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Gene: Otx1 MGI:97450

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
orthodenticle homeobox 1
Synonyms:
A730044F23Rik,  jv

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Otx1 mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Hypoplasia of the uterus, Decreased fert... ORPHA:572333
X-Linked Intellectual Disability, Van Esch Type
Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe... ORPHA:163976
X-Linked Intellectual Disability, Cilliers Type
Macrotia, Short stature, Absence of secondary sex characteristics, Decreased testicular size, Mal... ORPHA:163971
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Short stature, Small for gestational age, Decreased testicular size, Increased circ... OMIM:300869
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
49,Xxxyy Syndrome
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Epicanthus, E... ORPHA:261534
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... ORPHA:168563
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:179494
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... OMIM:273250
Lacrimoauriculodentodigital Syndrome
Conductive hearing impairment, Keratoconjunctivitis sicca, Abnormal lacrimal gland morphology, Cu... ORPHA:2363
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Congenital sensorineural hearing impairment, Primary amenorrhea, Hypoplasia of the ute... ORPHA:432
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Joubert Syndrome 36
Ptosis, Sensorineural hearing impairment, Molar tooth sign on MRI, Highly arched eyebrow OMIM:618763
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... OMIM:618086
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... ORPHA:90796
Isolated Congenital Alacrima
Conjunctivitis, Achalasia, Corneal erosion, Lacrimal punctal atresia, Lacrimal gland hypoplasia, ... ORPHA:91416
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:616030
Joubert Syndrome 10
Downslanted palpebral fissures, Molar tooth sign on MRI, Epicanthus, Low-set ears, Cerebellar ver... OMIM:300804
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus... ORPHA:280195
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Absent lacrimal punctum OMIM:180920
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Ocular albinism, White eyelashes, Aplasia of the semicircular c... OMIM:611584
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
47,Xyy Syndrome
Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Seizure, Abnormal brain... ORPHA:8
Waardenburg Syndrome, Type 4C
Sensorineural hearing impairment, Hypogonadism, White eyelashes, White eyebrow, Heterochromia iri... OMIM:613266
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, H... ORPHA:2232
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Abnormal brainstem morphology, Hydrocephalus, Corneal opacity, Lo... ORPHA:1532
Aarskog-Scott Syndrome
Downslanted palpebral fissures, Short stature, Shawl scrotum, Bilateral cryptorchidism, Large ear... OMIM:305400
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Sensorineural hearing impairment, Epicanthus, Iris cyst, Ptosis, Upslanted palpebral fissure OMIM:620086
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Decreased testicular size, Type I ... ORPHA:3044
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Epicanthus, Inc... ORPHA:1772
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Seizure, Epicanthus, Cerebellar hypoplasia, An... OMIM:614175
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Cataract, Abnormal cerebellum morphology, Decreased serum testos... ORPHA:101006
Perrault Syndrome 3
Sensorineural hearing impairment, Seizure, Short stature, Elevated circulating follicle stimulati... OMIM:614129
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... ORPHA:91348
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Lacrimoauriculodentodigital Syndrome 1
Conjunctivitis, Downslanted palpebral fissures, Hypoplastic lacrimal duct, Dacryocystitis, Absent... OMIM:149730
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Progressive hearing impairment, Short stature, Hypogonadism, Cerebellar h... OMIM:616113
Fraxe Intellectual Disability
Prominent ear helix, Recurrent hand flapping, Stereotypical body rocking, Compulsive behaviors ORPHA:100973
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Non-Functioning Pituitary Adenoma
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... ORPHA:91349
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Meningioma
Enlarged pituitary gland, Impotence, Focal-onset seizure, Decreased circulating cortisol level, B... ORPHA:2495
Noonan Syndrome
Downslanted palpebral fissures, Sensorineural hearing impairment, Short stature, Aplasia of the s... ORPHA:648
Joubert Syndrome 37
Molar tooth sign on MRI, Short stature, Decreased testicular size, Ptosis, Cryptorchidism, Low-se... OMIM:619185
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Ptosis, Cataract ORPHA:1875
Slc35A2-Cdg
Precocious puberty, Elevated circulating thyroid-stimulating hormone concentration, Sensorineural... ORPHA:356961
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Short stature, Small for gestational age, Premature ovarian insufficie... ORPHA:2959
Orofaciodigital Syndrome Xv
Low-set ears, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebellar vermis hypoplasia OMIM:617127
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Alacrima, Congenital, Autosomal Dominant
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia OMIM:103420
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormality of the orbital region, Abnormal morphology of ... ORPHA:449563
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Absent scrotum, Cerebellar hypoplasia, Absence of labia majora, Synophrys, Broad ... ORPHA:495875
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Seizure, Small for gestational age, Failure to thrive, Cataract, ... ORPHA:1617
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Focal-onset seizure, Status epilepticus, Focal hemiclonic seizure, Tonic seizur... OMIM:619606
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma, Lacrimal duct atresia, Microtia ORPHA:139450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dilated third ventricle, Ventriculomegaly, Optic atrophy, Lateral ventricle dilatation, Posterior... OMIM:613154
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... ORPHA:465508
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum, Cere... OMIM:619111
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Joubert Syndrome 30
Molar tooth sign on MRI, Ptosis, Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker ... OMIM:617622
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Developmental And Epileptic Encephalopathy 23
Synophrys, Myoclonus, Long eyelashes, Tonic seizure, Hypoplasia of the pons, Double eyebrow, Foca... OMIM:615859
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Synophrys, Ptosis, Low-set ears,... OMIM:618161
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame... ORPHA:243
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears OMIM:618147
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar dysplasia, Abnormal cerebellum morphology, Seizure, Typic... ORPHA:101070
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Short stature, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
Charge Syndrome
Hypothyroidism, Gonadotropin deficiency, Lop ear, Parathyroid hypoplasia, Holoprosencephaly, Iris... OMIM:214800
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... ORPHA:99429
Lennox-Gastaut Syndrome
Generalized tonic seizure, Abnormal brainstem morphology, Focal-onset seizure, Myoclonus, General... ORPHA:2382
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204000
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Epicanthus, Lateral ventricle di... OMIM:608629
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Brittle Cornea Syndrome 1
Keratoglobus, Epicanthus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus OMIM:229200
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Iris hypopigmentation, Ca... ORPHA:231169
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Epicanth... ORPHA:90646
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Hypogonadism, Decreased testicular size, Failure to thrive, Decreased serum testos... OMIM:201100
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Focal-onset seizure, Hypop... OMIM:619301
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... ORPHA:90795
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Focal-onset seizure, Hydro... OMIM:619302
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Projectile vomiting, Abdominal distention, Cataract,... OMIM:620045
Primary Dystonia, Dyt13 Type
Jerky head movements, Abnormal repetitive mannerisms ORPHA:98807
Joubert Syndrome 9
Molar tooth sign on MRI, Ventriculomegaly, Retinal dystrophy, Astigmatism, Cataract OMIM:612285
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Th... OMIM:609583
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Synophrys, Myoclonus, Long eyelashes, Large earlobe, Prominent ear hel... ORPHA:411986
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Pontocerebellar Hypoplasia Type 10
Seizure, Abnormal brainstem morphology, Long eyelashes, Long palpebral fissure, Growth delay, Hig... ORPHA:411493
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Focal hemiclonic seizure,... OMIM:300088
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Choroideremia, Progressive se... OMIM:303110
Bardet-Biedl Syndrome
Downslanted palpebral fissures, Medial flaring of the eyebrow, Hypogonadism, Short stature, Hypop... ORPHA:110
Kid Syndrome
Conjunctivitis, Sparse eyebrow, Hypohidrosis, Prelingual sensorineural hearing impairment, Cornea... ORPHA:477
Joubert Syndrome 40
Molar tooth sign on MRI, Almond-shaped palpebral fissure OMIM:619582
Usher Syndrome Type 3
Sensorineural hearing impairment, Iris hypopigmentation, Astigmatism, Cataract, Vestibular hypofu... ORPHA:231183
Dravet Syndrome
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... OMIM:607208
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Obesity, An... OMIM:194072
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Bilateral ptosis, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus... ORPHA:330050
Joubert Syndrome 6
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superio... OMIM:610688
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Short stature, Synophrys, Abnormality of the ovary, Thick eye... ORPHA:247768
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Short stature, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Primar... OMIM:616033
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... ORPHA:306
Joubert Syndrome 14
Meningocele, Downslanted palpebral fissures, Hypoplasia of the brainstem, Encephalocele, Molar to... OMIM:614424
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Focal motor status epilepticu... OMIM:620115
Nicolaides-Baraitser Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Seizure, Abnormal testis morphology, Ble... ORPHA:3051
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Joubert Syndrome 15
Ambiguous genitalia, Molar tooth sign on MRI, Micropenis OMIM:614464
Ravine Syndrome
Decreased body weight, Abnormal brainstem morphology, Abnormal auditory evoked potentials, Failur... ORPHA:99852
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the orbital region, Optic nerve compression, Nodular goiter, Keratoconjunctivitis ... ORPHA:79078
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Seizure, Hydrocephalus, Ptosis, Iris coloboma, Highly arc... ORPHA:220497
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Continuous Spikes And Waves During Sleep
Typical absence seizure, Seizure, Focal motor seizure, Focal-onset seizure, Focal aware seizure, ... ORPHA:725
Nasolacrimal Duct Cyst
Dacryocystitis, Poor suck, Narrow palpebral fissure, Chronic irritative conjunctivitis, Dacryocys... ORPHA:141083
Joubert Syndrome 7
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Ptosis OMIM:611560
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Upper eyel... OMIM:167730
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Cataract, Seizure, Progressive sensorineural hearing impairment ORPHA:3233
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism... OMIM:278850
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, S-shaped palpebral fissures, Hypoplasia of the brainstem, Infancy onset short-tru... ORPHA:444072
Joubert Syndrome With Oculorenal Defect
Encephalocele, Molar tooth sign on MRI, Hydrocephalus, Ptosis, Iris coloboma, Chorioretinal colob... ORPHA:2318
Joubert Syndrome 2
Hypoplasia of the brainstem, Encephalocele, Molar tooth sign on MRI, Elongated superior cerebella... OMIM:608091
Dermatitis, Atopic
Conjunctivitis, Cataract, Keratoconus OMIM:603165
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Downslanted palpebral fissures, Bilateral tonic-clonic seizure with focal onse... OMIM:618067
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,... OMIM:241080
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Mega... ORPHA:370959
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Blepharophimosis, Synophrys, Ptosis, Abnormal lacrimal duct morphology ORPHA:126
Chromosome Xp11.23-P11.22 Duplication Syndrome
Downslanted palpebral fissures, Precocious puberty, Medial flaring of the eyebrow, Generalized no... OMIM:300801
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Seizure, Abnormal cerebellum morphology, Abnormal brainstem morphology, Failure to thrive, Agenes... ORPHA:255182
Perrault Syndrome 6
Irregular menstruation, Sensorineural hearing impairment, Secondary amenorrhea, Premature ovarian... OMIM:617565
Spastic Paraplegia 26, Autosomal Recessive
Posterior capsular cataract, Decreased serum testosterone concentration OMIM:609195
Retinitis Pigmentosa
Optic atrophy, Abnormal testis morphology, Abnormality of retinal pigmentation, Cataract, Keratoc... ORPHA:791
1Q41Q42 Microdeletion Syndrome
Seizure, Short stature, Holoprosencephaly, Hypergonadotropic hypogonadism, Growth delay, Cryptorc... ORPHA:250999
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... OMIM:607682
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Arthrogryposis, Distal, Type 5
Keratoglobus, Retinal fold, Epicanthus, Blepharophimosis, Abnormality of retinal pigmentation, Pt... OMIM:108145
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Fragile X Syndrome
Recurrent hand flapping, Macrotia, Abnormal head movements OMIM:300624
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f... ORPHA:254516
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Bile duct prolif... OMIM:611134
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atonic... OMIM:618396
Joubert Syndrome With Ocular Defect
Encephalocele, Molar tooth sign on MRI, Seizure, Hydrocephalus, Ptosis, Iris coloboma, Highly arc... ORPHA:220493
Satoyoshi Syndrome
Sparse or absent eyelashes, Short stature, Abnormality of the ovary, Abnormality of the uterus, H... ORPHA:3130
Charge Syndrome
Epicanthus, Anterior hypopituitarism, Holoprosencephaly, Iris coloboma, Hearing impairment, Postn... ORPHA:138
Woolly Hair Nevus
Enlarged vestibular aqueduct, Precocious puberty, Persistent pupillary membrane, Heterochromia ir... ORPHA:79414
Joubert Syndrome 28
Highly arched eyebrow, Molar tooth sign on MRI OMIM:617121
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Upslanted palpebral fissure, Hypoplastic lacrimal duct, Absent lacrimal punctum, Cryptorchidism OMIM:273390
Rubinstein-Taybi Syndrome
Downslanted palpebral fissures, Seizure, Short stature, Epicanthus, Ptosis, Hearing impairment, H... ORPHA:783
Joubert Syndrome 18
Molar tooth sign on MRI, Arrhinencephaly, Occipital encephalocele, Agenesis of cerebellar vermis,... OMIM:614815
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Ambiguous genitalia, Conductive hearing impairment, Decreased circ... ORPHA:95699
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia OMIM:165600
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Sta... OMIM:615369
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Abnormality of the submandibular glands, Abnormal salivary... ORPHA:449432
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Molar tooth sign on MRI, Short stature, Ep... OMIM:619476
Crouzon Syndrome
Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Chiari malformatio... ORPHA:207
Hypertrichosis Cubiti
Downslanted palpebral fissures, Abnormal nasolacrimal system morphology, Abnormal eyelid morpholo... ORPHA:2220
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Spinocerebellar Ataxia 32
Cerebellar atrophy, Testicular atrophy, Infertility, Azoospermia OMIM:613909
Apert Syndrome
Morphological abnormality of the semicircular canal, Downslanted palpebral fissures, Conductive h... ORPHA:87
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Failure to thriv... OMIM:620145
Developmental And Epileptic Encephalopathy 13
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... OMIM:614558
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure, Atonic seizure, ... OMIM:616056
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Coach Syndrome 3
Ptosis, Molar tooth sign on MRI OMIM:619113
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic-clonic se... OMIM:618141
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Macrotia, Precocious puberty, Bilateral tonic-clonic seizure, Cataract, Upslan... OMIM:619877
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Hydrocephalus, Dandy-Walker malformation, Chorioretinal coloboma, ... ORPHA:163961
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Generalized non-motor (absence) seizure, Epicanthus, Failure to thrive, Bilateral tonic-... OMIM:616281
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Clcn4-Related X-Linked Intellectual Disability Syndrome
Seizure, Myoclonus, Focal tonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness... ORPHA:485350
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Seizure, Short stature, Epicanthus, Agenesis of corpus callosum... OMIM:243310
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Seizure, Status epilepticus, Bilateral tonic-clonic seizure, Focal impaired aware... OMIM:613970
Branchiootorenal Syndrome 1
Lacrimal duct stenosis, Conductive hearing impairment, Sensorineural hearing impairment, Incomple... OMIM:113650
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Adult Krabbe Disease
Erectile dysfunction, Abnormal midbrain morphology, Prolonged brainstem auditory evoked potential... ORPHA:206448
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Polyembryoma
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... ORPHA:180229
Lacrimal Duct Defect
Conjunctivitis, Dacryocystocele, Lacrimal duct atresia, Dacryocystitis OMIM:149700
Fontaine Progeroid Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Conductive hearing impairment, Short sta... OMIM:612289
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Dacryocystitis, Sensorineural hearing impairment, Seizure, Abnormality of the endocrine system, P... ORPHA:464288
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Molar tooth sign on MRI, Seizure, Epicanthus, Short stature, Bilat... ORPHA:2754
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (abse... OMIM:618357
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Lateral ventricle dilatation, Epicanthus, Supernumerary nipple, Abnormal cerebellum ... ORPHA:397715
Tubulinopathy-Associated Dysgyria
Abnormal brainstem morphology, Bilateral ptosis, Hypoplasia of the pons, Startle-induced seizure,... ORPHA:467166
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Seizure, Testicular atrophy... OMIM:222300
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Seizure, Short ... OMIM:618325
Gangliocytoma
Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Abnormal cerebellum morphology, Abn... ORPHA:251937
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Decreased response to growth hormone stimulation test, Macrotia, Seizure, S... ORPHA:457240
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Downslanted palpebral fissures, Seizure, Focal-onset seizure, Bilateral tonic-... OMIM:619616
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic seizure, Atypical absence seizure, Myoclonic absence seizure, Short stature OMIM:618596
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Seizure, Bilateral tonic-clonic seizure, Infantile spasms, Dysplasti... ORPHA:250972
Jacobsen Syndrome
Low-set ears, Epicanthus, Labial hypoplasia, Hydrocephalus, Intrauterine growth retardation, Clit... OMIM:147791
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Decreased testicular size, Abnormal optic disc morphology,... ORPHA:293967
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Focal motor seizure, Short stature, Status epilepticus, Tonic seizure... OMIM:617711
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Sensorineural hearing impairment, Seizure, Typical absence seizure, Eyelid myoclo... ORPHA:2590
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Downslanted palpebral fissures, Lacrimal duct stenosis, Sparse eyebrow, Ptosis, Cryptorchidism, L... ORPHA:73246
Lissencephaly 10
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... OMIM:618873
Polymicrogyria Due To Tubb2B Mutation
Seizure, Abnormal brainstem morphology, Lateral ventricle dilatation, Focal-onset seizure, Hypopl... ORPHA:300573
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal ... OMIM:617831
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment,... OMIM:274600
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor sym... OMIM:619317
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Landau-Kleffner Syndrome
Generalized clonic seizure, Seizure, Focal motor seizure, Non-convulsive status epilepticus witho... ORPHA:98818
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Epicanthus, Holoprosencephaly, Uterus didelphys, Short palpebral fissure, Ab... OMIM:618820
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Perrault Syndrome 2
Streak ovary, Sensorineural hearing impairment, Amenorrhea OMIM:614926
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Downslanted palpebral fissures, Bilateral tonic-clonic seizure, Myoclonic abse... OMIM:619000
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Clonic seizur... OMIM:618917
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Status epilepticus, Morning myoclonic jerks, Generalized non-moto... OMIM:254770
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Nasolacrimal duct obstruction, Hypoplastic nipples, Abnormal pinna morphology, Hypogonadism OMIM:273400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Myoclonus, Generalized myoclonic-atonic seizure, Bilateral... OMIM:618587
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Vomiting, Diarrhea, Abdominal distention ORPHA:35122
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis, Sensorineural hearing impairment, Seizure, White eyelashes, Absent brainstem audito... OMIM:609136
Sarcoidosis
Hypothyroidism, Diabetes insipidus, Abnormal conjunctiva morphology, Hyperthyroidism, Dacryocysti... ORPHA:797
Hypotonia-Cystinuria Syndrome
Macrotia, Decreased response to growth hormone stimulation test, Seizure, Long eyelashes, Failure... OMIM:606407
Al-Gazali-Bakalinova Syndrome
Low-set ears, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Microtriplication 11Q24.1
Synophrys, Long eyelashes, Upslanted palpebral fissure, Keratoconus, Thick eyebrow ORPHA:289522
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Abnormality of cartilage of externa... ORPHA:2399
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Seizure, Increased circulating ACTH lev... ORPHA:90790
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 1
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Molar tooth sign on MRI, Elongated su... OMIM:213300
Rere-Related Neurodevelopmental Syndrome
Seizure, Epicanthus, Blepharophimosis, Broad eyebrow, Intrauterine growth retardation, Ptosis, Hy... ORPHA:494344
Volvulus Of Midgut
Neonatal intestinal obstruction, Long palpebral fissure, Abdominal distention, Constipation, Tele... OMIM:193250
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Testicular atrophy, Erectile dysfunction ORPHA:481
Developmental And Epileptic Encephalopathy 57
Seizure, Generalized myoclonic seizure, Tonic seizure, Epileptic spasm, Atypical absence seizure OMIM:617771
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:616172
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Lacrimal duct stenosis, Seizure, Short stature, Epicanthus, Ptosis, Growth delay, Cryptorchidism,... ORPHA:457193
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventriculomegaly, Death in infancy, Cataract, Cryptorchidism, Optic disc pallor OMIM:613730
Developmental And Epileptic Encephalopathy 24
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... OMIM:615871
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:352490
Trehalase Deficiency
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:103909
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping OMIM:620021
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Epileptic spasm OMIM:616409
Duplication Of The Pituitary Gland
Encephalocele, Decreased body weight, Short stature, Abnormal midbrain morphology, Abnormality of... ORPHA:314621
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Infantile spasms, Atypical abs... OMIM:617113
Mccune-Albright Syndrome
Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco... ORPHA:562
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Bilateral tonic-clonic seizure, Atonic seizure, Generali... OMIM:614018
Intellectual Developmental Disorder, X-Linked 30
Macrotia, Seizure, Short stature, Hydrocephalus, Bilateral tonic-clonic seizure, Upslanted palpeb... OMIM:300558
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal nasolacrimal system morphology, Abnormal eyebrow morphology, Abnormal eyelid morphology,... ORPHA:3220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Optic nerve dysplasia, Dilated third ventricle, Lateral ventricle dilatation, Astigmatism, Partia... OMIM:617296
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... ORPHA:98754
Ramos-Arroyo Syndrome
Dacryocystitis, Choriocapillaris atrophy, Feeding difficulties in infancy, Chronic constipation, ... ORPHA:1051
Distal Monosomy 10Q
Downslanted palpebral fissures, Seizure, Lateral ventricle dilatation, Epicanthus, Cerebellar hyp... ORPHA:96148
Robinow Syndrome
Short stature, Small for gestational age, External genital hypoplasia, Webbed penis, Hypoplastic ... ORPHA:97360
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Cerebellar hypoplasia, Bilateral tonic-clonic seizure, Atonic seizure, Cerebel... OMIM:617810
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Developmental And Epileptic Encephalopathy 18
Bilateral tonic-clonic seizure with focal onset, Downslanted palpebral fissures, Generalized-onse... OMIM:615476
Branchiootic Syndrome
Abnormal nasolacrimal system morphology, Conductive hearing impairment, Sensorineural hearing imp... ORPHA:52429
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Focal-o... ORPHA:36387
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Absent eyelashes, Ptosis, Abnormal pinna morphology, Thick eyebrow, High... ORPHA:228396
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Seizure, Increased circulating ACTH level, Decreased circulating cortisol lev... OMIM:614736
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Nasolacrimal duct obstruction, Hearing impairment OMIM:614187
Marden-Walker Syndrome
Hypoplasia of the brainstem, Seizure, Epicanthus, Blepharophimosis, Cerebellar hypoplasia, Inferi... OMIM:248700
Cerebellofaciodental Syndrome
Sparse eyebrow, Short stature, Cerebellar hypoplasia, Hypoplasia of the midbrain, Hypoplasia of t... OMIM:616202
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the brainstem, Molar tooth sign on MRI, Cerebellar hypopl... OMIM:619306
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Downslanted palpebral fissures, Sparse eyebrow, Dilated third ventricle, Bilateral ptosis, Latera... ORPHA:544488
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Status epilepti... OMIM:615744
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Periventricular Nodular Heterotopia 7
Sensorineural hearing impairment, Seizure, Failure to thrive, Cryptorchidism, Infantile spasms, G... OMIM:617201
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic 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
Silver-Russell Syndrome 3
Ambiguous genitalia, Decreased body weight, Short stature, Small for gestational age, Antecubital... OMIM:616489
Brittle Cornea Syndrome
Keratoglobus, Corneal erosion, Corneal scarring, Retinal detachment, Decreased corneal thickness,... ORPHA:90354
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Atonic seizure, Genera... OMIM:616421
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-... OMIM:619157
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... ORPHA:98793
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Status ... ORPHA:307
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Ex... ORPHA:107
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia, Sensorineural hearing impairment DECIPHER:46
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Abnormal testis morphology, Synophrys, Agenesis of corpus callosum, Hypoplasia of penis,... ORPHA:96147
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebellar vermis atrophy, Sensorineural hearing impairment, Seizure, Ptosis, Bilateral tonic-clo... OMIM:618170
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyebrow, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613026
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Cereb... OMIM:271980
Jeavons Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Generalized tonic ... ORPHA:139431
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... ORPHA:177904
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Weight loss, Increased circulating ... ORPHA:1501
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... ORPHA:361
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Nasolacrimal duct obstruction, Retinal vascular tortuosity, Abnormal optic disc morphology, Vitre... ORPHA:440727
Basel-Vanagaite-Smirin-Yosef Syndrome
Downslanted palpebral fissures, Sparse eyebrow, Dilated third ventricle, Lateral ventricle dilata... ORPHA:464738
Alg6-Cdg
Seizure, Cerebellar hypoplasia, Puberty and gonadal disorders, Failure to thrive, Low-set ears, I... ORPHA:79320
Craniofacial-Deafness-Hand Syndrome
Blepharophimosis, Downslanted palpebral fissures, Lacrimal duct atresia, Sensorineural hearing im... ORPHA:1529
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Macrotia, Decreased body weight, Seizure, Epicanthus, Status epilepticus, Tonic seizure, Ptosis, ... OMIM:300260
Bone Marrow Failure Syndrome 5
Short stature, Hypogonadism, Testicular atrophy, Bilateral tonic-clonic seizure, Growth delay OMIM:618165
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Iris hypopigmentation, Decreased circulating T4 conce... ORPHA:177901
Sarcoidosis, Susceptibility To, 1
Chorioretinitis, Weight loss, Iridocyclitis, Uveitis, Abnormal salivary gland morphology, Enlarge... OMIM:181000
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Fasting hyperinsulinemia, Generalized non-motor (absence) seizure, Hyp... ORPHA:35878
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure with focal onset, Seizure, Synophrys, Tonic seizure, Bilateral ton... OMIM:619428
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:616685
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Coach Syndrome 1
Encephalocele, Molar tooth sign on MRI, Seizure, Ptosis, Aplasia/Hypoplasia of the cerebellar ver... OMIM:216360
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Low-set ears, Molar tooth sign on MRI, Ptosis OMIM:617563
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Bilateral tonic-clonic seizure with focal onset, Hypoplasia of the brainstem, Megalocornea, Epica... OMIM:618354
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613863
Noonan Syndrome 14
Lacrimal duct stenosis, Downslanted palpebral fissures, Sparse eyebrow, Hyperhidrosis, Lateral ve... OMIM:619745
Microphthalmia With Linear Skin Defects Syndrome
Abnormal nasolacrimal system morphology, Ambiguous genitalia, Abnormal testis morphology, Abnorma... ORPHA:2556
Proboscis Lateralis
Abnormal nasolacrimal system morphology, Abnormal location of the eyebrow, Abnormal eyebrow morph... ORPHA:141099
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Myoclon... ORPHA:1941
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Narrow internal auditory canal, Aplasia/Hypoplasia of the e... ORPHA:990
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Chiari type I malfo... OMIM:617836
Mosaic Variegated Aneuploidy Syndrome 1
Ambiguous genitalia, Epicanthus, Posteriorly rotated ears, Postnatal growth retardation, Hydrocep... OMIM:257300
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... OMIM:250790
Joubert Syndrome 8
Ptosis, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Liang-Wang Syndrome
Downslanted palpebral fissures, Megalocornea, Synophrys, Status epilepticus, Cerebellar atrophy, ... OMIM:618729
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Myo... ORPHA:86909
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Warburg Micro Syndrome 3
Myoclonic seizure, Macrotia, Decreased testicular size, Blepharophimosis, Hypoplastic labia minor... OMIM:614222
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Absent lacrimal punctum, Short stature, Hypoplasia of penis, Ab... ORPHA:2315
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Catar... OMIM:177650
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Upslanted palpebral fis... ORPHA:401777
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Macrotia, Short stature, ... ORPHA:769
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Intrauterin... ORPHA:96181
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, Status epilepticus, Generalized non-motor (absen... OMIM:617665
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Seizure, Short stature, Synophrys, Long eyelashes, Ptosis, Laterally extended eyeb... OMIM:610759
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure OMIM:254800
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Conductive hearing impairment, Microcornea, Ptosis, Iris coloboma, C... ORPHA:1297
Cln3 Disease
Myoclonic seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Cataract, Cerebe... ORPHA:228346
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Encephalocraniocutaneous Lipomatosis
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Retinopathy, Ventriculomegal... ORPHA:2396
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Broad eyebrow, Cryptorchidism, Highly arch... OMIM:619244
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure OMIM:618242
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... OMIM:201810
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Amoebiasis Due To Free-Living Amoebae
Conjunctival hyperemia, Abnormal cerebellum morphology, Seizure, Abnormal brainstem MRI signal in... ORPHA:68
Foxg1 Syndrome
Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing ORPHA:561854
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Generalized m... OMIM:613060
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, Atresia of the external auditory canal, Conductive hearing impairment, Absent eye... OMIM:106260
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... ORPHA:293978
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Lacrimal duct stenosis, Sensorineural hearing impairment OMIM:609057
Episodic Ataxia, Type 5
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Myoclonus... OMIM:613855
Intellectual Developmental Disorder, Autosomal Dominant 22
Short palpebral fissure, Seizure, Short stature, Epicanthus, Agenesis of corpus callosum, Growth ... OMIM:612337
46,Xx Sex Reversal 5
Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level OMIM:618901
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Sensorineural hearing impairment, Short stature, Epicanthus, Small for gestationa... OMIM:618419
Japanese Encephalitis
Abnormal substantia nigra morphology, Focal motor seizure, Myoclonus, Status epilepticus, Eyelid ... ORPHA:79139
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Seizure, Abnormal brainstem morphology, Myoclonus, Vertigo,... ORPHA:79279
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Cataract, Complex febrile seizure, Generaliz... OMIM:619338
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small... OMIM:619479
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... OMIM:615962
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... OMIM:300614
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Ocular albinism, Iris hypopi... ORPHA:2720
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Seizure, Myoclonic absence seizure OMIM:612621
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Dravet Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Epilep... ORPHA:33069
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:79137
Meckel Syndrome, Type 1
Chiari malformation, Ambiguous genitalia, female, Iris coloboma, External genital hypoplasia, Hyd... OMIM:249000
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Hyperopic astigmatism, Narrow palpebral fissure, Long palpebral fissure, Astigmatism,... ORPHA:363686
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Macrotia, Eating-induced seizure, Hypospadias, Anteverted ears, Myoclo... ORPHA:544254
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized myoclonic sei... OMIM:617350
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Intellectual Developmental Disorder, Autosomal Recessive 41
Downslanted palpebral fissures, Bilateral tonic-clonic seizure, Generalized-onset seizure, Genera... OMIM:615637
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Meningoencephalocele, Buphthalmos, Peters anomaly, Atresia of the external auditory canal, Cerebe... OMIM:236670
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Hypogonadism, Short stature, Generalized myoclonic seizure... ORPHA:79351
Christianson Syndrome
Macrotia, Abnormal repetitive mannerisms ORPHA:85278
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Enlarge... ORPHA:2298
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short palpebral fissure, Seizure, Generalized non-motor (absence) seizure, Epicanthus, Blepharoph... OMIM:617360
Harel-Yoon Syndrome
Developmental cataract, Cerebellar atrophy, Corneal opacity, Upslanted palpebral fissure, General... OMIM:617183
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Decreased body weight, Short stature, Ptosis, Decreased serum i... OMIM:608747
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Short palpebral fissure, Hypothyroidism, Abnormal nasolacrimal system morphology, Abnormal antihe... ORPHA:3047
Alkuraya-Kucinskas Syndrome
Kinked brainstem, Cerebellar dysplasia, Hypoplasia of the brainstem, Seizure, Cerebellar hypoplas... OMIM:617822
Leopard Syndrome 1
Sensorineural hearing impairment, Aplasia of the ovary, Epicanthus, Short stature, Protruding ear... OMIM:151100
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, G... ORPHA:2924
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
Febrile seizure (within the age range of 3 months to 6 years), Generalized myoclonic seizure, Gen... OMIM:617924
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Ambiguous genitalia, Macrotia, Encephalocele, Molar tooth sign on MRI, Rhizomelia... OMIM:616300
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements ORPHA:382
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abdominal pain, Abdominal distention, Dyspepsia, Nausea, Chronic diarrhea ORPHA:103907
Kniest Dysplasia
Lattice retinal degeneration, Bilateral ptosis, Lens luxation, Rhegmatogenous retinal detachment,... ORPHA:485
Neu-Laxova Syndrome
Abnormal nasolacrimal system morphology, Ambiguous genitalia, Abnormal eyelid morphology, Macroti... ORPHA:2671
Developmental Delay With Or Without Dysmorphic Facies And Autism
Seizure, Short stature, Microphallus, Epicanthus, Lacrimal duct aplasia, Supernumerary nipple, At... OMIM:618454
Warburg-Cinotti Syndrome
Epicanthus, Blepharophimosis, Retinal dystrophy, Limbal stem cell deficiency, Narrow palpebral fi... OMIM:618175
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Sex reversal, Gonadal dysgenesis, male, Hypoplasi... OMIM:233420
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Seizure, Hypogonadism, N... ORPHA:54595
Obesity, Hyperphagia, And Developmental Delay
Obesity, Seizure, Generalized non-motor (absence) seizure OMIM:613886
Proteus-Like Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Hydrocephalus, Limbal dermoid, Communi... ORPHA:2969
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Megalocornea-Intellectual Disability Syndrome
Downslanted palpebral fissures, Hypothyroidism, Megalocornea, Sensorineural hearing impairment, S... ORPHA:2479
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Angelman Syndrome
Gastroesophageal reflux, Vomiting, Gastrostomy tube feeding in infancy, Poor suck, Optic atrophy,... ORPHA:72
Sanjad-Sakati Syndrome
Seizure, Short stature, Hypoplasia of penis, Severe intrauterine growth retardation, External ear... ORPHA:2323
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... ORPHA:293987
Aicardi Syndrome
Dilated third ventricle, Sparse lateral eyebrow, Optic atrophy, Lateral ventricle dilatation, Cat... OMIM:304050
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
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Myoclonic seizure, Anterior pituitary hypoplasia, Synophrys, Long eyelashes, Tonic seizure, Bilat... OMIM:619983
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Hypoplasia of the iris, Severe short stature, Bilateral tonic-clonic seizure... OMIM:600092
Alazami Syndrome
Low-set ears, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal brainstem morphology, Cerebellar cyst, Buphthalmos, Cataract, Abnormal pons morphology, ... ORPHA:370997
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Chronic constipation, Hydrocephalus, Anter... OMIM:619575
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Focal impaired awareness seizure, Hydrocephalus, Generalized non-motor (absence) seizure OMIM:616521
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements ORPHA:251282
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Abnormal pinna morphology, Low-set ears, Cer... OMIM:616546
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Obesity, Generalized n... OMIM:619854
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
4Q21 Microdeletion Syndrome
Low-set ears, Hearing impairment, Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Downslanted palpebral fissures, Ep... OMIM:617798
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Dilated third ventricle ORPHA:314404
Myotonic Dystrophy 1
Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism OMIM:160900
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Gastrostomy tube feeding in infancy, Molar too... ORPHA:434179
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Premature thelarche, Breast aplasia, Iris coloboma, Atonic seizure, Hearing impai... ORPHA:268261
Gapo Syndrome
Sparse eyebrow, Megalocornea, Wide anterior fontanel, Optic atrophy, Epicanthus, Ventriculomegaly... OMIM:230740
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Downslanted palpebral fissures, Macrotia, Seizure, Thickened helices, Cerebellar hypoplasia, Syno... OMIM:300966
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Generalized non-motor (ab... OMIM:618482
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Myoclonic seizure, Epicanthus, Synophrys, Thick eyebrow, Posteriorly rotated ears, Hydrocephalus,... OMIM:619512
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Conjunctivitis, Periorbital dermoid cyst, Lacrimal duct stenosis, Mixed hearing impairment, Low-s... OMIM:615560
Megalocornea-Mental Retardation Syndrome
Downslanted palpebral fissures, Megalocornea, Seizure, Short stature, Epicanthus, Hypoplasia of t... OMIM:249310
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Molar tooth sign on MRI, Short stature, Epicanthus, Arrhinencephal... OMIM:277170
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Abdomin... ORPHA:298
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Beck-Fahrner Syndrome
Ptosis, Lacrimal duct stenosis, Seizure, Protruding ear OMIM:618798
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Downslanted palpebral fissures, Dacryocystitis, Seizure, External genital hypoplasia, Decreased t... ORPHA:251028
Roifman-Chitayat Syndrome
Lacrimal duct stenosis, Ventriculomegaly, Optic atrophy OMIM:613328
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2