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 |
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Downslanted palpebral fissures, Hypothyroidism, Megalocornea, Sensorineural hearing impairment, S... |
ORPHA:2479 |
Tetragametic Chimerism |
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Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Angelman Syndrome |
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Gastroesophageal reflux, Vomiting, Gastrostomy tube feeding in infancy, Poor suck, Optic atrophy,... |
ORPHA:72 |
Sanjad-Sakati Syndrome |
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Seizure, Short stature, Hypoplasia of penis, Severe intrauterine growth retardation, External ear... |
ORPHA:2323 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... |
ORPHA:293987 |
Aicardi Syndrome |
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Dilated third ventricle, Sparse lateral eyebrow, Optic atrophy, Lateral ventricle dilatation, Cat... |
OMIM:304050 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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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 |
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Myoclonic seizure, Anterior pituitary hypoplasia, Synophrys, Long eyelashes, Tonic seizure, Bilat... |
OMIM:619983 |
Nivelon-Nivelon-Mabille Syndrome |
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Focal-onset seizure, Hypoplasia of the iris, Severe short stature, Bilateral tonic-clonic seizure... |
OMIM:600092 |
Alazami Syndrome |
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Low-set ears, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Abnormal brainstem morphology, Cerebellar cyst, Buphthalmos, Cataract, Abnormal pons morphology, ... |
ORPHA:370997 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Dilated third ventricle, Lateral ventricle dilatation, Chronic constipation, Hydrocephalus, Anter... |
OMIM:619575 |
Branchiogenic Deafness Syndrome |
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Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Obesity, Focal impaired awareness seizure, Hydrocephalus, Generalized non-motor (absence) seizure |
OMIM:616521 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Jerky head movements |
ORPHA:251282 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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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 |
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Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Obesity, Generalized n... |
OMIM:619854 |
Ovarian Hyperstimulation Syndrome |
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Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
4Q21 Microdeletion Syndrome |
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Low-set ears, Hearing impairment, Abnormal repetitive mannerisms |
ORPHA:238750 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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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 |
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Cataract, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Dilated third ventricle |
ORPHA:314404 |
Myotonic Dystrophy 1 |
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Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Orofaciodigital Syndrome Type 14 |
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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 |
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Hypothyroidism, Premature thelarche, Breast aplasia, Iris coloboma, Atonic seizure, Hearing impai... |
ORPHA:268261 |
Gapo Syndrome |
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Sparse eyebrow, Megalocornea, Wide anterior fontanel, Optic atrophy, Epicanthus, Ventriculomegaly... |
OMIM:230740 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
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Downslanted palpebral fissures, Macrotia, Seizure, Thickened helices, Cerebellar hypoplasia, Syno... |
OMIM:300966 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
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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 |
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Myoclonic seizure, Epicanthus, Synophrys, Thick eyebrow, Posteriorly rotated ears, Hydrocephalus,... |
OMIM:619512 |
Adiposis Dolorosa |
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Constipation, Abdominal distention |
OMIM:103200 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Conjunctivitis, Periorbital dermoid cyst, Lacrimal duct stenosis, Mixed hearing impairment, Low-s... |
OMIM:615560 |
Megalocornea-Mental Retardation Syndrome |
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Downslanted palpebral fissures, Megalocornea, Seizure, Short stature, Epicanthus, Hypoplasia of t... |
OMIM:249310 |
Orofaciodigital Syndrome Vi |
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Conductive hearing impairment, Molar tooth sign on MRI, Short stature, Epicanthus, Arrhinencephal... |
OMIM:277170 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Gastroesophageal reflux, Vomiting, Diarrhea, Small intestinal dysmotility, Poor appetite, Abdomin... |
ORPHA:298 |
Hydroxykynureninuria |
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Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
Beck-Fahrner Syndrome |
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Ptosis, Lacrimal duct stenosis, Seizure, Protruding ear |
OMIM:618798 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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Downslanted palpebral fissures, Dacryocystitis, Seizure, External genital hypoplasia, Decreased t... |
ORPHA:251028 |
Roifman-Chitayat Syndrome |
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Lacrimal duct stenosis, Ventriculomegaly, Optic atrophy |
OMIM:613328 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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