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Gene: Otx1 MGI:97450

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
orthodenticle homeobox 1
Synonyms:
A730044F23Rik,  jv

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 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, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Low-set ears, Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lac... 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
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Intrauterine... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Macrotia, Absence of secondary sex characteristics, Decreas... ORPHA:163971
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Progressive hearing impairment, Decreased serum testosterone concentratio... ORPHA:453533
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Normosmic Congenital Hypogonadotropic Hypogonadism
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... ORPHA:432
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Lacrimoauriculodentodigital Syndrome
Low-set ears, Xerostomia, Cryptorchidism, Limbal stem cell deficiency, Sensorineural hearing impa... ORPHA:2363
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Joubert Syndrome 36
Highly arched eyebrow, Ptosis, Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... ORPHA:91416
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Central diabetes insipi... ORPHA:280195
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia OMIM:180920
Gómez-López-Hernández Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Telecanthus, Abnormal ... ORPHA:1532
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Ocular albinism, Hypoplasia of the iris, Aplasia of the semicircular canal... OMIM:611584
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Hetero... OMIM:613266
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova... ORPHA:2232
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchi... ORPHA:1772
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Febrile seizure (within... ORPHA:3044
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Sensorineural hearing impairment, Epicanthus, Ptosis, Iris cyst OMIM:620086
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Abnormal cerebellum ... ORPHA:101006
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Seizure, Streak ovary, Sensorineural hearing impa... OMIM:614129
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Noonan Syndrome
Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Delayed menarche, Postnatal gr... ORPHA:648
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor stereotypy, Mac... OMIM:609425
Lacrimoauriculodentodigital Syndrome 1
Corneal perforation, Cupped ear, Hearing impairment, Lacrimal gland hypoplasia, Downslanted palpe... OMIM:149730
Meckel Syndrome, Type 10
Occipital encephalocele, Seizure, Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, E... OMIM:614175
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Meningioma
Increased circulating prolactin concentration, Hemifacial spasm, Neoplasm of the posterior pituit... ORPHA:2495
Slc35A2-Cdg
Precocious puberty, Abnormal midbrain morphology, Cerebellar atrophy, Elevated circulating thyroi... ORPHA:356961
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Joubert Syndrome 37
Low-set ears, Cerebellar vermis hypoplasia, Decreased testicular size, Obesity, Cryptorchidism, P... OMIM:619185
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
47,Xyy Syndrome
Low-set ears, Varicocele, Dysgenesis of the cerebellar vermis, Seizure, Cerebellar dysplasia, Azo... ORPHA:8
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Cataract, Band keratopathy, Small for gestational age, Progressive sen... ORPHA:2959
Leber Congenital Amaurosis 4
Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti... OMIM:604393
Joubert Syndrome 30
Cerebellar atrophy, Agenesis of corpus callosum, Ptosis, Molar tooth sign on MRI, Superior cerebe... OMIM:617622
Orofaciodigital Syndrome Xv
Low-set ears, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Lacrimal gland hypoplasia, Punctate corneal epithelial erosions OMIM:103420
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Hypospadias, Cerebellar vermis hypoplasia, Sparse eyebrow, Hypoplasia of the pons, ... ORPHA:495875
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Lennox-Gastaut Syndrome
Vertigo, Abnormal brainstem morphology, Myoclonus, Focal-onset seizure, Generalized tonic seizure... ORPHA:2382
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Igg4-Related Ophthalmic Disease
Abnormal morphology of bony orbit of skull, Enlarged lacrimal glands, Keratitis, Abnormal optic n... ORPHA:449563
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Generalized non-motor (absence) seizure, 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
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma, Microtia ORPHA:139450
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Seizure, Downslanted palpebral fissures... ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Ventriculomegaly, Dilated third ventricle, Posterior synechiae of the anterior cha... OMIM:613154
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus,... OMIM:619111
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Typical absence seizure, Hypoplasia of the pons, Seizure, Hypoplasi... ORPHA:101070
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Long eyelashes, Infantile spasms, Myoclonus, Telecanthus, Thick eyebrow, ... OMIM:615859
Joubert Syndrome 35
Low-set ears, Highly arched eyebrow, Cerebellar vermis hypoplasia, Telecanthus, Elongated superio... OMIM:618161
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Charge Syndrome
Low-set ears, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing impairment, Hyp... OMIM:214800
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Hypoplasia of the pons, Hypoplasia of the brainstem, Infantile spasms, Agenesi... OMIM:619301
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Hearing impairment, Aplasia/hypoplasia of the uterus, Gonadal dysgenes... ORPHA:243
Joubert Syndrome 3
Low-set ears, Highly arched eyebrow, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, ... OMIM:608629
Usher Syndrome Type 1
Iris hypopigmentation, Cataract, Vestibular hypofunction, Sensorineural hearing impairment, Aplas... ORPHA:231169
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Perrault Syndrome 4
Decreased serum estradiol, Progressive sensorineural hearing impairment, Obesity, Hypoplasia of t... OMIM:615300
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Leber Congenital Amaurosis 9
Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves... OMIM:608553
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Joubert Syndrome 10
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Downslanted palpebral ... OMIM:300804
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Epicanthus, Decreased corneal thickness, Keratoglobus OMIM:229200
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa... ORPHA:231183
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal burst... OMIM:618718
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callosum, Ce... OMIM:619302
Intestinal Dysmotility Syndrome
Cataract, Decreased intestinal transit time, Diarrhea, Projectile vomiting, Abdominal distention,... OMIM:620045
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Ptosis ORPHA:1875
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Seizure, Abnormal brainstem morphology, Long eyelashes, Long palpebral fis... ORPHA:411493
Joubert Syndrome 9
Cataract, Ventriculomegaly, Astigmatism, Molar tooth sign on MRI, Retinal dystrophy OMIM:612285
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Generalized non-motor (absence) seizure, Prominent ear helix, Large earlo... ORPHA:411986
Kid Syndrome
Cerebellar vermis hypoplasia, Sparse eyebrow, Posterior blepharitis, Keratitis, Failure to thrive... ORPHA:477
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... OMIM:303110
Joubert Syndrome 40
Almond-shaped palpebral fissure, Molar tooth sign on MRI OMIM:619582
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Obesity, Cryptorch... OMIM:194072
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements ORPHA:71518
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Short palpebral fissure, Seizure, Generalized non-mo... ORPHA:3051
Joubert Syndrome 15
Micropenis, Molar tooth sign on MRI, Ambiguous genitalia, Exencephaly OMIM:614464
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Developmental And Epileptic Encephalopathy 108
Small pituitary gland, Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness... OMIM:620115
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Seizure, Generalized non-motor (absence) seizure, Delayed puberty, Hyperinsuli... OMIM:616033
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem, Dilated fourth... OMIM:610688
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Narrow palpebral fissure... ORPHA:141083
Joubert Syndrome 14
Low-set ears, Highly arched eyebrow, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, D... OMIM:614424
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Abnormal optic nerve morphology, Abnormality of t... ORPHA:79078
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Joubert Syndrome 7
Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Ptosis, Molar tooth sign on MRI OMIM:611560
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys ORPHA:126
Arthrogryposis, Distal, Type 5
Keratoconus, Astigmatism, Abnormality of retinal pigmentation, Epicanthus, Ptosis, Blepharophimos... OMIM:108145
Joubert Syndrome 2
Low-set ears, Dysgenesis of the cerebellar vermis, Failure to thrive, Seizure, Hypoplasia of the ... OMIM:608091
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Joubert Syndrome 16
Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI OMIM:614465
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Highly arched eyebrow, Seizure, Low-set, posteriorly rotated ears, ... ORPHA:220497
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Cataract, Inferior cerebellar vermis hypoplasia, Infancy onset shor... ORPHA:444072
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Sparse eyebrow, Cupped ear, Ectopic lacrimal punctum, Telecanthus, Lower eyelid col... OMIM:167730
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Decreased ser... OMIM:241080
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Hypoplasia of the pons, Occipital encephalocele, Megalocor... ORPHA:370959
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Generalized non-motor (absence) seizure, Downslanted palpebral fissures, Thic... OMIM:300801
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Progressive sensorineural hearing impairment, Seizure, Cochlear degeneration ORPHA:3233
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Low-set, posteriorly... ORPHA:2318
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Myoclonic seizure, Seizure, Downslanted palpebral fissures, Focal c... OMIM:618067
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Sensorineural hearing impairment, Primary amenorrhea, Prema... OMIM:617565
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Posterior capsular cataract OMIM:609195
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Seizure, Abnormal brainstem morphology, Abnormal cerebellum morphology, Agenes... ORPHA:255182
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Seizure, Cryptorchidism, Upslanted palpebral fissure, Short stature,... ORPHA:250999
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:254516
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele... OMIM:611134
Joubert Syndrome 28
Highly arched eyebrow, Molar tooth sign on MRI OMIM:617121
Rubinstein-Taybi Syndrome
Low-set ears, Highly arched eyebrow, Hearing impairment, Seizure, Downslanted palpebral fissures,... ORPHA:783
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Sparse or absent eyelashes, Amenorrhea, Hypo... ORPHA:3130
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct, Persistent pupillary membrane, Heterochromia ir... ORPHA:79414
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Highly arched eyebrow, Seizure, Low-set, posteriorly rotated ears, ... ORPHA:220493
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Upslanted palpebral fissure, Hypoplastic lacrimal duct, Cryptorchidism, Absent lacrimal punctum OMIM:273390
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Abnormal head movements, Hyperactivity ORPHA:382
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Inferior cerebellar vermis hypoplasia, Cerebe... OMIM:619476
Crouzon Syndrome
Conductive hearing impairment, Hearing impairment, Chiari malformation, Narrow internal auditory ... ORPHA:207
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Myoclonic seizure, Failure to thrive, Epileptic spasm, Bilateral tonic-clonic... ORPHA:293181
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Myoclonus, Cryptorchidism, Fo... ORPHA:485350
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of corp... OMIM:614815
Hypertrichosis Cubiti
Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal system morphology, Ptosis, A... ORPHA:2220
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Highly arched eyebrow, Myoclonic seizure, Profound sensorineural ... OMIM:620469
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Apert Syndrome
Chiari malformation, Conductive hearing impairment, Downslanted palpebral fissures, Agenesis of c... ORPHA:87
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy OMIM:613909
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Failure to thrive, Intrauterine growth retardation, M... OMIM:620145
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility ORPHA:276183
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Baraitser-Winter Syndrome 1
Low-set ears, Highly arched eyebrow, Failure to thrive, Chorioretinal coloboma, Seizure, Postnata... OMIM:243310
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Coach Syndrome 3
Ptosis, Molar tooth sign on MRI OMIM:619113
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Postnatal growth ... ORPHA:138
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Lacrimal duct aplas... OMIM:113650
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, High-frequency sensorineural he... ORPHA:2590
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Cataract, Elevated circulating luteinizing hormone level, Seizure, Decreased respon... OMIM:300845
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Decreased response to growth hormone stimulation test, Decreased testicular size, Cerebe... ORPHA:457240
Fontaine Progeroid Syndrome
Low-set ears, Small scrotum, Cerebellar vermis hypoplasia, Absent nipple, Short palpebral fissure... OMIM:612289
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... 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, Myoclonic seizure, Downslanted palpebral fissures, Thick eyebrow, Bila... OMIM:619000
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Occipital encephalocele, Lateral ventricle dilatation, Supernumerary nipple, Epican... ORPHA:397715
Lacrimal Duct Defect
Dacryocystocele, Conjunctivitis, Dacryocystitis, Lacrimal duct atresia OMIM:149700
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Cryptorchidism, Hypothyroidism, Bilateral tonic-clonic... OMIM:613970
Adult Krabbe Disease
Abnormal midbrain morphology, Delayed brainstem auditory evoked response conduction time, Abnorma... ORPHA:206448
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Low-set ears, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Epicanthus, Bi... OMIM:616281
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Abnormal brainstem morphology, Decreased ... ORPHA:99852
Episodic Ataxia Type 4
Vertigo, Abnormal head movements ORPHA:79136
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Lissencephaly 9 With Complex Brainstem Malformation
Low-set ears, Cerebellar vermis hypoplasia, Myoclonic seizure, Hypoplasia of the pons, Seizure, H... OMIM:618325
Wolfram Syndrome 1
Cataract, Growth delay, Hearing impairment, Seizure, Sensorineural hearing impairment, Hypothyroi... OMIM:222300
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Hypoplasia of the brainstem, Infantile spasms, Agenesis of corpus callosum, Dysplastic c... ORPHA:250972
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy OMIM:600795
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Decreased testicular size, Cryptorchidism, Congenital stationary night bli... ORPHA:293967
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Seizure, Obesity, Cryptorchidism, Pseudohypoparathyroidism, Sensorineural hearing impairment, Abn... ORPHA:464288
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Developmental Delay With Or Without Epilepsy
Myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:620540
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Highly arched eyebrow, Conductive hearing impairment, Failure to th... ORPHA:2754
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Downslanted palpebral fissur... OMIM:619616
Jacobsen Syndrome
Low-set ears, Iris coloboma, Microcornea, Annular pancreas, Failure to thrive, Chorioretinal colo... OMIM:147791
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Generalized non-motor (absence) seizure, Bi... ORPHA:467166
Genitourinary And/Or Brain Malformation Syndrome
Low-set ears, Abnormality of the outer ear, Clitoral hypertrophy, Chiari malformation, Streak ova... OMIM:618820
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Sparse eyebrow, Downslanted palpebral fissures, Intrauterine growth retardation, Cr... ORPHA:73246
Gangliocytoma
Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Abn... ORPHA:251937
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Seizure, Myoclonus, Cryptorchidism, Sensorineural hearing impairment, Heteroc... OMIM:609136
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Cataract, Myoclonic seizure, Hearing impairment, Epileptic spasm, Upslanted p... OMIM:619877
Bilateral Generalized Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Lateral ventricle dilatation, Generalized... ORPHA:208447
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure, Short stature OMIM:618596
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Seizure, Abnormal brain... ORPHA:300573
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Cryptorchidism... OMIM:618917
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Hyperactivity, Thickened helices, Motor ster... OMIM:614104
Perrault Syndrome 2
Amenorrhea, Streak ovary, Sensorineural hearing impairment OMIM:614926
Joubert Syndrome 1
Low-set ears, Highly arched eyebrow, Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar v... OMIM:213300
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Abnormal brainstem morphology... ORPHA:163961
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Thick eyebrow, Protruding ear, Inc... ORPHA:247768
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Ventriculomegaly, Downslanted palpebral fissures, Cryptorchidism, Agenesis of corpus... OMIM:175700
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Abnormal pinna morphology, Nasolacrimal duct obstruction OMIM:273400
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Microtriplication 11Q24.1
Keratoconus, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure, Synophrys ORPHA:289522
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atonic seizure,... OMIM:618587
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Sarcoidosis
Dacryocystitis, Cataract, Diabetes insipidus, Parotitis, Enlargement of parotid gland, Abnormal r... ORPHA:797
Volvulus Of Midgut
Telecanthus, Neonatal intestinal obstruction, Long palpebral fissure, Constipation, Abdominal dis... OMIM:193250
Generalized Epilepsy With Febrile Seizures-Plus
Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:36387
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Hypotonia-Cystinuria Syndrome
Failure to thrive, Seizure, Macrotia, Decreased response to growth hormone stimulation test, Post... OMIM:606407
Developmental And Epileptic Encephalopathy 57
Seizure, Epileptic spasm, Tonic seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Al-Gazali-Bakalinova Syndrome
Low-set ears, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Lacrimoauriculodentodigital Syndrome 2
Cupped ear, Hearing impairment, Lacrimal duct aplasia, Lacrimal duct atresia, Absent lacrimal pun... 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
Seizure, Low-set, posteriorly rotated ears, Cryptorchidism, Epicanthus, Ptosis, Short stature, La... ORPHA:457193
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ventriculomegaly, Cryptorchidism, Death in infancy, Neonatal death, Optic disc pallor OMIM:613730
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Astigmatism, Optic nerve dysplasia, Partia... OMIM:617296
Robinow Syndrome
Webbed penis, Small scrotum, Low-set ears, Decreased serum testosterone concentration, External g... ORPHA:97360
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Elevated circulating luteinizing hormone level, Chiari malformation, Abnormal earlo... ORPHA:95699
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Nasopalpebral Lipoma-Coloboma Syndrome
Hamartoma of the orbital region, Sparse eyebrow, Cataract, Lacrimal punctal atresia, Telecanthus,... ORPHA:2399
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Growth delay, Seizure, Generalized non-motor (absence) seizure, Cryptorchidism, Ups... OMIM:300260
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizur... OMIM:614018
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Hearing impairment, Encephalocele, Decreased body weight, Agenesis ... ORPHA:314621
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence) seizure, Cerebellar hypopl... OMIM:617810
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Downslanted palpebral fiss... ORPHA:544488
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri... ORPHA:96148
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of... ORPHA:139431
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Upslanted palpebral fissure, Hydrocephalus, Bil... OMIM:300558
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Ramos-Arroyo Syndrome
Keratitis, Xerostomia, Choriocapillaris atrophy, Upslanted palpebral fissure, Chronic constipatio... ORPHA:1051
Developmental And Epileptic Encephalopathy 19
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615744
Cerebellofaciodental Syndrome
Low-set ears, Cataract, Sparse eyebrow, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the... OMIM:616202
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Posterior subcapsular cataract, Bilateral ptosis, Decreased re... ORPHA:273
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Hearing impairment, Hypogonadism, Abnormal eyebrow morphology, External genital hypoplasia, Thin ... ORPHA:3220
Developmental And Epileptic Encephalopathy 18
Highly arched eyebrow, Generalized non-motor (absence) seizure, Downslanted palpebral fissures, G... OMIM:615476
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizu... OMIM:271980
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Hearing impairment, Nasolacrimal duct obstruction OMIM:614187
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Seizure, Abnormal circulating aldosterone, Increased circu... OMIM:614736
Periventricular Nodular Heterotopia 7
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Cryptorchi... OMIM:617201
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Heari... ORPHA:96147
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Marden-Walker Syndrome
Low-set ears, Inferior cerebellar vermis hypoplasia, Seizure, Hypoplasia of the brainstem, Postna... OMIM:248700
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle... OMIM:619306
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy, M... OMIM:617695
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Telecanthus, Thick eyebrow, Absent lacrimal punctum, Absent eyelashes, Pto... ORPHA:228396
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Brittle Cornea Syndrome
Corneal scarring, Decreased corneal thickness, Retinal detachment, Corneal dystrophy, Corneal ero... ORPHA:90354
Silver-Russell Syndrome 3
Low-set ears, Postnatal growth retardation, Decreased body weight, Ambiguous genitalia, Penoscrot... OMIM:616489
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Eyelid myoclonus, Gen... OMIM:616421
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Anterior Segment Dysgenesis 3
Cerebellar vermis hypoplasia, Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vas... OMIM:601631
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Overfolded helix, Motor stereotypy, Large fleshy ears OMIM:619092
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse eyebrow, Microcornea, Dilated third ventricle, Lateral ventricle dilatation, Cholelithiasi... ORPHA:464738
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity, Nasolacrimal duct... ORPHA:440727
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Upslante... OMIM:616211
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:86909
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Upslanted palpebral fissure, Epicanthus, Optic... ORPHA:401777
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Chorioretinitis, Iridocyclitis, Weight loss, Enlarged lacrima... OMIM:181000
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Chromosome 19Q13.11 Deletion Syndrome, Distal
Low-set ears, Short palpebral fissure, Sparse eyebrow, Growth delay, Failure to thrive, Bifid scr... OMIM:613026
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Bone Marrow Failure Syndrome 5
Hypogonadism, Short stature, Bilateral tonic-clonic seizure, Testicular atrophy, Growth delay OMIM:618165
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia, Sensorineural hearing impairment DECIPHER:46
Craniofacial-Deafness-Hand Syndrome
Downslanted palpebral fissures, Lacrimal duct atresia, Blepharophimosis, Sensorineural hearing im... ORPHA:1529
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Growth delay, Seizure, Infantile spasms, Tonic seizure, Bilater... OMIM:619428
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Hearing impairment, Abnormal earlobe morphology, Agenesis of corpus callosu... ORPHA:2556
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Seizure, Generalized non-motor (absence) seizure, Cerebellar vermis atrophy, ... OMIM:618170
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Growth delay, Seizure, Encephalocele, Ptos... OMIM:216360
Xq28 (MECP2) duplication
Motor stereotypy, Dysphagia, Macrotia DECIPHER:45
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Status ... OMIM:617665
Developmental And Epileptic Encephalopathy 111
Low-set ears, Convulsive status epilepticus, Hypoplasia of the pons, Long eyelashes, Infantile sp... OMIM:620504
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Smith-Magenis Syndrome
Abnormality of the outer ear, Head-banging, Hearing impairment, Abnormal middle ear morphology, O... OMIM:182290
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Age... OMIM:619244
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Orofaciodigital Syndrome Xvi
Low-set ears, Short palpebral fissure, Ptosis, Molar tooth sign on MRI OMIM:617563
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Postnatal growth retardation, Cryptorchidism, Agenesis of corpus callosum, Epicanth... OMIM:257300
Noonan Syndrome 14
Low-set ears, Sparse eyebrow, Lateral ventricle dilatation, Downslanted palpebral fissures, Crypt... OMIM:619745
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Hypoplasia of the brainstem, Megalocornea, Focal-onset s... OMIM:618354
Lopes-Maciel-Rodan Syndrome
Motor stereotypy, Bruxism, Dysphagia, Agitation OMIM:617435
Encephalocraniocutaneous Lipomatosis
Ventriculomegaly, Abnormal cartilage morphology, Retinopathy, Agenesis of corpus callosum, Abnorm... ORPHA:2396
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Joubert Syndrome 8
Ptosis, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Progressive hearing impairment, Decreased testi... OMIM:616113
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Microcornea, Cataract,... ORPHA:141099
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Hyperinsulinemic hypoglycemia, Generalized non-motor (absence) seizure... ORPHA:35878
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Agenesis of corpus callosum, A... ORPHA:990
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Chiari type I malformation, Bilateral tonic-clonic seizure, Short stat... OMIM:617836
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing impairment, Skin-pick... OMIM:600430
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... OMIM:617808
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Abnormal circulatin... ORPHA:90794
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Highly arched eyebrow, Hearing impairment, Hooded eyelid, Seizure, Long eyelashes, Thick eyebrow,... OMIM:610759
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Branchio-Oculo-Facial Syndrome
Cataract, Microcornea, Conductive hearing impairment, Low-set, posteriorly rotated ears, Upslante... ORPHA:1297
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine gr... ORPHA:2315
Foxg1 Syndrome
Bruxism, Paroxysmal bursts of laughter, Motor stereotypy, Stereotypical hand wringing ORPHA:561854
Liang-Wang Syndrome
Cerebellar atrophy, Generalized non-motor (absence) seizure, Downslanted palpebral fissures, Mega... OMIM:618729
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Vertigo, ... OMIM:613855
Mitochondrial Complex I Deficiency, Nuclear Type 21
Abnormal cerebellum morphology, Growth delay, Generalized non-motor (absence) seizure OMIM:618242
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Christianson Syndrome
Inappropriate laughter, Motor stereotypy, Dysphagia, Macrotia ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 22
Low-set ears, Highly arched eyebrow, Short palpebral fissure, Seizure, Generalized non-motor (abs... OMIM:612337
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Myoclonus, Bilateral tonic-cl... ORPHA:79139
Dravet Syndrome
Epilepsia partialis continua, Focal impaired awareness seizure, Febrile seizure (within the age r... ORPHA:33069
Retinitis Pigmentosa
Keratoconus, Posterior subcapsular cataract, Optic atrophy, Attenuation of retinal blood vessels,... ORPHA:791
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia ORPHA:391307
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Low-set ears, Dysgenesis of the cerebellar vermis, Lateral ventricle dilat... OMIM:619479
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Lacrimal duct stenosis, Sensorineural hearing impairment OMIM:609057
Autosomal Dominant Spastic Ataxia Type 1
Dysphagia, Jerky head movements ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Seizure, Failure to thrive, Abnormal female external genita... ORPHA:90790
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral tonic-cloni... OMIM:619338
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hearing impairment, Seizure, Vertigo, Abnormal brainstem morphology, Myoclonus, Aplasia/Hypoplasi... ORPHA:79279
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Myoectodermal Gonadal Dysgenesis Syndrome
Low-set ears, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebr... OMIM:618419
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Intrauterine growth retardation, Astigmatism, Upslanted ... ORPHA:363686
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Hearing impairment, Ocular albinism, Abnormal brainstem morpholo... ORPHA:2720
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Anteverted ears, Hy... ORPHA:544254
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Optic atrophy, Gastroesophageal reflux, Vomiting, Nasogastric... ORPHA:72
Neurooculorenal Syndrome
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Highly arched eyebrow, Central hypothy... OMIM:620305
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Corneal perforation, Abnormal medulla oblongata morphology, Seizure... ORPHA:68
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Seizure, Abnormal brainstem morphology, Intrauterine growth retardation, Myoc... OMIM:301310
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Generalized non-motor (absence) seizure, Hypogonadism, Epileptic spasm, Intrau... ORPHA:79351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Occipital encephalocele, Atresia of the external auditory canal, Megalocornea, Cryp... OMIM:236670
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Downslanted palpebral fissures, Generalized non-motor (absence) seizur... OMIM:615637
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Meckel Syndrome, Type 1
Low-set ears, Occipital encephalocele, Chiari malformation, Cryptorchidism, Agenesis of corpus ca... OMIM:249000
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... OMIM:618027
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Dilated third ventricle, Lateral ventricle dilatation, Long eyelashes, Tel... OMIM:620371
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Leopard Syndrome 1
Low-set ears, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Sensorineural hearing impai... OMIM:151100
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Kniest Dysplasia
Cataract, Vitreoretinopathy, Bilateral ptosis, Degenerative vitreoretinopathy, Retinal detachment... ORPHA:485
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Alkuraya-Kucinskas Syndrome
Low-set ears, Small scrotum, Cataract, Seizure, Hypoplasia of the brainstem, Cerebellar dysplasia... OMIM:617822
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Bardet-Biedl Syndrome
Hearing impairment, Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Polycystic ovari... ORPHA:110
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Abnormal midbrain morphology, Central hypothyroidism, Seizure, Increased ci... ORPHA:293987
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Small scrotum, Cerebellar vermis hypoplasia, Highly arched eyebrow, Lacrimal duct a... OMIM:618454
Craniopharyngioma
Growth delay, Hearing impairment, Increased circulating prolactin concentration, Seizure, Hypogon... ORPHA:54595
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons, Agenesis of corpus callosum OMIM:617542
Harel-Yoon Syndrome
Cerebellar atrophy, Generalized non-motor (absence) seizure, Upslanted palpebral fissure, Develop... OMIM:617183
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low-set ears, Highly arched eyebrow, Short palpebral fissure, Abnormality of the outer ear, Seizu... OMIM:617360
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Low-set ears, Short palpebral fissure, Ectopic thyroid, Growth delay, Failu... ORPHA:3047
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Sparse eyebrow, Macrotia, Encephalocele, Cryptorchidism, Cerebellar hypoplasia, Ambig... OMIM:616300
Warburg-Cinotti Syndrome
Symblepharon, Limbal stem cell deficiency, Corneal neovascularization, Epicanthus, Blepharophimos... OMIM:618175
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
2,4-Dienoyl-Coa Reductase Deficiency
Myoclonic absence seizure, Cerebellar atrophy, Failure to thrive, Seizure, Intrauterine growth re... OMIM:616034
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Highly arched eyebrow, Prominent antihelix, Failure to thrive, Seiz... OMIM:615802
Congenital Tufting Enteropathy
Cataract, Vomiting, Secretory diarrhea, Optic disc coloboma, Malabsorption, Punctate keratitis, A... ORPHA:92050
Neu-Laxova Syndrome
Cataract, Macrotia, Hypogonadism, Pterygium, External genital hypoplasia, Intrauterine growth ret... ORPHA:2671
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar cyst, Buphthalm... ORPHA:370997
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Long eyelashes, Tonic seizure, Anterior pituitary hypoplasia, Bilateral tonic-... OMIM:619983
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Downslanted palpebral fissure... ORPHA:2969
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... ORPHA:180229
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Hearing impairment OMIM:616351
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Megalocornea-Intellectual Disability Syndrome
Seizure, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Astigmatism, Senso... ORPHA:2479
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Lacrimoauriculodentodigital Syndrome 3
Lacrimal duct aplasia, Cupped ear, Hearing impairment, Absent lacrimal punctum, Absent eyelashes,... OMIM:620193
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Low-set ears, Cupped ear, Periorbital dermoid cyst, Lacrimal duct stenosis, Mixed hearing impairm... OMIM:615560
Beck-Fahrner Syndrome
Protruding ear, Lacrimal duct stenosis, Ptosis, Seizure OMIM:618798
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity, Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Myotonic Dystrophy 1
Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism OMIM:160900
Aicardi Syndrome
Cataract, Optic atrophy, Dilated third ventricle, Lateral ventricle dilatation, Sparse lateral ey... OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Hypoplasia of the pons, Cryptorchidism, Agenesis of corpus callosum, Sensorineural ... OMIM:619512
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Low-set ears, Cerebellar vermis hypoplasia, Cerebellar atrophy, Hearing impairment, Seizure, Down... OMIM:300966
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hearing impairment, Cryptorchidism, Chordee, Iris coloboma, Hypospadias, Posterior pituitary hypo... ORPHA:268261
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Compulsive behaviors,... OMIM:618430
Sanjad-Sakati Syndrome
Seizure, Low-set, posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Astigma... ORPHA:2323
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Obesity, Bilateral tonic-clonic seizure, Focal ... OMIM:619854
Gapo Syndrome
Keratoconus, Sparse eyebrow, Ventriculomegaly, Optic atrophy, Megalocornea, Retinal arteriolar to... OMIM:230740
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Cerebellar vermis hypoplasia, Hypoplasia of the iris, Upslanted palpebral f... OMIM:600092
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Dilated third ventricle, Lateral ventricle dilatation, Chronic constipation, Anteri... OMIM:619575
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Downslanted palpe... OMIM:617506
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Abnormality of the extraocular muscles, Nausea, Gast... ORPHA:298
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination ORPHA:397612
Neuhauser Syndrome
Cupped ear, Seizure, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Large ... OMIM:249310
Potocki-Lupski Syndrome
Motor stereotypy, Hearing impairment, Oral-pharyngeal dysphagia, Hyperactivity OMIM:610883
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Dilated third ventricle, Optic atrophy, Atrophy/Degeneration affecting the brainstem ORPHA:314404
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment ORPHA:238750
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Generalized non-motor (ab... ORPHA:293978
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Bilateral cryptorchidism, Retinal coloboma, Telecanthus, Dilated fourth ... ORPHA:434179
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Roifman-Chitayat Syndrome
Lacrimal duct stenosis, Ventriculomegaly, Optic atrophy OMIM:613328
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Abnormality of the outer ear, Seizure, Downslanted palpebral fissures, Decreased te... ORPHA:251028
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Gastroesophageal reflux, Cryptorchidism, Chronic const... ORPHA:500055
Satb2-Associated Syndrome Due To A Pathogenic Variant
Postnatal growth retardation, Typical absence seizure, Seizure, Growth delay ORPHA:576283
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hypoplasia of the pons, Hearing impairment, Epicanthus, Chordee, Atypical absence seizure, Cerebe... OMIM:620455
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Xq21 Microdeletion Syndrome
Dilatated internal auditory canal, Conductive hearing impairment, Seizure, Stapes ankylosis, Decr... ORPHA:1435
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Gastroesophageal reflux, Retinal degeneration ORPHA:542306
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Postnatal growth retardation, Cryptorchidism, Agenesis of corpu... OMIM:180849
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy, Macrotia OMIM:618004
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Intellectual Developmental Disorder, Autosomal Dominant 74
Intrauterine growth retardation, Typical absence seizure, Bilateral tonic-clonic seizure, Downsla... OMIM:620688
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Developmental And Epileptic Encephalopathy 103
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:619913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Hypoplasia of the brainstem, Cerebellar dysplasia, Encephalocele, Agene... OMIM:613150
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Orofaciodigital Syndrome Vi
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Failure to thrive, Age... OMIM:277170
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Asparagine Synthetase Deficiency
Ventriculomegaly, Dilated third ventricle, Gastroesophageal reflux, Hypoplasia of the pons, Hypop... OMIM:615574
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... OMIM:617751
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Generalized non-motor (absence) seizure, Telecanthus, Infantile spasms, Cryptorchidism, ... OMIM:620224
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Intrauterine growth retardation, Lacrimal duct stenosis, Cryptorchidism, Agene... OMIM:151050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Lacrimal duct atresia, Agenesis of corp... OMIM:300952
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Xerostomia, Hearing impairment, Decreased response to growth hormone stimulation ... OMIM:604292
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis ORPHA:1562
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Alagille Syndrome
Keratoconus, Failure to thrive, Downslanted palpebral fissures, Intrauterine growth retardation, ... ORPHA:52
3Mc Syndrome
Low-set ears, Highly arched eyebrow, Hearing impairment, Supernumerary nipple, Bilateral cryptorc... ORPHA:293843
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Anencephaly, Hydrocephal... OMIM:616546
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Gabriele-De Vries Syndrome
Low-set ears, Sparse eyebrow, Downslanted palpebral fissures, Decreased response to growth hormon... ORPHA:506358
Intellectual Developmental Disorder, X-Linked 98
Central hypothyroidism, Failure to thrive, Generalized non-motor (absence) seizure, Downslanted p... OMIM:300912
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Costello Syndrome
Keratoconus, Gastroesophageal reflux, Cryptorchidism, Epicanthus, Feeding difficulties in infancy... ORPHA:3071
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Intrauterine growth retardation, Hypoplasia of eyelid, Hypoplasia of t... OMIM:619321
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... ORPHA:1727
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Cri-Du-Chat Syndrome
Low-set ears, Hearing impairment, Stenosis of the external auditory canal, Oppositional defiant d... OMIM:123450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon, Conductive hearing impairment, Conjunctivitis, Atresia of the external auditory ... OMIM:106260
Branchiootic Syndrome 3
Lacrimal duct stenosis, Sensorineural hearing impairment OMIM:608389
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment, Nasolacrimal duct obstruction ORPHA:3218
Arima Syndrome
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem, Brainstem dysp... OMIM:243910
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Optic atrophy, Abnormal optic nerve morphology, Upslanted palpebral fissure, Retinopath... ORPHA:2526
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Typical absence seizure, Cerebellar atrophy, Seizure, Myoclonus, Focal-onset s... ORPHA:168491
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Neonatal death OMIM:245650
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Myoclonic seizure, Seizure, Hypogonadism, Generalized-onset seizure, External geni... OMIM:614231
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity... OMIM:619580
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Seizure, Generalized non-motor (absence) seizure, Focal myoclonic s... OMIM:619229
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... OMIM:615926
Short Syndrome
Severe short stature, Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morpholog... ORPHA:3163
Fraser Syndrome 1
Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Abnormal middle ear m... OMIM:219000
Alg9-Cdg
Low-set ears, Rhizomelia, Cerebellar atrophy, Seizure, Large fleshy ears, Low-set, posteriorly ro... ORPHA:79328
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Motor stereotypy, Bilateral conductive hearing impairment, Dysphagia OMIM:617802
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cryptorchidism, Agenesis of corpus callosum, Abnormal nasolacrimal system morphology, Absent eyeb... ORPHA:2273
Poikiloderma With Neutropenia
Sparse eyebrow, Sparse lateral eyebrow, Recurrent otitis media, Nasolacrimal duct obstruction, Co... OMIM:604173
Norrie Disease
Abnormal helix morphology, Uterine rupture, Cryptorchidism, Sensorineural hearing impairment, Cac... ORPHA:649
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Protuberant abdomen, Wide anterior fontanel, Abnormal cartilage morpho... ORPHA:2347
Atelis Syndrome 2
Short palpebral fissure, Gastroesophageal reflux, Dacryocystocele, Epicanthus, Vitreous hemorrhag... OMIM:620185
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... ORPHA:500159
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... OMIM:613174
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... OMIM:617796
Hartsfield Syndrome
Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Growth delay, Cryptorchidism... OMIM:615465
Bosma Arhinia Microphthalmia Syndrome
Cataract, Absent tragus, Conductive hearing impairment, Atresia of the external auditory canal, L... OMIM:603457
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Joubert Syndrome 5
Occipital encephalocele, Ptosis, Thickened superior cerebellar peduncle, Molar tooth sign on MRI,... OMIM:610188
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Dacryocystitis, Sparse eyebrow, Semilobar holoprosencephaly, Xerostomia, Conductive hearing impai... OMIM:129900
Early Infantile Epileptic Encephalopathy
Precocious puberty, Cerebellar atrophy, Failure to thrive, Generalized non-motor (absence) seizur... ORPHA:1934
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Orofaciodigital Syndrome Xiv
Low-set ears, Cerebellar vermis hypoplasia, Occipital encephalocele, Telecanthus, Cryptorchidism,... OMIM:615948
Developmental And Epileptic Encephalopathy 110
Low-set ears, Generalized non-motor (absence) seizure, Ptosis, Focal impaired awareness hemicloni... OMIM:620149
Neuroocular Syndrome 1
Hooded upper eyelid, Hypoplasia of the fovea, Lens coloboma, Brushfield spots, Iris coloboma, Cat... OMIM:619539
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Failure to thrive, Seizure, Abnormal brainstem morphology, Intrauterin... ORPHA:464311
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Rapp-Hodgkin Syndrome
Sparse eyebrow, Decreased number of sweat glands, Hearing impairment, Supernumerary nipple, Recur... OMIM:129400
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Bilateral tonic-clonic seizure OMIM:618832
Holoprosencephaly 9
Anterior pituitary agenesis, Alobar holoprosencephaly, Prominent antihelix, Seizure, Decreased re... OMIM:610829
Huntington Disease-Like 1
Restlessness, Abnormal head movements, Jerky head movements ORPHA:157941
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Intellectual Developmental Disorder, Autosomal Dominant 38
Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Myoclonic seizure, Generalized non-motor (absence) seizure, Progressive... OMIM:620166
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Jerky head movements ORPHA:240103
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Small earlobe, Sparse eyebrow, Abnormality of the Leydig cells, Cupped ear, Myoclon... ORPHA:3063
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Ptosis, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Snijders Blok-Campeau Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Prominent antihelix OMIM:617807
Limb-Mammary Syndrome
Sparse eyebrow, Absent nipple, Lacrimal duct atresia, Breast aplasia, Absent lacrimal punctum, Ap... ORPHA:69085
Weaver Syndrome
Lateral ventricle dilatation, Seizure, Generalized non-motor (absence) seizure, Downslanted palpe... OMIM:277590
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Generalized non-motor (ab... OMIM:616973
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Ectopic thymus tissue, Postnatal growth r... OMIM:113620
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention OMIM:619445
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Low-set ears, Cerebellar atrophy, Hearing impairment, Generalized non-motor (... ORPHA:369837
Athyreosis
Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Manitoba Oculotrichoanal Syndrome
Cryptophthalmos, Eyelid coloboma, Nasolacrimal duct obstruction, Vaginal atresia, Corneopalpebral... OMIM:248450
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... ORPHA:98755
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Annular pancreas, Central ... ORPHA:798
Duane Retraction Syndrome
Blepharospasm, Microcornea, Short palpebral fissure, Hearing impairment, Seizure, Chorioretinal c... ORPHA:233
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ... ORPHA:96181
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Abdominal distention, Enterocolitis, Constipation OMIM:142623
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Ptosis, Abdominal distention, Abdominal pain OMIM:277320
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Arboleda-Tham Syndrome
Low-set ears, Recurrent otitis media, Underdeveloped tragus, Epicanthus, Chronic otitis media, Sp... OMIM:616268
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Motor stereotypy, Abnormal antihelix morphology ORPHA:261144
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Hearing impairment ORPHA:101082
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Sensorineural hearing impairment, Ptosis, Primary amenorrhea, Testicular atrophy, Prema... OMIM:157640
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Downslanted palpebral fiss... OMIM:154500
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Aspergillosis
Dacryocystitis, Keratitis, Vitritis ORPHA:1163
Carpenter Syndrome 2
Low-set ears, Highly arched eyebrow, Sparse eyebrow, Generalized non-motor (absence) seizure, Sup... OMIM:614976
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Chronic otitis media ORPHA:10
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity ORPHA:530983
Saethre-Chotzen Syndrome
Low-set ears, Blepharospasm, Conductive hearing impairment, Hearing impairment, Seizure, Prominen... ORPHA:794
Gorham-Stout Disease
Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Deafness, Autosomal Dominant 9
Vertigo, Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration OMIM:601369
Transketolase Deficiency
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive... ORPHA:488618
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Encephalocele, Blepharophimo... ORPHA:3374
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Tolchin-Le Caignec Syndrome
Precocious puberty, Low-set ears, Short palpebral fissure, Abnormal vestibular function, Hooded e... OMIM:618971
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Aggressive behavi... OMIM:619312
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Chiari malformation, Postnatal growth retardation, Cryptorchidism, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Chiari malformation, Postnatal growth retardation, Cryptorchidism, Sensorineural he... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Gapo Syndrome
Keratoconus, Sparse eyebrow, Optic atrophy, Sparse eyelashes, Palpebral edema ORPHA:2067
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy OMIM:619725
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Atresia of the external auditory canal, Ep... OMIM:620186
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... ORPHA:52368
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clo... ORPHA:1942
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:610042
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Diarrhea, Decreased liver function, Cryptorchidism, Death in infancy, Neonatal death, A... OMIM:608104
Catel-Manzke Syndrome
Low-set ears, Seizure, Postnatal growth retardation, Intrauterine growth retardation, Thin eyebro... OMIM:616145
Kabuki Syndrome 1
Low-set ears, Anoperineal fistula, Lateral ventricle dilatation, Hearing impairment, Recurrent ot... OMIM:147920
Kniest Dysplasia
Cataract, Abnormal cartilage collagen, Retinal detachment OMIM:156550
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity disorder, M... OMIM:619103
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Motor stereotypy, Hyperactivity, Macrotia OMIM:300486
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Rauch-Steindl Syndrome
Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo... OMIM:619695
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Macrotia, Hypogonadism, External genital hypopla... ORPHA:2658
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620242
Bardet-Biedl Syndrome 1
Cataract, Hearing impairment, Abnormality of the ovary, Decreased testicular size, Hypogonadism, ... OMIM:209900
Ritscher-Schinzel Syndrome 4
Macrotia, Aggressive behavior, Dysphagia, Motor stereotypy, Impulsivity OMIM:619435
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... OMIM:619293
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Jerky head movements ORPHA:64280
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Intestinal pseudo-obstruction, Downslanted palpebral fissures, Feeding difficulties in ... OMIM:300048
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Cryptorchidism, Upslanted palpebral fissure, Protruding ear, Epicanthus, Ptosis, Na... OMIM:613458
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Dermatochalasis, Ventriculomegaly, Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, P... ORPHA:221139
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Motor stereotypy, Overfriendliness OMIM:616579
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Low-set ears, Myoclonic seizure, Cerebellar atrophy, Seizure, Generalized non-motor (absence) sei... OMIM:615398
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Cryptophthalmos, Long ey... OMIM:615877
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Lateral ventricle dilatation, Cryptorchidism, Epicanthus, Narrow palpebral fissure,... OMIM:615873
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention ORPHA:48686
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Woolly Hair
Cataract, Abnormal pupil morphology, Sparse lateral eyebrow ORPHA:170
Small Bowel Atresia
Vomiting, Feeding difficulties, Abdominal distention ORPHA:1201
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Protuberant abdomen, Abdominal distention OMIM:277300
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Achondrogenesis, Type Ib
Stillbirth, Abdominal distention OMIM:600972
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Nasolacrimal duct obstruction, Sparse eyelashes OMIM:224230
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Death in childhood, Death in infancy, Abdominal distention OMIM:619423
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Generalized non-motor (absence) seizure, Downslanted palpebral fiss... ORPHA:435638
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Spinocerebellar atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Kleefstra Syndrome 1
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... OMIM:610253
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Ptosis, Abdominal distention ORPHA:1876
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia ORPHA:79264
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Cerebellar hypoplasia, Absence seizure with eyelid myoclonia, Eyelid myoclonus, Generalized non-m... OMIM:613839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor... OMIM:620494
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis, Lacrimal duct atresia OMIM:603543
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Cryptorchidism, Agenesis of corpus callosum, Sensorineural hearing impairment, ... OMIM:194190
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Upslanted palpebral fissure, Aplasia/Hypoplasia o... ORPHA:2306
Rett Syndrome, Congenital Variant
Protruding ear, Bruxism, Tongue thrusting, Motor stereotypy OMIM:613454
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature, Seizure OMIM:300322
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg... OMIM:212066
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Death in infancy, Stillbirth OMIM:256050
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Folinic Acid-Responsive Seizures
Optic atrophy, Abdominal distention ORPHA:79097
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea, Gastrointestinal hemorrhage, Downslanted palpebral fissures, Epicanthus... OMIM:225400
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Agitation ORPHA:927
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Optic disc coloboma, Secretory diarrhea, Corneal erosion, Abdominal distention OMIM:270420
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Down Syndrome
Keratoconus, Cataract, Gastroesophageal reflux, Upslanted palpebral fissure, Chronic constipation... ORPHA:870
Arterial Tortuosity Syndrome
Keratoconus, Short palpebral fissure, Downslanted palpebral fissures, Astigmatism, Blepharophimosis OMIM:208050
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Low-set ears, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3... OMIM:301091
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Seizure, Bilateral tonic-clonic seizure with generalized onset, Bilateral ... ORPHA:98795
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Hypoperistalsis, Abdominal distention OMIM:619365
Scalp-Ear-Nipple Syndrome
Low-set ears, Lateral ventricle dilatation, Underdeveloped tragus, Epicanthus, Blepharophimosis, ... OMIM:181270
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Overfriendliness, Sensorineu... OMIM:616364
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Attention deficit hyperactivity disorder,... ORPHA:819
Adult Syndrome
Absent nipple, Breast hypoplasia, Hypoplastic nipples, Nasolacrimal duct obstruction, Conjunctivitis OMIM:103285
Ogden Syndrome
Low-set ears, Abnormal head movements, Macrotia ORPHA:276432
Alobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Seizure, Decreased response to growth hormone stimulat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Failure to thrive, Seizure, Decreased response to growth hormone stimulat... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Seizure, Decreased response to growth hormone stimulat... ORPHA:93924
Semilobar Holoprosencephaly
Central hypothyroidism, Failure to thrive, Seizure, Decreased response to growth hormone stimulat... ORPHA:220386
Neu-Laxova Syndrome 2
Ablepharon, Cataract, Ventriculomegaly, Protuberant abdomen OMIM:616038
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Abnormal cartilage matrix, Hypoplasia of the brainstem ORPHA:86822
Hereditary Fructose Intolerance
Cataract, Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Constipation, Abdominal distention... ORPHA:469
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Seizure, Abnormal brainstem MRI signal intensity ORPHA:88619
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:615656
Arterial Tortuosity Syndrome
Keratoconus, Short palpebral fissure, Gastroesophageal reflux, Esophagitis, Blepharophimosis, Ker... ORPHA:3342
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Sensor... ORPHA:457351
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Abnormality of the outer ear, Prominent antihelix, Conductive hearing impairment, Seizure, Genera... ORPHA:466943
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
Qazi-Markouizos Syndrome
Cryptorchidism, Chronic constipation, Abdominal distention ORPHA:3010
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Underfolded supe... OMIM:300352
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Focal impaired awareness seizure, Seizure, Infantile spasms, Genera... ORPHA:95232
Collagenoma, Familial Cutaneous
Sensorineural hearing impairment, Primary testicular failure, Iris atrophy OMIM:115250
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hearing impairment, Sensor... ORPHA:261197
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention ORPHA:226313
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Failure to thrive, Fusion of middle ear ossicles, Re... OMIM:157800
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
X-Linked Acrogigantism
Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio... ORPHA:300373
2Q37 Microdeletion Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear... ORPHA:1001
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Seizure ORPHA:231160
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology, Hearing impairment, Seizure, Conductive heari... ORPHA:2710
Phelan-Mcdermid Syndrome
Hearing impairment, Bruxism, Protruding ear, Aggressive behavior, Tongue thrusting, Motor stereot... OMIM:606232
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:619121
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocolitis, Con... ORPHA:95427
Wilson Disease
Sunflower cataract, Seizure, Kayser-Fleischer ring, Face of the giant panda sign, Hypoparathyroidism OMIM:277900
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Kinsship Syndrome
Low-set ears, Short palpebral fissure, Failure to thrive, Generalized non-motor (absence) seizure... OMIM:619297
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure,... OMIM:619835
Short Stature, Brussels Type
Calcification of cartilage ORPHA:2867
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distention, Abdominal pain ORPHA:100924
Tay-Sachs Disease
Precocious puberty, Typical absence seizure, Cerebellar atrophy, Seizure, Hearing impairment, Myo... ORPHA:845
Isolated Osteopoikilosis
Abnormality of the endocrine system, Dacryocystitis ORPHA:166119
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Hydroce... ORPHA:395
Fraser Syndrome
Small scrotum, Abnormality of the outer ear, Abnormal vagina morphology, Atresia of the external ... ORPHA:2052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone c... OMIM:201750
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Increased circulating prolactin concentration, Recurrent otitis media, Slender buil... ORPHA:3455
Peritoneal Cystic Mesothelioma
Abdominal pain, Peritonitis, Constipation, Abdominal distention ORPHA:168816
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Trisomy 9P
Protruding ear, Abnormal pupil morphology, Macrotia, Downslanted palpebral fissures ORPHA:236
Lafora Disease
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... ORPHA:501
Rett Syndrome
Bruxism, Motor stereotypy, Agitation, Stereotypical hand wringing ORPHA:778
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure, Hypoplasia of the brainstem, Upslanted palpebral fissure, Cereb... OMIM:618343
Adult Syndrome
Breast hypoplasia, Hypoplastic nipples, Absent nipple, Nasolacrimal duct obstruction ORPHA:978
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventriculomegaly, Hepatic failure, Downslanted palpebral fissures, Pancreatic lymphangiectasis, C... OMIM:235255
Congenital Fibrosis Of Extraocular Muscles
Cataract, Congenital fibrosis of extraocular muscles, Congenital sensorineural hearing impairment... ORPHA:45358
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Pontocerebellar atrophy, Decreased body weight,... ORPHA:258
Chylomicron Retention Disease
Diarrhea, Vomiting, Retinopathy, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
White-Sutton Syndrome
Self-injurious behavior, Abnormality of the outer ear, Sensorineural hearing impairment, Motor st... ORPHA:468678
Axenfeld-Rieger Syndrome, Type 3
Cerebellar vermis hypoplasia, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypo... OMIM:602482
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Motor stereotypy, Aggressive behavior ORPHA:457279
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hair-pulling, Protruding ear, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea ORPHA:75233
Treacher-Collins Syndrome
Blepharospasm, Cataract, Conductive hearing impairment, Downslanted palpebral fissures, Narrow in... ORPHA:861
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Kleefstra Syndrome
Self-injurious behavior, Hearing impairment, Self-mutilation, Aggressive behavior, Thickened heli... ORPHA:261494
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Hyperhidrosis, Seizure ORPHA:2151
Witteveen-Kolk Syndrome
Hearing impairment, Male urethral meatus stenosis, Type II diabetes mellitus, Glue ear, Sensorine... OMIM:613406
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Microtia, first degree, Downslanted palpebral fissures, Aplasia of the inner ear, Profound sensor... OMIM:610706
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Abdominal pain, Ovarian ne... ORPHA:83469
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Chiari malformation, Cryptorchidism, Agenesis of corpus callosum, Absent eyelashes,... OMIM:264090
Neonatal Marfan Syndrome
Low-set ears, Crumpled ear, Ectopia lentis, Megalocornea, Downslanted palpebral fissures, Decreas... ORPHA:284979
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Cerebellar atrophy, Failure to thrive, Generalized non-motor (absence)... ORPHA:404454
Malignant Peritoneal Mesothelioma
Abdominal pain, Peritonitis, Ileus, Abdominal distention ORPHA:168811
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hyperparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hor... ORPHA:534
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Eversion of lateral third of lower eyelids, Typical absence seizure, Conductive hearing impairmen... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Eversion of lateral third of lower eyelids, Typical absence seizure, Conductive hearing impairmen... ORPHA:352665
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Iris atrophy, Spherophaki... OMIM:601552
Multiple System Atrophy 1, Susceptibility To
Olivopontocerebellar atrophy, Iris atrophy, Hypohidrosis, Ptosis, Anhidrosis, Impotence OMIM:146500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Highly arched eyebrow, Supernumerary nipple, Obesity, Cryptorchidism, Epicanthus, N... OMIM:618653
Acrofrontofacionasal Dysostosis 1
Seizure, Long eyelashes, Iris atrophy, Ptosis, Short stature, Long eyebrows, Mixed hearing impair... OMIM:201180
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Liver Failure, Infantile, Transient
Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis... OMIM:613070
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hyperinsu... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hyperinsu... ORPHA:99228
Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hyperinsu... ORPHA:99226
Turner Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Hyperinsu... ORPHA:881
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Severe short stature, Low-set ears, Abnormal circulating calcium-phosphate regulating hormone con... ORPHA:2636
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Abdominal pain, Car... ORPHA:29207
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Cryptorchidism, Sensorineural hearing impairment, Micropenis, Rectovaginal ... OMIM:243800
Familial Dysautonomia
Seizure, Abnormal pupil morphology, Heterochromia iridis, Hypohidrosis, Hyperhidrosis, Corneal op... ORPHA:1764
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Cervicitis, Abnormal... ORPHA:722
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Lead Poisoning
Vomiting, Anorexia, Nausea, Constipation, Abdominal distention, Abdominal pain, Abdominal cramps,... ORPHA:330015
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Hypothyroidism, Impotence ORPHA:93256
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Malt Lymphoma
Posterior uveitis, Abnormality of the thyroid gland, Abnormal nasolacrimal system morphology, Wei... ORPHA:52417
Alternating Hemiplegia Of Childhood
Mydriasis, Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Thin eyebrow, Gas... ORPHA:2131
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyebrow, Ankyloblepharon, Conductive hearing impairment, Supernumerary nipple, Absent lacr... ORPHA:1071
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Hearing impairment, Abnormal ear morphology, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Decreased response to growt... OMIM:180500
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Abdominal distentio... ORPHA:391673
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:476126
Mowat-Wilson Syndrome
Cataract, Microcornea, Ventriculomegaly, Vomiting, Chorioretinal coloboma, Ectopia pupillae, Down... OMIM:235730
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Gastroesophageal reflux, Feeding difficulties, Abdominal distention OMIM:620275
Meckel Syndrome, Type 8
Abdominal distention OMIM:613885
Bainbridge-Ropers Syndrome
Low-set ears, Self-injurious behavior, Recurrent hand flapping, Motor stereotypy, Posteriorly rot... OMIM:615485
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Hearing impairment, Prominent antihelix, Obesity, Thick eyebrow, Epicant... ORPHA:466950
Norrie Disease
Cataract, Seizure, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineural hea... OMIM:310600
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... ORPHA:309031
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Motor stereotypy, Bilateral sensorineural hearing impairment, Sensorineural hearing... ORPHA:300570
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... ORPHA:96121
Developmental And Epileptic Encephalopathy 100
Short palpebral fissure, Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (wi... OMIM:619777
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Dysphagia, Macrotia ORPHA:496641
Nocardiosis
Vomiting, Keratitis, Chorioretinitis, Peritonitis, Anorexia, Conjunctivitis, Dacryocystitis ORPHA:31204
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy, Thickened helices, Cupped ear OMIM:610954
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Lateral ventricle dilatation, Ectopia pupillae, Recurrent otitis media, Enlarged cerebellum, Cryp... ORPHA:261552
Keutel Syndrome
Calcification of cartilage, Optic atrophy ORPHA:85202
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Episodic abdominal pain, Ptosis, Anorexia, Nausea ORPHA:100085
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... ORPHA:513456
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ectropion, Nausea and vomiting, Abdominal distention, Pterygium ORPHA:79403
Knobloch Syndrome 1
Myoclonic seizure, Occipital encephalocele, Cerebellar atrophy, Seizure, Band keratopathy, Horizo... OMIM:267750
Peripheral Primitive Neuroectodermal Tumor
Abdominal distention, Nausea and vomiting, Abnormal superior cerebellar peduncle morphology, Epis... ORPHA:370348
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventriculomegaly, Hepatic failure, Downslanted palpebral fissures, Pancreatic lymphangiectasis, C... ORPHA:1655
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Cerebellar vermis hypoplasia, Myoclonic seizure, Generalized non-motor (absence) s... OMIM:620330
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi... ORPHA:51890
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Corneal scarring, Recurrent corneal e... OMIM:256810
Hardikar Syndrome
Failure to thrive, Mild hearing impairment, Vertigo, Impaired growth-hormone response to glucagon... OMIM:301068
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Posteriorly rotated ears, Motor stereotypy, Microtia OMIM:301040
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Corneal opacity ORPHA:1830
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Upslanted palpebral fissure, Abdominal distention, Chronic dia... OMIM:620233
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short palpebral fissure, Typical absence seizure, Failure to thrive, Obesity, Intrauterine growth... OMIM:617157
Smith-Lemli-Opitz Syndrome
Cataract, Vomiting, Gastroesophageal reflux, Feeding difficulties, Cryptorchidism, Death in infan... OMIM:270400
Mirizzi Syndrome
Cholelithiasis, Vomiting, Abdominal colic, Anorexia, Abdominal pain, Gallbladder perforation, Abd... ORPHA:521219
Wiedemann-Steiner Syndrome
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Recurrent otitis media, Enlarged cerebellum, Cryptorchidism, Axenfe... ORPHA:261537
Van Esch-O'Driscoll Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Microtia OMIM:301030
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Cataract, Highly arched eyebrow, Short palpebral fissure, Failure to thrive, Seizur... OMIM:612474
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Thyroid Hemiagenesis
Hyperparathyroidism, Constipation, Abdominal distention ORPHA:95719
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment ORPHA:18
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Sparse eyebrow, Chiari malformation, Lateral ventricle dilatation, Generalized non-... ORPHA:500150
Igg4-Related Kidney Disease
Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Weight loss, Pancreatitis, Dacr... ORPHA:449395
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Proportionate short stature, Thickened ... OMIM:608328
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Microphthalmia, Syndromic 1
Low-set ears, Microcornea, Hearing impairment, Seizure, Chorioretinal coloboma, Recurrent otitis ... OMIM:309800
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Sotos Syndrome
Cerebellar vermis hypoplasia, Cataract, Focal impaired awareness seizure, Hearing impairment, Gen... ORPHA:821
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Diarrhea, Keratitis, Xerostomia, Oral-pharyngeal dysphagia, Abdominal d... ORPHA:95455
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Mowat-Wilson Syndrome
Recurrent otitis media, Enlarged cerebellum, Cryptorchidism, Axenfeld anomaly, Agenesis of corpus... ORPHA:2152
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Celiac Disease, Susceptibility To, 1
Vomiting, Diarrhea, Recurrent aphthous stomatitis, Abdominal distention, Steatorrhea, Abdominal p... OMIM:212750
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Cupped ear, Hearing impairment, Violent behavior, Bruxism, Otitis media, Pr... OMIM:619475
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Xanthelasma, Nausea ... ORPHA:275761
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Oppositional defiant disor... ORPHA:580
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Hearing impairment, Vertigo, Tinnitus, Abnormality of the ... ORPHA:297
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:93552
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C... ORPHA:177907
Developmental And Epileptic Encephalopathy 2
Motor stereotypy OMIM:300672
Thyroid Hypoplasia
Constipation, Thyroid hypoplasia, Abdominal distention ORPHA:95720
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Moderate Hemophilia A
Gastrointestinal hemorrhage, Cartilage destruction ORPHA:169805
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Abdominal distention OMIM:256300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Motor stereotypy, Posteriorly rotated ears, Aggressive behavior OMIM:301066
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting ORPHA:522077
Donohue Syndrome
Ovarian cyst, Abdominal distention OMIM:246200
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage, Esophagitis ORPHA:3348
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Epicanthus, Gastrointes... ORPHA:285
Pancreatoblastoma
Vomiting, Diarrhea, Pancreatic calcification, Abdominal distention, Abdominal pain ORPHA:677
Adult-Onset Still Disease
Abdominal pain, Cartilage destruction ORPHA:829
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia OMIM:607625
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abdominal distention, Abnormal salivary g... ORPHA:85443
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Neuroblastoma
Chronic diarrhea, Horner syndrome, Abdominal distention ORPHA:635
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Motor stereotypy, Dysphagia, Overfolded helix, Posteriorly rotated ears, Small earlobe OMIM:617330
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Thin ear helix, Low-set, posteriorly rotated ears, Bilateral sensorineur... ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation OMIM:619005
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention OMIM:619362
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Sensorineural hearing impairment, Tinnitus, Profound sensorineural hea... ORPHA:90658
Dyrk1A-Related Intellectual Disability Syndrome
Protruding ear, Motor stereotypy, Hyperactivity, Macrotia ORPHA:464306
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Cryptorchidism, Death in infancy, Abdominal distention, Hypoperistalsis ORPHA:2241
Leukocyte Adhesion Deficiency
Seizure, Vaginitis, Intrauterine growth retardation, Otitis media, Hyperinsulinemic hypoglycemia,... ORPHA:2968
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Keratoconus, Uterine rupture, Vertigo, Telecanthus, Cystocele... ORPHA:286
Saethre-Chotzen Syndrome
Prominent crus of helix, Abnormal nasolacrimal system morphology, Ptosis, Shallow orbits, Buphtha... OMIM:101400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Epicanthus, Abdominal di... ORPHA:93271
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Diarrhea, Pheochromocytoma, Prominent corneal nerve fibers, Constipat... ORPHA:653
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Neoplasm of the gallbladder, Bowel incontinence, Abdominal distention ORPHA:309271
Alkaptonuria
Calcification of cartilage, Corneal astigmatism, Black pigment gallstones, Cartilage destruction ORPHA:56
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Cupped ear, Hearing impairment, Protruding ear, Motor stereotypy, Hyperactivity, Po... OMIM:309590
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Short ear, Protruding ear, Aggressive behavior, Posteriorly rotated ears, Attention... OMIM:614756
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... ORPHA:353281
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abdominal distention ORPHA:309263
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy ORPHA:508533
Fanconi-Bickel Syndrome
Hepatic failure, Abdominal distention ORPHA:2088
Letterer-Siwe Disease
Stomatitis, Abdominal distention OMIM:246400
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Generalized non-motor (absence) seizure, Abnormal cerebellum morphology, Decrease... ORPHA:77293
Colonic Atresia
Abdominal distention ORPHA:1198
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Mydriasis, Abdominal distention OMIM:619351
Hereditary Spherocytosis
Abdominal pain, Cholelithiasis, Abdominal distention ORPHA:822
Primary Biliary Cholangitis
Hepatic failure, Xanthelasma, Gastrointestinal inflammation, Abdominal distention, Steatorrhea ORPHA:186
Meckel Syndrome 14
Protuberant abdomen, Abdominal distention OMIM:619879
Retinitis Pigmentosa 97
Iris atrophy OMIM:620422
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Hearing impairment ORPHA:508498
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Large earlobe, Sensorineural hearing impairment, Protruding ea... OMIM:619325
Gallbladder Neuroendocrine Tumor
Anorexia, Episodic abdominal pain, Nausea, Abdominal distention ORPHA:100086
Cirrhosis, Familial
Fulminant hepatitis, Abdominal distention OMIM:215600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Fanconi-Bickel Syndrome
Malabsorption, Poor appetite, Abdominal distention OMIM:227810
Ogden Syndrome
Low-set ears, Recurrent otitis media, Protruding ear, Dysphagia, Motor stereotypy, Macrotia OMIM:300855
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Castleman Disease
Abdominal pain, Nausea and vomiting, Intestinal obstruction, Abdominal distention ORPHA:160
Familial Visceral Myopathy
Hyperparathyroidism, Abdominal distention ORPHA:2604
Proteus Syndrome
Low-set ears, Cataract, Thymus hyperplasia, Seizure, Chorioretinal coloboma, Narrow internal audi... ORPHA:744
1P36 Deletion Syndrome
Self-injurious behavior, Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensor... ORPHA:1606
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Abdominal distention OMIM:214700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Multiple Osteochondromas
Dysphagia, Intestinal obstruction, Abnormal cartilage morphology ORPHA:321
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Absent eyebrow, Abnormal ductus choledochus morphology, Abdominal diste... ORPHA:436252
Idiopathic Hypereosinophilic Syndrome
Vomiting, Malabsorption, Colitis, Feeding difficulties in infancy, Abdominal distention, Abdomina... ORPHA:3260
Fraser Syndrome 2
Cryptophthalmos, Hypoplasia of the thymus, Abdominal distention OMIM:617666
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Overfolded helix, Posteriorly rotated ears, Motor stereotypy OMIM:301044
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Absent anterior chamber of the eye, Short stature, Focal impaired awarene... OMIM:259770
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Death in infancy, Abdominal distention OMIM:617156
Thyroid Ectopia
Lingual thyroid, Constipation, Abdominal distention, Dysphagia, Ectopic thyroid ORPHA:95712
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Posteriorly rotated ears, Attention deficit hyperactivity disorder, Dysphagia, Moto... OMIM:619522
Biliary, Renal, Neurologic, And Skeletal Syndrome
Gastroesophageal reflux, Lateral ventricle dilatation, Upslanted palpebral fissure, Neonatal deat... OMIM:619534
Hypothyroidism, Congenital, Nongoitrous, 2
Goiter, Feeding difficulties in infancy, Constipation, Abdominal distention, Thyroid hypoplasia, ... OMIM:218700
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Liver Disease, Severe Congenital
Dependency on parenteral nutrition, Hepatic failure, Vomiting, Diarrhea, Pancreatic hypoplasia, M... OMIM:619991
Primrose Syndrome
Self-injurious behavior, Hearing impairment, Aggressive behavior, Attention deficit hyperactivity... OMIM:259050
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention ORPHA:158684
Nmda Receptor Encephalitis
Motor stereotypy, Agitation, Hypersexuality ORPHA:217253
Viss Syndrome
Gastroesophageal reflux, Chronic gastritis, Chronic constipation, Long palpebral fissure, Ptosis,... OMIM:619472
Floating-Harbor Syndrome
Low-set ears, Conductive hearing impairment, Seizure, Cryptorchidism, Cochlear malformation ORPHA:2044
Currarino Syndrome
Gastrointestinal obstruction, Chronic constipation, Abdominal distention OMIM:176450
Pyknoachondrogenesis
Palpebral edema, Abdominal distention ORPHA:3003
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism OMIM:130050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention OMIM:271520
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy OMIM:309000
Kasabach-Merritt Phenomenon
Abdominal pain, Abdominal distention ORPHA:2330
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Calcification of cartilage, Progressive calcification of costochondral cartilage, Wide anterior f... OMIM:271665
Leprechaunism
Enlarged ovaries, Abdominal distention ORPHA:508
Atresia Of Urethra
Abdominal distention ORPHA:105
Multicystic Dysplastic Kidney
Cryptorchidism, Abdominal distention ORPHA:1851
Eisenmenger Syndrome
Abdominal distention ORPHA:97214

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 Otx1

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 Otx1.

No publications found that use IMPC mice or data for Otx1.

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MGI Allele Allele Type Produced
Otx1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Otx1tm209230(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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