Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mucolipin 3
Synonyms:
varitint-waddler,  Va,  6720490O21Rik,  TRPML3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mcoln3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mcoln3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Waardenburg Syndrome, Type 2B
White forelock, Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair OMIM:600193
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Deafness, Congenital, With Total Albinism
Hearing impairment, Albinism OMIM:220900
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Hearing impairment, Multiple cafe-au-lait spots, Hypopigmente... ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Seizure, Low-set ears, EEG abnormality, Cafe-au-lait spot, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Albinism, Aganglionic megacolon OMIM:600501
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Partial albinism, Piebaldism, Congenital sensorineu... OMIM:300700
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Sensorineural hearing impairment, Partial albi... ORPHA:998
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy, Hyperactivity OMIM:300271
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Hearing impairment, Thick eyebrow, Generalized hirsutism ORPHA:2222
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, Hearing impairment, White forelock OMIM:172850
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Autism, Susceptibility To, X-Linked 3
Seizure, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300496
Autism, Susceptibility To, X-Linked 2
Seizure, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300495
Autism, Susceptibility To, 8
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300425
Autism
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:608636
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, Seizure, Status epilepticus, Attention deficit hyperactivity disorder,... OMIM:617665
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Seizure, Gait ataxia, Incoordination, Fair hair OMIM:618808
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Bilateral sensorineural hearing impairment, Generalized hypopigme... OMIM:103500
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Numerous pigmented f... OMIM:601706
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613265
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Premature graying of hair, Intention tremor OMIM:190200
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Hearing impairment, Se... ORPHA:895
Mental Retardation, Autosomal Dominant 45
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors OMIM:608631
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Seizure, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Abnormality of the ear, Absent pigmentati... OMIM:172800
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Hypertonia, Ataxia, Seizure, General... ORPHA:33445
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Attention deficit hyperactivity disorder, Stereotypy, Ataxia OMIM:618709
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
N-Acetylaspartate Deficiency
Seizure, Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Spastic diplegia, Seizure, Status epilepticus, Stereotypy, Opt... OMIM:617830
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Rigidity, General... OMIM:618090
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Adult onset sensorineural hearing impairment, Giant melanosomes in melanocytes, Albinism OMIM:300650
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Focal-onset seizure, Poor coordination, Paroxysmal dyskinesia, Ataxia, Seizure,... OMIM:619150
Mental Retardation, Autosomal Recessive 37
Seizure, Hyperactivity, Spasticity OMIM:615493
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Hyperprolinemia, Type I
Ataxia, Seizure, Status epilepticus, Stereotypy, Hyperactivity OMIM:239500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Tortico... OMIM:618425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Tremor, Stereotypy, Ataxia OMIM:617862
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure ORPHA:22
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Spasticity ORPHA:356996
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia, Vertigo, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Stat... OMIM:618924
Elejalde Disease
Melanin pigment aggregation in hair shafts, Silver-gray hair, Ataxia, Seizure, Accumulation of me... OMIM:256710
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Chorea, Focal-onset seizure, Stereoty... OMIM:618760
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Focal-onset seizure... OMIM:619317
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia... OMIM:104290
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Hyperactivit... OMIM:615924
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Epilepsy, Familial Adult Myoclonic, 3
Tremor, EEG with photoparoxysmal response, Difficulty walking, Focal-onset seizure, Bilateral ton... OMIM:613608
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG with focal epileptifo... ORPHA:88616
Intellectual Developmental Disorder, X-Linked 104
Tremor, Poor eye contact, Abnormality of the pinna, Ataxia, Seizure, Hyperactivity, Spasticity OMIM:300983
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Seizure, Somatic sensory dysfunctio... ORPHA:320401
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Difficulty walking, Focal-onset seizure, Gait disturbance, Poor eye co... ORPHA:505652
Epilepsy, Familial Adult Myoclonic, 1
Tremor, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure, Giant somatosensory ev... OMIM:601068
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Low anterior hairline, Generalized tonic seizure, Hypsarrhythmia, Atonic seizu... ORPHA:411986
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair ORPHA:66633
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Synophrys, Stereotypy, Hyperactivity OMIM:615541
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal hemiclonic seizure, Interictal epilep... ORPHA:725
Landau-Kleffner Syndrome
Interictal EEG abnormality, Speech apraxia, Focal myoclonic seizure, Bilateral tonic-clonic seizu... ORPHA:98818
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Myoclonic-Astatic Epilepsy
Atonic seizure, Interictal epileptiform activity, Simple febrile seizure, Bilateral tonic-clonic ... ORPHA:1942
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Seizure, EEG abnormality, Hyperactivity,... ORPHA:411515
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hypermelanotic macule, Bilateral tonic-clonic seizure, Status e... OMIM:609056
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Aganglionic megacolon, Synophrys, ... ORPHA:2884
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity OMIM:617796
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Impaired social interaction... ORPHA:3095
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Difficulty walking, Stereotypy, Spasticity OMIM:617393
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Spastic paraparesis, Aganglionic ... OMIM:277580
Urocanase Deficiency
Tremor, Blue irides, Ataxia, Fair hair OMIM:276880
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Bilateral tonic-clonic seizure, Seizure, Alopecia, Woolly hair, W... OMIM:601217
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, EEG with focal epileptiform discharges, Gait imb... ORPHA:98795
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Microcephaly, Seizures, And Developmental Delay
Seizure, Ataxia, Hyperactivity OMIM:613402
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Abnormal pyramidal sign, At... OMIM:607208
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, E... ORPHA:2382
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Seizure, Stereotypy, Generalized myoclonic seizure OMIM:616341
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, EEG with spike-wave complexes, Chorea, Absence seizure with ... OMIM:618587
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Focal-onset seizure, Hypertoni... OMIM:619092
Foxg1 Syndrome
Inability to walk, Impaired social interactions, Dystonia, Difficulty walking, Focal-onset seizur... ORPHA:561854
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Hearing impairment, Brittle hair, Alopecia,... ORPHA:2889
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Bilateral to... ORPHA:100988
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Impaired social interactions, Macrotia, Hyperkinetic movements, Seizure, Stereotypical hand wringing ORPHA:397933
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... ORPHA:206443
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor eye contact, Poor coordination... OMIM:617695
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, EE... ORPHA:268947
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Bilateral tonic-clonic seizure, Seizure, Enhancement of the C-reflex, Myoclonus, Jerk-loc... OMIM:615127
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Interictal epileptiform activity, Bilateral tonic-clon... ORPHA:1929
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involun... OMIM:618218
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule ORPHA:79455
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Shukla-Vernon Syndrome
Sparse hair, Seizure, Stereotypy, Attention deficit hyperactivity disorder, Broad-based gait OMIM:301029
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Poor eye contact, Spasticity, Ataxia, Status epilepticus, Generalized non-motor (absenc... OMIM:300912
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Griscelli Syndrome Type 1
Iris hypopigmentation, Premature graying of hair, Hypertonia, White hair, Ataxia, Seizure, Partia... ORPHA:79476
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hirsutism, Hyperactivity ORPHA:85288
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hemifacial Atrophy, Progressive
Poliosis, Ataxia, Seizure, Patchy alopecia, Microtia, Horner syndrome OMIM:141300
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bilateral tonic-clonic seizure, Bradykinesia, Parkinson... OMIM:300423
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Vestibula... ORPHA:52368
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:248111
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Chorea, Atonic seizur... ORPHA:178469
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Mental Retardation, Autosomal Dominant 34
Curly hair, Coarse hair, Bilateral tonic-clonic seizure, Synophrys, Hearing impairment, Stereotyp... OMIM:616351
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Difficulty walking, Seizure, Waddling gait, Babinski sign, Stereotypy, Progres... ORPHA:280763
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Focal-onset seizure, Ataxia, Seizure, Stereotypy, Hyperactivity, Ge... OMIM:610042
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, X-Linked 101
Seizure, Macrotia, Hyperactivity OMIM:300928
Bilateral Generalized Polymicrogyria
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:208447
Syngap1-Related Developmental And Epileptic Encephalopathy
Impaired social interactions, Tremor, Eating-induced seizure, Macrotia, Anteverted ears, Gait dis... ORPHA:544254
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy, Hyperactivity OMIM:609425
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Delayed menarche, B... ORPHA:330050
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Atonic sei... ORPHA:36387
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Seizure, Hyperactivity OMIM:604317
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, Bilateral tonic-clonic seizure, Ataxia, EEG with polyspike wave co... OMIM:254800
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Seizure, Clonic seizure, Spastic tetraplegia, Stereotypy OMIM:615282
Obesity, Hyperphagia, And Developmental Delay
Seizure, Poor eye contact, Stereotypy OMIM:613886
Late Infantile Neuronal Ceroid Lipofuscinosis
Atonic seizure, Myoclonic seizure, Hyperactivity, Spasticity, Cortical myoclonus, EEG with spike-... ORPHA:168491
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Seizure, Low-set ears, EEG abnormality, Stereotypy, Hyperactivity, Spa... OMIM:618718
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Seizure, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, ... OMIM:617519
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Spasticity, Seizure, Hearing impairment, Hyperactivity, Broad-b... ORPHA:457260
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Long eyelashes, Synophrys, Low-set ears, Posteriorly rotated ears, Thick e... OMIM:617773
Rare Non-Syndromic Intellectual Disability
Dystonia, Difficulty walking, Bilateral tonic-clonic seizure, Seizure, Hearing impairment, Spasti... ORPHA:101685
Aminoacylase 1 Deficiency
Seizure, Sensorineural hearing impairment, Hyperactivity OMIM:609924
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Gait imbalance, Ataxia, Seizure, EEG abnormality... ORPHA:411511
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Tremor, Gait imbalance, Ataxia, Seizure, EEG abn... ORPHA:98794
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Heterochromia iridis, White eyebrow, Spastic paraparesis, D... OMIM:609136
Episodic Ataxia Type 4
Incoordination, Vertigo, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Normal in... ORPHA:306
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... ORPHA:999
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Prolonged brainstem auditory evoked potentials, Impaired t... ORPHA:206448
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, My... ORPHA:726
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Hypertonia, Seizure, Low-set ears, Stereotypy, Hyperactivity, Repetitive c... ORPHA:352490
Classic Phenylketonuria
Hemiplegia, Hypopigmentation of hair, Tremor, Hypertonia, Seizure, Paraplegia, Hypopigmentation o... ORPHA:79254
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Sensorineural hearing impairment, Abnorm... ORPHA:99027
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Babinski sign OMIM:619065
Bart-Pumphrey Syndrome
Hearing impairment, Leukonychia OMIM:149200
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
Coffin-Siris Syndrome 8
Long eyelashes, Sparse scalp hair, Seizure, Thick eyebrow, Hyperactivity OMIM:618362
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anonychia, Scarring alopecia of scalp, Sparse body hair, Nail d... ORPHA:79402
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Seizure, Stereotypy, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sacral hypertrichosis, Highly arched eyebrow, Inability to walk, EEG with frontal sharp slow wave... ORPHA:457351
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia,... OMIM:607876
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Seizure, Stereotypy OMIM:618906
Alazami-Yuan Syndrome
Highly arched eyebrow, Low anterior hairline, Hirsutism, Long eyelashes, Synophrys, Thick eyebrow... OMIM:617126
Pontocerebellar Hypoplasia, Type 14
Delayed social development, Dystonia, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic sei... OMIM:619301
Hypotrichosis With Juvenile Macular Degeneration
Freckling, Melanocytic nevus, Sparse scalp hair, Brittle hair, Fine hair, Pili torti ORPHA:1573
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculati... ORPHA:276198
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Ectodermal Dysplasia, Trichoodontoonychial Type
Irregular hyperpigmentation of back, Mild neurosensory hearing impairment, Absent nipple, Sparse ... OMIM:129510
Autism, Susceptibility To, 3
Seizure, Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behav... OMIM:608049
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Ataxia, Stat... ORPHA:363400
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Dysm... OMIM:618093
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hirsutism, Hyperactivity OMIM:300434
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Glycine Encephalopathy
Seizure, Lethargy, Myoclonus, Hyperactivity OMIM:605899
Phenylketonuria
Fair hair, Seizure, Hyperactivity, Generalized hypopigmentation, Blue irides, Attention deficit h... OMIM:261600
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Mental Retardation, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Unsteady gait, Recurrent ... OMIM:615516
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Seizure precipitated by febrile infection, Interictal EEG abnormal... ORPHA:363558
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, EEG with continuous slow activity... ORPHA:275864
Mental Retardation, Autosomal Dominant 7
Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Thickened helices,... OMIM:614104
Ataxia-Telangiectasia
Hypopigmentation of hair, Tremor, Premature graying of hair, Gait disturbance, Ataxia, Seizure, M... ORPHA:100
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle ... OMIM:104100
Mannosidosis, Beta A, Lysosomal
Seizure, Hearing impairment, Hyperactivity OMIM:248510
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Seizure, Stereotypical hand wringing, Hypsarrhythmia, Spasticity ORPHA:500545
Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Seizure, Thick eyebrow, Hyperactivity OMIM:300979
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Atonic seizure, Slurred speech, Gai... ORPHA:93952
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Thick eyebrow, Stereotypy, Generalized-onset sei... ORPHA:85278
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, High anterior hairline, Recurrent hand flapping, Spasticity OMIM:618859
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... ORPHA:263516
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Poor eye contact, Abnormality of the pinna, Seizure, U... OMIM:617807
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Ataxia, Synophrys, Seizure, Stereotypy, Hyperactivity, Generalized hirsutism ORPHA:228402
Developmental And Epileptic Encephalopathy 87
Horizontal eyebrow, Hypsarrhythmia, Hypertonia, Seizure, Recurrent hand flapping, Infantile spasms OMIM:618916
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Abnormal social behavior, Punding,... ORPHA:64280
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Gand Syndrome
Tics, Sparse hair, Hyperactivity OMIM:615074
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Seizure, Hyperactivity, Tetraplegia OMIM:274270
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Seizure, Stereotypy, Upper motor neuron dysfunction, Hyperactivity ORPHA:530983
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... OMIM:619157
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Fragile X Syndrome
Macrotia, Poor eye contact, Seizure, Hyperactivity, Abnormal head movements OMIM:300624
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Spasticity, Oculomotor apraxia... OMIM:614487
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Paresthesia, Hypsarrhythmia, EEG with focal epileptiform discharges, ... ORPHA:98820
Pontocerebellar Hypoplasia, Type 15
Delayed social development, Dystonia, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic sei... OMIM:619302
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:79137
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... OMIM:601455
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Spinocerebellar atrophy, Difficulty walking, Progressive cere... ORPHA:95433
Angelman Syndrome
Atonic seizure, Hyperactivity, Iris hypopigmentation, Poor eye contact, Ataxia, Fair hair, Hypopi... ORPHA:72
Autosomal Recessive Spastic Paraplegia Type 23
Spastic paraplegia, Vitiligo, Silver-gray hair, Seizure, Spastic gait, Waddling gait, Multiple le... ORPHA:101003
Xq25 Microduplication Syndrome
Seizure, Highly arched eyebrow, Sparse eyebrow, Hyperactivity ORPHA:521258
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Paresthesia, Impa... ORPHA:101085
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Smith-Magenis Syndrome
Impaired pain sensation, Morphological abnormality of the middle ear, Synophrys, Abnormality of t... OMIM:182290
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Hyperac... OMIM:617302
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Paroxysmal dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform ... ORPHA:98784
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Interictal EEG abnormality, Pigmentary retinopathy, Poor motor coordination, Poor fin... ORPHA:79264
4Q21 Microdeletion Syndrome
Tremor, Long eyelashes, Synophrys, Seizure, Low-set ears, Hearing impairment, Stereotypy, General... ORPHA:238750
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), EEG with generalized spikes, Visua... OMIM:615369
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking, Pigmentary retinopathy OMIM:204000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Bilateral tonic-clonic seizure, Focal tonic seizure, Generalized n... ORPHA:485350
Radio-Tartaglia Syndrome
Low anterior hairline, Highly arched eyebrow, Tremor, Small nail, Large earlobe, Conductive heari... OMIM:619312
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia OMIM:613670
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Macrotia, Seizure, Thick eyebrow, EEG abnormality, Recurrent hand flapping OMIM:617268
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Difficulty walking, Spasticity, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal ... ORPHA:464282
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Mental Retardation, Autosomal Recessive 41
Seizure, Stereotypy OMIM:615637
Snijders Blok-Campeau Syndrome
Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Focal-onset seizure, Abnormal autonomic nervous system ph... ORPHA:101046
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys, Seizure, Hearing impairment, Hyperactivity OMIM:252900
Familial Infantile Myoclonic Epilepsy
Clumsiness, Interictal EEG abnormality, Focal-onset seizure, Gait disturbance, Blepharospasm, Ata... ORPHA:352582
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Sparse scalp hair, Low-set ears, Thick eyebrow, Posteriorly rot... OMIM:618027
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia OMIM:172500
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dysplasia, Nail dystrophy OMIM:613988
Darier Disease
Abnormality of skin pigmentation, Abnormality of the nail, Abnormal hair morphology, Subungual hy... ORPHA:218
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Sparse body hair, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Seizure, Stereotypy, Progressive spasticity DECIPHER:45
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3... OMIM:609446
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Seizure, Lower limb spasticity, Parkinsonism, Hyperactivity, Focal EEG di... ORPHA:3077
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Recurrent otitis media, Seizure, EEG abnormality, Abnormal... ORPHA:391372
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Bilateral toni... ORPHA:457240
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, Sensorineural hearing impairment,... OMIM:613266
Leber Congenital Amaurosis 2
Eye poking, Pigmentary retinopathy OMIM:204100
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Lower limb spasticity, S... OMIM:609727
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spasticity, Oculomotor apraxia, Bilateral toni... ORPHA:313772
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Bilateral tonic-clonic seizure, Stat... ORPHA:529665
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Synophrys, Hypopigmented skin patches, Sensorine... OMIM:148820
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Sensorineural hearing impairment, Hyp... ORPHA:3214
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Nail dysplasia, Sparse and thin eyebrow, Sparse scalp hair OMIM:225050
Mental Retardation, Autosomal Dominant 48
Highly arched eyebrow, Abnormality of the pinna, Seizure, Low-set ears, Sensorineural hearing imp... OMIM:617751
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity OMIM:618342
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Synophrys, Seizure, Stereotypy, Hyperactivity, Hypogonadism ORPHA:3306
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, EEG wit... ORPHA:289266
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Cri-Du-Chat Syndrome
Overfriendliness, Premature graying of hair, Difficulty walking, Hypertonia, Abnormality of the p... OMIM:123450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Synophrys, Stereotypy, Hyperactivity, Premature ovarian insufficiency ORPHA:391307
Blepharophimosis-Impaired Intellectual Development Syndrome
Low anterior hairline, Highly arched eyebrow, Overfriendliness, Sparse eyebrow, Long eyelashes, S... OMIM:619293
Muenke Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmented ... ORPHA:53271
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Fair hair, Seizure, Limb tremor, EEG abnormality, Hyperactiv... OMIM:105830
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Thick eyebrow, Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Macrotia, Poor eye contact, Recurrent otitis media, Seizur... ORPHA:449291
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Rigidity, Dystonia, Hypertonia, Hemiballi... OMIM:618877
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Kohlschutter-Tonz Syndrome-Like
Hypsarrhythmia, Widow's peak, Focal myoclonic seizure, Spasticity, Generalized clonic seizure, Up... OMIM:619229
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys, Seizure, Hearing impairment, Hyperactivity OMIM:252920
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... ORPHA:247815
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
5Q14.3 Microdeletion Syndrome
Seizure, Thick eyebrow, Optic nerve hypoplasia, Stereotypy ORPHA:228384
Rubinstein-Taybi Syndrome 2
Hirsutism, Posterior helix pit, Long eyelashes, Hyperactivity OMIM:613684
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Impotence, Som... ORPHA:43
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Male hypogonadism, Difficulty walking, Gait disturbanc... ORPHA:139396
Intellectual Developmental Disorder, X-Linked 107
Macrotia, Hyperactivity OMIM:301013
Developmental And Epileptic Encephalopathy 2
Inability to walk, Multifocal seizures, Hypsarrhythmia, Poor eye contact, EEG with generalized sl... OMIM:300672
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Gait ataxia, Clumsiness, EEG with generalized epileptiform discharges, Bilater... ORPHA:1947
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Dystonia, Speech apraxia, Conductive hearing impairment, Paroxysmal... ORPHA:261197
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
48,Xxyy Syndrome
Infertility, Tremor, Azoospermia, Hypergonadotropic hypogonadism, Chronic otitis media, Ataxia, S... ORPHA:10
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Potocki-Lupski Syndrome
Poor eye contact, Seizure, Hearing impairment, EEG abnormality, Stereotypy, Hyperactivity OMIM:610883
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Sparse ... ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Macrotia, Pain insensitivity, Chorea, Poor eye contact, Ataxia, Status epilept... OMIM:300260
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Rett Syndrome, Congenital Variant
Impaired social interactions, Dystonia, Apraxia, Chorea, Poor eye contact, Seizure, Protruding ea... OMIM:613454
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Spastic dipl... ORPHA:206436
Childhood Disintegrative Disorder
Seizure, Impaired social interactions, Stereotypy ORPHA:168782
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:1941
Ogden Syndrome
Lethargy, Macrotia, Hypertonia, Low-set ears, Torticollis, Aplasia/Hypoplasia of the eyebrow, Abn... ORPHA:276432
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Dystonia, Gait disturbance, Seizure, Poor hand-eye coordination, St... OMIM:300352
Sotos Syndrome 3
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Truncal ataxia, Spastic gait, Spastic tetraplegia, Stereotypy, Dysmetria, ... OMIM:619121
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Bilateral sensorineural hearing impairment, Congenital sensorineural heari... ORPHA:73272
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Hypertonia, Bilateral tonic-clonic seizure, Synophrys, Low-set ears, Lower limb s... ORPHA:447997
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Synophrys, Seizure, Low-set ears, Thick eyebrow, Hearing impairment, Hype... OMIM:252940
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Seizure, ... ORPHA:79477
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypertonia, White hair, Ocular albinism, Ataxia, Seizure, Hearing impairme... ORPHA:2720
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, EEG with spike-wave complexes, EEG with series of focal spikes, Horizontal eyebrow, Cho... ORPHA:522077
Mental Retardation, Autosomal Recessive 13
Seizure, Synophrys, Hyperactivity OMIM:613192
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Tetraparesis, Ataxia, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impai... OMIM:619260
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Thick eyebrow, Stereotypy, Speech apraxia ORPHA:529965
Mental Retardation, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Synophrys, Seizure, Hearing impairment, Hyperactivity OMIM:252930
Mental Retardation, Autosomal Dominant 40
Low-set ears, Gait ataxia, Stereotypy, Impaired pain sensation OMIM:616579
Chromosome 5P13 Duplication Syndrome
Sparse hair, Seizure, Low-set ears, Stereotypy, Low posterior hairline OMIM:613174
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Overfriendliness, Incoordination, Spastic paraparesis, Horizontal eyebrow,... ORPHA:369891
Intellectual Developmental Disorder, X-Linked 21
Seizure, Uplifted earlobe, Synophrys, Hyperactivity OMIM:300143
Cockayne Syndrome Type 1
Tremor, Male hypogonadism, Pigmentary retinopathy, Macrotia, Difficulty walking, Gait disturbance... ORPHA:90321
Mental Retardation, Autosomal Dominant 43
Seizure, Hyperactivity OMIM:616977
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Tongue thrusting, Focal hyperkinetic seizure, Generalized-onset seizure, Gen... ORPHA:77299
Phelan-Mcdermid Syndrome
Impaired social interactions, Hypoplastic toenails, Macrotia, Poor eye contact, Long eyelashes, S... OMIM:606232
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Seizure, Low-set ears, Posteriorly rotated ears, Alopecia, Hyperactivity OMIM:601853
Early Infantile Epileptic Encephalopathy
Dystonia, Hypsarrhythmia, Atonic seizure, Hyperactivity, Spasticity, Generalized clonic seizure, ... ORPHA:1934
Pick Disease Of Brain
Stereotypy OMIM:172700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Spasticity, Seizure, Hearing impairment, Hyperactivity, Broad-based gait OMIM:300958
Coffin-Siris Syndrome 6
Tics, Low-set, posteriorly rotated ears, Conductive hearing impairment, Stereotypy, Attention def... OMIM:617808
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Red hair, Blue irides, Fair hair OMIM:614613
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Delayed social development, Dystonia, Impaired social interactions, Spastic at... ORPHA:300570
Congenital Disorder Of Glycosylation, Type Iia
Sparse hair, Macrotia, Hypertonia, Hirsutism, Long eyelashes, Seizure, Posteriorly rotated ears, ... OMIM:212066
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, High anterior hairline, Seizure, Stereotypy, Hyperactivity OMIM:615873
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Morphological abn... ORPHA:87
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Biotinidase Deficiency
Lethargy, Spastic paraparesis, Bilateral tonic-clonic seizure, Ataxia, Seizure, Hearing impairmen... ORPHA:79241
Distal Xq28 Microduplication Syndrome
Absent antihelix, Stereotypical body rocking, Poor eye contact, Cafe-au-lait spot, Microtia, Apla... ORPHA:293939
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Poor eye contact, Seizure, Opisthotonus, Low-set ears, Myoclonus,... OMIM:103050
Intellectual Developmental Disorder, X-Linked 30
Seizure, Macrotia, Hyperactivity OMIM:300558
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Tremor, Giant melanosomes in melanocytes, Silver... OMIM:214500
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Generalized hirsutism, Congenital giant melanocytic nevus, Hypo... ORPHA:626
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Seizure, Recurrent otitis media, Hyperactivity, Spasticity OMIM:615286
Cockayne Syndrome A
Abnormality of skin pigmentation, Tremor, Sparse hair, Dry hair, Pigmentary retinopathy, Irregula... OMIM:216400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Seizure, Stereotypy, Paraplegia ORPHA:927
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Tetraparesis, Stereotypy ORPHA:85277
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Limb hypertonia, Torticollis, Exaggerated startle response,... OMIM:608643
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Seizu... OMIM:610217
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Seizure, Hyperactivity, Athetosis ORPHA:52503
Alazami Syndrome
Sparse eyebrow, Seizure, Low-set ears, Stereotypy, Stereotypical hand wringing ORPHA:319671
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Spastic tetraparesis, Abnormal pyramidal sign, Abnormal autonomic ner... ORPHA:35069
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Pain insensitivity, Seizure, Sensorineural hearing impairment, Hyperactivity OMIM:600430
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Synophrys, Hyperactivity OMIM:615824
Optic Atrophy-Intellectual Disability Syndrome
Seizure, Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Re... ORPHA:401777
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Abnormality of extrapyramidal motor function, Ab... ORPHA:2719
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Recurrent otitis media, Seizure, Sensorineural hearing impairment, Stereot... ORPHA:500159
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Conductive hearing impairment, Sparse scalp hair, Seizure, Sparse and thin... ORPHA:1001
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Clumsiness, Hypoplastic helices, Poor motor coordination, ... ORPHA:2203
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Abnormality of the outer ear, Generalized non-motor (abse... ORPHA:435638
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Tremor, Dystonia, Rigidity, Pigmentary retinopathy, Abnormality of extrapyramidal... OMIM:234200
Lafora Disease
Inability to walk, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizu... ORPHA:501
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Incoordination, Dystonia, ... ORPHA:480864
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long eyelashes, Seizure, Posteriorly rotated ears, Low-set ears, Hyperactivity, Microtia OMIM:618089
22Q11.2 Duplication Syndrome
Seizure, Hearing impairment, Stereotypy, Anterior creases of earlobe, Attention deficit hyperacti... ORPHA:1727
Porokeratosis
Abnormality of skin pigmentation ORPHA:79358
X-Linked Intellectual Disability, Cabezas Type
Tremor, Synophrys, Seizure, Hypogonadism, EEG abnormality, Hyperactivity, Abnormal hair pattern, ... ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Abnormality of the pinna, Seizure, Hyperactivity, Hypogonadism OMIM:300354
Smith-Magenis Syndrome
Conductive hearing impairment, Gait disturbance, Chronic otitis media, Synophrys, Seizure, EEG ab... ORPHA:819
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:760
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Highly arched eyebrow, Stereotypy OMIM:618825
Bainbridge-Ropers Syndrome
Inability to walk, Highly arched eyebrow, Hypertonia, Synophrys, Seizure, Recurrent hand flapping ORPHA:352577
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Sparse scalp... ORPHA:3322
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Macrotia, Low-set, posteriorly rotated ears, Seizure, Optic ner... OMIM:618156
Distal Monosomy 10Q
Cochlear malformation, Abnormality of the outer ear, Morphological abnormality of the vestibule o... ORPHA:96148
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, EEG with burst suppression, Seizure, Tonic seizure, Hyperactivity, Infantile spasms OMIM:619239
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hearing impairment, Hyperactivity, Tetraplegia, Optic atrophy ORPHA:369939
Macrocephaly-Developmental Delay Syndrome
Seizure, Abnormal speech discrimination, EEG with generalized slow activity, Stereotypy ORPHA:397612
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Stereotypy ORPHA:79155
Hermansky-Pudlak Syndrome 10
Dystonia, Albinism, Macrotia, Ocular albinism, Bilateral tonic-clonic seizure, Low-set ears, Foca... OMIM:617050
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Focal-onset seizure, Curly hair, Gait disturbance, Seizure, Cafe-au-lait spot, Hypopigmented skin... ORPHA:457485
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Highly arched eyebrow, Low anterior hairline, Macrotia, Hypertonia, Bilatera... OMIM:615802
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Abnormal motor evoked ... ORPHA:909
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Sparse hair, Hearing impairment, Protruding ear, Fine hair, Abn... ORPHA:1806
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Seizure, Absent brainstem auditory responses, Spastic tetr... ORPHA:3240
Ck Syndrome
Seizure, Posteriorly rotated ears, Hyperactivity ORPHA:251383
White-Sutton Syndrome
Vitiligo, Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Abnormal... ORPHA:468678
Brittle Cornea Syndrome 1
Hearing impairment, Red hair OMIM:229200
Megalocornea-Intellectual Disability Syndrome
Ataxia, Seizure, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Stereotypy ORPHA:2479
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Mend Syndrome
Seizure, Hypertonia, Low-set ears, Hyperactivity OMIM:300960
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Seizure, Low-set ears, Sparse lateral eyebrow, Stereotypy, Attention deficit hyperactivity disorder OMIM:619103
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Speech apraxia, Macrotia, Abnormality of the pinna, Hypoplastic nipples, Seizure, Cafe-au-lait sp... OMIM:618505
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Seizure, Stereotypy, Cataplexy, Spasticity OMIM:607625
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Cockayne Syndrome B
Abnormality of skin pigmentation, Tremor, Sparse hair, Dry hair, Pigmentary retinopathy, Abnormal... OMIM:133540
Chronic Bilirubin Encephalopathy
Hypertonia, Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cereb... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Cereb... ORPHA:529799
Mend Syndrome
Spotty hypopigmentation, Abnormal social behavior, Seizure, Low-set ears, Limb hypertonia, Abnorm... ORPHA:401973
Ck Syndrome
Seizure, Posteriorly rotated ears, Hyperactivity OMIM:300831
47,Xyy Syndrome
Impaired social interactions, Azoospermia, Oligospermia, Seizure, Low-set ears, Hyperactivity, Ma... ORPHA:8
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Nail dysplasia, Seizure, Unsteady gait, Stereotypy OMIM:616682
Clark-Baraitser Syndrome
Seizure, Hyperactivity OMIM:617752
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Tics, Chronic otitis media, Abnormality of the pinna, Low-set ears, Hear... ORPHA:261211
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, EEG with multifocal slow activity, Seizure, Hyperactivity, Large earlobe OMIM:616809
Transketolase Deficiency
Hearing impairment, Attention deficit hyperactivity disorder, Secondary amenorrhea, Stereotypy ORPHA:488618
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Generalized non-motor (absence) seizure, Lower limb spasticity, Optic nerve hypoplasia, Hyp... ORPHA:363686
Waardenburg Syndrome, Type 1
Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, Thick eyebrow, White e... OMIM:193500
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Tongue fasciculations, Protruding ear, Hyperactivity ORPHA:166108