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Gene: Mcoln3 MGI:1890500

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

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.

Human diseases associated with Mcoln3 (0 diseases)
Human diseases predicted to be associated with Mcoln3 (613 diseases)

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	Matching phenotypes	Source
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation...	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	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Restrictive behavior, Inflexible adherence to routin...	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	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Deafness, Congenital, With Total Albinism	Albinism, Hearing impairment	OMIM:220900
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Hearing impairment, Spotty hypopigmentation, Multiple cafe-au-lait sp...	ORPHA:241
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea...	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	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Low-set ears, Seizure, Hyperactivity, EEG abnormality, Cafe-au-lait spot, Abnormal social behavior	ORPHA:436151
Waardenburg Syndrome, Type 2B	Heterochromia iridis, Sensorineural hearing impairment, White forelock, Premature graying of hair	OMIM:600193
Autism, Susceptibility To, 8	Impaired ability to form peer relationships, Restrictive behavior, Seizure, Inflexible adherence ...	OMIM:607373
Autism	Impaired ability to form peer relationships, Restrictive behavior, Seizure, Inflexible adherence ...	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	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Asperger Syndrome, Susceptibility To, 1	Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a...	OMIM:608631
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ...	ORPHA:998
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Seizure	OMIM:617787
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ...	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, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines	OMIM:300425
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Aggressive behavior, Gait ataxia, Fair hair, Seizure	OMIM:618808
Piebald Trait With Neurologic Defects	White forelock, Hearing impairment, Absent pigmentation of the ventral chest	OMIM:172850
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation	ORPHA:2222
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo...	OMIM:601706
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy, Reduced social reciprocity	OMIM:606053
Albinism-Deafness Syndrome	Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini...	OMIM:300700
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613265
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Seizure, Bruxism, Inappropriate laughter, Chorea, Focal-onset seizure, Aggressive behavior...	OMIM:619150
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Focal impaired awareness seizure, Atonic seizure, Seizure, Abnormal head...	ORPHA:382
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor...	ORPHA:895
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Seizure, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Seizure, Hyperactivity	ORPHA:356996
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity, Seizure	OMIM:300271
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Atonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hy...	OMIM:617113
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Female Restricted Epilepsy With Intellectual Disability	Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t...	ORPHA:101039
Tietz Albinism-Deafness Syndrome	Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes...	OMIM:103500
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Seizure, Gait ataxia, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity	OMIM:620448
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur...	ORPHA:2885
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Sensori...	OMIM:193510
Stxbp1-Related Encephalopathy	EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired awareness sei...	ORPHA:599373
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
N-Acetylaspartate Deficiency	Broad-based gait, Seizure, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy	OMIM:614063
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Agitation	OMIM:617171
Hyperprolinemia, Type I	Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus	OMIM:239500
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment	OMIM:300650
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Inappropriate lau...	ORPHA:411515
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Ataxia	OMIM:618709
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Cdkl5-Deficiency Disorder	Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Infantile spasms, S...	ORPHA:505652
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Landau-Kleffner Syndrome	Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Focal motor seiz...	ORPHA:98818
Developmental And Epileptic Encephalopathy 58	Optic atrophy, Seizure, Inability to walk, Hypsarrhythmia, Motor stereotypy, Status epilepticus	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	Optic atrophy, Broad-based gait, Small nail, Seizure, Aggressive behavior, Hyperactivity, Motor s...	OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-clonic seizure...	OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Generalized myoclonic seizure, Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait dis...	OMIM:618090
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh...	OMIM:600501
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic...	OMIM:619639
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Seizure, Inability to walk, Reduced social reciprocity, EEG abnormality,...	OMIM:617820
Lennox-Gastaut Syndrome	Falls, EEG with focal sharp slow waves, Vertigo, Myoclonus, Focal-onset seizure, Aggressive behav...	ORPHA:2382
Epilepsy With Eyelid Myoclonia	Continuous spike and waves during slow sleep, Abnormal head movements, Limb myoclonus, Generalize...	ORPHA:139431
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Inability...	OMIM:618917
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Seizure, Frontal upsweep of hair, Aggressive behavior, Hyperactivity, Ataxia, Abno...	OMIM:300983
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy...	OMIM:131960
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Sensorineural hearing impairment, Premature graying of hair	ORPHA:66633
Developmental And Epileptic Encephalopathy 107	Tonic seizure, Motor stereotypy, Clonic seizure, Seizure	OMIM:620033
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Inability to walk, Seizure, Hyperactivity, Generalized-onset seizure	OMIM:616657
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Schizophrenia 15	Hyperactivity	OMIM:613950
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:277580
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, Bilateral ton...	OMIM:619191
Developmental And Epileptic Encephalopathy 31A	Self-injurious behavior, Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spas...	OMIM:616346
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure	OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic...	OMIM:618141
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Low-set ears, Seizure, Premature graying of hair, Chorea, Gait ataxia, Self-mutilation, Hyperacti...	OMIM:620445
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Seizure, Ataxia	OMIM:613402
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Sen...	ORPHA:3437
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Chorea, Stereotypical ...	OMIM:618760
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive...	ORPHA:100973
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Gait imbalance, E...	ORPHA:98795
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure...	OMIM:617904
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines	OMIM:300495
Piebaldism	Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr...	ORPHA:2884
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Low-set ears, High anterior hairline, Thin eyebrow, Recurrent hand flapping, Posteriorly rotated ...	OMIM:618147
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Bruxism, Epileptic ...	OMIM:618497
Pitt-Hopkins-Like Syndrome 1	Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r...	OMIM:610042
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia	ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment, Ataxia	OMIM:271250
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Seizure, Inappropriate lau...	ORPHA:411511
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Generalized non-motor (absence) seizure, Prominent ear helix, Inability to walk, Large earlobe, L...	ORPHA:411986
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-...	OMIM:616056
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Somatic sensory dysfunction, Seizure, Abnormality of somatos...	ORPHA:320401
Hartnup Disorder	Seizure, Episodic ataxia, Generalized tonic seizure, Attention deficit hyperactivity disorder, Hy...	OMIM:234500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity	OMIM:619031
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Seizure, Hirsutism	ORPHA:85288
Foxg1 Syndrome	Difficulty walking, Inability to walk, Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure,...	ORPHA:561854
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im...	OMIM:619428
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Optic atrophy, Myoclonic seizure, Thin eyebrow, Low anterior hairline, M...	OMIM:619690
Pili Torti	Alopecia, Hearing impairment, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality ...	ORPHA:2889
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Low-set ears, Seizure, Inability to walk, Bruxism, Paroxysmal bursts of ...	OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Bruxism, Hyperactivity, Seizure, Hirsutism	OMIM:300434
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,...	ORPHA:725
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypopigmentation of the skin, Seizure, Premature graying of hair, Generalized hype...	ORPHA:33445
Developmental And Epileptic Encephalopathy 109	Crouch gait, Myoclonic seizure, Typical absence seizure, Gait ataxia, Myoclonus, Focal hemiclonic...	OMIM:620145
Shukla-Vernon Syndrome	Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse ...	OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Se...	OMIM:619827
Myoclonic-Astatic Epilepsy	EEG with irregular generalized spike and wave complexes, Frontal balding, Atonic seizure, General...	ORPHA:1942
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla...	ORPHA:79414
Autism, Susceptibility To, 3	Impaired ability to form peer relationships, Restrictive behavior, Seizure, Inflexible adherence ...	OMIM:608049
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Coarse hair, Hearing impairment, Bruxism, Bilateral tonic-clonic seizure, Curly...	OMIM:616351
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Seizure, Difficulty walking, Infantile spasms, Tonic seizure, Nocturnal seizures, Motor stereotyp...	OMIM:617393
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive trait, EEG with genera...	ORPHA:168491
Parasomnia, Sleep Bruxism Type	Bruxism, Myoclonus	OMIM:606840
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st...	OMIM:609425
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc...	ORPHA:275864
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac...	OMIM:301008
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Gait disturbance, Restless...	OMIM:600795
Coffin-Siris Syndrome 8	Self-injurious behavior, Seizure, Hypertrichosis, Long eyelashes, Thick eyebrow, Aggressive behav...	OMIM:618362
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Seizure, Reduced social reciprocity, Stereotypical hand wringing, Macrotia	ORPHA:397933
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Aggressive behavior, Hyperactivity, Hearing impairment, Ataxia	OMIM:620270
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons...	ORPHA:101046
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure	OMIM:615282
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Seizure, Generalized hirsutism, Polyphagia, Motor...	ORPHA:228402
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy, Seizure	OMIM:620065
Autosomal Dominant Spastic Ataxia Type 1	Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,...	ORPHA:251282
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, EEG with abnormally slow frequencies, Broad-based gait, Hypopigmentation o...	ORPHA:98794
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic...	OMIM:618357
Myoclonic Epilepsy, Familial Infantile	Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:605021
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait	OMIM:301107
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Aggressive...	OMIM:619157
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Seizure	OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia, Synophrys	OMIM:615541
Waardenburg-Shah Syndrome	Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnor...	ORPHA:897
Ravine Syndrome	Anorexia, Abnormal auditory evoked potentials, Ataxia	ORPHA:99852
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Self-injurious behavior, Myoclonic seizure, Seizure, Inability to walk, Bruxism, Inappropriate la...	OMIM:614254
Rasmussen Subacute Encephalitis	Bilateral tonic-clonic seizure with generalized onset, Focal motor seizure, Focal sensory seizure...	ORPHA:1929
Intellectual Developmental Disorder, Autosomal Recessive 61	Low-set ears, Highly arched eyebrow, Long eyelashes, Thick eyebrow, Infantile spasms, Dysmetria, ...	OMIM:617773
Phenylketonuria	Fair hair, Seizure, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:261600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Broad-based gait, Hearing impairment, Seizure, Aggressive behavior, Hyperactivity, Abnormality of...	ORPHA:457260
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Myoclonic seizure, Large fleshy ears, Gait ataxia, Myoclonus, Impaired tactile sens...	OMIM:619092
Atypical Rett Syndrome	Restrictive behavior, Neonatal seizure, Limb myoclonus, Seizure, Impaired pain sensation, Inabili...	ORPHA:3095
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Mannosidosis, Beta A, Lysosomal	Aggressive behavior, Hyperactivity, Seizure, Hearing impairment	OMIM:248510
Intellectual Developmental Disorder, Autosomal Dominant 7	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S...	OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Bilateral tonic-clonic seizure, Recurrent otitis media, Hyperactivity, Inflexible adherence to ro...	OMIM:301076
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H...	OMIM:271980
Intellectual Developmental Disorder, Autosomal Recessive 38	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ...	OMIM:615516
Developmental Delay With Or Without Epilepsy	EEG with frontal focal spikes, Myoclonic seizure, Atonic seizure, Generalized non-motor (absence)...	OMIM:620540
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte...	OMIM:620292
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Seizure, Difficulty walking, Inability to walk, Limb a...	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	Myoclonic seizure, Focal impaired awareness seizure, Hearing impairment, Inability to walk, Epile...	OMIM:619580
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Chorea, Recurrent hand flapping, Myoc...	OMIM:617600
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo, Hearing impairment	OMIM:221350
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Seizure, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, ...	OMIM:617519
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit...	OMIM:613670
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizur...	OMIM:618067
Obesity And Hypopigmentation	Red hair	OMIM:620195
Hemifacial Atrophy, Progressive	Seizure, Patchy alopecia, Horner syndrome, Ataxia, Poliosis, Microtia	OMIM:141300
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Hypogonadotropic hypogonadism, H...	ORPHA:177910
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Syngap1-Related Developmental And Epileptic Encephalopathy	Myoclonic absence seizure, Generalized-onset seizure, Abnormal eating behavior, Recurrent hand fl...	ORPHA:544254
Developmental And Epileptic Encephalopathy 103	Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a...	OMIM:619913
Glycine Encephalopathy 1	Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	High anterior hairline, Recurrent hand flapping, Inappropriate laughter, Seizure	OMIM:618859
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis...	OMIM:601455
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair	ORPHA:1573
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Ataxia, Abnormality of t...	ORPHA:705
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure	OMIM:613886
Christianson Syndrome	Generalized-onset seizure, Inappropriate laughter, Thick eyebrow, Gait ataxia, Dysphagia, Truncal...	ORPHA:85278
Encephalopathy, Progressive, With Or Without Lipodystrophy	Myoclonus, Hyperactivity, Seizure, Ataxia	OMIM:615924
Clcn4-Related X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Chorea, Infantile spas...	ORPHA:485350
Alazami-Yuan Syndrome	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Low anterior hairline, Hirsutism, Hyperacti...	OMIM:617126
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe...	ORPHA:206443
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizures, Bila...	OMIM:619725
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ...	ORPHA:208447
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Xq25 Microduplication Syndrome	Highly arched eyebrow, Sparse eyebrow, Hyperactivity, Seizure	ORPHA:521258
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear...	ORPHA:894
Childhood Absence Epilepsy	Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a...	ORPHA:64280
Gand Syndrome	Tics, Inappropriate laughter, Sparse hair, Hyperactivity	OMIM:615074
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Seizure, Macrotia	OMIM:300928
Smith-Magenis Syndrome	Pain insensitivity, Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-bangin...	OMIM:182290
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Seizure, Inability to walk, Bruxi...	OMIM:618004
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	EEG with abnormally slow frequencies, Seizure, Inability to walk, Chorea, Ataxia, Multifocal epil...	ORPHA:70472
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Developmental And Epileptic Encephalopathy 47	Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth...	OMIM:617166
Dentici-Novelli Neurodevelopmental Syndrome	Myoclonic seizure, Hearing impairment, Inability to walk, Epileptic spasm, Hypsarrhythmia, Bilate...	OMIM:619877
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Benign Paroxysmal Torticollis Of Infancy	Vertigo, Abnormal head movements, Ataxia	ORPHA:71518
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, EEG abnormality, Ataxia, Motor stereotypy, Choreoathe...	OMIM:618218
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Juvenile Huntington Disease	Broad-based gait, Seizure, Chorea, Gait ataxia, Myoclonus, Hyperactivity, Ataxia, Progressive cer...	ORPHA:248111
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Seizure, Nail dystrophy, Attention deficit hyperactivity disorder, Motor stereotypy, Optic nerve ...	OMIM:620502
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Angelman Syndrome	Broad-based gait, Polyphagia, Ataxia, Atypical absence seizure, Optic disc pallor, Dysphagia, Sel...	ORPHA:72
New-Onset Refractory Status Epilepticus	Focal aware motor seizure, Focal autonomic seizure, EEG with frontal epileptiform discharges, Myo...	ORPHA:363558
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ...	ORPHA:95433
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Seizure, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hy...	ORPHA:500180
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Pain insensitivity, Seizure, Stereotypical hand w...	OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Highly arched eyebrow, Seizure, Obsessive-compulsive trait, Aggressive behavi...	OMIM:618825
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Fragile X Syndrome	Abnormal head movements, Seizure, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia	OMIM:300624
Severe Intellectual Disability And Progressive Spastic Paraplegia	Seizure, Difficulty walking, Excessive shyness, Motor stereotypy, Waddling gait	ORPHA:280763
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hyperactivity, Bilatera...	OMIM:604317
Chromosome Xq25 Duplication Syndrome	Highly arched eyebrow, Sparse eyebrow, Seizure, Thick eyebrow, Hyperactivity	OMIM:300979
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Abnormal vestibular f...	ORPHA:52368
Lopes-Maciel-Rodan Syndrome	Seizure, Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Focal impaired awareness seizure, A...	OMIM:617435
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Sensorineural hearing impairment, Hyperactivity, Sparse hair	OMIM:300406
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Bilateral conductive hearing impairment, Seizure, Inability to walk, Long eyelashes...	OMIM:617802
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Red hair, Polyphagia, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Red hair, Polyphagia, Hypopigmentation of the skin	ORPHA:71526
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Seizure, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior	ORPHA:530983
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Highly arched eyebrow, Seizure, Attention deficit hyperactivity disorder, Repetitiv...	ORPHA:352490
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Highly arched eyebrow, Generalized myoclonic seizure, Generalized non-mo...	ORPHA:457351
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Xq28 (MECP2) duplication	Seizure, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy, Macrotia	DECIPHER:45
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Abnormal head movements	OMIM:616939
Aminoacylase 1 Deficiency	Bilateral tonic-clonic seizure, Hyperactivity, Seizure, Sensorineural hearing impairment	OMIM:609924
Intellectual Developmental Disorder, Autosomal Recessive 73	Low-set ears, Gait ataxia, Recurrent hand flapping, Posteriorly rotated ears, Impulsivity	OMIM:619717
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hearing impairment, Seizure, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys	OMIM:252920
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Sensorineural hearing impairment, Hyperpigment...	ORPHA:3214
Intellectual Developmental Disorder, Autosomal Dominant 67	Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors	OMIM:619927
Classic Phenylketonuria	Self-injurious behavior, Hypopigmentation of the skin, Seizure, Attention deficit hyperactivity d...	ORPHA:79254
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation	OMIM:225050
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Supernumerary nipple, Reduced social reciprocity, Aggressive behavior, Bilateral tonic-clonic sei...	OMIM:616083
4Q21 Microdeletion Syndrome	Self-injurious behavior, Low-set ears, Hearing impairment, Seizure, Long eyelashes, Generalized h...	ORPHA:238750
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:300454
Radio-Tartaglia Syndrome	Low-set ears, Small nail, Hearing impairment, Ataxia, Long eyebrows, Dysphagia, Motor stereotypy,...	OMIM:619312
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Highly arched eyebrow, Bruxism, Sensorineural hearing impairment, Protruding ear, A...	OMIM:618342
Intellectual Developmental Disorder, Autosomal Recessive 13	Seizure, Bruxism, Recurrent hand flapping, Hyperactivity, Synophrys	OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila...	OMIM:615637
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613266
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Inverted Duplicated Chromosome 15 Syndrome	Seizure, Hypogonadism, Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Sel...	ORPHA:3306
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Intellectual Developmental Disorder, X-Linked 98	Atonic seizure, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body roc...	OMIM:300912
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Sensorin...	OMIM:148820
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Seizure, Curly hair, Recurrent hand flapping, Aggressive behavior, Atten...	OMIM:300986
Huntington Disease-Like 1	Abnormal head movements, Seizure, Chorea, Gait ataxia, Dysmetria, Gait disturbance, EEG abnormali...	ORPHA:157941
Waardenburg Syndrome	Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ...	ORPHA:3440
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ...	ORPHA:101085
Ritscher-Schinzel Syndrome 4	Macrotia, Chorea, Curly hair, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ata...	OMIM:619435
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Long eyelashes, Low posterior hairline, Optic disc pallor, A...	OMIM:617523
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Fair hair, Seizure, Progressive gait ataxia, Blue...	OMIM:105830
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Primary Dystonia, Dyt13 Type	Motor stereotypy, Jerky head movements	ORPHA:98807
Intellectual Developmental Disorder, X-Linked 21	Seizure, Hyperactivity, Uplifted earlobe, Impulsivity, Synophrys	OMIM:300143
5Q14.3 Microdeletion Syndrome	Thick eyebrow, Motor stereotypy, Seizure, Optic nerve hypoplasia	ORPHA:228384
Optic Atrophy 11	Optic atrophy, Hearing impairment, Seizure, EEG with focal sharp waves, Stereotypical body rockin...	OMIM:617302
Episodic Ataxia Type 4	Vertigo, Abnormal head movements, Ataxia	ORPHA:79136
Cri-Du-Chat Syndrome	Low-set ears, Optic atrophy, Hearing impairment, Premature graying of hair, Difficulty walking, S...	OMIM:123450
Childhood Disintegrative Disorder	Motor stereotypy, Seizure, Reduced social reciprocity	ORPHA:168782
Juvenile Neuronal Ceroid Lipofuscinosis	Pigmentary retinopathy, Seizure, Interictal EEG abnormality, Loss of ambulation, Dysphagia, Myocl...	ORPHA:79264
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, Motor stereotypy, Macrotia, ...	ORPHA:391307
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin...	ORPHA:53271
Intellectual Developmental Disorder, Autosomal Dominant 51	Fixated interests, Sparse lateral eyebrow, Febrile seizure (within the age range of 3 months to 6...	OMIM:617788
Intellectual Developmental Disorder, Autosomal Recessive 79	Broad-based gait, Tongue thrusting, Gait ataxia, Oligomenorrhea	OMIM:620393
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Seizure, Recurrent otitis media, Recurrent han...	ORPHA:449291
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Mucopolysaccharidosis, Type Iiia	Coarse hair, Hearing impairment, Seizure, Hirsutism, Hyperactivity, Synophrys	OMIM:252900
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Ataxia-Telangiectasia	Seizure, Premature graying of hair, Gait disturbance, Multiple cafe-au-lait spots, Ataxia, Hypopi...	ORPHA:100
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, EEG with generalized epileptiform discharges, Seizure, EEG with general...	ORPHA:163681
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Macrotia, Recurrent otitis media, Thick eyebrow, Posteriorly ro...	OMIM:618027
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Attention deficit hyperact...	ORPHA:98784
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Horizontal eyebrow, Hearing impairment, Macrotia, Frontal upsweep of hair, Overfrie...	ORPHA:369891
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hearing impairment, Seizure, Hypertrichosis, Hirsutism, Hyperactivity, Dysphagia, Sy...	OMIM:252930
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Dysphagia, Disinhibition	OMIM:612069
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Self-injurious behavior, Pain insensitivity, Seizure, Thick eyebrow, Frontal upsweep of hair, Hir...	OMIM:617061
Intellectual Developmental Disorder, Autosomal Recessive 74	EEG with polyspike wave complexes, Hyperactivity, Seizure	OMIM:617169
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, Seizure, Hearing impairment, Decreased nerve conduction velocity, Sho...	OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Highly arched eyebrow, Seizure, Recurrent otitis media, Sensorineural hearing impai...	OMIM:617751
Intellectual Developmental Disorder, X-Linked 107	Seizure, Prominent crus of helix, Aggressive behavior, Attention deficit hyperactivity disorder, ...	OMIM:301013
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Severe Neurodegenerative Syndrome With Lipodystrophy	Seizure, Gait ataxia, Myoclonus, Generalized hirsutism, Hyperactivity, Ataxia, Status epilepticus	ORPHA:363400
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Ap...	OMIM:611584
Coffin-Siris Syndrome 2	Small nail, Seizure, Hearing impairment, Long eyelashes, Thick eyebrow, Absent fifth fingernail, ...	OMIM:614607
Intellectual Developmental Disorder, X-Linked 30	Generalized non-motor (absence) seizure, Seizure, Macrotia, Aggressive behavior, Hyperactivity, B...	OMIM:300558
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Thick eyebrow, Motor stereotypy, Seizure	ORPHA:529965
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, A...	ORPHA:99027
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Facial diplegia, Dysmetria, Aggressive behavior, Scissor gait, Attention d...	OMIM:619121
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Hyperactivity, Seizure	OMIM:617182
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Seizure, Focal EEG discharges w...	ORPHA:3077
Alazami Syndrome	Low-set ears, Sparse eyebrow, Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical h...	ORPHA:319671
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Low-set ears, Sparse eyebrow, Sensorineural hearing impairment, Aggressi...	OMIM:620075
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Seizure, Long eyelashes, Thick eyebrow, Over...	OMIM:619293
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Pilarowski-Bjornsson Syndrome	Broad eyebrow, Long eyelashes, Motor stereotypy, Seizure	OMIM:617682
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Seizure, Self-mutilation, Gait disturbance, Bilateral tonic-clonic seizure, Motor stereotypy, Mac...	ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Low-set ears, Generalized non-motor (absence) seizure, Seizure, Inability to ...	OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 43	Seizure, Hirsutism, Aggressive behavior, Attached earlobe, Hyperactivity, Ataxia, Microtia, Impul...	OMIM:616977
Spinocerebellar Ataxia, Autosomal Recessive 31	Bruxism, Self-mutilation, Ataxia, Bilateral sensorineural hearing impairment, Dysphagia, Choreoat...	OMIM:619422
Den Hoed-De Boer-Voisin Syndrome	Hypsarrhythmia, Ataxia, Dysphagia, Motor stereotypy, Generalized non-motor (absence) seizure, Ina...	OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Low-set ears, Motor stereotypy, Seizure	OMIM:613443
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Broad-based gait, Pica, Stereotypical body rocking, Thick eyebrow, Tongue ...	OMIM:617865
7Q31 Microdeletion Syndrome	Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop...	ORPHA:251061
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy, Seizure	OMIM:301094
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Macrotia	OMIM:618504
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Low-set ears, Seizure, Low posterior hairline, Posteriorly rotated ears,...	OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Seizure, Asymmetry of the ears, Obsessive-compulsive trait, Low anterior hairline, ...	OMIM:617796
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Seizure, Attention deficit hyperactivity disorder, P...	OMIM:617808
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides, Hyperactivity	OMIM:614613
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Seizure, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Comp...	OMIM:618430
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Prominent antihelix, Difficulty walking, Generalized-onset seizure, Gait ataxia...	OMIM:617807
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Huntington Disease-Like 3	Broad-based gait, Abnormal head movements, Seizure, Chorea, Progressive gait ataxia	ORPHA:157946
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor,...	OMIM:619260
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Hypogonadism, Congenital sensorineural hearing impai...	ORPHA:73272
Potocki-Lupski Syndrome	Hearing impairment, Seizure, Oral-pharyngeal dysphagia, Hyperactivity, EEG abnormality, Motor ste...	OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Broad-based gait, Hearing impairment, Seizure, Aggressive behavior, Hyperactivity	OMIM:300958
Apert Syndrome	Optic atrophy, Conductive hearing impairment, Sensorineural hearing impairment, Hydrocephalus, Ab...	ORPHA:87
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem...	ORPHA:1215
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Prominent antihelix, Generalized non-motor (absence) seizure, Seizure, Ina...	OMIM:615802
48,Xxyy Syndrome	Seizure, Azoospermia, Attention deficit hyperactivity disorder, Ataxia, Infertility, Motor stereo...	ORPHA:10
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Low-set ears, Alopecia, Seizure, Hyperactivity, Ataxia, Posteriorly rota...	OMIM:601853
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Compulsive behaviors, Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flap...	OMIM:620021
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Seizure, Long eyelashes, Thick eyebrow, Self-mutilation, Hirsutism, Stereotypical h...	OMIM:212066
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Progressive hearing impairment, Disinhibition, Aggressive behavior, ...	ORPHA:43
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis	OMIM:620023
Snijders Blok-Campeau Syndrome	Low-set ears, Broad-based gait, Myoclonic seizure, Infantile spasms, Attention deficit hyperactiv...	OMIM:618205
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Limb myoclonus, Jerky head movements, Somatic sensory dysfunction	ORPHA:240103
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Abnormal earlobe morphology, Seizure, Recurrent otitis media, Congenital s...	ORPHA:500159
Houge-Janssens Syndrome 3	Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ...	OMIM:618354
Phelan-Mcdermid Syndrome	Broad-based gait, Toenail dysplasia, Impaired pain sensation, Seizure, Hearing impairment, Bruxis...	OMIM:606232
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Chromosome Xq13 Duplication Syndrome	Highly arched eyebrow, Sparse lateral eyebrow, Seizure, Febrile seizure (within the age range of ...	OMIM:301069
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Impaired pain sensation, Supernumerary nipple, Gait ataxia, Overfriendliness, Motor...	OMIM:616579
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy, Seizure	ORPHA:85277
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Broad-based gait, Acroparesthesia, So...	ORPHA:206448
Rett Syndrome, Congenital Variant	Seizure, Bruxism, Chorea, Reduced social reciprocity, Protruding ear, Tongue thrusting, EEG abnor...	OMIM:613454
White-Sutton Syndrome	Self-injurious behavior, Low-set ears, Abnormality of the outer ear, Optic nerve hypoplasia, Over...	OMIM:616364
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio...	OMIM:113650
Galloway-Mowat Syndrome 6	Motor stereotypy, Paroxysmal bursts of laughter, Seizure	OMIM:618347
Adenylosuccinase Deficiency	Low-set ears, Seizure, Inability to walk, Inappropriate laughter, Gait ataxia, Myoclonus, Self-mu...	OMIM:103050
Developmental And Epileptic Encephalopathy 2	Seizure, Inability to walk, Generalized-onset seizure, Infantile spasms, Myoclonus, Hypsarrhythmi...	OMIM:300672
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ...	ORPHA:313892
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair, Generalized non-motor (absence) seizure, Inappropriate laughter, Obsessive-compulsive ...	ORPHA:363686
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal speech discrimination, Seizure, EEG with generalized slow activ...	ORPHA:397612
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Seizure, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity, Status epilepticus...	OMIM:615824
Developmental And Epileptic Encephalopathy 100	Myoclonic seizure, Typical absence seizure, Seizure, Hypoplastic fingernail, Febrile seizure (wit...	OMIM:619777
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Seizure, Generalized-onset seizure, Gait disturbance, Hyperactivity, ...	ORPHA:457485
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Seizure, Reduced social reciprocity, Sensorineural hearing impairm...	ORPHA:261197
Hyperlysinemia, Type I	Febrile seizure (within the age range of 3 months to 6 years), Dysdiadochokinesis, Seizure, Hyper...	OMIM:238700
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe...	ORPHA:247815
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Low-set ears, Bruxism, Infantile spasms, Hair-pulling, Aggressive behavi...	OMIM:616393
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Crumpled ear, Cupped ear, Small nail, Seizure, Hearing impairment, Front...	OMIM:620494
Rett Syndrome	Seizure, Difficulty walking, Inability to walk, Bruxism, Stereotypical hand wringing, Gait distur...	ORPHA:778
Smith-Magenis Syndrome	Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Seizure, Attenti...	ORPHA:819
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:610532
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Seizure, EEG with burst suppression, Infantile spasms, Tonic seizure, Hypsarrhythmia, Hyperactivity	OMIM:619239
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Red hair, Polyphagia	OMIM:609734
Mogs-Cdg	Optic atrophy, Alopecia, Fair hair, Seizure, Long eyelashes, Hirsutism, Sensorineural hearing imp...	ORPHA:79330
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Low-set ears, Infantile spasms, Hair-pulling, Protruding ear, Hypsarrhythmia, Dysphagia, Hyperact...	ORPHA:447997
Microtriplication 11Q24.1	Hearing impairment, Bruxism, Long eyelashes, Thick eyebrow, Attached earlobe, Posteriorly rotated...	ORPHA:289522
Infantile Krabbe Disease	Hyperesthesia, Optic atrophy, Delayed brainstem auditory evoked response conduction time, Hypopig...	ORPHA:206436
47,Xyy Syndrome	Low-set ears, Seizure, Male infertility, Azoospermia, Reduced social reciprocity, Attention defic...	ORPHA:8
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect	OMIM:619172
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Early Infantile Epileptic Encephalopathy	Self-injurious behavior, Generalized non-motor (absence) seizure, Episodic ataxia, Seizure, Febri...	ORPHA:1934
Chromosome 15Q11.2 Deletion Syndrome	Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Compulsive...	OMIM:615656
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Conductive hearing impairment, Seizure, Supernumerary nipp...	ORPHA:1001
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Seizure, Premature graying of hair, Hypogonadism, Abnormal eyebrow mo...	ORPHA:163746
Infantile Neuroaxonal Dystrophy	Ataxia, Optic atrophy, Seizure, Abnormality of peripheral nerve conduction, Gait disturbance, Abn...	ORPHA:35069
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Sparse eyebrow, Febrile seizure (within the age range of 3 months to 6 years), Hir...	ORPHA:496641
22Q11.2 Duplication Syndrome	Hearing impairment, Seizure, Anterior creases of earlobe, Attention deficit hyperactivity disorde...	ORPHA:1727
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Seizure, Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia	OMIM:300486
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Myoclonic seizure, Long eyelashes, Thick eyebrow, Myoclonus, Tonic seizure, Hypera...	OMIM:617281
Cockayne Syndrome Type 1	Optic atrophy, Pigmentary retinopathy, Male hypogonadism, Hearing impairment, Seizure, Difficulty...	ORPHA:90321
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Seizure, Reduced social reciprocity, Aggressive behavior, Attention deficit hyp...	OMIM:300352
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Low-set ears, Broad-based gait, Cupped ear, Limb ataxia, Recurrent hand ...	OMIM:617101
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Motor stereotypy, Seizure, Agitation, Ataxia	ORPHA:927
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Generalized non-motor (absence) seizure, Sensorineural hearing impa...	ORPHA:435638
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster...	OMIM:620242
Glass Syndrome	Low-set ears, Broad-based gait, Restlessness, Seizure, Febrile seizure (within the age range of 3...	OMIM:612313
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Seizure, Bruxism, Recurrent hand flapping, Gait disturbance, Agitation	OMIM:617903
Brittle Cornea Syndrome 1	Red hair, Hearing impairment	OMIM:229200
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Squalene Synthase Deficiency	Low-set ears, Seizure, Abnormality of hair pigmentation, Posteriorly rotated ears, Macrotia, Opti...	OMIM:618156
Ogden Syndrome	Low-set ears, Shuffling gait, Abnormal head movements, Fine hair, Aplasia/Hypoplasia of the eyebr...	ORPHA:276432
Distal Xq28 Microduplication Syndrome	Tip-toe gait, Absent antihelix, Stereotypical body rocking, Aggressive behavior, Attention defici...	ORPHA:293939
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Limb myoclonus, Seizure, Hearing impairment, Difficulty walking, Inability to ...	ORPHA:139396
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Head-banging, Sparse lateral eyebrow, Seizure, Frequent temper tantrums, Attention ...	OMIM:619103
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal...	ORPHA:96148
X-Linked Creatine Transporter Deficiency	Seizure, Chorea, Self-mutilation, Hyperactivity, Ataxia, Athetosis	ORPHA:52503
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Horizontal eyebrow, EEG with focal sharp waves, Chorea, EEG with spike-wave complexes, Self-mutil...	ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hirsutism, Attention defi...	OMIM:620073
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Seizure, Abnormal earlobe morphology, Hypogonadism, Aggressive behavior, Abnorm...	ORPHA:85293
Kleefstra Syndrome 1	Hearing impairment, Seizure, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnorma...	OMIM:610253
White-Sutton Syndrome	Self-injurious behavior, Optic atrophy, Abnormality of the outer ear, Seizure, Febrile seizure (w...	ORPHA:468678
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Low-set ears, Bruxism, Chorea, Macrotia	OMIM:620149
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pain insensitivity, Shuffling gait, Seizure, Thick eyebrow, Protruding ear, Aggressive behavior, ...	OMIM:300534
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Seizure, Spotty hypopigmentation, Aggressive b...	ORPHA:401973
Mucopolysaccharidosis, Type Iiid	Low-set ears, Coarse hair, Hearing impairment, Seizure, Difficulty walking, Facial hirsutism, Rec...	OMIM:252940
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Transketolase Deficiency	Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive...	ORPHA:488618
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Shuffling gait, Male hypogonadism, Bruxism, Ataxia, Spastic gait, Restlessness, Choreoathetosis, ...	OMIM:300055
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus	OMIM:618314
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms	ORPHA:572013
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Postural hypotension with compensatory tachycardia, Nail dystrophy, Self-muti...	OMIM:256800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Abnormal temper tantrums, Seizure, Supernumerary nipple, Aggressive behavior, Ataxi...	ORPHA:457279
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Hypopigmentation of the skin, Seizure, Hypogonadism, Impaired temperatu...	ORPHA:398079
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Congenital sensorineural hearing impairment, Thick e...	OMIM:193500
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Seiz...	ORPHA:177907
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Seizure, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disor...	ORPHA:476126
Cockayne Syndrome A	Irregular menstruation, Optic atrophy, Pigmentary retinopathy, Dry hair, Abnormal auditory evoked...	OMIM:216400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Low-set ears, Seizure, Inability to walk, Focal-onset seizure, Reduced social reciprocity, Sensor...	ORPHA:300570
7Q11.23 Microduplication Syndrome	Hearing impairment, Abnormal earlobe morphology, Polyphagia, Abnormal optic disc morphology, Unst...	ORPHA:96121
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Low-set ears, Pica, Recurrent hand flapping, Unsteady gait	OMIM:618480
Pitt-Hopkins Syndrome	Self-injurious behavior, Cupped ear, Seizure, Sparse medial eyebrow, Supernumerary nipple, Gait a...	OMIM:610954
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Broad-based gait, Seizure, Short ear, Long eyelashes, Frontal upsweep of hair, Gait...	OMIM:614756
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Ocular albinism, ...	OMIM:214500
Bainbridge-Ropers Syndrome	Self-injurious behavior, Highly arched eyebrow, Low-set ears, Seizure, Supernumerary nipple, Inab...	OMIM:615485
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy	ORPHA:79155
Megalocornea-Intellectual Disability Syndrome	Seizure, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Ataxia, Motor stereotypy	ORPHA:2479
Pyruvate Dehydrogenase E2 Deficiency	Choreoathetosis, Jerky head movements, Ataxia	OMIM:245348
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Prominent crus of helix, Inability to walk, Thin eyebrow, Bruxism, Chorea, Stereoty...	OMIM:617804
Cerebrotendinous Xanthomatosis	Optic atrophy, Abnormal auditory evoked potentials, Somatic sensory dysfunction, Seizure, Abnorma...	ORPHA:909
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:98793
Rauch-Steindl Syndrome	Highly arched eyebrow, Prominent crus of helix, Protruding ear, Aggressive behavior, Attached ear...	OMIM:619695
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Self-injurious behavior, Abnormal temper tantrums, Hypopigmentation of the...	ORPHA:98754
21Q22.11Q22.12 Microdeletion Syndrome	Self-injurious behavior, Low-set ears, Small nail, Seizure, Recurrent otitis media, Bruxism, Ster...	ORPHA:261323
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity	OMIM:618914
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Head titubation, Seizure, Vestibular areflexia	ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 29	Self-injurious behavior, Low-set ears, Hearing impairment, Seizure, Febrile seizure (within the a...	OMIM:616078
Mucopolysaccharidosis Type 3	Hearing impairment, Sensorineural hearing impairment, Generalized hirsutism, Loss of ambulation, ...	ORPHA:581
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Hearing impairment, Hypsarrhythmia, Ataxia, Bilateral sensorineural hearing imp...	OMIM:619475
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Low-set ears, High anterior hairline, Myoclonic seizure, Optic atrophy, ...	OMIM:619512
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Wiedemann-Steiner Syndrome	Low-set ears, Seizure, Long eyelashes, Thick eyebrow, Generalized hirsutism, Aggressive behavior,...	ORPHA:319182
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Low-set ears, Broad-based gait, Horizontal eyebrow, Seizure, Thick eyebrow, G...	OMIM:617330
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Dry hair, Abnormal auditory evoked potentials, Seizure, Ab...	OMIM:133540
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Hypopigmentation of the skin, Seizure, Hypogonadism, Impaired temperatu...	ORPHA:398069
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Hyperactivity, Sensorineural hearing impairment	OMIM:609727
Microcephaly 29, Primary, Autosomal Recessive	Thick eyebrow, Hyperactivity, Seizure, Ataxia	OMIM:620047
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Impaired pain sensation, Seizure, Long eyelashes, Self-mutilation, Attenti...	OMIM:619005
Koolen-De Vries Syndrome	Seizure, Overfriendliness, Protruding ear, Abnormality of hair texture, Overfolded helix, Hypopig...	ORPHA:96169
Kleefstra Syndrome	Self-injurious behavior, Highly arched eyebrow, Hearing impairment, Seizure, Supernumerary nipple...	ORPHA:261494
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Ocular albinism, Sensorineural hearing impairment, EEG abnormality, Ataxia...	ORPHA:2719
Foxg1 Syndrome Due To 14Q12 Microdeletion	Protruding ear, Motor stereotypy, Abnormal antihelix morphology, Seizure	ORPHA:261144
Brittle Cornea Syndrome	Gait disturbance, Conductive hearing impairment, Abnormality of hair pigmentation, Sensorineural ...	ORPHA:90354
Neurodegeneration With Brain Iron Accumulation 2B	Seizure, Chorea, Gait ataxia, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochokinesis, Impulsivity	OMIM:610217
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Menometrorrhagia, Hypopigmentation of the skin, Ocular albinism, Partial a...	ORPHA:79430
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Ataxia	OMIM:616881
9P13 Microdeletion Syndrome	Low-set ears, Highly arched eyebrow, Recurrent otitis media, Bruxism, Thick eyebrow, Hypoplastic ...	ORPHA:324313
Kinsship Syndrome	Low-set ears, Generalized non-motor (absence) seizure, Hypertrichosis, Bruxism, Myoclonus, Bilate...	OMIM:619297
Legius Syndrome	Inguinal freckling, Hearing impairment, Seizure, Vestibular schwannoma, Attention deficit hyperac...	ORPHA:137605
Cystinosis	Polydipsia, Gait disturbance, Motor stereotypy	ORPHA:213
Hyperlysinemia	Hypoplastic helices, Hypoplasia of the antihelix, Tip-toe gait, Seizure, Thin eyebrow, EEG with s...	ORPHA:2203
Rett Syndrome	Bruxism, Gait ataxia, Stereotypical hand wringing, Gait apraxia, Truncal ataxia	OMIM:312750
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Sparse lateral eyebrow, Generalized non-motor (absence) seizure, Seizure, Febri...	ORPHA:513456
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment, Seizure	OMIM:193700
Joubert Syndrome 6	Motor stereotypy, Ataxia	OMIM:610688
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat...	ORPHA:138
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Low-set ears, Head-banging, Seizure, Recurrent otitis media, Frequent te...	OMIM:619575
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Seizure, EEG with parietal focal spikes, Recurrent otitis media, EE...	OMIM:301066
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Myoclonic seizu...	OMIM:620330
Prader-Willi Syndrome	Hypopigmentation of the skin, Seizure, Hypogonadism, Impaired temperature sensation, Polyphagia, ...	ORPHA:739
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Seizure, Sensorineural hearing impairment	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Seizure, Sensorineural hearing impairment	ORPHA:529808
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Highly arched eyebrow, Seizure, Infantile spasms, Hirsutism, Low anterior hairline, Posteriorly r...	OMIM:301044
Nmda Receptor Encephalitis	Seizure, Generalized-onset seizure, Orthostatic tachycardia, Chorea, Myoclonus, Focal-onset seizu...	ORPHA:217253
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Seizure, Focal clonic seizure, EEG with burst ...	ORPHA:171929
Niemann-Pick Disease, Type C2	Motor stereotypy, Dysphagia, Seizure, Ataxia	OMIM:607625
Van Esch-O'Driscoll Syndrome	Seizure, Protruding ear, Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder,...	OMIM:301030
Coffin-Siris Syndrome	Prominent eyelashes, Small nail, Seizure, Hypertrichosis, Hearing impairment, Hypoplastic fifth f...	ORPHA:1465
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Optic atrophy, Pigmentary retinopathy, Akinesia, Obsessive-compulsive trait, Hyperpi...	OMIM:234200
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Seizure, Loss of ambulation, Nail dysplasia, Unsteady gait, Sparse hair, Motor stereotypy	OMIM:616682
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Optic atrophy, Otosclerosis, Conductive hearing impairment, Seizure, De...	ORPHA:580
Tuberous Sclerosis Complex	Self-injurious behavior, Seizure, Ungual fibroma, Epileptic spasm, Infantile spasms, Focal-onset ...	ORPHA:805
Choreoacanthocytosis	Hair-pulling, Loss of ambulation, Dysphagia, Socially inappropriate behavior, Self-injurious beha...	ORPHA:2388
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Seizure, Somatic s...	ORPHA:167
Noonan Syndrome	Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Thickened helices, Sensorin...	ORPHA:648
Helsmoortel-Van Der Aa Syndrome	Low-set ears, High anterior hairline, Typical absence seizure, Cupped ear, Seizure, Bruxism, Redu...	OMIM:615873
Primrose Syndrome	Ataxia, Self-injurious behavior, Superiorly displaced ears, Hearing impairment, Seizure, Sparse b...	OMIM:259050
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Hyperesthesia, Somatic sensory dysfunction, Painless fractures due to injury,...	ORPHA:642
Dyrk1A-Related Intellectual Disability Syndrome	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Breast hypoplasia, Protru...	ORPHA:464306
Vici Syndrome	Low-set ears, Hypopigmentation of the skin, Seizure, Ocular albinism, Sensorineural hearing impai...	OMIM:242840
Monosomy 22Q13.3	Impaired pain sensation, Seizure, Hearing impairment, Bruxism, Long eyelashes, Thick eyebrow, Hyp...	ORPHA:48652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Seizure, Sensorineural hearing impairment, Posteriorly rotated ears, Bilateral toni...	OMIM:301040
1P36 Deletion Syndrome	Self-injurious behavior, Optic atrophy, Horizontal eyebrow, Conductive hearing impairment, Seizur...	ORPHA:1606
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Seizure, ...	ORPHA:353281
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Seizure, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis	OMIM:612716
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Overfolded helix, Hypopigmentation of hair, Posteriorly rotated ears, Wido...	ORPHA:1974
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Optic atrophy, Cupped ear, Small nail, Seizure, Hearing impairment, Low posterior h...	OMIM:309590
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Highly arched eyebrow, Supernumerary nipple, Difficulty walking, Overfolded helix, ...	OMIM:618653
Coffin-Siris Syndrome 12	Low-set ears, Highly arched eyebrow, High anterior hairline, Prominent antihelix, Small nail, Sei...	OMIM:619325
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Frequent temper tantrums, Recurrent hand flappin...	OMIM:617062
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati...	ORPHA:84064
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Underdeveloped superior crus of antihelix, Broad-based gait, Hearing impairment, Thick eyebrow, A...	ORPHA:369950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Hearing impairment, Generalized non-motor (absence) seizure, EEG with generalized s...	ORPHA:369837
Arboleda-Tham Syndrome	Low-set ears, Highly arched eyebrow, Optic atrophy, Small earlobe, Prominent antihelix, Seizure, ...	OMIM:616268
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Seizure, Protruding ear, Attention deficit hyperactivity disorder, Gait disturbance, Simple febri...	ORPHA:464311
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hearing impairment, Hypertrichosis, Abnormal optic disc morphology, Facial palsy, Motor stereotyp...	ORPHA:508498
Charge Syndrome	Low-set ears, Cupped ear, Aplasia of the semicircular canal, Sensorineural hearing impairment, Mi...	OMIM:214800
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Fine hair, Seizure, Low-set, posteriorly rotated ears, Azoospermia, Prot...	ORPHA:534
Degcags Syndrome	Low-set ears, Hypopigmentation of the skin, Hearing impairment, Oral-pharyngeal dysphagia, Premat...	OMIM:619488
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Focal myoclonic seizure, Seizure, Inability to walk, Generalized-onset seizure, Motor stereotypy	ORPHA:508533
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Highly arched eyebrow, Low-set ears, Frontal balding, Generalized non-mo...	OMIM:612474
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Seizure, Thin ear helix, Low-set, posteriorly rotated ears, Bilateral se...	ORPHA:468631
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Highly arched eyebrow, Trichiasis, Low-set ears, Conductive hearing impa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Highly arched eyebrow, Trichiasis, Low-set ears, Conductive hearing impa...	ORPHA:353277
Menkes Disease	Sparse hair, Seizure, Chorea, Hypopigmentation of hair, Woolly hair	ORPHA:565
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Optic atrophy, Seizure, Low-set, posteriorly rotated ears, Sensorineural...	ORPHA:818
Ogden Syndrome	Low-set ears, Sparse eyebrow, Fine hair, Generalized-onset seizure, Recurrent otitis media, Long ...	OMIM:300855
Distal Renal Tubular Acidosis	Enlarged vestibular aqueduct, Sensorineural hearing impairment	ORPHA:18
Norrie Disease	Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Seizure, Sensorineural hearing...	ORPHA:649
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Conductive hearing impairment, Seizure, Hyperconvex fingernails, Stenosis ...	OMIM:194190
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Polydipsia, Retinal pigment epithelial mott...	OMIM:219800
Mowat-Wilson Syndrome	Broad-based gait, Recurrent otitis media, Sensorineural hearing impairment, Chordee, Uplifted ear...	ORPHA:2152
Cardiospondylocarpofacial Syndrome	Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi...	OMIM:157800
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Seizure, Hypoplastic toenails, Attention deficit hyperactivity disorder, Chordee, P...	OMIM:619522
Histidinemia	Hyperactivity	ORPHA:2157
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Seizure, Inability to walk, Bruxism, Recurrent otitis ...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Broad-based gait, Optic atrophy, Impaired pain sensation, Seizure, Inabili...	ORPHA:261552
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy, Seizure	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
Mcoln3^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Mcoln3^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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