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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
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Hypospadias, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating... ORPHA:163971
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, Epicanthus, Low-set, posteriorly r... ORPHA:261534
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... ORPHA:251623
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
49,Xyyyy Syndrome
Eunuchoid habitus, Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of... ORPHA:99330
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth r... ORPHA:453533
Lacrimoauriculodentodigital Syndrome
Xerostomia, Conductive hearing impairment, Abnormal salivary gland morphology, Increased corneal ... ORPHA:2363
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment, Highly arched eyebrow, Ptosis OMIM:618763
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Joubert Syndrome 10
Epicanthus, Cerebellar vermis hypoplasia, Low-set ears, Molar tooth sign on MRI, Downslanted palp... OMIM:300804
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Rhombencephalosynapsis,... ORPHA:280195
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia OMIM:180920
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Blue irides, La... OMIM:613266
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Streak ovary, ... ORPHA:2232
Gómez-López-Hernández Syndrome
Telecanthus, Cerebellar vermis hypoplasia, Corneal opacity, Abnormal cerebellum morphology, Hydro... ORPHA:1532
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Sensorineural hearing impairment, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Autosomal Recessive Spastic Paraplegia Type 26
Abnormal cerebellum morphology, Decreased serum testosterone concentration, Premature ovarian ins... ORPHA:101006
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Mixed hearing impairment, Absent lacrimal punctum, Absence of Stensen duc... OMIM:149730
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Abnormality of the ovary, Ptosis ORPHA:1875
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Epicanthus, Hypospadias, Abnormal pinna morpho... OMIM:614175
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Slc35A2-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrain morphology, Short stature, In... ORPHA:356961
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Cryptorchidism, Obesity, L... OMIM:619185
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Noonan Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Short stature, Aplasia of the s... ORPHA:648
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Low-set ears OMIM:617127
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Alacrima, Congenital, Autosomal Dominant
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia OMIM:103420
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Igg4-Related Ophthalmic Disease
Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Keratiti... ORPHA:449563
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Cerebellar vermis hypoplasia, Hypospadias, Corneal dystrophy, Corneal opacity, Hyp... ORPHA:495875
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia, Lacrimal duct atresia, Iris coloboma ORPHA:139450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Developmental cataract, P... OMIM:613154
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Myoclonus, At... ORPHA:2382
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Cataract, Small for gestational age, Abnormality iris morpholo... ORPHA:1617
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... ORPHA:101070
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Chorioretinal coloboma, Molar tooth sign on MRI, Age... OMIM:619111
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Telecanthus, Bilateral tonic-clonic seizure, Abnormal pinna morphology, Infantile... OMIM:615859
Joubert Syndrome 35
Telecanthus, Cerebellar vermis hypoplasia, Highly arched eyebrow, Synophrys, Low-set ears, Molar ... OMIM:618161
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, My... OMIM:619301
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Usher Syndrome Type 1
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction,... ORPHA:231169
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Epicanthus, Heterochromia iridis, Abnormality of the middle ear ossicles, Sever... ORPHA:90646
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Hearing impairment, Increased circu... ORPHA:243
Joubert Syndrome 3
Epicanthus, Cerebellar vermis hypoplasia, Highly arched eyebrow, Lateral ventricle dilatation, Lo... OMIM:608629
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive, Decre... OMIM:201100
Brittle Cornea Syndrome 1
Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Usher Syndrome Type 3
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ... ORPHA:231183
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Intestinal Dysmotility Syndrome
Projectile vomiting, Cataract, Abdominal distention, Diarrhea, Feeding difficulties, Decreased in... OMIM:620045
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Infantile spasms, Hypoplasia of the pons, Prominent ear helix, Synophrys, Generalize... ORPHA:411986
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Bilateral ptosis, Seizur... ORPHA:330050
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Abnormal brainstem morphology, Growth delay, Seizure, Long eyelashes, Long... ORPHA:411493
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Conductive hearing impairment, ... OMIM:303110
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Kid Syndrome
Cerebellar vermis hypoplasia, Sparse eyelashes, Postnatal growth retardation, Keratitis, Corneal ... ORPHA:477
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Increased serum testosterone level, Gonadal dysgenesis with ... ORPHA:206484
Joubert Syndrome 40
Molar tooth sign on MRI, Almond-shaped palpebral fissure OMIM:619582
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stat... ORPHA:110
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, An... OMIM:194072
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Short stature, Generalized non-motor (absence) seizure, Primary amenorrhea, Se... OMIM:616033
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Primary amenorrhea... OMIM:300510
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Nicolaides-Baraitser Syndrome
Epileptic spasm, Severe short stature, Highly arched eyebrow, Curly eyelashes, Cryptorchidism, Ge... ORPHA:3051
Joubert Syndrome 14
Encephalocele, Epicanthus, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Posterior... OMIM:614424
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... ORPHA:141083
Müllerian Aplasia And Hyperandrogenism
Short stature, Synophrys, Obesity, Primary amenorrhea, Protruding ear, Hypoplasia of the uterus, ... ORPHA:247768
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Xerostomia, Enlarged lacrimal glands, Abnormality of the orbital region, Enlarge... ORPHA:79078
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia OMIM:300624
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Bile duct pr... OMIM:610688
Joubert Syndrome 7
Encephalocele, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Ptosis OMIM:611560
Joubert Syndrome With Renal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Highly arched eye... ORPHA:220497
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Cupped ear, Upper eyeli... OMIM:167730
Joubert Syndrome 15
Molar tooth sign on MRI, Micropenis, Exencephaly, Ambiguous genitalia OMIM:614464
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration, Seizure ORPHA:3233
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Joubert Syndrome With Oculorenal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Highly arched eye... ORPHA:2318
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Keratoglobus, Astigmatism, Blepharo... OMIM:108145
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Cataract... ORPHA:370959
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Cataract, Abnormal midbrain morpho... ORPHA:444072
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Seizure, Hypopl... OMIM:608091
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Paroxysmal vertigo, Generalized non-moto... OMIM:607682
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology, Seizure, Failure to thrive, Agenes... ORPHA:255182
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:618067
Spastic Paraplegia 26, Autosomal Recessive
Posterior capsular cataract, Decreased serum testosterone concentration OMIM:609195
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Chromosome Xp11.23-P11.22 Duplication Syndrome
Medial flaring of the eyebrow, Posteriorly rotated ears, Precocious puberty, Synophrys, Generaliz... OMIM:300801
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Abnormality iris morphology, Growt... ORPHA:250999
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Joubert Syndrome 28
Molar tooth sign on MRI, Highly arched eyebrow OMIM:617121
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Bile duct ... OMIM:611134
Charge Syndrome
Bifid scrotum, Aqueductal stenosis, Eyelid coloboma, Hypoplasia of the semicircular canal, Holopr... ORPHA:138
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Rubinstein-Taybi Syndrome
Epicanthus, Telecanthus, Failure to thrive in infancy, Short stature, Highly arched eyebrow, Hear... ORPHA:783
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... OMIM:617565
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Joubert Syndrome With Ocular Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Highly arched eye... ORPHA:220493
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility OMIM:613909
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short stature, Decreased response to g... OMIM:619476
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Woolly Hair Nevus
Precocious puberty, Heterochromia iridis, Enlarged vestibular aqueduct, Persistent pupillary memb... ORPHA:79414
Crouzon Syndrome
Ptosis, Hydrocephalus, Chiari malformation, Conjunctivitis, Cerebellar hypoplasia, Conductive hea... ORPHA:207
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Absent lacrimal punctum, Cryptorchidism, Hypoplastic lacrimal duct, Upslanted palpebral fissure OMIM:273390
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or absent eyelash... ORPHA:3130
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Joubert Syndrome 18
Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp... OMIM:614815
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Igg4-Related Submandibular Gland Disease
Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morpho... ORPHA:449432
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys... ORPHA:251061
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Apert Syndrome
Hydrocephalus, Corneal erosion, Sensorineural hearing impairment, Abnormal semicircular canal mor... ORPHA:87
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Generalized non-motor (absence)... ORPHA:485350
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Coach Syndrome 3
Molar tooth sign on MRI, Ptosis OMIM:619113
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... OMIM:618141
Branchiootorenal Syndrome 1
Mixed hearing impairment, Lacrimal duct stenosis, Dilatated internal auditory canal, Hypoplasia o... OMIM:113650
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Hydrocepha... ORPHA:163961
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Bilateral tonic-clonic seiz... ORPHA:457240
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Epicanthus, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Generalized non-motor (abse... OMIM:616281
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Fontaine Progeroid Syndrome
Absent nipple, Small for gestational age, Small scrotum, Cerebellar vermis hypoplasia, Short stat... OMIM:612289
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Baraitser-Winter Syndrome 1
Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Cryptorchidism, S... OMIM:243310
Lacrimal Duct Defect
Dacryocystitis, Lacrimal duct atresia, Dacryocystocele, Conjunctivitis OMIM:149700
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormal brain... ORPHA:99852
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonic absence seizure, Downslanted palpebr... OMIM:619000
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Lissencephaly 9 With Complex Brainstem Malformation
Epicanthus, Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Infantil... OMIM:618325
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Cryptorchidism, Seizure, Status epilepticus, Focal impaired aware... OMIM:613970
Jacobsen Syndrome
Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Cryptorchidism, Hydrocephalus,... OMIM:147791
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Dandy-Walker malf... ORPHA:397715
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Hypoplasia... ORPHA:250972
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Wolfram Syndrome 1
Ptosis, Diabetes mellitus, Cataract, Diabetes insipidus, Sensorineural hearing impairment, Growth... OMIM:222300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... OMIM:202010
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizur... OMIM:617711
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Epicanthus, Cerebellar vermis hypoplasia, Short stature, Highl... ORPHA:2754
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Startle-induced seizure, Infantile spasms, Hypoplasia of the pons, ... ORPHA:467166
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized n... OMIM:619616
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Short stature, Atypical absence seizure, Myoclonic seizure OMIM:618596
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Dacryocystitis, Sensorineural hearing impair... ORPHA:464288
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Cryptorchidism, Feeding difficulties, Abnormal optic disc morphology, Decr... ORPHA:293967
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal... ORPHA:208447
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Bilateral tonic-clonic seizure with generalized ... ORPHA:2590
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Abnormal brainstem morphology, S... ORPHA:300573
Genitourinary And/Or Brain Malformation Syndrome
Protruding ear, Holoprosencephaly, Micropenis, Agenesis of corpus callosum, Clitoral hypertrophy,... OMIM:618820
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Protruding ear, Low-set ears, Intrauterin... ORPHA:73246
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Cataract, Bilateral tonic-clonic seizure, Precocious puberty, Myoclonic seizure,... OMIM:619877
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, White eyebrow, Cryptorchidism, Sensorineura... OMIM:609136
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... OMIM:614104
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Joubert Syndrome 1
Epicanthus, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Hig... OMIM:213300
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Microtriplication 11Q24.1
Keratoconus, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow ORPHA:289522
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Cryptorchidism, Clonic seizure... OMIM:618917
Volvulus Of Midgut
Telecanthus, Abdominal distention, Neonatal intestinal obstruction, Constipation, Long palpebral ... OMIM:193250
Perrault Syndrome 2
Sensorineural hearing impairment, Streak ovary, Amenorrhea OMIM:614926
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... ORPHA:206448
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Sarcoidosis
Cataract, Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Dacryocys... ORPHA:797
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormal pinna morphology, Hypogonadism, Hypoplastic nipples, Nasolacrimal duct obstruction OMIM:273400
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum, Low-set ears OMIM:607131
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormality of cartilage of external ... ORPHA:2399
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... OMIM:618342
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Cupped ear, Lacrimal duct atresia, Lacrimal duct aplasia, Microtia, Conj... OMIM:620192
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Lacrimal duct stenosis, Cryptorchid... ORPHA:457193
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi... ORPHA:352490
Distal Deletion 10Q
Epicanthus, Abnormal morphology of the vestibule of the inner ear, Short stature, Postnatal growt... ORPHA:96148
Intellectual Developmental Disorder, X-Linked 30
Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Generalized non-motor (absence) sei... OMIM:300558
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ventricle dilatation, Ast... OMIM:617296
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoc... OMIM:617810
Robinow Syndrome
Decreased serum testosterone concentration, Mixed hearing impairment, Small scrotum, Small for ge... ORPHA:97360
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Duplication Of The Pituitary Gland
Encephalocele, Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, ... ORPHA:314621
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Ramos-Arroyo Syndrome
Keratitis, Feeding difficulties in infancy, Dacryocystitis, Absent retinal pigment epithelium, Xe... ORPHA:1051
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sparse eyelashes, Bilateral cryptorchidism, Dysplastic corpus callosum, Absent ey... ORPHA:544488
Cerebellofaciodental Syndrome
Cataract, Short stature, Hypoplasia of the pons, Cryptorchidism, Sparse eyebrow, Cerebellar hypop... OMIM:616202
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow... OMIM:615476
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Nasolacrimal duct obstruction, Hearing impairment OMIM:614187
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Upslanted palpebral fissure, Hypoplasia o... OMIM:619306
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... OMIM:614736
Branchiootic Syndrome
Abnormal nasolacrimal system morphology, Sensorineural hearing impairment, Abnormality of the inn... ORPHA:52429
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Abnormal pinna morphology, Posteriorly rotated ears, Highly... ORPHA:228396
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Periventricular Nodular Heterotopia 7
Infantile spasms, Cryptorchidism, Sensorineural hearing impairment, Generalized non-motor (absenc... OMIM:617201
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... OMIM:617695
Marden-Walker Syndrome
Ptosis, Epicanthus, Hypospadias, Postnatal growth retardation, Cryptorchidism, Seizure, Hypoplasi... OMIM:248700
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Epileptic spasm, Highly arched eyebrow, Cryptorchidism, Synophrys, Obesity, ... ORPHA:96147
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Myoclonic-Atonic Epilepsy
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... OMIM:616421
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased... ORPHA:90354
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:619092
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse eyebrow, Developmental cataract, Microcornea, Lateral ventricle dilatation, Co... ORPHA:464738
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Epicanthus, Hypospadias, Tonic seizure, Cryptorchidism, Generalized non-motor (absence) seizure, ... OMIM:300260
Bone Marrow Failure Syndrome 5
Short stature, Bilateral tonic-clonic seizure, Growth delay, Hypogonadism, Testicular atrophy OMIM:618165
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal eyebrow morphology, Diabetes mellitus, Short stature, External genital hypoplasia, Abnor... ORPHA:3220
Anterior Segment Dysgenesis 3
Rieger anomaly, Cerebellar vermis hypoplasia, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld... OMIM:601631
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct... ORPHA:440727
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Sensorineural hearing im... OMIM:618170
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration, Seizure, Cerebellar ... ORPHA:79320
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Abn... ORPHA:107
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ... ORPHA:401777
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Silver-Russell Syndrome 3
Small for gestational age, Unilateral cryptorchidism, Short stature, Postnatal growth retardation... OMIM:616489
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia, Sensorineural hearing impairment DECIPHER:46
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
X-Linked Intellectual Disability Due To Gria3 Mutations
Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Uplifted earlobe, Cr... ORPHA:364028
Craniofacial-Deafness-Hand Syndrome
Blepharophimosis, Sensorineural hearing impairment, Lacrimal duct atresia, Downslanted palpebral ... ORPHA:1529
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Fasting hyperinsulinemia, Generalized non-motor (absence) seizure, Hyp... ORPHA:35878
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Hypospadias, Short stature, Sparse eyelashes, Blepharophimosis, Postnatal growth r... OMIM:613026
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Age... OMIM:619244
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Low-set ears, Short palpebral fissure, Ptosis OMIM:617563
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Enlarged lacrimal glands, Uveitis, Weight loss, Chorioretinitis, Abnormal salivary... OMIM:181000
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic seizure, Seizure, Status ... OMIM:617665
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clo... OMIM:619428
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Xq28 (MECP2) duplication
Macrotia, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Narro... ORPHA:990
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Houge-Janssens Syndrome 3
Epicanthus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Foca... OMIM:618354
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital... ORPHA:96181
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Cln3 Disease
Cerebellar atrophy, Cataract, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seiz... ORPHA:228346
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Bilateral tonic-clonic seizure, Chiari type I malformation, Generalized myoclonic ... OMIM:617836
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele, Ptosis OMIM:612291
Noonan Syndrome 14
Epicanthus, Short stature, Lacrimal duct stenosis, Posteriorly rotated ears, Sparse eyebrow, Cryp... OMIM:619745
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... ORPHA:141099
Warburg Micro Syndrome 3
Small scrotum, Cataract, Bilateral tonic-clonic seizure, Postnatal growth retardation, Hypoplasti... OMIM:614222
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, Onychotillomania, Abnorm... OMIM:182290
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... OMIM:600430
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Liang-Wang Syndrome
Cerebellar atrophy, Synophrys, Generalized non-motor (absence) seizure, Status epilepticus, Megal... OMIM:618729
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Cataract, Abnormal pinna morphology, Nasolacrimal duct obstruc... ORPHA:1297
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Epispadias, Abnormality of the... ORPHA:2556
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Intellectual Developmental Disorder, Autosomal Dominant 22
Epicanthus, Telecanthus, Short stature, Abnormal pinna morphology, Proportionate short stature, H... OMIM:612337
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Short stature, Hooded eyelid, Highly arched eyebrow, Hearing impairme... OMIM:610759
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Micropenis, Agenesis of corpus callosum, Dandy-Walker malformation, Hypospadias, S... OMIM:257300
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure OMIM:618242
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... ORPHA:2396
Christianson Syndrome
Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Rabson-Mendenhall Syndrome
Enlarged ovaries, Short stature, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes m... ORPHA:769
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Vertigo, Myoclonus, Atypical absence sei... OMIM:613855
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Sensorineural hearing impairment, Lacrimal duct stenosis OMIM:609057
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Japanese Encephalitis
Abnormal substantia nigra morphology, Bilateral tonic-clonic seizure, Abnormal midbrain morpholog... ORPHA:79139
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Hypoplasia of penis, Failure to thrive, Hypospadias, Short stature, Diab... ORPHA:2315
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor se... OMIM:619338
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Vertigo, Abnormal brainstem morphology, Seizure, Myoclonus, Aplasia/Hypoplasia of the cerebellum,... ORPHA:79279
Angelman Syndrome
Keratoconus, Ptosis, Optic disc pallor, Gastrostomy tube feeding in infancy, Optic atrophy, Feedi... ORPHA:72
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Posteriorly rotated ears, Lateral ventricle dilatation, Dysgenesis of the cerebellar... OMIM:619479
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Hearing impairment, Hydrocephalus, Ocular albinism, Abnormal brainstem morphology, Apla... ORPHA:2720
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Ambiguous genitalia, fe... OMIM:249000
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Myoectodermal Gonadal Dysgenesis Syndrome
Epicanthus, Small for gestational age, Short stature, Elevated circulating luteinizing hormone le... OMIM:618419
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ank... OMIM:106260
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Hypospadias, Hyperopic astigmatism, Generalized non-motor (absence) seizure, Upslante... ORPHA:363686
Intellectual Developmental Disorder, Autosomal Recessive 41
Downslanted palpebral fissures, Generalized-onset seizure, Bilateral tonic-clonic seizure, Genera... OMIM:615637
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Neurooculorenal Syndrome
Iris atrophy, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased circulating co... OMIM:620305
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Hypospadias, Anteverted ears, Eating-induced seizure, Macrotia, Myoclo... ORPHA:544254
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hypoplasia of the brainstem, Megalocornea, Agenesis of corpus callosum, ... OMIM:236670
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Short stature, Thick eyebrow, Highly arched eyebrow, Posteriorly rotated... OMIM:617360
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:79351
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Harel-Yoon Syndrome
Cerebellar atrophy, Corneal opacity, Generalized non-motor (absence) seizure, Developmental catar... OMIM:617183
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Seizure, Colpocephaly, Intrauterine growth retardation, Failur... OMIM:616034
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... ORPHA:2298
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft OMIM:617542
Leopard Syndrome 1
Epicanthus, Hypospadias, Short stature, Posteriorly rotated ears, Delayed menarche, Cryptorchidis... OMIM:151100
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe... ORPHA:3306
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Abnormal nasolacrimal system morphology, Posteriorly ro... ORPHA:3047
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Developmental Delay With Or Without Dysmorphic Facies And Autism
Epicanthus, Small scrotum, Cerebellar vermis hypoplasia, Short stature, Supernumerary nipple, Hig... OMIM:618454
Kniest Dysplasia
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... ORPHA:485
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Buphthalmos, Abnormal pons... ORPHA:370997
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Abnormal midbrain morphology, Decreased response to growth hormone stimulation tes... ORPHA:293987
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Ambiguous genitalia, Rhizomelia, Sparse eyebrow, Cryptorchidism, Cerebellar hypopl... OMIM:616300
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Warburg-Cinotti Syndrome
Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc... OMIM:618175
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Epicanthus, Short stature, Sensorineural hearing impairment, Protruding ear, Hypopl... ORPHA:2479
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Generalized non-motor (absence) seizure, Obesity, Focal impaired awareness seizure OMIM:616521
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Cataract, Hydrocephalus, Abnormality of the para... ORPHA:2969
Aicardi Syndrome
Retinal detachment, Cataract, Chorioretinal lacunae, Partial agenesis of the corpus callosum, Opt... OMIM:304050
Beck-Fahrner Syndrome
Ptosis, Seizure, Lacrimal duct stenosis, Protruding ear OMIM:618798
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obesity, Seizure, Focal ... OMIM:619854
Gapo Syndrome
Keratoconus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Retinal arteriolar tortuosity, Wide an... OMIM:230740
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Tonic seizure, Synophrys, Pituitar... OMIM:619983
Sanjad-Sakati Syndrome
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cornea... ORPHA:2323
Lacrimoauriculodentodigital Syndrome 3
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Cupped ear, Lacrimal duct aplasia, Microti... OMIM:620193
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Postnatal growth retardation, Synophrys, Nasola... OMIM:300966
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... OMIM:618430
Neu-Laxova Syndrome
Cataract, Abnormal nasolacrimal system morphology, External genital hypoplasia, Spina bifida, Abn... ORPHA:2671
Intellectual Developmental Disorder, Autosomal Dominant 53
Epicanthus, Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizu... OMIM:617798
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Lacrimal duct stenosis, Periorbital dermoid cyst, Cupped ear, Conjuncti... OMIM:615560
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypop... ORPHA:268261
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Cataract, Optic atrophy, Atrophy/Degeneration affecting the brainstem ORPHA:314404
Xq21 Microdeletion Syndrome
Stapes ankylosis, Abnormal chorioretinal morphology, Decreased response to growth hormone stimula... ORPHA:1435
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Synophrys, ... OMIM:619512
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Telecanthus, Bilateral cryptorchidism, Partial agenesis of the corpus c... ORPHA:434179
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment ORPHA:238750
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Highly arched eyebro... OMIM:615802
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... ORPHA:298
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Short stature, Lacrimal duct stenosis, Highly arched eyebrow, Posteriorly rotated ear... OMIM:617506
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Potocki-Lupski Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment OMIM:610883
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Severe short stature, Focal-onset s... OMIM:600092
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Hydrocephalus, Feeding difficulties, Hematochezia, Chronic constipation,... OMIM:619575
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Roifman-Chitayat Syndrome
Optic atrophy, Lacrimal duct stenosis, Ventriculomegaly OMIM:613328
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Satb2-Associated Syndrome Due To A Pathogenic Variant
Growth delay, Seizure, Typical absence seizure, Postnatal growth retardation ORPHA:576283
Congenital Tufting Enteropathy
Cataract, Abdominal distention, Corneal erosion, Chronic diarrhea, Secretory diarrhea, Optic disc... ORPHA:92050
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Postnatal growth retardation, Cryptorchidism, Dacryocystitis, Abnorm... ORPHA:251028
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Neuhauser Syndrome
Iridodonesis, Epicanthus, Short stature, Cupped ear, Hypoplasia of the iris, Seizure, Large flesh... OMIM:249310
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Gastroesophageal reflux, Retinal degeneration ORPHA:542306
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Orofaciodigital Syndrome Vi
Epicanthus, Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ears, Conductive hea... OMIM:277170
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Cryptorchidism, Hydrocephalus, Chronic diarrhea, Chronic constip... ORPHA:500055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cataract, Hydrocephalus, Partial absence of cerebellar vermis, Buphthalmos, Hypopl... OMIM:613150
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
3Mc Syndrome
Telecanthus, Abnormal pinna morphology, Supernumerary nipple, Highly arched eyebrow, Bilateral cr... ORPHA:293843
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Optic nerve hypoplasia, Hypoplasia of the pons, Feeding difficulties, H... OMIM:615574
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Papillary cystadenoma of the epididymis, Spina bif... OMIM:180849
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Sclerocornea, Lacrimal duct atresia, Lateral ventricle dilatation, Ag... OMIM:300952
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Generalized non-mo... OMIM:620224
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Low-set ea... OMIM:616546
Duane Retraction Syndrome
Ptosis, Central heterochromia, Blepharophimosis, External ear malformation, Sensorineural hearing... ORPHA:233
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Ma... OMIM:300912
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hypoplasia of eyelid, Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, I... OMIM:619321
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis ORPHA:1562
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:604292
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Alagille Syndrome
Keratoconus, Corneal dystrophy, Cryptorchidism, Abnormal pupil morphology, Spina bifida occulta, ... ORPHA:52
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Short stature, Lacrimal duct stenosis, Cryptorchidism... OMIM:151050
Gabriele-De Vries Syndrome
Telecanthus, Small for gestational age, Decreased response to growth hormone stimulation test, La... ORPHA:506358
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Costello Syndrome
Keratoconus, Epicanthus, Feeding difficulties in infancy, Cryptorchidism, Gastroesophageal reflux... ORPHA:3071
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure,... ORPHA:168491
Den Hoed-De Boer-Voisin Syndrome
Thick eyebrow, Posteriorly rotated ears, Generalized clonic seizure, Overweight, Focal-onset seiz... OMIM:619229
Branchiootic Syndrome 3
Sensorineural hearing impairment, Lacrimal duct stenosis OMIM:608389
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment, Nasolacrimal duct obstruction ORPHA:3218
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Chorioretinal ... ORPHA:2526
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Low-set ears, St... OMIM:123450
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... OMIM:619580
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Hec Syndrome
Communicating hydrocephalus, Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract ORPHA:2119
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Larsen-Like Syndrome, Lethal Type
Neonatal death, Abnormal cartilage matrix OMIM:245650
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Bilateral conductive hearing impairment, Low-set ears, Dysphagia OMIM:617802
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Low-set ears, Focal impaired awareness hemiclonic seizur... OMIM:620149
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Protuberant abd... ORPHA:2347
Short Syndrome
Posterior embryotoxon, Severe short stature, Corneal opacity, Diabetes mellitus, Telecanthus, Abn... ORPHA:3163
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Atelis Syndrome 2
Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Vitreous hemorrhage,... OMIM:620185
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... ORPHA:649
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Agenesis of corpus callosum, Absent eyebrow,... ORPHA:2273
Alg9-Cdg
Cerebellar atrophy, Low-set, posteriorly rotated ears, Telecanthus, Rhizomelia, Large fleshy ears... ORPHA:79328
Fraser Syndrome 1
Malformed lacrimal duct, Abnormal thymus morphology, Conductive hearing impairment, Micropenis, H... OMIM:219000
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Hartsfield Syndrome
Epicanthus, Hypospadias, Diabetes insipidus, Bilateral tonic-clonic seizure, Alobar holoprosencep... OMIM:615465
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Generalized-onset seizure, Bilater... OMIM:614231
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... OMIM:616393
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Telecanthus, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypo... OMIM:129900
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Telecanthus, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cry... OMIM:615948
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Poikiloderma With Neutropenia
Sparse eyebrow, Nasolacrimal duct obstruction, Conjunctivitis, Recurrent otitis media, Blephariti... OMIM:604173
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myocloni... OMIM:620166
Huntington Disease-Like 1
Abnormal head movements, Jerky head movements, Restlessness ORPHA:157941
Neuroocular Syndrome
Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove... OMIM:619539
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Short stature, Hypospadias, Thickened helices, Asymmetry of the ears, Sparse e... ORPHA:3063
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Bilateral Polymicrogyria
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... ORPHA:268940
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Hypospadias, Corneal opacity, Simple febrile seizure, Cryptorchidism, ... ORPHA:464311
Nail-Patella Syndrome
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure,... ORPHA:1934
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Absent tragus, Abnormal pinna morphology, C... OMIM:603457
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Short stature, Hypospadias, Supernumerary nipple, Sparse eyelashes, Spar... OMIM:129400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Abnormal repetitive mannerisms OMIM:617807
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, F... ORPHA:1942
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnormality of the ... ORPHA:3455
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Cerebellar atrophy, Bilateral tonic-clonic seizure, Hearing impairment, Preco... ORPHA:369837
Branchiooculofacial Syndrome
Conductive hearing impairment, Ectopic thymus tissue, Hypoplastic superior helix, Iris coloboma, ... OMIM:113620
Weaver Syndrome
Epicanthus, Bilateral tonic-clonic seizure, Cryptorchidism, Generalized non-motor (absence) seizu... OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Posteriorly rotated ears, Infantile spasms, Tonic seizure, Focal ... OMIM:616973
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Bilateral tonic-clonic seizure OMIM:618832
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Small earlobe, Agenesis of corpus callosum, Dandy-Walker malformation, ... OMIM:264090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Sensorineural hearing ... OMIM:157640
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears OMIM:618205
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Ptosis OMIM:277320
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Hearing impairment ORPHA:101082
Limb-Mammary Syndrome
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim... ORPHA:69085
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Anteverted ears, Conjunctivitis, Chronic otitis media, Small earlobe, S... OMIM:616268
Schinzel-Giedion Syndrome
Epileptic spasm, Streak ovary, Failure to thrive in infancy, Hypospadias, Abnormality of the stap... ORPHA:798
Saethre-Chotzen Syndrome
Ptosis, Epicanthus, Prominent crus of helix, External ear malformation, Sensorineural hearing imp... ORPHA:794
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Upper eyelid coloboma, Lower eyel... OMIM:154500
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Gorham-Stout Disease
Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Unilateral Ocular Duplication
Encephalocele, Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimo... ORPHA:3374
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A... OMIM:619103
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Large earlobe, Low-set ears, Dysphagia, Conductive hearing impa... OMIM:619312
Gapo Syndrome
Keratoconus, Palpebral edema, Sparse eyelashes, Sparse eyebrow, Optic atrophy ORPHA:2067
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Carpenter Syndrome 2
Epicanthus, Posteriorly rotated ears, Supernumerary nipple, Highly arched eyebrow, Bilateral cryp... OMIM:614976
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Bilateral tonic-clonic seizure, Sensorineural hearing impairment, Generalized non-... OMIM:614207
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Chiari type I malformation, Otitis media, Conductive hearing impairment, Abnormal lateral ventric... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Chiari type I malformation, Otitis media, Conductive hearing impairment, Abnormal lateral ventric... ORPHA:353277
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Severe sensorineural hearing impairment, Conductive hearing impairment, Hypothyroidism, Iris colo... OMIM:620186
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Hooded eyelid, Precocious puberty, Sensorineural hearing impairment... OMIM:618971
De Sanctis-Cacchione Syndrome
Severe short stature, Bilateral tonic-clonic seizure, Entropion, Bilateral cryptorchidism, Kerati... OMIM:278800
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Catel-Manzke Syndrome
Postnatal growth retardation, Cryptorchidism, Nasolacrimal duct obstruction, Upslanted palpebral ... OMIM:616145
48,Xxyy Syndrome
Chronic otitis media, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:10
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti... OMIM:619293
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Dysphagia, Macrotia, Abnormal repetitive mannerisms OMIM:619435
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Cerebellar atrophy, Bilateral tonic-clonic seizure, Large for gestational age, Generalized non-mo... OMIM:615398
Aspergillosis
Keratitis, Dacryocystitis, Vitritis ORPHA:1163
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Cryptorchidism, Vomiting, Decreased liver funct... OMIM:608104
Bardet-Biedl Syndrome 1
Cataract, Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, T... OMIM:209900
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Kniest Dysplasia
Abnormal cartilage collagen, Retinal detachment, Cataract OMIM:156550
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Chromosome 16P13.3 Duplication Syndrome
Epicanthus, Posteriorly rotated ears, Cryptorchidism, Synophrys, Nasolacrimal duct obstruction, O... OMIM:613458
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Abnorm... ORPHA:2658
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, D... OMIM:300048
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness OMIM:616579
Kabuki Syndrome 1
Premature thelarche, Protruding ear, Micropenis, Short stature, Highly arched eyebrow, Sparse eye... OMIM:147920
Thyroid Hemiagenesis
Abdominal distention, Constipation ORPHA:95719
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Lacrimal duct stenosis, Palpebral edema, Optic nerve hypoplasia, Dermatochalasis, Diarrhea, Gastr... ORPHA:221139
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Woolly Hair
Abnormal pupil morphology, Cataract, Sparse lateral eyebrow ORPHA:170
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen, Death in infancy OMIM:277300
Small Bowel Atresia
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E... OMIM:615873
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth OMIM:600972
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
3P25.3 Microdeletion Syndrome
Epicanthus, Bilateral tonic-clonic seizure, Blepharophimosis, Sensorineural hearing impairment, A... ORPHA:435638
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Death in infancy, Abdominal distention, Death in childhood OMIM:619423
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Dyskeratosis Congenita, Autosomal Recessive 1
Pterygium, Sparse eyelashes, Nasolacrimal duct obstruction OMIM:224230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Rhizomelia, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ect... OMIM:615877
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Conductiv... OMIM:201750
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Nasolacrimal duct obstruction, Vaginal atresia, Cryptophthalmos OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Retinal detachment, Microcornea, Downslante... OMIM:225400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Generalized non-motor (absence) seizure, Cerebellar hypopl... OMIM:613839
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Agenesis of corpus callosum, Iris coloboma, Hypospadias, Short sta... OMIM:194190
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... OMIM:212066
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Synophrys, Generalized non-motor ... OMIM:301091
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Lacunar halos around chondrocytes OMIM:256050
Wilson Disease
Hypoparathyroidism, Kayser-Fleischer ring, Seizure, Face of the giant panda sign OMIM:277900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Seizure, A... ORPHA:98795
Limb-Mammary Syndrome
Lacrimal duct atresia, Hypoplastic nipples, Hypohidrosis OMIM:603543
Lesch-Nyhan Syndrome
Seizure, Testicular atrophy, Short stature OMIM:300322
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Corneal erosion, Optic disc coloboma, Secretory diarrhea OMIM:270420
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Folinic Acid-Responsive Seizures
Abdominal distention, Optic atrophy ORPHA:79097
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissure OMIM:208050
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism, Protruding ear OMIM:613454
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... OMIM:616364
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms ORPHA:927
Adult Syndrome
Absent nipple, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Breast hypoplasia OMIM:103285
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Spinocerebellar atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis, Mydriasis OMIM:619365
Scalp-Ear-Nipple Syndrome
Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Small earlobe, Iris colob... OMIM:181270
Neu-Laxova Syndrome 2
Ablepharon, Ventriculomegaly, Cataract, Protuberant abdomen OMIM:616038
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Bilateral tonic-clonic seizure, Increased circulating androgen concentration, ... ORPHA:2976
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Hypoplasia of the brainstem, Partial agenesis of the corpus callosum, Abnormal cartilage matrix ORPHA:86822
Isotretinoin-Like Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Upslanted palpebral fissure, Anotia, Microtia... ORPHA:2306
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Conductive hearing impairment,... ORPHA:819
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:93924
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma... ORPHA:220386
Ogden Syndrome
Abnormal head movements, Macrotia, Low-set ears ORPHA:276432
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Highly arched eyebrow, Sensorineural hearing im... ORPHA:457351
Hereditary Fructose Intolerance
Cataract, Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic... ORPHA:469
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus, Gastroesophageal reflux, Esophagitis, Blepharophimosis, Short palpebra... ORPHA:3342
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Epicanthus, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Conductive hearing impairme... ORPHA:466943
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... OMIM:615656
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Seizure, Abnormal brainstem morphology ORPHA:88619
Lissencephaly Due To Lis1 Mutation
Cerebellar vermis hypoplasia, Infantile spasms, Focal motor seizure, Seizure, Focal impaired awar... ORPHA:95232
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen, Goiter ORPHA:226313
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man... OMIM:606232
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Cardiospondylocarpofacial Syndrome
Epicanthus, Telecanthus, Short stature, Posteriorly rotated ears, Congenital sensorineural hearin... OMIM:157800
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Underfolded superior helices, Attention deficit hyperactivity dis... OMIM:300352
Familial Cerebral Saccular Aneurysm
Seizure, Abnormal brainstem morphology ORPHA:231160
X-Linked Acrogigantism
Enlarged pituitary gland, Abnormal optic chiasm morphology, Elevated circulating growth hormone c... ORPHA:300373
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Ptosis ORPHA:1876
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus, Generalized non-motor (absenc... ORPHA:395
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Qazi-Markouizos Syndrome
Chronic constipation, Abdominal distention, Cryptorchidism ORPHA:3010
Oculodentodigital Dysplasia
Epicanthus, Cataract, External ear malformation, Conductive hearing impairment, Abnormality of th... ORPHA:2710
Fraser Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Hypospadias... ORPHA:2052
Kinsship Syndrome
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Synophrys, Generalized non-mo... OMIM:619297
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ... ORPHA:261197
3-Methylglutaconic Aciduria, Type Viia
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... OMIM:619835
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... OMIM:106210
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:1001
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... ORPHA:501
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea ORPHA:100924
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Isolated Osteopoikilosis
Abnormality of the endocrine system, Dacryocystitis ORPHA:166119
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Upslanted palpebral fissure, Seizure, Hypoplasia of the brainstem, Cereb... OMIM:618343
Trisomy 9P
Abnormal pupil morphology, Macrotia, Downslanted palpebral fissures, Protruding ear ORPHA:236
Short Stature, Brussels Type
Calcification of cartilage ORPHA:2867
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Collagenoma, Familial Cutaneous
Iris atrophy, Sensorineural hearing impairment, Primary testicular failure OMIM:115250
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Adult Syndrome
Hypoplastic nipples, Absent nipple, Nasolacrimal duct obstruction, Breast hypoplasia ORPHA:978
Tay-Sachs Disease
Cerebellar atrophy, Precocious puberty, Typical absence seizure, Seizure, Focal impaired awarenes... ORPHA:845
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Abdominal distention, Pancreatic lymphangiectasis, Cryptorchidism, Hepatic fail... OMIM:235255
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Focal-onset seizure, Generalized non-motor (absence) sei... ORPHA:258
Axenfeld-Rieger Syndrome, Type 3
Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia p... OMIM:602482
Treacher-Collins Syndrome
Encephalocele, Thyroid hypoplasia, Cataract, Absent eyelashes, Cryptorchidism, Blepharospasm, Eye... ORPHA:861
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Abnormal repetitive mannerisms, Low-set ears, Aggressive behavior ORPHA:457279
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen... ORPHA:468678
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Steatorrhea, Hepatic failure ORPHA:75233
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Levator palpebrae superioris atrophy, Congenital sensori... ORPHA:45358
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti... ORPHA:95427
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hypothyroidism, Typical absence seizure, Conductive hearing... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hypothyroidism, Typical absence seizure, Conductive hearing... ORPHA:352665
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Seizure, Abnormal pupil morphology, Hyperhidrosis ORPHA:2151
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Malignant Peritoneal Mesothelioma
Abdominal distention, Peritonitis, Ileus, Abdominal pain ORPHA:168811
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Small for gestational age, Infantile spasms, Lagophthalmos, Bilateral ptosis,... ORPHA:404454
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r... ORPHA:261494
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyperparathyroidism, Cataract, Short stature, Corneal opacity,... ORPHA:534
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Anhidrosis, Hypohidrosis, Impotence, Olivopontocerebellar atrophy, Ptosis OMIM:146500
Huntington Disease-Like 3
Abnormal head movements ORPHA:157946
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Severe short stature, Posteriorly rotated ears, Cryptorchidism, Loss of eyelashe... ORPHA:2636
Witteveen-Kolk Syndrome
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Protruding ear... OMIM:613406
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Overfolded heli... OMIM:618653
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Reactive Arthritis
Abdominal pain, Cartilage destruction, Diarrhea, Inflammation of the large intestine, Conjunctivi... ORPHA:29207
Liver Failure, Infantile, Transient
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... OMIM:613070
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Neonatal Marfan Syndrome
Iridodonesis, Small for gestational age, Ectopia lentis, Low-set ears, Crumpled ear, Megalocornea... ORPHA:284979
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Fragile X-Associated Tremor/Ataxia Syndrome
Hypothyroidism, Impotence, Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Mixed hearing impairment, Short stature, Long eyebrows, Seizure, Long eyelashes, S-... OMIM:201180
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Johanson-Blizzard Syndrome
Micropenis, Hypothyroidism, Hypospadias, Short stature, Septate vagina, Urethrovaginal fistula, C... OMIM:243800
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Malt Lymphoma
Abnormal nasolacrimal system morphology, Abnormality of the thyroid gland, Hyperhidrosis, Weight ... ORPHA:52417
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Obesity, Secondary amenorr... ORPHA:99413
Mosaic Monosomy X
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Obesity, Secondary amenorr... ORPHA:99228
Monosomy X
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Obesity, Secondary amenorr... ORPHA:99226
Turner Syndrome
Hashimoto thyroiditis, Premature ovarian insufficiency, Short stature, Obesity, Secondary amenorr... ORPHA:881
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyperhidrosis, Growth delay, Hypohid... ORPHA:1764
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Retinopathy ORPHA:71
Mowat-Wilson Syndrome
Broad eyebrow, Cataract, Supernumerary nipple, Abdominal distention, Cryptorchidism, Microcornea,... OMIM:235730
Lead Poisoning
Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Constipation, Vomiting, Abdominal cr... ORPHA:330015
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Absent lacrimal punctum, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Ankyloblepharon,... ORPHA:1071
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the middle ear, Abn... ORPHA:722
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Gastroesophageal reflux, Death in infancy, Feeding difficulties OMIM:620275
Meckel Syndrome, Type 8
Abdominal distention OMIM:613885
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Epicanthus, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile seizure, Typ... ORPHA:466950
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements ORPHA:247815
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma... OMIM:615485
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... OMIM:180500
Norrie Disease
Cataract, Corneal opacity, Sensorineural hearing impairment, Leukocoria, Hypoplasia of the iris, ... OMIM:310600
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,... ORPHA:96121
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Bilateral sensorineural hearing... ORPHA:300570
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Abnormal Eustachian tube... ORPHA:513456
Pitt-Hopkins Syndrome
Thickened helices, Self-injurious behavior, Cupped ear, Abnormal repetitive mannerisms OMIM:610954
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Macrotia, Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Abdominal distention, Episodic abdominal... ORPHA:370348
Spondyloepiphyseal Dysplasia Tarda
Retinal detachment, Abnormal cartilage morphology ORPHA:93284
Nocardiosis
Anorexia, Keratitis, Dacryocystitis, Peritonitis, Chorioretinitis, Conjunctivitis, Vomiting ORPHA:31204
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Abnormal pupil morphology, Chiari ... ORPHA:261552
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Adult-Onset Still Disease
Cartilage destruction, Abdominal pain ORPHA:829
Keutel Syndrome
Optic atrophy, Calcification of cartilage ORPHA:85202
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Pterygium, Ectropion ORPHA:79403
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Vomiting, Nausea, Abdominal pain ORPHA:90003
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Ptosis ORPHA:100085
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Lacrimal duct stenosis, Vertigo, Gro... OMIM:301068
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... OMIM:301040
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abdominal distention, Pancreatic lymphangiectasis, Cryptorchidism, Hepatic failure, Downslanted p... ORPHA:1655
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Corneal scarr... OMIM:256810
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Epicanthus, Telecanthus, Band keratopathy, Chorioret... OMIM:267750
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Epicanthus, Short stature, Focal-onset seizure, Typical absence seizure, Pseudohypoparathyroidism... OMIM:617157
Smith-Lemli-Opitz Syndrome
Death in infancy, Epicanthus, Cataract, Abdominal distention, Partial agenesis of the corpus call... OMIM:270400
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Corneal opacity ORPHA:1830
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Epicanthus, Cerebellar vermis hypoplasia, Small scrotum, Bilateral tonic-clonic seizure, Telecant... OMIM:620330
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Necrotizing Enterocolitis
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Gallbladder perforation, Vomitin... ORPHA:521219
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Chiari type I malformation, Webbed... ORPHA:261537
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Epicanthus, Cataract, Bilateral tonic-clonic seizure, Sutural cataract, Highly arched eyebrow, Sy... OMIM:612474
Van Esch-O'Driscoll Syndrome
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... OMIM:301030
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Upslanted palpebral fissure, Gastroesophageal reflux, Vom... OMIM:620233
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Short stature, Proportionate short stature, Lens luxation, Ectopia lentis... OMIM:608328
Familial Calcium Pyrophosphate Deposition
Calcification of cartilage ORPHA:1416
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Epicanthus, Generalized-onset seizure, Failure to thrive in infancy, Proporti... ORPHA:500150
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Nausea and vomiting, Epicanthus, Gastrointestinal dysmotility, Keratoconjunctivitis ... ORPHA:285
Celiac Disease, Susceptibility To, 1
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Steatorr... OMIM:212750
Microphthalmia, Syndromic 1
Ptosis, Abnormal pinna morphology, Cryptorchidism, Microcornea, Seizure, Ciliary body coloboma, L... OMIM:309800
Sotos Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Cataract, Bilateral tonic-clonic seizure, Phimosis, Cr... ORPHA:821
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Abnormal brainstem MRI signal intensity, Vertigo, Tinnitus... ORPHA:297
Mowat-Wilson Syndrome
Bifid scrotum, Cerebellar vermis hypoplasia, Uplifted earlobe, Conductive hearing impairment, Web... ORPHA:2152
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Anorexia, Oral-pharyngeal dysphagia, Keratitis, Abdominal distention, Corneal erosi... ORPHA:95455
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Head titubation, Repetitiv... OMIM:619475
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Thyroid Hypoplasia
Abdominal distention, Constipation, Thyroid hypoplasia ORPHA:95720
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Nephrotic Syndrome, Type 1
Abdominal distention, Gastroesophageal reflux OMIM:256300
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Moderate Hemophilia A
Cartilage destruction, Gastrointestinal hemorrhage ORPHA:169805
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:93552
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ... ORPHA:580
Donohue Syndrome
Abdominal distention, Ovarian cyst OMIM:246200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Abnormal repetitive mannerisms, Posteriorly rotated ears, Aggressive beha... OMIM:301066
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... ORPHA:90051
Hypotonia, Ataxia, And Delayed Development Syndrome
Posteriorly rotated ears, Overfolded helix, Low-set ears, Dysphagia, Small earlobe, Abnormal repe... OMIM:617330
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Tracheobronchopathia Osteochondroplastica
Esophagitis, Calcification of cartilage ORPHA:3348
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Dysphagia, Abnormal... ORPHA:85443
Igg4-Related Kidney Disease
Dacryocystitis, Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Pr... ORPHA:449395
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Self-injurious behavior, Thin ear helix, Bilateral sensorineur... ORPHA:468631
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Optic atrophy ORPHA:309256
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Leukocyte Adhesion Deficiency
Short stature, Nasolacrimal sac granuloma, Growth delay, Seizure, Conjunctivitis, Otitis media, H... ORPHA:2968
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Pancreatic calcification ORPHA:677
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Hypoperistalsis, Abdominal distention, Cryptorchidism ORPHA:2241
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Sensorineural hearing impairment, Anisocoria, Tinnitus, Profound senso... ORPHA:90658
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Protruding ear ORPHA:464306
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Hypospadias, Short stature, Epicanthus, Abno... ORPHA:286
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Prominent crus of helix, Buphthalmos, Shallow orbits, Pt... OMIM:101400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cupped ear, Protruding ear, Low-set ears, Abnormal repet... OMIM:309590
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Thyroid C cell hyperplasia, Abdominal distention, Diarrhea, Prima... ORPHA:653
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Cataract, Abdominal distention, Cryptorchidism, Dandy-Walker malformation, Agenesis o... ORPHA:93271
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Optic atrophy, Bowel incontinence, Neoplasm of the gallbladder ORPHA:309271
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention OMIM:619362
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Low-set ... OMIM:614756
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Optic atrophy ORPHA:309263
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Letterer-Siwe Disease
Stomatitis, Abdominal distention OMIM:246400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Abnormal cerebellum morphology, Gene... ORPHA:77293
Proteus Syndrome
Ptosis, Central heterochromia, Cataract, Thymus hyperplasia, Testicular neoplasm, Retinal hamarto... ORPHA:744
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis, Mydriasis OMIM:619351
Hereditary Spherocytosis
Abdominal distention, Cholelithiasis, Abdominal pain ORPHA:822
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Sensorineural hearing impairment, ... OMIM:619325
Colonic Atresia
Abdominal distention ORPHA:1198
Meckel Syndrome 14
Abdominal distention, Protuberant abdomen OMIM:619879
Gallbladder Neuroendocrine Tumor
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain ORPHA:100086
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Hearing impairment ORPHA:508498
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis OMIM:215600
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Ogden Syndrome
Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Macrotia, Abnormal repetitive ma... OMIM:300855
Multiple Osteochondromas
Intestinal obstruction, Abnormal cartilage morphology, Dysphagia ORPHA:321
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Abdominal distention, Bloody diarrhea, Hypoplasia of the thymus, Abnormal ductus ... ORPHA:436252
Fraser Syndrome 2
Abdominal distention, Hypoplasia of the thymus, Cryptophthalmos OMIM:617666
Alkaptonuria
Cartilage destruction, Calcification of cartilage ORPHA:56
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Polyphagia, Self-injurious b... ORPHA:1606
Familial Visceral Myopathy
Abdominal distention, Hyperparathyroidism ORPHA:2604
Castleman Disease
Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain ORPHA:160
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... ORPHA:91500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms, Overfolded helix, Posteriorly rotated ears OMIM:301044
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite OMIM:227810
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... ORPHA:3260
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Short stature, Focal impaired awareness seizure, Absent anterior chamber ... OMIM:259770
Primary Biliary Cholangitis
Abdominal distention, Hepatic failure, Gastrointestinal inflammation ORPHA:186
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Abdominal distention, Hepatic failure, Death in infancy OMIM:617156
Thyroid Ectopia
Abdominal distention, Constipation, Ectopic thyroid ORPHA:95712
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attention deficit hyperactivity diso... OMIM:619522
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Constipation, Ectopic thyroid, Thyroid hyp... OMIM:218700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Abdominal distention, Hydrocephalus, Upslante... OMIM:619534
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Liver Disease, Severe Congenital
Chronic gastritis, Epicanthus, Biliary hyperplasia, Abdominal distention, Diarrhea, Malnutrition,... OMIM:619991
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced... OMIM:259050
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting ORPHA:158684
Floating-Harbor Syndrome
Cryptorchidism, Cochlear malformation, Seizure, Low-set ears, Conductive hearing impairment ORPHA:2044
Nmda Receptor Encephalitis
Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Pyknoachondrogenesis
Abdominal distention, Palpebral edema ORPHA:3003
Viss Syndrome
Chronic gastritis, Retinal detachment, Ectropion, Abdominal distention, Chronic diarrhea, Feeding... OMIM:619472
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism OMIM:130050
Currarino Syndrome
Gastrointestinal obstruction, Chronic constipation, Abdominal distention OMIM:176450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention OMIM:271520
Kasabach-Merritt Syndrome
Abdominal distention, Abdominal pain ORPHA:2330
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Wide anterior fontanel, Calcification of cartilage, Progressive calcification of costochondral ca... OMIM:271665
Leprechaunism
Abdominal distention, Enlarged ovaries ORPHA:508
Atresia Of Urethra
Abdominal distention ORPHA:105
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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