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Gene: Mcoln3 MGI:1890500

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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:
Va,  TRPML3,  varitint-waddler,  6720490O21Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... 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
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... 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
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Book Syndrome
Premature graying of hair OMIM:112300
Deafness, Congenital, With Total Albinism
Hearing impairment, Albinism OMIM:220900
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Hearing impairment OMIM:300719
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... OMIM:209850
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure, Cafe-au-lait spot, EEG abnormality, Low-set ears, Abnormal social behavior ORPHA:436151
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Albinism-Deafness Syndrome
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... OMIM:300700
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
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Seizure, Fair hair, Aggressive behavior, Gait ataxia OMIM:618808
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Autism, Susceptibility To, X-Linked 3
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:300496
Autism, Susceptibility To, X-Linked 1
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:300425
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Hearing impairment OMIM:172850
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment ORPHA:2222
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... OMIM:601706
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613265
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Seizure... OMIM:619150
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavi... ORPHA:382
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... OMIM:103500
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe... OMIM:617171
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Syn... OMIM:193510
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... ORPHA:2885
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Abnormality of the ear, W... OMIM:172800
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu... OMIM:614063
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism OMIM:300650
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, ... ORPHA:411515
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Inabi... OMIM:618917
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Synophrys, Multifocal epileptifor... ORPHA:505652
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Developmental And Epileptic Encephalopathy 58
Inability to walk, Optic atrophy, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitiv... OMIM:617830
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Seizure, Small nail, Abnorma... OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping... OMIM:617862
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr... OMIM:619639
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Jeavons Syndrome
Abnormal head movements, Bilateral tonic-clonic seizure with generalized onset, Focal seizure wit... ORPHA:139431
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... ORPHA:2382
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Optic atrophy, Seizure, Fr... OMIM:300983
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Seizure, Self-injurious behavior, EEG abnormality, Impaired social interaction... OMIM:617820
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Seizure, Hyperactivity, Generalized-onset seizure OMIM:616657
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Schizophrenia 15
Hyperactivity OMIM:613950
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Hartnup Disorder
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Generalized to... OMIM:234500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... OMIM:617904
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:277580
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Ataxia OMIM:613402
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... OMIM:618090
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convulsive status epilep... OMIM:618760
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Broad-based gait, Bilateral tonic-clonic seizure with generalized onset... ORPHA:98795
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... ORPHA:3437
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Autism, Susceptibility To, X-Linked 2
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior OMIM:300495
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... OMIM:618497
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, S... ORPHA:411511
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Prominent ear helix, Abnormal repetitive mannerisms, Synophrys, Low anterior ha... ORPHA:411986
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity, Hirsutism ORPHA:85288
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... OMIM:619428
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Seizure, Self-injurious be... OMIM:618362
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Brunet-Wagner Neurodevelopmental Syndrome
Low anterior hairline, Optic atrophy, Myoclonic seizure, Self-injurious behavior, Thin eyebrow, A... OMIM:619690
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... ORPHA:1942
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... ORPHA:725
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Hirsutism, Bruxism OMIM:300434
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to walk, Choreoa... ORPHA:561854
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Seizure, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:618718
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Optic atrophy, Premature graying... ORPHA:33445
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Difficulty walking, Abnormal repet... OMIM:617393
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Polyphagia, Generalized ... ORPHA:228402
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Bilateral tonic-clonic seizure, Synophrys, Coarse hair, Bruxism, Ab... OMIM:616351
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Hearing impairment OMIM:620270
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... OMIM:608049
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... ORPHA:320401
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Mannosidosis, Beta A, Lysosomal
Seizure, Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Myoclonus, Gait disturb... OMIM:600795
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... OMIM:301008
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, EEG ... ORPHA:98794
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Self-injurious behavior, Impaired social interactions, Macrotia, Stereotypical hand wrin... ORPHA:397933
Phenylketonuria
Hyperactivity, Aggressive behavior, Blue irides, Seizure, Compulsive behaviors, Attention deficit... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man... OMIM:615541
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Clonic seizure, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms OMIM:615282
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsive behaviors OMIM:301107
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... OMIM:619157
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Posteriorly rotated ears, Thick hair, Infantile spasms, Tonic seizure, Aggressive ... OMIM:617773
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... ORPHA:168491
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Posteriorly rotated ears, Thin eyebrow, Low-set ears, High anterior hairline, Recurrent hand flap... OMIM:618147
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Aggressive behavior, Abnormality of skin pigmentation, Seizure, ... ORPHA:457260
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Self-injurious behavior, ... OMIM:614254
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Gait ataxia, ... OMIM:619092
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to ro... OMIM:301076
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... OMIM:607682
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... OMIM:271980
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Abnormal pinna morphology, Seizure, Gait disturbance, Inappropriate laught... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Seizure, Febrile seizure (within ... OMIM:615516
Alazami-Yuan Syndrome
Hyperactivity, Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... OMIM:617126
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M... OMIM:617600
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Seizure, Self-injurious behavior, Atten... OMIM:617695
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic seizure, Aggressive b... OMIM:619580
Ermine Phenotype
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... ORPHA:999
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
Hemifacial Atrophy, Progressive
Ataxia, Poliosis, Horner syndrome, Seizure, Microtia, Patchy alopecia OMIM:141300
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Hearing impairment OMIM:221350
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Obesity And Hypopigmentation
Red hair OMIM:620195
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Cryptorchid... ORPHA:485350
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure... OMIM:619913
Cln5 Disease
Hyperactivity, Generalized-onset seizure, Ataxia, EEG with spike-wave complexes, Aggressive behav... ORPHA:228360
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Vertigo, EEG with generalized sp... OMIM:613855
Atypical Rett Syndrome
Restrictive behavior, Infantile spasms, Impaired pain sensation, Inability to walk, Tongue thrust... ORPHA:3095
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus OMIM:605899
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Pendred Syndrome
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... ORPHA:705
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation of the skin... ORPHA:177910
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, High anterior hairline, Recurrent hand flapping, Inappropriate laughter OMIM:618859
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti ORPHA:1573
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Anteverted ears, Obsessive-compulsiv... ORPHA:544254
Christianson Syndrome
Generalized-onset seizure, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macrot... ORPHA:85278
Encephalopathy, Progressive, With Or Without Lipodystrophy
Seizure, Hyperactivity, Ataxia, Myoclonus OMIM:615924
Obesity, Hyperphagia, And Developmental Delay
Seizure, Abnormal repetitive mannerisms, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Seizure, Recur... OMIM:300624
Xq25 Microduplication Syndrome
Sparse eyebrow, Seizure, Hyperactivity, Highly arched eyebrow ORPHA:521258
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity, Macrotia OMIM:300928
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Ataxia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Attention deficit hyperact... OMIM:619725
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... ORPHA:894
Developmental And Epileptic Encephalopathy 64
Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, Low anterior hairline, Seizure,... OMIM:618004
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of ha... OMIM:300406
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Chorea... ORPHA:70472
Developmental And Epileptic Encephalopathy 47
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, In... OMIM:617166
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypsarrhyt... OMIM:619877
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Seizure precipitated by febrile infection, B... ORPHA:363558
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re... OMIM:618218
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Neur... ORPHA:206443
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Seizure, Progressive cerebellar ata... ORPHA:248111
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Synophrys, Abnormality of the outer ear, Self hugging, He... OMIM:182290
Angelman Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hyperactivity, Ataxia, Tongue thrusting, Sei... ORPHA:72
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Seizure OMIM:612716
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Seizure, Thick eyebrow OMIM:300979
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Highly arched eyebrow, Repetitive compulsive behavior, Cryptorchidism, Seizure, Co... ORPHA:352490
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hear... OMIM:600430
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Dysphagia, Seizure, Agitation, Focal impaired awareness seizure, Bruxism, Abnormal... OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Seizure, Attention deficit hypera... OMIM:618825
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Shyness, Seizure, Difficulty walking, Abnormal repetitive mannerisms ORPHA:280763
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Synophrys, Seizure, Coarse hair, Hirsutism, Hearing impairment OMIM:252920
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Bilateral conductive hearing... OMIM:617802
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Highly arched eyebrow, Inability to walk, Senso... ORPHA:457351
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Uplifted earlobe, Synophrys, Seizure, Macroorchidism OMIM:300143
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe... ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics OMIM:619927
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia, Hypoglycemic seizures ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia, Hypoglycemic seizures ORPHA:71526
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... ORPHA:218
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Aminoacylase 1 Deficiency
Hyperactivity, Seizure, Sensorineural hearing impairment, Bilateral tonic-clonic seizure OMIM:609924
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Seizure, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro... ORPHA:95433
Intellectual Developmental Disorder, Autosomal Recessive 73
Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Recurrent hand flapping OMIM:619717
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Supernumerary nipple, Aggressive behavior, Synophrys, Impaired so... OMIM:616083
Ritscher-Schinzel Syndrome 4
Curly hair, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset... OMIM:619435
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Inability to walk, Sensorineur... ORPHA:52368
4Q21 Microdeletion Syndrome
Synophrys, Seizure, Self-injurious behavior, Long eyelashes, Low-set ears, Abnormal repetitive ma... ORPHA:238750
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ... ORPHA:3214
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Synophrys, Seizure, Bruxism, Recurrent hand flapping OMIM:613192
Classic Phenylketonuria
Hypopigmentation of hair, Seizure, Self-injurious behavior, Attention deficit hyperactivity disor... ORPHA:79254
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure outside the age of 3 months to 6 years, Unilateral cryptorchidism, Aggressive beh... OMIM:617788
Radio-Tartaglia Syndrome
Synophrys, Low anterior hairline, Conductive hearing impairment, Abnormal repetitive mannerisms, ... OMIM:619312
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys,... ORPHA:3306
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow OMIM:225050
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hearing impairment, Prot... OMIM:618342
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... OMIM:613266
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Aggressiv... OMIM:300912
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Seizure, EEG abnormality, ... ORPHA:157941
Waardenburg Syndrome, Type 3
Partial albinism, Sensorineural hearing impairment, Synophrys, Blue irides, Hypopigmented skin pa... OMIM:148820
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, ... OMIM:123450
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Blue irides, Seizure, Progressive gait ataxia, EEG abnor... OMIM:105830
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Ataxia-Telangiectasia
Hypopigmentation of hair, Ataxia, Premature graying of hair, Seizure, Gait disturbance, Multiple ... ORPHA:100
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Ataxia, Aggressive behavior, Seizure, Self-injurious behavior, Gait disturbance, Comp... OMIM:300986
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Synophrys, Seizure, Coarse hair, Hirsutism, Hearing impairment OMIM:252900
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Bilateral tonic-clonic seizure, Seizure, Pigmentar... ORPHA:79264
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Muenke Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Hypermela... ORPHA:53271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Focal EEG discharges with secondary generalization, Anorexia, Ag... ORPHA:3077
Childhood Disintegrative Disorder
Seizure, Abnormal repetitive mannerisms, Impaired social interactions ORPHA:168782
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Synophrys, Macrotia, Abnorma... ORPHA:391307
Coffin-Siris Syndrome 2
Sparse scalp hair, Hyperactivity, Thick eyebrow, Abnormal pinna morphology, Absent fifth fingerna... OMIM:614607
Intellectual Developmental Disorder, Autosomal Recessive 79
Broad-based gait, Tongue thrusting, Oligomenorrhea, Gait ataxia OMIM:620393
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Shyness, Seizure, Self-injurious behavior, Abnormal temper ta... ORPHA:449291
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Cryptorchidism, Low a... ORPHA:369891
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Seizure, Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive ... OMIM:618504
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Bilateral tonic-clonic seizure, Seizure, Gait disturbance, Macrotia, A... ORPHA:457240
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Ataxia, White eyebrow, Short-segment agangl... OMIM:609136
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Synophrys, Hypertrichosis, Seizure, Coarse hair, Dysphagia, Hirsutism, Hearing imp... OMIM:252930
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Posteriorly rotated ears, Sparse eyelashes, Highly arched eyebrow, Sparse eyeb... OMIM:619293
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Seizure, Hyperactivity OMIM:617169
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chorea, Inability to w... OMIM:300260
Coffin-Siris Syndrome 7
Hypoplastic fifth toenail, Hyperactivity, Sparse scalp hair, Posteriorly rotated ears, Severe tem... OMIM:618027
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Seizure, Attention deficit hyperacti... OMIM:301013
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... OMIM:300558
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Gait ataxia, Seizure, Status epilepticus, Myoclonus, Generalized hirsutism ORPHA:363400
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hea... OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Highly arched eyebrow, Sensorineural hearing impairment, Synophrys, Seizure, Low-s... OMIM:617751
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Thick eyebrow, Aggressive behavior, Synophrys, Low anterior hairline, Seizure... OMIM:617061
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hyperactivity, Aggressive behavior, Tonic seizure, Sparse eyebrow, Sensorineural hear... OMIM:620075
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Seizure, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline OMIM:617523
Alazami Syndrome
Abnormal eating behavior, Sparse eyebrow, Seizure, Low-set ears, Abnormal repetitive mannerisms, ... ORPHA:319671
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention d... OMIM:619121
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormality of the ear, Seizure, EEG abnormality, Frontal upsweep... ORPHA:391372
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cryptorchidism, Blue irides, Red hair, Fair hair OMIM:614613
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Synophrys, Seizure, Mi... OMIM:616977
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Abnormal repetitive mannerisms, Ataxia, Nocturnal seizures, Stereotyp... OMIM:619229
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Dysphagia, Choreoathetosis, Bilateral sensorineural hearing impairment, Bruxism, Self-mut... OMIM:619422
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... OMIM:617865
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:529965
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Low posterior hairline, Seizure, Self-injurious behavior, Compulsive be... OMIM:613174
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Cryptorchidism, Seizure, Azoospermia, Infertility, Attent... ORPHA:10
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Seizure, Tics, Low-set ears, Attention deficit hyperactivity disorder, ... OMIM:617808
7Q31 Microdeletion Syndrome
Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlar... ORPHA:251061
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Seizure, Compulsive behavio... OMIM:618430
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Gait ataxia, Prominent antihelix, Difficulty walking... OMIM:617807
Pilarowski-Bjornsson Syndrome
Seizure, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow OMIM:617682
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Pre... ORPHA:73272
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Seizure, EEG abnormality, Abnormal repetitive mannerism... OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Hearing impairment OMIM:300958
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Alopecia, Posteriorly rotated ears, Ataxia, Seizure, Self-injurious behavior, Low-... OMIM:601853
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... ORPHA:500159
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Chorea, Seizure, Progressive gait ataxia ORPHA:157946
Apert Syndrome
Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Abnormal semicircular canal morph... ORPHA:87
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Cryptorchidism, Sensorineural hearing impairment, Synophrys, ... OMIM:615824
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, U... OMIM:212066
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Seizure, Myoclonus, Low-set e... OMIM:103050
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Impotence, Progressive hearing i... ORPHA:43
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Hypoplastic toenails, Toenail dys... OMIM:606232
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Somatic sensory dysfunction, Jerky head movements, Dysphagia ORPHA:240103
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Generalized-onset seizure, Focal-onset seizure, Cryptorchidism, Hypopi... ORPHA:457485
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple, Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive man... OMIM:616579
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... OMIM:300672
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Hyperactivity, Posteriorly rotated ears, Highly arched eyebrow, Ag... OMIM:301069
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
47,Xyy Syndrome
Male infertility, Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Oligozoospermia, Se... ORPHA:8
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Low-set ears, Attention def... OMIM:618205
Squalene Synthase Deficiency
Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral cryptorchidism, Abnormality of hair p... OMIM:618156
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Highly arched eyebrow, Low anterior hairline, Generalized non-mot... OMIM:615802
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Protruding ear, Seizure, Athetosis, EEG abnormality, Impaired social in... OMIM:613454
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Generalized non-motor (absence) seizure, Fine hair, Tics, ... ORPHA:363686
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Seizure, Self-injurious behavior, Abnormal repetitive mannerisms,... ORPHA:397612
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Seizure, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Gait ataxia, Seizure, Macrotia, Abnormal repetitive mannerisms, Se... OMIM:300486
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure OMIM:619239
Rett Syndrome
Inability to walk, Seizure, EEG abnormality, Gait disturbance, Agitation, Difficulty walking, Abn... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ear... OMIM:616393
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Smith-Magenis Syndrome
Impaired pain sensation, Synophrys, Seizure, Self-injurious behavior, EEG abnormality, Gait distu... ORPHA:819
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Choreoathetosis, Seizure, Attention deficit hyperactivity disor... ORPHA:261197
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia, Hypoglycemic seizures OMIM:609734
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Hyperactivity, Brow ptosis, Broad lateral eyebrow, Thick hair, Highly arche... OMIM:605130
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Head-banging, Seizure, Low-set ears, Attention deficit hyperactivity disorder, Fr... OMIM:619103
Ogden Syndrome
Abnormal head movements, Cryptorchidism, Fine hair, Shuffling gait, Low-set ears, Macrotia, Aplas... ORPHA:276432
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Synophrys, Dysphag... ORPHA:447997
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... ORPHA:1934
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, H... ORPHA:79330
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired social ... OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Pain insensitivity, Hyperactivity, Tonic seizure, Aggressive behavior, Cryptorchidi... OMIM:300534
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Sparse eyebrow, Optic atrophy, Dysphagia, Febrile seizure... ORPHA:496641
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Synophrys, Seizure, Compulsive be... OMIM:610253
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Optic atrophy, Myoc... OMIM:617281
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Aganglionic megacolon, Sensorineur... ORPHA:163746
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Hypermelanotic macule, Cryptorchidism, Optic atrophy... ORPHA:90321
Glass Syndrome
Restlessness, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Bilateral tonic-clonic s... OMIM:612313
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing imp... ORPHA:435638
2Q37 Microdeletion Syndrome
Sparse scalp hair, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Seizure, Attentio... ORPHA:1001
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (within the ag... OMIM:620073
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Underfolded superior helices, Seizure, Gait disturbance, A... OMIM:300352
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Seizure, Compulsive behaviors, Attention deficit hyperactivity disor... ORPHA:1727
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Agitation, Gait disturbance, Bruxism, Recurrent hand flapping OMIM:617903
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Abnormal repetitive mannerisms, Agitation, Ataxia ORPHA:927
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal r... OMIM:620242
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Broad-based gait, Abnormal hair pattern, Aggressive behavior, Synophrys, Abnormal ... ORPHA:85293
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Seizure, C... ORPHA:401777
Distal Deletion 10Q
Ataxia, Congenital sensorineural hearing impairment, Unsteady gait, Spina bifida occulta, Cochlea... ORPHA:96148
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Spotty h... ORPHA:401973
Brittle Cornea Syndrome 1
Red hair, Hearing impairment OMIM:229200
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Thick eyebrow, Aggressive behavior, Synophrys, Hirsutism, Seizure, C... OMIM:252940
Infantile Neuroaxonal Dystrophy
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Seizure, Gait disturbance, Abno... ORPHA:35069
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Ataxia, Inability to walk, Dysmetria, Seizure, Male hypogonadism, Gait disturbance... ORPHA:139396
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Abnormal location of the eyebrow, Repetitive compulsive behavior, Chorea, Widow's peak, E... ORPHA:522077
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Tip-toe gait, Microtia, Stereotypical body rocking... ORPHA:293939
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Seizure, Athetosis, Self-mutilation ORPHA:52503
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Choreoathetosis, Shuffling gait, Bruxism, Macroorchidism, Male hypogonadism... OMIM:300055
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Low-set ears, Bruxism, Macrotia OMIM:620149
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired t... ORPHA:398079
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... ORPHA:468678
Transketolase Deficiency
Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi... ORPHA:488618
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus OMIM:618314
Pitt-Hopkins Syndrome
Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Cupped ear, Gait ataxia, Seizure, Self-in... OMIM:610954
7Q11.23 Microduplication Syndrome
Dysmetria, Abnormal optic disc morphology, Chronic otitis media, Abnormal repetitive mannerisms, ... ORPHA:96121
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Pain insensitivity, Nail dystrophy, Nail dysplasia, Abnormal au... OMIM:256800
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia, Infantile spasms, Myoclonic seizure ORPHA:572013
Bainbridge-Ropers Syndrome
Thick eyebrow, Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Inability t... OMIM:615485
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy... OMIM:193500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Synophrys, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hyp... ORPHA:476126
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoplastic fifth toenail, Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Seiz... ORPHA:457279
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Head-bangi... ORPHA:177907
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Optic nerve hypoplasia, Focal-onset seizure, Sensorineural hearing impairment, De... ORPHA:300570
Congenital Ptosis
Congenital Horner syndrome, Premature ovarian insufficiency, Congenital facial diplegia, Piebaldi... ORPHA:91411
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Cryptorchidism, Synophrys, Seizure... OMIM:616078
Chediak-Higashi Syndrome
Hypopigmentation of hair, Ataxia, Decreased nerve conduction velocity, Silver-gray hair, Ocular a... OMIM:214500
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired t... ORPHA:98793
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Posteriorly r... OMIM:614756
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Posteriorly rotated ears, Prominent crus of helix, Inability to walk, Chorea, Synophrys, ... OMIM:617804
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Recurrent hand flapping, Unsteady gait, Pica, Low-set ears OMIM:618480
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired t... ORPHA:177904
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, Seizure, EEG abnormality, Abnormal repe... ORPHA:2479
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired t... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired t... ORPHA:177901
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Cryptorchidism, Synophrys... OMIM:617330
Cockayne Syndrome A
Dry hair, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:216400
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Prominent crus of he... OMIM:619695
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Tonic seizure, Cryptorch... OMIM:619512
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Seizure, Self-injurious behavior, Microtia, Stereotypical body r... ORPHA:261323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Impaired pain sensation, Cryptorchidism, Seizure, EEG abnormality, Long ey... OMIM:619005
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Impaired temperature sensati... ORPHA:398069
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Cryptorchidism, Protruding ear, Seizure, O... ORPHA:96169
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Synophrys, Protruding ear, Abnormality of skin pigmentation, Tics, Otitis media, ... OMIM:619475
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ataxia, Cryptorchidism, Sensorineural hearing impairment, Ocular albini... ORPHA:2719
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Seizure, Long eyelashes, Low-set ears, Dysphagia, ... ORPHA:319182
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Hypermelanotic macule, Cryptorchidism, Cafe-au-lait spot, Focal impaired awareness... OMIM:618505
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Microcephaly 29, Primary, Autosomal Recessive
Seizure, Hyperactivity, Ataxia, Thick eyebrow OMIM:620047
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity OMIM:609727
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Aggr... ORPHA:909
Kleefstra Syndrome
Highly arched eyebrow, Aggressive behavior, Supernumerary nipple, Cryptorchidism, Self-mutilation... ORPHA:261494
Mucopolysaccharidosis Type 3
Synophrys, Coarse hair, Otitis media, Thickened helices, Conductive hearing impairment, Chronic o... ORPHA:581
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Abnormal hair m... OMIM:133540
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Impaired p... OMIM:176270
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Dysphagia OMIM:610217
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms, Abnormal antihelix morphology, Protruding ear ORPHA:261144
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Seizure, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Gait disturbance, Abnormality of... ORPHA:90354
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Seizure, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia OMIM:616881
9P13 Microdeletion Syndrome
Hyperconvex nail, Highly arched eyebrow, Abnormality of cartilage of external ear, Hypoplastic to... ORPHA:324313
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... ORPHA:138
Hyperlysinemia
Hyperactivity, Simple febrile seizure, Dysmetria, Seizure, Tip-toe gait, Thin eyebrow, Dysphagia,... ORPHA:2203
Dilated Cardiomyopathy With Ataxia
Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Seizure, Bilateral sensorineura... ORPHA:66634
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Synophrys, Generalized non-motor (absence) s... OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... ORPHA:513456
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance ORPHA:213
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Orthostatic tachycardia, Focal-onset seizure,... ORPHA:217253
Rett Syndrome
Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Stereotypical hand wringing OMIM:312750
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Impaired temperature sensation, Cryptorch... ORPHA:739
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Hypopigmentation of the skin, Multifocal seizures, Posteriorly ro... OMIM:301066
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Coffin-Siris Syndrome
Sparse scalp hair, Hyperactivity, Thick eyebrow, Aggressive behavior, Hypoplastic fifth fingernai... ORPHA:1465
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Unsteady gait, Seizure, Nail dysplasia, Sparse hair, Loss of ambulation, Abnormal... OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, ... OMIM:301044
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic... OMIM:620330
Chronic Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Seizure, Self-injurious behavior, Low-set ears, A... OMIM:619575
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Niemann-Pick Disease, Type C2
Seizure, Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Hyperactivity, Sparse scalp hair, Posteriorly rotated ears, Cryptorchidism, Loose ana... OMIM:607721
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Impulsivity, Shyness, Protruding ear, Seizure, Microtia, Attention... OMIM:301030
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Hyperpigmentation of the skin, Akinesia, Optic atrophy, Phonic tics, Chore... OMIM:234200
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Anorexia, Ocular albinism, Melanocy... ORPHA:79430
Tuberous Sclerosis Complex
Epileptic spasm, Hyperactivity, Infantile spasms, Aggressive behavior, Impulsivity, Focal-onset s... ORPHA:805
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Aggressive behavior ORPHA:85327
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Somatic sensory dysfunction, Hypopigmentation of hair, Ataxi... ORPHA:167
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Tonic seizure, Abnormal repetitive manneri... OMIM:615873
Choreoacanthocytosis
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... ORPHA:2388
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Tics, Dystrophic fingernails, Abnormal repetitive mannerisms... OMIM:259050
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Abnormality of retinal pigmentation, Papilledema, Impulsivity, Aggre... ORPHA:580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Bilateral tonic-clonic seizure, Cryptorchidism, Sensorineural hearing i... OMIM:301040
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Cryptorchidism, Protruding ear, Seizure, Gait disturbance, Febr... ORPHA:464306
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Impulsivity, Impaire... ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Cupped ear, Optic atrophy, Protruding ea... OMIM:309590
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Low-set ears, Difficulty walking, Ov... OMIM:618653
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Cryptorchidism, Sensorineural hea... ORPHA:1606
Vici Syndrome
Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Ocular albinism, Seizure, L... OMIM:242840
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hypoplastic toenails, Hair-pulling, Seizure, Long eyelash... ORPHA:48652
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Sparse scalp hair, Posteriorly rotated ears, Facial palsy, H... OMIM:619325
Legius Syndrome
Hyperactivity, Inguinal freckling, Axillary freckling, Seizure, Vestibular schwannoma, Attention ... ORPHA:137605
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... ORPHA:1974
Okur-Chung Neurodevelopmental Syndrome
Ataxia, Highly arched eyebrow, Synophrys, Cupped ear, Low-set ears, Attention deficit hyperactivi... OMIM:617062
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Simple febrile seizure, Cryptorchidism, Protruding ear, Seizure, Gait disturba... ORPHA:464311
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Hearing impairment, Generalized non-motor (absence) seizure, Mult... ORPHA:369837
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... ORPHA:84064
Arboleda-Tham Syndrome
Posteriorly rotated ears, Highly arched eyebrow, Anteverted ears, Abnormal repetitive mannerisms,... OMIM:616268
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Posteriorly rotated ears, Underdeveloped superior crus of antihelix, Aggressive... ORPHA:369950
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Sparse scalp hair, Cryptorchidism, Protruding ear, Fine hair, ... ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Sei... ORPHA:468631
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Highly arched eyebrow, Abnormal fear-induced beh... ORPHA:353277
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Facial palsy, Hearing impairment, Optic nerve hypoplasia, Abnormal optic disc morphology, Abnorma... ORPHA:508498
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Inability to walk, Seizure, Abnormal repetitive mannerisms, Focal myoc... ORPHA:508533
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Highly arched eyebrow, Frontal balding, Sensorineural hearing imp... OMIM:612474
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pr... OMIM:619488
Menkes Disease
Hypopigmentation of hair, Chorea, Seizure, Sparse hair, Woolly hair ORPHA:565
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Sparse eyebrow, Cryptorchidism, Protru... OMIM:300855
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Highly arched eyebrow, Cryptorchidism, Sensorineural hearing impairmen... OMIM:194190
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Norrie Disease
Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Seizure, Abnorma... ORPHA:649
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial... OMIM:219800
Mowat-Wilson Syndrome
Uplifted earlobe, Conductive hearing impairment, Abnormal repetitive mannerisms, Ataxia, Cryptorc... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Hypoplastic toenails, Cryptorchidism, Hydrocele testis, Seizure, Microt... OMIM:619522
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Histidinemia
Hyperactivity ORPHA:2157
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Abnormal repetitive mannerisms, Highly arched eyebrow, Cryptorchidism, Seizure,... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000

Histopathology

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

There is no histopathology data for Mcoln3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mcoln3.

No publications found that use IMPC mice or data for Mcoln3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mcoln3tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Mcoln3tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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