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,  TRPML3,  6720490O21Rik

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
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... ORPHA:42665
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Familial Isolated Café-Au-Lait Macules
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... OMIM:608636
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
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Congenital, With Total Albinism
Hearing impairment, Albinism OMIM:220900
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Hearing impairment, Abnormality of skin pigmentation OMIM:300719
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... OMIM:619947
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity, Seizure, Low-set ears, Cafe-au-lait spot, EEG abnormality ORPHA:436151
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, Impaired abili... OMIM:607373
Autism
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, Impaired abili... OMIM:209850
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... ORPHA:998
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:617787
Ermine Phenotype
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... OMIM:227010
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Seizure, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Seizure, Restrictive behavior, Motor stereotypy OMIM:300425
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Seizure, Aggressive behavior, Fair hair, Gait ataxia OMIM:618808
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Hypertrichosis Lanuginosa Congenita
Hearing impairment, Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock, Severe sensorine... OMIM:601706
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Albinism-Deafness Syndrome
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... OMIM:300700
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613265
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Focal-onset seizure, Falls, Chorea, Seizure, Inappropriate laughter, Ataxia, Motor stereotypy, Fo... OMIM:619150
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Chorea, Seizure, Athetosis, Bilateral tonic-clonic ... ORPHA:382
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Sensorineural he... ORPHA:895
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619970
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Infantile spasms, Impulsivity, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:617113
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... OMIM:103500
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Gait ataxia, Dysphagia, Status epilepticus OMIM:620448
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ... ORPHA:2885
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... OMIM:193510
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hyperactivity, Hypsarrhythmia,... ORPHA:599373
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Abnormality of the ear, Absent... OMIM:172800
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Seizure, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:617171
Hyperprolinemia, Type I
Hyperactivity, Seizure, Ataxia, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:239500
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism, Adult onset sensorineural hearing impairment OMIM:300650
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hyperactivity, Seizure, Hypopigmentation of the skin,... ORPHA:411515
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Seizure, Ataxia, Motor stereotypy OMIM:618709
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Cdkl5-Deficiency Disorder
Focal-onset seizure, Difficulty walking, Generalized tonic seizure, Impaired pain sensation, Infa... ORPHA:505652
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Hypsarrhythmia, Seizure, Motor stereotypy, Status epilepticus OMIM:617830
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Small nail, Hyperactivity, Broad-based gait, Seizure, Motor stereotypy, Aggressive... OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia... OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Inability to walk, Hyperactivity, Delayed early-childhood social m... OMIM:618090
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Bilateral tonic-clonic seizure, Aggr... OMIM:619639
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Seizure, Reduced social reciprocity, Motor stereotypy, Self-injurious behavior... OMIM:617820
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Generalized tonic seizure, Falls, Hyperactivi... ORPHA:2382
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, EEG with spike-wave compl... ORPHA:139431
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Inability to walk, Chorea, Compulsive behaviors, Stereotypical hand wringing... OMIM:618917
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Seizure, Ataxia, Frontal upsweep of hair... OMIM:300983
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Developmental And Epileptic Encephalopathy 107
Seizure, Clonic seizure, Tonic seizure, Motor stereotypy OMIM:620033
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Seizure, Generalized-onset seizure, Inability to walk OMIM:616657
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Schizophrenia 15
Hyperactivity OMIM:613950
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:277580
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Attention deficit hyperact... OMIM:619191
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Motor stereotypy OMIM:616341
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Difficulty walking, Inability to walk, Bilateral tonic-clonic seizure, Tonic sei... OMIM:616346
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Premature graying of hair, Hyperactivity, Chorea, Seizure, Low-set ears, Waddling gait, Impulsivi... OMIM:620445
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure, Ataxia OMIM:613402
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Abnormal... ORPHA:3437
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Inability to walk, Chorea, Stereotypical hand wringing, Convulsive status ep... OMIM:618760
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Hypopigmentation of hair, Bilateral tonic-clonic seizure with g... ORPHA:98795
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Seizure, Restrictive behavior, Motor stereotypy OMIM:300495
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
High anterior hairline, Delayed early-childhood social milestone development, Low-set ears, Recur... OMIM:618147
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Inability to walk, Seizure, Myoclonus, Stereotypical hand wringing, Bilateral to... OMIM:618497
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Hypopigmentation of hair, Tongue thrusting, Broad-based gait, Seizure, Hypopigmen... ORPHA:411511
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Generalized tonic seizure, Hypsarrhyt... ORPHA:411986
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bilateral tonic-cl... OMIM:616056
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potential... ORPHA:320401
Hartnup Disorder
Hyperactivity, Seizure, Episodic ataxia, Attention deficit hyperactivity disorder, Generalized to... OMIM:234500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure, Hirsutism ORPHA:85288
Foxg1 Syndrome
Focal-onset seizure, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Stereoty... ORPHA:561854
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Myoclonic seizure, Low anterior hairline, Motor stereotypy, Thin eyebrow, Self-inj... OMIM:619690
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Bruxism, Seizure, Hirsutism OMIM:300434
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Seizure, Low-set ears, Motor stereotypy, Self-injurious behavio... OMIM:618718
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, EEG with centrotemporal focal spike waves, Interict... ORPHA:725
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Hypopigmentation of hair, Seizure, Hypopigmentation of ... ORPHA:33445
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Gait ataxia, Tonic seizur... OMIM:620145
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Seizure, Gener... OMIM:619827
Shukla-Vernon Syndrome
Broad-based gait, Seizure, Impulsivity, Motor stereotypy, Sparse hair, Attention deficit hyperact... OMIM:301029
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Frontal bal... ORPHA:1942
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, Impaired abili... OMIM:608049
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Enl... ORPHA:79414
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Curly hair, Hearing impairment, Moto... OMIM:616351
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Focal-onset seizure, Nocturnal seizures, Difficulty walking, Seizure, Infantile spasms, Tonic sei... OMIM:617393
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Myoclonic seizure, Atonic seizure, Ataxia, Myoclonus, Aggress... ORPHA:168491
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Bilateral tonic-clonic seizure, Gait disturbance, C... ORPHA:275864
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Coffin-Siris Syndrome 8
Hyperactivity, Seizure, Sparse scalp hair, Long eyelashes, Thick eyebrow, Self-injurious behavior... OMIM:618362
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Gait disturbance, Disinhibition, Motor stereotypy, Restlessnes... OMIM:600795
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Stereotypical hand wringing, Macrotia, Reduced social reciprocity, Self-injurious behavior ORPHA:397933
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Hearing impairment, Ataxia, Aggressive behavior OMIM:620270
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Interictal epileptiform activity, Focal aware seizure, G... ORPHA:101046
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Seizure, Clonic seizure, Motor stereotypy OMIM:615282
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Seizure, Polyphagia, Synophrys, Generalized hirsutism, Atax... ORPHA:228402
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:620065
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Spastic gait, Impaired proprioception, Difficulty walking, Jerky head movements, Imp... ORPHA:251282
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of hair, Tongue thrusting, Hyperactivity, Broad-based gait, Seiz... ORPHA:98794
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic ... OMIM:605021
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Seizure, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Seizure, Spastic ataxia, Motor stereotypy OMIM:618906
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Broad-based gait, Seizure, Bilatera... OMIM:619157
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Synophrys, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Hearing impairmen... ORPHA:897
Ravine Syndrome
Anorexia, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Inability to walk, Chorea, Seizure, Stereotypical hand wringing, Myoclonic seizu... OMIM:614254
Intellectual Developmental Disorder, Autosomal Recessive 61
Thick hair, Highly arched eyebrow, Hyperactivity, Hypsarrhythmia, Infantile spasms, Low-set ears,... OMIM:617773
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal-onset seizure, Hyperactivity, Focal motor seizure, EEG with f... ORPHA:1929
Phenylketonuria
Hyperactivity, Generalized hypopigmentation, Seizure, Compulsive behaviors, Attention deficit hyp... OMIM:261600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Seizure, Hearing impairment, Abnormality of skin pigmentation, A... ORPHA:457260
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with generalized ... OMIM:619092
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Atypical Rett Syndrome
Agitation, Generalized myoclonic seizure, Restrictive behavior, Neonatal seizure, Tongue thrustin... ORPHA:3095
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Seizure, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Seizure, Abnormal pinna morphology, Stereotypical hand wringing, Gait disturbance,... OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media, Bilateral tonic-clonic s... OMIM:301076
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, EEG with spike-wave complexes, ... OMIM:607682
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Spastic gait, Focal-onset seizure, EEG with polyspike wa... OMIM:620540
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Macrotia, Febrile seizure (within the age... OMIM:620292
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ... ORPHA:999
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Seizure, Macrotia, Ataxia, ... OMIM:617695
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Inability to walk, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ... OMIM:619580
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Chorea, Recurrent hand flapping, Bilatera... OMIM:617600
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Alopecia totalis ORPHA:700
Deafness, Congenital, With Vitiligo And Achalasia
Hearing impairment, Vitiligo OMIM:221350
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Seizure, Facial palsy, Absent brainstem auditory responses, Dys... OMIM:617519
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Intermediate Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A... ORPHA:79402
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Obesity And Hypopigmentation
Red hair OMIM:620195
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Hemifacial Atrophy, Progressive
Microtia, Seizure, Patchy alopecia, Poliosis, Ataxia, Horner syndrome OMIM:141300
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation, Hypogo... ORPHA:177910
Episodic Ataxia, Type 5
Typical absence seizure, EEG with spike-wave complexes, Truncal ataxia, Vertigo, Episodic ataxia,... OMIM:613855
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Myoclonic absence seizure, Generalized... ORPHA:544254
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, EEG with polyspike wa... OMIM:619913
Glycine Encephalopathy 1
Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, High anterior hairline, Inappropriate laughter, Recurrent hand flapping OMIM:618859
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Sparse scalp hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy OMIM:613886
Christianson Syndrome
Truncal ataxia, Generalized-onset seizure, Gait ataxia, Macrotia, Inappropriate laughter, Thick e... ORPHA:85278
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Seizure, Ataxia, Myoclonus OMIM:615924
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Alazami-Yuan Syndrome
Highly arched eyebrow, Hyperactivity, Hirsutism, Synophrys, Long eyelashes, Low anterior hairline... OMIM:617126
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Progressive cerebellar ataxia, Hyperactivity, Chorea, EE... ORPHA:485350
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Chorea, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Motor stereotypy, ... OMIM:619725
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Or... ORPHA:208447
Xq25 Microduplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Seizure, Hyperactivity ORPHA:521258
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter, Sparse hair OMIM:615074
Childhood Absence Epilepsy
Jerky head movements, Typical absence seizure, Abnormal social behavior, Myoclonic absence seizur... ORPHA:64280
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Seizure OMIM:300928
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Impaired pain sensation, Head... OMIM:182290
Developmental And Epileptic Encephalopathy 64
Inability to walk, Highly arched eyebrow, Chorea, Seizure, Long eyelashes, Macrotia, Sparse eyebr... OMIM:618004
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Hypopigmentation of hair, Chorea, Seizure, Ataxia, Dysphagia, EEG with abnorma... ORPHA:70472
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of skin pigmentation, Nail dystrophy, Abnormality of the subungual region, Anonychia ORPHA:79411
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ... OMIM:104100
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic seizure, Hearing impai... OMIM:619877
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Baker-Gordon Syndrome
Inability to walk, Ataxia, Motor stereotypy, Self-injurious behavior, EEG abnormality, Choreoathe... OMIM:618218
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Juvenile Huntington Disease
Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Chorea, Seizure, Gait ataxia, Ata... ORPHA:248111
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Nail dystrophy, Optic nerve hypoplasia, Seizure, Motor stereotypy, Attention deficit hyperactivit... OMIM:620502
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Angelman Syndrome
Hyperactivity, Hypopigmentation of the skin, Atypical absence seizure, Atonic seizure, Ataxia, Dy... ORPHA:72
New-Onset Refractory Status Epilepticus
Status epilepticus without prominent motor symptoms, EEG with spike-wave complexes, Seizure preci... ORPHA:363558
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Spinocerebellar atrophy, Impair... ORPHA:95433
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impaired pain sensation, Chorea, Hyperactivity, Seizure, Impulsivity, Gait ata... ORPHA:500180
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Hyperactivity, Sensorineural hearing impairment, Seizure, Stereotypical ha... OMIM:600430
Idiopathic Trachyonychia
Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ... ORPHA:79153
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Highly arched eyebrow, Seizure, Motor stereotypy, Pain insensitivity,... OMIM:618825
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Fragile X Syndrome
Hyperactivity, Seizure, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Seizure, Waddling gait, Excessive shyness, Motor stereotypy ORPHA:280763
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, E... OMIM:604317
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Hyperactivity, Seizure, Sparse eyebrow, Thick eyebrow OMIM:300979
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment, Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Lopes-Maciel-Rodan Syndrome
Agitation, Seizure, Unsteady gait, Dysphagia, Motor stereotypy, Focal impaired awareness seizure,... OMIM:617435
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Interictal epileptiform activity, Seizure, Bilateral cond... OMIM:617802
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair, Polyphagia, Hypoglycemic seizures ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair, Polyphagia, Hypoglycemic seizures ORPHA:71526
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Hyperactivity, Seizure, Low-set ears, Compulsive behaviors, Repetitive com... ORPHA:352490
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Seizure, Ataxia, Motor stereotypy ORPHA:530983
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Broad eyebrow, Inability ... ORPHA:457351
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Abnormality of skin pig... ORPHA:218
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Xq28 (MECP2) duplication
Inability to walk, Seizure, Gait ataxia, Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment, Seizure, Bilateral tonic-clonic seizure OMIM:609924
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Recurrent hand flapping, Impulsivity, Gait ataxia, Posteriorly rotated ears OMIM:619717
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Seizure, Hirsutism, Synophrys, Hearing impairment, Coarse hair, Aggressive behavior OMIM:252920
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Motor tics, Attention deficit hyperactivity disorder OMIM:619927
Classic Phenylketonuria
Hypopigmentation of hair, Seizure, Hypopigmentation of the skin, Attention deficit hyperactivity ... ORPHA:79254
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Sensorineura... ORPHA:3214
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair OMIM:225050
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Synophrys, Reduced social reciprocity, Supernumerary nipple, Over... OMIM:616083
4Q21 Microdeletion Syndrome
Seizure, Low-set ears, Synophrys, Long eyelashes, Hearing impairment, Generalized hirsutism, Moto... ORPHA:238750
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Protruding ear, Highly arched eyebrow, Hyperactivity, Sensorineural hearing impairment, Low-set e... OMIM:618342
Radio-Tartaglia Syndrome
Small nail, Highly arched eyebrow, Impulsivity, Ataxia, Dysphagia, Aggressive behavior, Seizure, ... OMIM:619312
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Recurrent hand flapping, Synophrys, Bruxism OMIM:613192
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch... OMIM:613266
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Seizure, Synophrys, Motor stereotypy, Hypogonad... ORPHA:3306
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair ORPHA:1810
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Infantile ... OMIM:300912
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Sensorineural hearing impairment, Heteroch... OMIM:148820
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Seizure, Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Curly hair, Ataxia, Mot... OMIM:300986
Huntington Disease-Like 1
Jerky head movements, Chorea, Seizure, Gait disturbance, Gait ataxia, Restlessness, Abnormal head... ORPHA:157941
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Decreased nerve conduction velocity, Steppage gait, Inabili... ORPHA:101085
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Chorea, Athetosis, Impulsivity, Curly hair, Bilateral tonic-clonic seizure, ... OMIM:619435
Angelman Syndrome
Broad-based gait, Hyperactivity, Seizure, Hypopigmentation of the skin, Paroxysmal bursts of laug... OMIM:105830
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, Abnormality of visua... OMIM:617523
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Seizure, Impulsivity, Synophrys, Uplifted earlobe OMIM:300143
Primary Dystonia, Dyt13 Type
Jerky head movements, Motor stereotypy ORPHA:98807
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Seizure, Thick eyebrow, Motor stereotypy ORPHA:228384
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Episodic Ataxia Type 4
Vertigo, Ataxia, Abnormal head movements ORPHA:79136
Cri-Du-Chat Syndrome
Premature graying of hair, Optic atrophy, Difficulty walking, Hyperactivity, Stenosis of the exte... OMIM:123450
Childhood Disintegrative Disorder
Seizure, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Juvenile Neuronal Ceroid Lipofuscinosis
Seizure, Pigmentary retinopathy, Interictal EEG abnormality, Myoclonic spasms, Bilateral tonic-cl... ORPHA:79264
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Muenke Syndrome
Hypopigmented skin patches, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmenta... ORPHA:53271
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Febrile seizure outside the age of 3 months to 6 years, Recurrent hand fl... OMIM:617788
Intellectual Developmental Disorder, Autosomal Recessive 79
Oligomenorrhea, Broad-based gait, Tongue thrusting, Gait ataxia OMIM:620393
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hyperactivity, Synophrys, Macrotia, Motor stereotypy, Aggressive... ORPHA:391307
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Seizure, Recurrent hand flapping... ORPHA:449291
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Seizure, Hirsutism, Synophrys, Hearing impairment, Coarse hair OMIM:252900
Autosomal Recessive Spastic Paraplegia Type 23
Multiple lentigines, Vitiligo, Silver-gray hair ORPHA:101003
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Seizure, Multiple cafe-au-lait spots, Gait d... ORPHA:100
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, EEG with focal spikes, Interictal e... ORPHA:163681
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Hypoplastic fifth toenail, Low-set ears, Compulsive behavi... OMIM:618027
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Multifocal epileptiform discharges, Agitation, Hyperactivity, Low-set ears, Horizontal eyebrow, H... ORPHA:369891
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Seizure, Hirsutism, Synophrys, Hearing impairment, Hypertrichosis, Dysphagia, Coar... OMIM:252930
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling OMIM:160980
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure, EEG with polyspike wave complexes OMIM:617169
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Seizure, Hirsutism, Compulsive behaviors, Synophrys, Attention deficit hyperactivity disorder, Ma... OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity, S... OMIM:617751
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Decreased nerve conduction velocity, Distal sensory impairment, Agang... OMIM:609136
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Seizure, Abnormality of superior crus of antihelix, Prominent crus of helix, Macro... OMIM:301013
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Seizure, Gait ataxia, Generalized hirsutism, Ataxia, Myoclonus, Status epilepticus ORPHA:363400
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Coffin-Siris Syndrome 2
Small nail, Hyperactivity, Abnormal pinna morphology, Hirsutism, Seizure, Sparse scalp hair, Long... OMIM:614607
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... OMIM:300558
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Hypoplasia of the semicircular canal, Sens... OMIM:611584
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Thick eyebrow, Motor stereotypy ORPHA:529965
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired proprioception, Distal sensory impairment, Orthostatic hypotension, Erecti... ORPHA:99027
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Scissor gait, Highly arched eyebrow, Truncal ataxia, Facial diplegia, Motor stereot... OMIM:619121
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Seizure OMIM:617182
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Bro... ORPHA:3077
Alazami Syndrome
Seizure, Low-set ears, Stereotypical hand wringing, Sparse eyebrow, Motor stereotypy, Abnormal ea... ORPHA:319671
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Tonic seizure, Synophrys, Curly ha... OMIM:620075
Blepharophimosis-Impaired Intellectual Development Syndrome
Aplastic/hypoplastic toenail, Highly arched eyebrow, Seizure, Low-set ears, Sparse scalp hair, Lo... OMIM:619293
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Pilarowski-Bjornsson Syndrome
Seizure, Broad eyebrow, Motor stereotypy, Long eyelashes OMIM:617682
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure, Gait disturbance, Macrotia, Motor stereotypy, Self-mutil... ORPHA:457240
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Attached earlobe, Microtia, Hirsutism, Seizure, Impulsivity, Synophrys, Ataxia, Ag... OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Chorea, Seizure, Low-set ears, Tonic ... OMIM:300260
Spinocerebellar Ataxia, Autosomal Recessive 31
Bilateral sensorineural hearing impairment, Ataxia, Dysphagia, Choreoathetosis, Bruxism, Self-mut... OMIM:619422
Den Hoed-De Boer-Voisin Syndrome
Focal-onset seizure, Ataxia, Dysphagia, Myoclonus, EEG abnormality, Widow's peak, Generalized non... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Seizure, Low-set ears, Inability to walk, Motor stereotypy OMIM:613443
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tongue thrusting, Broad-based gait, Highly arched eyebrow, Hyperactivity, Stereotypical body rock... OMIM:617865
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Torticollis, Low-set ears, Hypoplasia of the se... ORPHA:251061
Hijazi-Reis Syndrome
Seizure, Gait disturbance, Motor stereotypy OMIM:301094
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Seizure, Motor stereotypy OMIM:618504
Chromosome 5P13 Duplication Syndrome
Seizure, Low-set ears, Compulsive behaviors, Low posterior hairline, Posteriorly rotated ears, Mo... OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Seizure, Low-set ear... OMIM:617796
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Coffin-Siris Syndrome 6
Seizure, Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy,... OMIM:617808
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Hyperactivity, Fair hair OMIM:614613
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Seizure, Low-set ears, Compulsive behaviors, Ataxia, Posteriorly rotated ears, Mot... OMIM:618430
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Difficulty walking, Broad-based gait, Generalized-onset seizure, Gait ataxia, Motor stereotypy, P... OMIM:617807
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Huntington Disease-Like 3
Broad-based gait, Chorea, Seizure, Progressive gait ataxia, Abnormal head movements ORPHA:157946
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Synophrys, Ataxia, Optic d... OMIM:619260
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Bil... ORPHA:73272
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Seizure, Hearing impairment, Motor stereotypy, EEG abno... OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Seizure, Hearing impairment, Aggressive behavior OMIM:300958
Apert Syndrome
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Conductive hearing impairment, Ab... ORPHA:87
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F... OMIM:203300
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Highly arched eyebrow, Seizure, Low posterior hairline, ... OMIM:615802
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Seizure, Low-set ears, Ataxia, Posteriorly rotated ears, Self-injurious behavior, ... OMIM:601853
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors, Low-set ... OMIM:620021
48,Xxyy Syndrome
Chronic otitis media, Azoospermia, Seizure, Infertility, Hypergonadotropic hypogonadism, Ataxia, ... ORPHA:10
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Seizure, Hirsutism, Low-set ears, Stereotypical hand wringing, ... OMIM:212066
X-Linked Adrenoleukodystrophy
Hyperactivity, Progressive hearing impairment, Impotence, Gait disturbance, Disinhibition, Attent... ORPHA:43
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Low-set ears, Myoclonic seizure, Unsteady gait, Motor stereot... OMIM:618205
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Highly arched eyebrow, Sensorineural hearing... ORPHA:500159
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Jerky head movements, Somatic sensory dysfunction, Dysphagia ORPHA:240103
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Phelan-Mcdermid Syndrome
Toenail dysplasia, Tongue thrusting, Broad-based gait, Impaired pain sensation, Seizure, Long eye... OMIM:606232
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Recurrent otitis media, Highly arched eyebrow, Hyperactivity, Seiz... OMIM:301069
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Low-set ears, Gait ataxia, Overfriendliness, Motor stereotypy, Supernume... OMIM:616579
Large Congenital Melanocytic Nevus
Hypopigmented skin patches, Abnormality of skin pigmentation, Generalized hirsutism, Congenital g... ORPHA:626
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Motor stereotypy ORPHA:85277
Rett Syndrome, Congenital Variant
Tongue thrusting, Chorea, Seizure, Athetosis, Reduced social reciprocity, Motor stereotypy, Protr... OMIM:613454
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Impaired tactil... ORPHA:206448
White-Sutton Syndrome
Hypoglycemic seizures, Hyperactivity, Optic nerve hypoplasia, Sensorineural hearing impairment, A... OMIM:616364
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Hypermelanotic macule, Nail dystrophy, Alopecia of scalp, Alopecia, Freckling, Hypomelanotic macule OMIM:618373
Galloway-Mowat Syndrome 6
Seizure, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Adenylosuccinase Deficiency
Inability to walk, Hyperactivity, Seizure, Low-set ears, Gait ataxia, Inappropriate laughter, Myo... OMIM:103050
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Seizure, Infantile spasms, Gene... OMIM:300672
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavior, Agg... ORPHA:313892
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, Hyperactivity, Optic nerve h... ORPHA:363686
Macrocephaly-Developmental Delay Syndrome
Seizure, Motor stereotypy, Abnormal speech discrimination, Self-injurious behavior, EEG with gene... ORPHA:397612
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Sensorineural hearing impairment, Seizure, Synophrys, Status epilepticus, Aggressi... OMIM:615824
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Hypoplastic fingernail, Myoclonic status epilepticu... OMIM:619777
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Focal-onset seizure, Hyperactivity, Seizure, Generalized-onset seizur... ORPHA:457485
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Seizure, Conductive hearing impairment, Reduced social reciproc... ORPHA:261197
Hyperlysinemia, Type I
Hyperactivity, Dysdiadochokinesis, Febrile seizure (within the age range of 3 months to 6 years),... OMIM:238700
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea... ORPHA:247815
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Infantile spasms, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, ... OMIM:616393
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Medial flaring of the eyebrow, Small nail, Microtia, Seizure, Compulsive behaviors, Synophrys, Ca... OMIM:620494
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Seizure, Abnormal autonomic nervous system phys... ORPHA:778
Smith-Magenis Syndrome
Chronic otitis media, Impaired pain sensation, Seizure, Gait disturbance, Synophrys, Conductive h... ORPHA:819
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, Infantile spasms, Seizure, Tonic seizure, EEG with burst suppression OMIM:619239
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Seizure, Loss of ambulation, Decrease... OMIM:610532
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Red hair, Polyphagia OMIM:609734
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Seizure, Hirsutism, Absent brainstem auditory re... ORPHA:79330
Microtriplication 11Q24.1
Attached earlobe, Synophrys, Hearing impairment, Long eyelashes, Thick eyebrow, Posteriorly rotat... ORPHA:289522
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Infantile spasms, Low-set ears, Bilateral tonic-clon... ORPHA:447997
Infantile Krabbe Disease
Hypopigmented skin patches, Optic atrophy, Delayed brainstem auditory evoked response conduction ... ORPHA:206436
47,Xyy Syndrome
Male infertility, Azoospermia, Hyperactivity, Seizure, Oligozoospermia, Low-set ears, Impulsivity... ORPHA:8
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, EEG wit... ORPHA:1934
Hermansky-Pudlak Syndrome 11
Iris transillumination defect, Melanocytic nevus, Albinism, Fair hair, Ocular albinism OMIM:619172
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Chromosome 15Q11.2 Deletion Syndrome
Seizure, Compulsive behaviors, Macrotia, Ataxia, Reduced social reciprocity, Motor stereotypy, At... OMIM:615656
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Seizure, Sparse scalp hair, Compulsive behaviors, Conductive hearing impai... ORPHA:1001
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of... ORPHA:163746
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Seizure, Abnormal autonomic nervous system physiology, Impulsivity,... ORPHA:35069
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Hirsutism, Bilateral tonic-clonic seizure, Macrotia, Sparse eyebrow, Febrile seizu... ORPHA:496641
22Q11.2 Duplication Syndrome
Seizure, Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactiv... ORPHA:1727
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Seizure, Gait ataxia, Macrotia, Motor stereotypy, Self-mutilation OMIM:300486
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Long eyelashes, Tonic seizure, Macr... OMIM:617281
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Difficulty walking, Seizure, Absent brainstem auditory resp... ORPHA:90321
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Broad-based gait, Seizure, Gait disturbance, Reduced social recipro... OMIM:300352
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Broad-based gait, Truncal ataxia, Low-set ears, Recurrent hand flapping, Self-injuri... OMIM:617101
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Agitation, Ataxia, Motor stereotypy ORPHA:927
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Sensorineural hearing imp... ORPHA:435638
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive be... OMIM:620242
Glass Syndrome
Nail dysplasia, Broad-based gait, Hyperactivity, Seizure, Low-set ears, Frequent temper tantrums,... OMIM:612313
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Seizure, Recurrent hand flapping, Gait disturbance, Bruxism OMIM:617903
Brittle Cornea Syndrome 1
Hearing impairment, Red hair OMIM:229200
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Squalene Synthase Deficiency
Optic nerve hypoplasia, Seizure, Low-set ears, Abnormality of hair pigmentation, Macrotia, Poster... OMIM:618156
Ogden Syndrome
Shuffling gait, Low-set ears, Macrotia, Aplasia/Hypoplasia of the eyebrow, Abnormal head movement... ORPHA:276432
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Absent antihelix, Microtia, Impulsivity, Cafe-au-lait spot, Stereotypical body rock... ORPHA:293939
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Hyperactivity, Seizure, Gait disturbance, Hearing impairme... ORPHA:139396
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Low-set ears, Frequent temper tantrums, Sparse lateral eyebrow, Motor ster... OMIM:619103
Distal Deletion 10Q
Spina bifida occulta, Facial diplegia, Abnormality of the outer ear, Low-set ears, Cochlear malfo... ORPHA:96148
X-Linked Creatine Transporter Deficiency
Hyperactivity, Chorea, Seizure, Athetosis, Ataxia, Self-mutilation ORPHA:52503
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Broad-based gait, Hyperactivity, Seizure, Synophrys, Abnormal hair p... ORPHA:85293
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, Chorea, EEG with focal sharp waves, Horizontal eyebrow, Abnormal l... ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Hirsutism, Febrile seizure (within the age range of 3 months to 6 years), Motor stereoty... OMIM:620073
Kleefstra Syndrome 1
Abnormal pinna morphology, Seizure, Compulsive behaviors, Synophrys, Hearing impairment, Motor st... OMIM:610253
Developmental And Epileptic Encephalopathy 110
Chorea, Low-set ears, Macrotia, Pain insensitivity, Bruxism OMIM:620149
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Seizure, Compulsive behaviors, Fe... ORPHA:468678
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Seizure, Shuffling gait, Patchy alopecia, Tonic seizure, Macrotia, Thick eyebrow, ... OMIM:300534
Mucopolysaccharidosis, Type Iiid
Agitation, Recurrent otitis media, Difficulty walking, Facial hirsutism, Hyperactivity, Seizure, ... OMIM:252940
Mend Syndrome
Abnormal social behavior, Hyperactivity, Seizure, Abnormal auditory evoked potentials, Low-set ea... ORPHA:401973
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Male hypogonadism, Shuffling gait, Macrotia, Ataxia, Restlessness, Choreoathetosis,... OMIM:300055
Transketolase Deficiency
Secondary amenorrhea, Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention defic... ORPHA:488618
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Seizure, Generalized-onset seizure, Status epilepticus, Self-biting OMIM:618314
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Infantile spasms, Myoclonic seizure, Dysphagia, Motor stereotypy ORPHA:572013
Insensitivity To Pain, Congenital, With Anhidrosis
Nail dysplasia, Nail dystrophy, Hyperactivity, Sparse scalp hair, Abnormal autonomic nervous syst... OMIM:256800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Hypoplastic fifth toenail, Seizure, Low-set ears, Ataxia, Unsteady gait... ORPHA:457279
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Impaired temperature sensation, Seizure, Infe... ORPHA:398079
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Synophrys, White forelock, Thick eyebrow, White ... OMIM:193500
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-banging, ... ORPHA:177907
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Compulsive behaviors, Synophrys, Gait ataxia, Motor stereotypy, Attention deficit hypera... ORPHA:476126
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Irregular menstruation, Sensorineural hearing... OMIM:216400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Focal-onset seizure, Inability to walk, Delayed early-childhood social milestone development, Sen... ORPHA:300570
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Hyperactivity, Abnormal optic disc morphology,... ORPHA:96121
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Low-set ears, Recurrent hand flapping, Unsteady gait, Pica OMIM:618480
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Protruding ear, Broad-based gait, Hyperactivity, Seizure, Low-set ears, Bilateral tonic-clonic se... OMIM:614756
Pitt-Hopkins Syndrome
Self-injurious behavior, Thickened helices, Seizure, Gait ataxia, Motor stereotypy, Hyperconvex n... OMIM:610954
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Hypopigmentation of hair, Silver-gray hair, Seizure, Hypopig... OMIM:214500
Bainbridge-Ropers Syndrome
Inability to walk, Highly arched eyebrow, Seizure, Hirsutism, Recurrent hand flapping, Low-set ea... OMIM:615485
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Seizure, Ataxia, Motor stereotypy, Protruding ear, EEG abnormality ORPHA:2479
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Inability to walk, Chorea, Low-set ears, Stereotypical hand wringing, Synophrys, Cafe-au-lait spo... OMIM:617804
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Ataxia OMIM:245348
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Palatal tremor, Seizure, Abnormal ... ORPHA:909
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Impaired temperat... ORPHA:98793
Rauch-Steindl Syndrome
Highly arched eyebrow, Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy... OMIM:619695
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Impaired temperat... ORPHA:177904
21Q22.11Q22.12 Microdeletion Syndrome
Nail dystrophy, Periorbital hyperpigmentation, Recurrent otitis media, Tongue thrusting, Small na... ORPHA:261323
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1