(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Myo5a^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Myo5a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice
Myo5a^{tm288590(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Myo5a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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