Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
orthodenticle homeobox 1
Synonyms:
A730044F23Rik,  jv

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Otx1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Otx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Ectropion, S-shaped palpebral fissures, Highly arched eyebrow, Elevated circulating luteinizing h... ORPHA:572333
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Microtia, Cryptorchidism, Decreased ... ORPHA:163976
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Short stature, Hypogonadism, Intrauterine growth retardation, Abdomina... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Male hypogonadism, Hypospadias, Hypergonadotropic hypog... ORPHA:163971
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Decreased female libido, Oligozoospermia, Delaye... ORPHA:52901
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
49,Xxxyy Syndrome
External genital hypoplasia, Low-set, posteriorly rotated ears, Abnormality of the testis size, D... ORPHA:261534
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Bdv Syndrome
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... OMIM:619326
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
49,Xyyyy Syndrome
External genital hypoplasia, Low-set, posteriorly rotated ears, Azoospermia, Abnormality of the t... ORPHA:99330
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Mixed hearing impairment, Hypoplasia of t... ORPHA:2363
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Joubert Syndrome 36
Highly arched eyebrow, Sensorineural hearing impairment, Molar tooth sign on MRI, Ptosis OMIM:618763
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Isolated Congenital Alacrima
Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr... ORPHA:91416
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Anterior hypopituitarism, Ethmoidal encephalocele, Rhombencephalosyna... ORPHA:280195
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Aplasia Of Lacrimal And Salivary Glands
Absent lacrimal punctum, Lacrimal gland aplasia, Lacrimal gland hypoplasia OMIM:180920
Gómez-López-Hernández Syndrome
Telecanthus, Hydrocephalus, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Corneal ... ORPHA:1532
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the ... OMIM:611584
47,Xyy Syndrome
Male infertility, Dysgenesis of the cerebellar vermis, Hypospadias, Increased serum testosterone ... ORPHA:8
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Waardenburg Syndrome, Type 4C
Sensorineural hearing impairment, Lacrimal gland hypoplasia, Heterochromia iridis, White eyelashe... OMIM:613266
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Short stature, Ptosis, Downslanted palpebral fissures,... OMIM:305400
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, L... ORPHA:1772
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Bilateral tonic-clonic seizure, Decreased testicular size, Eunuchoid habitus, Feb... ORPHA:3044
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Sensorineural hearing impairment, Ptosis, Epicanthus, Upslanted palpebral fissure OMIM:620086
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608636
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Premature ovarian insufficiency, Abnormal cerebellum morphology, Decreased serum testos... ORPHA:101006
Perrault Syndrome 3
Sensorineural hearing impairment, Seizure, Hypergonadotropic hypogonadism, Short stature, Elevate... OMIM:614129
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Sensorineural hearing impairm... ORPHA:95512
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, S... ORPHA:95513
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Noonan Syndrome
Postnatal growth retardation, Low-set, posteriorly rotated ears, Sensorineural hearing impairment... ORPHA:648
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Lacrimoauriculodentodigital Syndrome 1
Recurrent corneal erosions, Mixed hearing impairment, Absence of Stensen duct, Hypoplasia of the ... OMIM:149730
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Hypospadias, Anencephaly, Dandy-Walker malforma... OMIM:614175
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Atrophy/Degeneration affecting th... ORPHA:356961
Meningioma
Focal-onset seizure, Impotence, Decreased circulating cortisol level, Abnormal hypothalamus physi... ORPHA:2495
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Vertigo, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insu... ORPHA:91349
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, Decreased testicular size, P... OMIM:619185
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Band ker... ORPHA:2959
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Low-set ears, Agenesis of corpus callosum OMIM:617127
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar atrophy, Ptosis, Agenesis of corpu... OMIM:617622
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Punctate corneal epithelial erosions, Lacrimal gland hypoplasia OMIM:103420
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Broad eyebrow, Hypospadias, Cerebellar vermis hypoplasia, Dandy-Walker m... ORPHA:495875
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Vertigo, Bilat... ORPHA:2382
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Palpebral edema, Abnormality of the orbital region, Sialadenitis, Abnor... ORPHA:449563
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia, Iris coloboma, Lacrimal duct atresia ORPHA:139450
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormality iris morphology, Seizure, Growth delay, Failure to... ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Dilated third ventric... OMIM:613154
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Age... OMIM:619111
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure with gener... ORPHA:101070
Developmental And Epileptic Encephalopathy 23
Telecanthus, Infantile spasms, Abnormal pinna morphology, Bilateral tonic-clonic seizure, Synophr... OMIM:615859
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Joubert Syndrome 35
Molar tooth sign on MRI, Telecanthus, Elongated superior cerebellar peduncle, Highly arched eyebr... OMIM:618161
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Charge Syndrome
Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Lop ear, D... OMIM:214800
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Hydrocephalus, Infantile spasms, Bilateral tonic-clonic seizure, Hypoplasia ... OMIM:619301
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Highly arched eyebrow, Cerebella... OMIM:608629
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypo... ORPHA:231169
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Decreased body weight, Low-set ears, Short... OMIM:300804
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Failure to thrive, Short stature, Hypogonadism, Decreased serum testos... OMIM:201100
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Epicanthus, Abnormal cornea morphology OMIM:229200
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Heteroc... ORPHA:90646
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Usher Syndrome Type 3
Vestibular hypofunction, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morpholo... ORPHA:231183
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal burst... OMIM:618718
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Hydrocephalus, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic s... OMIM:619302
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Feeding d... OMIM:620045
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Hydrolethalus Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum OMIM:614120
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Ptosis, Hypogonadism, Cataract ORPHA:1875
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy OMIM:614063
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Bruxism, Motor stereotypy, Aggressive behavior OMIM:619150
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Abnormal brainstem morphology, Seizure, Long eyelashes, Long palpebral fis... ORPHA:411493
Joubert Syndrome 9
Molar tooth sign on MRI, Astigmatism, Retinal dystrophy, Cataract, Ventriculomegaly OMIM:612285
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Telecanthus, Prominent ear helix, Infantile spasms, Syno... ORPHA:411986
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Kid Syndrome
Postnatal growth retardation, Corneal neovascularization, Prelingual sensorineural hearing impair... ORPHA:477
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Chorioretinal atrophy, Incomplete partition of the cochlea, Hearing i... OMIM:303110
Joubert Syndrome 40
Molar tooth sign on MRI, Almond-shaped palpebral fissure OMIM:619582
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Obesity, Abnormality of the ut... OMIM:194072
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Synophr... ORPHA:247768
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Delayed puberty, Delayed thelarche, Seizure, Short statu... OMIM:616033
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements ORPHA:71518
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Short palpebral fissure, Epileptic spasm, Curly eyelashe... ORPHA:3051
Joubert Syndrome 15
Exencephaly, Ambiguous genitalia, Molar tooth sign on MRI, Micropenis OMIM:614464
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Small pituitary gland, Bilateral tonic-clonic seizure wi... OMIM:620115
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Bi... OMIM:610688
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Poor suck, Abnormal lacrimal sac morphology, Ectropion of lowe... ORPHA:141083
Joubert Syndrome 14
Molar tooth sign on MRI, Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, Dandy-... OMIM:614424
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris coloboma, Posterior synechiae of the anteri... OMIM:612109
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Abnormal lacrimal ... ORPHA:79078
Joubert Syndrome 7
Molar tooth sign on MRI, Encephalocele, Brainstem dysplasia, Ptosis, Hypoplasia of the brainstem OMIM:611560
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Synophrys, Ptosis, Epicanthus, Blepharophimosis ORPHA:126
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Ptosis, Abnormality of retinal pigmentation, Epicanthus, ... OMIM:108145
Joubert Syndrome 2
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:608091
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Primary Dystonia, Dyt13 Type
Jerky head movements, Motor stereotypy ORPHA:98807
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Encephalocele, Highly arched eyebrow,... ORPHA:220497
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Frasier Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary am... ORPHA:347
Cerebellar-Facial-Dental Syndrome
S-shaped palpebral fissures, Inferior cerebellar vermis hypoplasia, Low-set ears, Abnormal midbra... ORPHA:444072
Nasopalpebral Lipoma-Coloboma Syndrome
Upper eyelid coloboma, Telecanthus, Low-set ears, Conjunctival hyperemia, Absent lacrimal punctum... OMIM:167730
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure, Medial flaring of the eyebrow, Synophrys, Precocious pub... OMIM:300801
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cerebellar cyst, Hydrocephalus, Abnormality iris morphology, Abnormal br... ORPHA:370959
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Seizure, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Encephalocele, Highly arched eyebrow,... ORPHA:2318
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Astigmatism, Generalized tonic seizure, Cerebellar vermis hypoplasia, Seizur... OMIM:618067
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Sensorineural hearing impairment, Primary ... OMIM:617565
Spastic Paraplegia 26, Autosomal Recessive
Posterior capsular cataract, Decreased serum testosterone concentration OMIM:609195
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Seizure, Abnormal cerebellum morphology, Failure to thrive, Agenes... ORPHA:255182
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Seizure, Hypergonadotropic hypogonadism, Short stature, Growth delay... ORPHA:250999
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Temple Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hydrocephalu... ORPHA:254516
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Joubert Syndrome 28
Highly arched eyebrow, Molar tooth sign on MRI OMIM:617121
Rubinstein-Taybi Syndrome
Telecanthus, Highly arched eyebrow, Seizure, Low-set ears, Short stature, Ptosis, Downslanted pal... ORPHA:783
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Satoyoshi Syndrome
Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabet... ORPHA:3130
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Encephalocele, Highly arched eyebrow,... ORPHA:220493
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct, Persistent pupillary membrane, Heterochromia ir... ORPHA:79414
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Inferior cerebell... OMIM:619476
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Absent lacrimal punctum, Cryptorchidism, Upslanted palpebral fissure, Hypoplastic lacrimal duct OMIM:273390
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Abnormal head movements, Aggressive behavior ORPHA:382
Crouzon Syndrome
Iris coloboma, Hydrocephalus, Hearing impairment, Conductive hearing impairment, Ptosis, Conjunct... ORPHA:207
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Hyperactivity, Low-se... ORPHA:251061
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Focal emotional seizure with laughing, Bilateral tonic-clonic seizure, Bilateral... ORPHA:293181
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Focal tonic seizure, Bilatera... ORPHA:485350
Joubert Syndrome 18
Occipital encephalocele, Molar tooth sign on MRI, Agenesis of cerebellar vermis, Agenesis of corp... OMIM:614815
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Absent internal auditory canal, Corneal opacity, Long palpebral fissure, P... OMIM:620469
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Apert Syndrome
Ovarian neoplasm, Corneal erosion, Hydrocephalus, Sensorineural hearing impairment, Conductive he... ORPHA:87
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Failure to thrive, Myoclo... OMIM:620145
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia ORPHA:276183
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Highly arched eyebrow, Sensorineural hearing impairment, Seizure, L... OMIM:243310
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s... ORPHA:275864
Charge Syndrome
Delayed puberty, Highly arched eyebrow, Abnormal pinna morphology, Microtia, Bifid scrotum, Intra... ORPHA:138
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Coach Syndrome 3
Ptosis, Molar tooth sign on MRI OMIM:619113
Branchiootorenal Syndrome 1
Euthyroid goiter, Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplas... OMIM:113650
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Seizure, Bilateral tonic-clonic seizure, D... ORPHA:457240
Fontaine Progeroid Syndrome
Short palpebral fissure, Aplastic/hypoplastic lacrimal glands, Cerebellar vermis hypoplasia, Hydr... OMIM:612289
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Cerebellar atrophy, Bilat... OMIM:618141
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Downslanted palpebral fissures, Myoclo... OMIM:619000
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Dysgenesis of the cerebellar vermis, Colpocep... ORPHA:397715
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Lacrimal Duct Defect
Lacrimal duct atresia, Dacryocystocele, Dacryocystitis, Conjunctivitis OMIM:149700
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Cryptorchidism, Hypothyroidism, Status epilepticus, Foca... OMIM:613970
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Low-set ears, Bilateral tonic-clonic seizure, F... OMIM:616281
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Abnormal midbra... ORPHA:206448
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Decreased body weigh... ORPHA:99852
Wolfram Syndrome 1
Diabetes insipidus, Sensorineural hearing impairment, Seizure, Hypothyroidism, Ptosis, Growth del... OMIM:222300
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Episodic Ataxia Type 4
Vertigo, Abnormal head movements ORPHA:79136
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Lissencephaly 9 With Complex Brainstem Malformation
Enlarged tectum, Cerebellar vermis hypoplasia, Seizure, Infantile spasms, Cerebellar hemisphere h... OMIM:618325
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Sensorineural hearing impairment, Seizure, Pseudohypoparathy... ORPHA:464288
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Colpocepha... ORPHA:250972
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior OMIM:600795
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Highly arched eyebrow, Decreased corneal thickness, Abnorm... ORPHA:293967
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Sho... OMIM:617711
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Cerebell... OMIM:620540
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Telecanthus, Seizure, Infantile spa... OMIM:619616
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Highly arched eyebrow, Cerebellar ver... ORPHA:2754
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Bilateral ptosis, Startle-induced seizure, Abnormal brai... ORPHA:467166
Jacobsen Syndrome
Annular pancreas, Iris coloboma, Hypospadias, Telecanthus, Labial hypoplasia, Hydrocephalus, Abno... OMIM:147791
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Colpocephaly, Astigmatism, Hypospadias, Urogenital sinu... OMIM:618820
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Gangliocytoma
Focal-onset seizure, Adrenocorticotropic hormone excess, Abnormal brainstem morphology, Abnormal ... ORPHA:251937
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Protruding ear, Low-set ears, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Intrauterin... ORPHA:73246
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Seizure, Heterochromia iridis, Absent brainstem auditory respon... OMIM:609136
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Precocious puberty, Hearing impairment, Myocloni... OMIM:619877
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Short stature, Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Polymicrogyria Due To Tubb2B Mutation
Focal-onset seizure, Abnormal brainstem morphology, Seizure, Cerebellar atrophy, Hypoplasia of th... ORPHA:300573
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la... OMIM:614104
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Cerebellar atrophy, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:618917
Perrault Syndrome 2
Amenorrhea, Sensorineural hearing impairment, Streak ovary OMIM:614926
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Dandy-Walker malformation, Cerebellar vermis hypopl... ORPHA:163961
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormal pinna morphology, Hypoplastic nipples, Hypogonadism, Nasolacrimal duct obstruction OMIM:273400
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Keratoconus, Downslanted palpebral fissures, Agenesis of corpus callosum, Ventricu... OMIM:175700
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Microtriplication 11Q24.1
Keratoconus, Synophrys, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure ORPHA:289522
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Diabetes insipidus, Parotitis, Uveit... ORPHA:797
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:616409
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene... ORPHA:36387
Volvulus Of Midgut
Abdominal distention, Telecanthus, Long palpebral fissure, Constipation, Neonatal intestinal obst... OMIM:193250
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Pendred Syndrome
Goiter, Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malfo... OMIM:274600
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Seizure, Hyp... OMIM:606407
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Seizure, Tonic seizure, Atypical absence seizure OMIM:617771
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Low-set ears, Agenesis of corpus callosum OMIM:607131
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Lacrimoauriculodentodigital Syndrome 2
Microtia, Lacrimal duct atresia, Hearing impairment, Absent lacrimal punctum, Lacrimal duct aplas... OMIM:620192
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Seizure, Short stature, Ptosis, Growth delay, Epicanthus, Lacr... ORPHA:457193
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Attention deficit hyperactivity di... OMIM:618342
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death, Cataract, Ventriculomegaly, Cryptorchidism, Optic disc pallor OMIM:613730
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Astigmatism, Dilated third ventricle, Lateral ventricle dilatation, Partia... OMIM:617296
Robinow Syndrome
Mixed hearing impairment, External genital hypoplasia, Low-set ears, Clitoral hypoplasia, Decreas... ORPHA:97360
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Telecanthus, Abnormal eyelash morphology, Corneal opaci... ORPHA:2399
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Hypospadias, Seizure, Decreased body weight, Low-set ear... OMIM:300260
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Mccune-Albright Syndrome
Decreased fertility, Pancreatitis, Increased serum testosterone level, Abnormal testis morphology... ORPHA:562
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Non-obstructive azoospermia, Decreased testicular size, Globozoospermia... ORPHA:399808
Duplication Of The Pituitary Gland
Encephalocele, Decreased body weight, Abnormal pituitary gland morphology, Abnormal midbrain morp... ORPHA:314621
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoc... OMIM:617810
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Hydrocephalus, Seizure, Bilateral tonic-clonic seizure, ... OMIM:300558
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Bilateral ptosis, Absent eyelashes, Dilated third ventricle, Bilatera... ORPHA:544488
Distal Deletion 10Q
Postnatal growth retardation, Protruding ear, Astigmatism, Inferior cerebellar vermis hypoplasia,... ORPHA:96148
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:615744
Ramos-Arroyo Syndrome
Corneal ulceration, Absent retinal pigment epithelium, Chorioretinal atrophy, Choriocapillaris at... ORPHA:1051
Steinert Myotonic Dystrophy
Bilateral ptosis, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... ORPHA:273
Cerebellofaciodental Syndrome
Low-set ears, Hypoplasia of the pons, Short stature, Sparse eyebrow, Hypoplasia of the midbrain, ... OMIM:616202
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
External genital hypoplasia, Sensorineural hearing impairment, Abnormal nasolacrimal system morph... ORPHA:3220
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Seizure, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to th... OMIM:614736
Neovascular Glaucoma
Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere... ORPHA:94058
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Highly arched eyebrow, Generalized-... OMIM:615476
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Cerebellar atrop... OMIM:271980
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Hearing impairment, Nasolacrimal duct obstruction OMIM:614187
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Sensorineural hearing impairment, Seizure, Infantile spa... OMIM:617201
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Epileptic spasm, Hypoplasia of penis, Highly arched eyeb... ORPHA:96147
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Azoospermia, Decreased circulating dehydroepiandrosterone concentration, C... ORPHA:361
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, A... ORPHA:52429
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Marden-Walker Syndrome
Postnatal growth retardation, Inferior cerebellar vermis hypoplasia, Hypospadias, Dandy-Walker ma... OMIM:248700
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Rhombencephal... OMIM:619306
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Pontocerebellar Hypoplasia, Type 11
Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious b... OMIM:617695
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Telecanthus, Highly arched eyebrow, Abnormal pinna morphology, Absent eyelashes, Ptosis, Absent l... ORPHA:228396
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Silver-Russell Syndrome 3
Postnatal growth retardation, Penoscrotal hypospadias, Decreased body weight, Low-set ears, Unila... OMIM:616489
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness... ORPHA:90354
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Myoclonic seizure, Atonic seizure, Gen... OMIM:616421
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Cerebellar vermis hypoplasia, Axenfeld anomaly, Hypoplastic iris strom... OMIM:601631
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Overfolded helix, Large fleshy ears, Motor stereotypy OMIM:619092
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Microcornea, Dilated third ventricle, Constipation, Ptosis, Downslanted palpebral... ORPHA:464738
Alg6-Cdg
Seizure, Low-set ears, Failure to thrive, Cerebellar hypoplasia, Increased circulating androgen c... ORPHA:79320
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity, Nasolacrimal duct... ORPHA:440727
Bor Syndrome
Abnormal lacrimal duct morphology, Stenosis of the external auditory canal, Abnormal pinna morpho... ORPHA:107
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Keratoconus, Epicanthus, Upslanted ... ORPHA:401777
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Chorioretinitis, Iridocyclitis, Wei... OMIM:181000
Wolman Disease
Vomiting, Abdominal distention, Acute hepatic failure, Death in infancy OMIM:620151
Chromosome 19Q13.11 Deletion Syndrome, Distal
Postnatal growth retardation, Short palpebral fissure, Astigmatism, Hypospadias, Bifid scrotum, L... OMIM:613026
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure, Short stature, Growth delay, Hypogonadism, Testicular atrophy OMIM:618165
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:619428
Split hand/foot malformation 1 (SHFM1)
Sensorineural hearing impairment, Lacrimal duct aplasia DECIPHER:46
Craniofacial-Deafness-Hand Syndrome
Downslanted palpebral fissures, Sensorineural hearing impairment, Lacrimal duct atresia, Blepharo... ORPHA:1529
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Cerebellar vermis atrophy, Seizure, Sensorineural hearin... OMIM:618170
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Abnormal earlobe morphology, Corneal opacity, Severe short stature, Abnorma... ORPHA:2556
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Se... OMIM:216360
Xq28 (MECP2) duplication
Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Focal motor seizure, Seizure, Myoclonic seizure, Status ... OMIM:617665
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia,... ORPHA:35878
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure, Decreased response to growth hormone stimulation test, R... ORPHA:293978
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Smith-Magenis Syndrome
Abnormal middle ear morphology, Head-banging, Hyperactivity, Self hugging, Hearing impairment, Mo... OMIM:182290
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Dilated third ventricle, Agenesis of corpus callosum, Later... OMIM:619244
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Orofaciodigital Syndrome Xvi
Ptosis, Molar tooth sign on MRI, Low-set ears, Short palpebral fissure OMIM:617563
Noonan Syndrome 14
Low-set ears, Short stature, Downslanted palpebral fissures, Sparse eyebrow, Hyperhidrosis, Poste... OMIM:619745
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Intrauterine growth retardation, Hypospadias, Hydrocephalus, Dandy-Walker malforma... OMIM:257300
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Progressive hearing impairment, Decr... OMIM:616113
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Megalocornea, Bilateral tonic-cloni... OMIM:618354
Lopes-Maciel-Rodan Syndrome
Agitation, Bruxism, Dysphagia, Motor stereotypy OMIM:617435
Developmental And Epileptic Encephalopathy 111
Focal-onset seizure, Infantile spasms, Low-set ears, Bilateral tonic-clonic seizure, Long eyelash... OMIM:620504
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Intrauterine growth r... ORPHA:96181
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Encephalocraniocutaneous Lipomatosis
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal opacity, Abnormal ey... ORPHA:2396
Joubert Syndrome 8
Ptosis, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Proboscis Lateralis
Iris coloboma, Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of the ocular a... ORPHA:141099
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Holoprosencephaly, Agenesis of corpus callosum, Aplas... ORPHA:990
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Chiari type I malformation, Myoclonic absence seizure, Bilateral t... OMIM:617836
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... OMIM:600430
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Highly arched eyebrow, Seizure, Laterally extended eyebrow, Synophrys, Long eyelas... OMIM:610759
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasting hyperinsulinemia, S... ORPHA:769
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology... ORPHA:2315
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption ORPHA:103907
Branchio-Oculo-Facial Syndrome
Iris coloboma, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcornea, Conduct... ORPHA:1297
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Cerebellar atrophy, Megalocornea, Synophrys, Downslanted... OMIM:618729
Episodic Ataxia, Type 5
Typical absence seizure, Vertigo, Bilateral tonic-clonic seizure, Atypical absence seizure, Febri... OMIM:613855
Foxg1 Syndrome
Motor stereotypy, Bruxism, Stereotypical hand wringing, Paroxysmal bursts of laughter ORPHA:561854
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Abnormal cerebellum morphology, Growth delay OMIM:618242
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Impaired cortisol... OMIM:201810
Christianson Syndrome
Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Short palpebral fissure, Telecanthus, Highly arched eyeb... OMIM:612337
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Dravet Syndrome
Epilepsia partialis continua, Generalized clonic seizure, Focal-onset seizure, Generalized myoclo... ORPHA:33069
Japanese Encephalitis
Eyelid fasciculation, Focal motor seizure, Myoclonus, Inappropriate antidiuretic hormone secretio... ORPHA:79139
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Hypospadias, Small pituitary gland,... OMIM:619479
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Sensorineural hearing impairment, Lacrimal duct stenosis OMIM:609057
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Vertigo, Seizure, Hearing impairment, Myoclonus, Aplasia/Hypoplasi... ORPHA:79279
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Sensorineural hear... OMIM:618419
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Astigmatism, Hypospadias, Long palpebral fissure, Hypero... ORPHA:363686
Neurooculorenal Syndrome
Postnatal growth retardation, Aqueductal stenosis, Mixed hearing impairment, Decreased circulatin... OMIM:620305