Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
orthodenticle homeobox 1
Synonyms:
A730044F23Rik,  jv

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Otx1 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Thick eyebrow, Elevated circulating luteinizing hormone level, Streak ovary, Decreased serum estr... ORPHA:572333
X-Linked Intellectual Disability, Van Esch Type
Intrauterine growth retardation, Cryptorchidism, Decreased serum testosterone concentration, Micr... ORPHA:163976
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Microcephaly, Absence of secondary se... ORPHA:163971
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Decreased serum testo... OMIM:300869
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements, Abnormal head movements OMIM:616939
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Developmental cataract, Azoospermi... ORPHA:99330
Autosomal Recessive Spastic Paraplegia Type 26
Hyperintensity of cerebral white matter on MRI, Cataract, Decreased serum testosterone concentrat... ORPHA:101006
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:179494
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor, Jerky head ... ORPHA:98807
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Hypoplasia of the lacrimal punctum, Cryptorchidism, Ptosis, Recurrent corneal... ORPHA:2363
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Hypogonadotropic hypogonadism, Decreased circulating follicle sti... ORPHA:453533
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Joubert Syndrome 36
Sensorineural hearing impairment, Molar tooth sign on MRI, Ptosis, Highly arched eyebrow OMIM:618763
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Male hypo... ORPHA:261529
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Isolated Congenital Alacrima
Lacrimal punctal atresia, Ptosis, Distichiasis, Lacrimal gland hypoplasia, Keratitis, Corneal ero... ORPHA:91416
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Clumsiness, Recurrent hand flapping ORPHA:100973
Joubert Syndrome 10
Low-set ears, Molar tooth sign on MRI, Downslanted palpebral fissures, Epicanthus, Cerebellar ver... OMIM:300804
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Streak ovary, Microce... ORPHA:2232
47,Xyy Syndrome
Cerebellar dysplasia, Varicocele, Abnormal brainstem morphology, Low-set ears, Cryptorchidism, Mi... ORPHA:8
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia OMIM:180920
Waardenburg Syndrome, Type 4C
White eyebrow, Heterochromia iridis, Cryptorchidism, Sensorineural hearing impairment, Blue iride... OMIM:613266
Meckel Syndrome, Type 10
Micropenis, Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Epicanthus, Ptosis, Na... OMIM:614175
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Low-set ears, Corneal opacity, Abnormal cerebellum morphology, Hyd... ORPHA:1532
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Febri... ORPHA:3044
Waardenburg Syndrome, Type 2E
White eyebrow, Heterochromia iridis, Hypoplasia of the iris, Sensorineural hearing impairment, Ap... OMIM:611584
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Aarskog-Scott Syndrome
Large earlobe, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Dec... OMIM:305400
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Recurrent otitis media, Chordee, Cryptorchidism, Male infertility, Bil... ORPHA:1772
Slc35A2-Cdg
Failure to thrive in infancy, Dandy-Walker malformation, Microcephaly, Cortical dysplasia, Dilati... ORPHA:356961
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Tonic seizure... OMIM:619606
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Vertigo, Torticollis ORPHA:71518
Progeria-Short Stature-Pigmented Nevi Syndrome
Band keratopathy, Delayed puberty, Small for gestational age, Micropenis, Cataract, Decreased ser... ORPHA:2959
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormal response to ACTH stimulati... ORPHA:157954
Panhypophysitis
Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto thyroiditis, Decreased seru... ORPHA:95513
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Meningioma
Focal T2 hypointense thalamic lesion, Decreased serum estradiol, Increased circulating prolactin ... ORPHA:2495
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Cerebral dysmyelination, Atonic seizure, Generalized myoclonic seizure, Abn... ORPHA:101070
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Micropenis, Bilateral tonic-clonic seizure, Hypergonadotropic hypogonadism, Seizure, Decreased te... OMIM:601217
Joubert Syndrome 37
Low-set ears, Cryptorchidism, Micropenis, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, ... OMIM:619185
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ... ORPHA:166024
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Cryptorchidism, Cataract, External genital hypoplasia, Microcephaly, Short... OMIM:612947
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the lacrimal punctum, Limbal stem cell deficiency, Hypoplastic lacrimal duct, Corne... OMIM:149730
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Central hypothyroidism, Cerebellar hypoplasia, Short stature, Pos... OMIM:616113
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Episodic Ataxia Type 4
Incoordination, Frequent falls, Ataxia, Abnormal head movements, Vertigo ORPHA:79136
Usher Syndrome Type 1
Sensorineural hearing impairment, Cataract, Vestibular hypofunction, Cerebral cortical atrophy, I... ORPHA:231169
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormality of the extraocular muscles, Orchitis, Enlarged... ORPHA:449563
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Corneal dystrophy, Low-set ears, Long eyelashes, Cryptorchidism, Hypoplastic labia m... ORPHA:495875
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Noonan Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Aplasia of the s... ORPHA:648
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity, Limb ata... ORPHA:251282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Hypoplasia of the pons, Ventriculomegaly, Dandy-Walker malformation,... OMIM:613154
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormality of the basal ganglia, Downslanted palpebral fissures, Abnormal brainstem MRI signal i... ORPHA:263410
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Lacrimal punctal atresia, Lacrimal gland hypoplasia OMIM:103420
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Long eyelashes, Growth delay, Highly arched eyebrow, Simplified gy... ORPHA:411493
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Abnormal corpus callosum morphology, Abnormal caudate nucleus morphology, Age... ORPHA:300573
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Hearing impairment, Aplasia/hypoplasia of the uterus, Decreased serum estradi... ORPHA:243
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Ptosis, Hypogonadism, Decreased testicular size ORPHA:1875
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Micropenis, Lissencephaly, Pachygyria, Postnatal growth reta... OMIM:300067
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Secondary amenorrhea, Increased circulati... OMIM:615300
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Developmental cataract, Microcephaly, Short stature, Cortical dysplasia, Post... OMIM:608278
Spastic Paraplegia 26, Autosomal Recessive
Cataract, Decreased serum testosterone concentration, Cerebral cortical atrophy, Abnormal cerebel... OMIM:609195
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Ptosis, Dandy-Walker malformation, Superior cerebell... OMIM:617622
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma, Microtia ORPHA:139450
2Q24 Microdeletion Syndrome
Small for gestational age, Cataract, Growth delay, Downslanted palpebral fissures, Low-set, poste... ORPHA:1617
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Recurrent hand flapping OMIM:309548
Charge Syndrome
Hypothyroidism, Cryptorchidism, Aplasia of the semicircular canal, Ptosis, External genital hypop... OMIM:214800
Bone Marrow Failure Syndrome 5
Testicular atrophy, Microcephaly, Short stature, Seizure, Hypogonadism OMIM:618165
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Joubert Syndrome 35
Low-set ears, Molar tooth sign on MRI, Highly arched eyebrow, Ptosis, Synophrys, Telecanthus, Elo... OMIM:618161
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis, Synophrys, Epicanthus, Premature ova... ORPHA:126
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Coach Syndrome 2
Chorioretinal coloboma, Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Cere... OMIM:619111
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Hypoplasia of the corpus callosum, Atonic seizure, Long eyelashes, Prominent ear h... ORPHA:411986
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormality of... ORPHA:99852
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI, Occipital encephalocele OMIM:617562
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Apraxia, Involuntary movements, Bradykinesia, Limb aprax... ORPHA:240103
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced s... OMIM:607208
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Short stature, Failure to thrive, Hypogonadism, Decre... OMIM:201100
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Hypertrichosis Cubiti
Thick eyebrow, Abnormal eyelash morphology, Ptosis, Downslanted palpebral fissures, Microcephaly,... ORPHA:2220
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Heterochromia iridis, Conductive hearing impairment, ... ORPHA:90646
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Epicanthus, Keratoconus OMIM:229200
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Abnormal brainstem morphology, Generalized myoclonic se... ORPHA:2382
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Cerebellar hypoplasia, Focal-onset seizure, Hypoplasia of the brains... OMIM:619301
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Microcephaly, Short stature, Abdominal obesity, Postnatal growth retardation, De... OMIM:618160
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Ptosis, Hypoplasia of the brainstem... OMIM:611560
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Hypoplastic hippocampus, Ptosis, Microcephaly, Dysgenesis of the basal ganglia,... ORPHA:101685
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Hearing impairment, Downslanted palpebral fissures, Microcephaly, Bilateral pto... OMIM:619701
Filippi Syndrome
Cerebellar atrophy, Decreased body weight, Intrauterine growth retardation, Cryptorchidism, Micro... OMIM:272440
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Generalized myoclonic seizure, Focal-onset seizure, Bilateral ptosis, Diffuse... ORPHA:330050
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Focal-onset seizure, Hypoplasia of the brains... OMIM:619302
Joubert Syndrome 9
Molar tooth sign on MRI, Cataract, Astigmatism, Ventriculomegaly, Retinal dystrophy OMIM:612285
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Abnormal brainstem morphology, Dilated fourth ventricle, Cerebellar hypopl... ORPHA:370959
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El... OMIM:609583
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Cerebellar-Facial-Dental Syndrome
S-shaped palpebral fissures, Low-set ears, Cryptorchidism, Abnormal midbrain morphology, Cerebell... ORPHA:444072
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Low-set ears, Conductive hearing impairment, Molar tooth sign on MRI, Fai... OMIM:277170
Joubert Syndrome 3
Low-set ears, Molar tooth sign on MRI, Highly arched eyebrow, Ptosis, Epicanthus, Elongated super... OMIM:608629
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Sensorineural hearing impairment, Decreased serum test... OMIM:241080
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, A... OMIM:194072
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Abnormality of the hypothalamus-pituitary axis, Aplasia/Hypoplasia of the... ORPHA:2318
Bardet-Biedl Syndrome
Cryptorchidism, Hearing impairment, Obesity, Hypoplasia of penis, Downslanted palpebral fissures,... ORPHA:110
Nicolaides-Baraitser Syndrome
Short palpebral fissure, Epileptic spasm, Long eyelashes, Cryptorchidism, Severe short stature, C... ORPHA:3051
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Thick eyebrow, Increase... ORPHA:247768
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Molar tooth sign on ... ORPHA:220497
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Small for gestational age, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:245570
Kid Syndrome
Punctate keratitis, Severe sensorineural hearing impairment, Hypohidrosis, Posterior blepharitis,... ORPHA:477
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Chorioretinal degeneration, P... OMIM:303110
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Low-set ears, Microcephaly, Failure to thrive, Posteriorly rot... OMIM:616281
Joubert Syndrome 40
Molar tooth sign on MRI, Almond-shaped palpebral fissure OMIM:619582
Usher Syndrome Type 3
Sensorineural hearing impairment, Cataract, Astigmatism, Vestibular hypofunction, Iris hypopigmen... ORPHA:231183
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Microcephaly, Cerebral cortical atrophy, Myoclonus, Focal impaired awareness seiz... ORPHA:485350
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Cerebellar atrophy, Perisylvian polymicrogyria, Bilateral tonic-clonic seizure ... OMIM:619605
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Nasolacrimal Duct Cyst
Poor suck, Chronic irritative conjunctivitis, Ectropion of lower eyelids, Nasolacrimal duct obstr... ORPHA:141083
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Bile duct proliferation, Molar tooth sign on MRI, Anencephaly,... OMIM:611134
Autosomal Dominant Non-Syndromic Intellectual Disability
Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Epileptic spasm, Dilation... ORPHA:178469
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Molar tooth sign on MRI OMIM:614464
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Seizure, Cochlear degeneration ORPHA:3233
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Temporal cortical atrophy, Hypoplasia of ... OMIM:615665
Joubert Syndrome 31
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:617761
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Sensorineural hearing impai... OMIM:617565
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Microcephaly, Short stature, Myoclonic seizu... OMIM:618596
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal lacrimal duct morphology, Abnormal salivary gland morphology, Abnormality of the extraoc... ORPHA:79078
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Cupped ear, Absent lacrimal punctum, Low-set ears, Lower eyelid colobom... OMIM:167730
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Cerebral dysmyelination, Cryptorchidism, Feeding difficulties, Decreased corneal thickness, Highl... ORPHA:293967
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Polymicrogyria OMIM:617757
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Microcephaly, Sparse or absent e... ORPHA:3130
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Short stature, Precocious puberty, Type II di... ORPHA:254516
Joubert Syndrome 2
Chorioretinal coloboma, Abnormal corpus callosum morphology, Encephalocele, Thickened superior ce... OMIM:608091
Rubinstein-Taybi Syndrome
Failure to thrive in infancy, Low-set ears, Cryptorchidism, Nasolacrimal duct obstruction, Ptosis... ORPHA:783
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Arthrogryposis, Distal, Type 5
Keratoglobus, Blepharophimosis, Astigmatism, Abnormality of retinal pigmentation, Ptosis, Epicant... OMIM:108145
Episodic Ataxia, Type 9
Tonic seizure, Vertigo, Cerebellar edema, Paroxysmal vertigo, Bilateral tonic-clonic seizure, Clo... OMIM:618924
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Decreased body weight, Small for gestational age, Abnormal external genitalia, Short stature, Pro... ORPHA:231140
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Abnormal testis morphology, Keratoconus, Optic atr... ORPHA:791
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Cryptorchidism, Sensorineural hearing impairment, Obesity, Dacryocystit... ORPHA:464288
Adult Krabbe Disease
Abnormal pons morphology, Abnormal corpus callosum morphology, Erectile dysfunction, Abnormal mid... ORPHA:206448
Charge Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Ptosis, Highly arched eyebrow, ... ORPHA:138
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar hypoplasia, Rhizomelic arm shortening, Dandy-Walk... ORPHA:397715
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Molar tooth sign on ... ORPHA:220493
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Downslanted palpebral fissures, Microcephaly, Generalized... OMIM:619616
1Q41Q42 Microdeletion Syndrome
Upslanted palpebral fissure, Cryptorchidism, Growth delay, Short stature, Holoprosencephaly, Hype... ORPHA:250999
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Cerebellar atrophy, Tonic seizure, Progressive microcephaly, Cryptorchidism, Fo... OMIM:618917
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Micropenis, Overweight, Microcephaly, Short stature, Macrotia, Bilateral to... ORPHA:457240
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Micropenis, Se... OMIM:243310
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Abnormal hippocampus morphology, Hyp... ORPHA:208447
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Abnormal brainstem morphology, Low-set ears, Dandy-Walker malformation, A... ORPHA:163961
Cornelia De Lange Syndrome 5
Long eyelashes, Cryptorchidism, Micropenis, Hearing impairment, Ptosis, Highly arched eyebrow, Mi... OMIM:300882
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Joubert Syndrome 38
Small pituitary gland, Low-set ears, Molar tooth sign on MRI, Short stature, Decreased serum insu... OMIM:619476
Joubert Syndrome 28
Molar tooth sign on MRI, Highly arched eyebrow OMIM:617121
Lissencephaly 10
Agyria, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-o... OMIM:618873
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral calcification, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Lacrimal d... ORPHA:73246
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Focal-onset seizure, Ptosis, Highly arched eyebrow, Downslanted palpeb... OMIM:615476
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Joubert Syndrome 6
Chorioretinal coloboma, Thickened superior cerebellar peduncle, Bile duct proliferation, Molar to... OMIM:610688
Crouzon Syndrome
Cerebellar hypoplasia, Conductive hearing impairment, Chiari malformation, Conjunctivitis, Ptosis... ORPHA:207
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Cataract, Corneal opacity, Abnormal eyelash morphology,... ORPHA:2399
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Abnormal brainstem morphology, Ameno... ORPHA:251937
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Upslanted palpebral fissure, Hypoplastic lacrimal duct, Absent lacrimal punctum OMIM:273390
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Microtriplication 11Q24.1
Upslanted palpebral fissure, Long eyelashes, Thick eyebrow, Microcephaly, Synophrys, Keratoconus ORPHA:289522
Branchiootorenal Syndrome 1
Cupped ear, Incomplete partition of the cochlea type II, Euthyroid goiter, Lacrimal duct stenosis... OMIM:113650
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cerebellar atrophy, Testicular atrophy OMIM:613909
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Generalized non-motor (absence) seizure OMIM:300801
Apert Syndrome
Agenesis of corpus callosum, Conductive hearing impairment, Sensorineural hearing impairment, Chi... ORPHA:87
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Conductive hearing impairment,... ORPHA:2754
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Low-set ears, Motor stereotypy, Cerebral palsy, Spasticity, Hyper... ORPHA:352490
Genitourinary And/Or Brain Malformation Syndrome
Abnormality of the outer ear, Upslanted palpebral fissure, Dysplastic corpus callosum, Chordee, C... OMIM:618820
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Hypoplasti... OMIM:619317
Spinocerebellar Ataxia Type 32
Azoospermia, Cerebellar atrophy, Male infertility, Testicular atrophy ORPHA:276183
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Enlarged lacrimal glands, Abnormal pancreas morphology, Abnor... ORPHA:449432
Fontaine Progeroid Syndrome
Cryptorchidism, Cerebellar hypoplasia, Microcephaly, Aplastic/hypoplastic lacrimal glands, Cerebe... OMIM:612289
Chromosome 16Q22 Deletion Syndrome
Upslanted palpebral fissure, Short palpebral fissure, Small for gestational age, Low-set ears, Cr... OMIM:614541
Jacobsen Syndrome
Hydrocephalus, Chorioretinal coloboma, Intrauterine growth retardation, Low-set ears, Cryptorchid... OMIM:147791
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Upslanted palpebral fissure, Fusion of the left and right thalami, Simple ear, Dilated fourth ven... OMIM:619306
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyebrow, Cerebral dysmyelination, Cerebral atrophy, Hypohidrosis, Heterochromia iridis, Cry... OMIM:609136
Ramos-Arroyo Syndrome
Corneal ulceration, Feeding difficulties in infancy, Upslanted palpebral fissure, Nasolacrimal du... ORPHA:1051
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Coach Syndrome 3
Molar tooth sign on MRI, Ptosis OMIM:619113
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Ataxia, Poor coordination, Recurrent hand flapping, Macrotia, Tremor ORPHA:544254
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Dilated third ventricle, Leukoence... OMIM:619244
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Cessation of head growth... OMIM:603896
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized cerebral atrophy/hypoplasia, Generalized-onset seizure, Generalized m... ORPHA:36387
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness se... OMIM:610003
Intellectual Developmental Disorder, X-Linked 30
Upslanted palpebral fissure, Microcephaly, Short stature, Macrotia, Hydrocephalus, Bilateral toni... OMIM:300558
Warburg Micro Syndrome 3
Shallow anterior chamber, Small scrotum, Developmental cataract, Secondary microcephaly, Micropen... OMIM:614222
Optic Atrophy-Intellectual Disability Syndrome
Upslanted palpebral fissure, Abnormal hippocampus morphology, Optic nerve hypoplasia, Optic disc ... ORPHA:401777
Lacrimal Duct Defect
Dacryocystocele, Lacrimal duct atresia, Conjunctivitis, Dacryocystitis OMIM:149700
Pendred Syndrome
Goiter, Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Cerebral cortical hemiatrophy, Agenesis of corpus callosum, Cryptorchidism, Hear... ORPHA:96147
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Thick cerebral cortex, Cortical dysplasia, Bi... ORPHA:101071
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Decreased body weight, Agenesis of corpus callosum, Hearing imp... ORPHA:314621
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Cerebral calcification, Abnormal eyebrow morphology, Primary amenorrhea, Hearing impairment, Thin... ORPHA:3220
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Spasticity, Babinski sign ORPHA:280763
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Amoebiasis Due To Free-Living Amoebae
Corneal ulceration, Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, A... ORPHA:68
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Foxg1 Syndrome
Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Spasticity, Hyperkinetic movement... ORPHA:561854
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Absent eyelashes, Hyperintensity of cerebral w... ORPHA:544488
Salt And Pepper Developmental Regression Syndrome
Hearing impairment, Status epilepticus, Microcephaly, Failure to thrive, Bilateral tonic-clonic s... OMIM:609056
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, High-frequency sensorineural hearing impairment, Sensorineural ... ORPHA:2590
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Cerebral atrophy, Retinopathy, Agenesis of corpus callosum, Absent septum... ORPHA:2396
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Cerebral atrophy, Premature pubarche, Bilateral tonic-clonic seizure ORPHA:457205
Wolfram Syndrome 1
Cerebral atrophy, Hypothyroidism, Diabetes insipidus, Sensorineural hearing impairment, Growth de... OMIM:222300
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ataxia, To... ORPHA:3095
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Decreased fertility ... ORPHA:2965
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Sensorineural hearing impairment... OMIM:618170
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Autosomal Recessive Non-Syndromic Intellectual Disability
Spasticity, Chorea, Motor stereotypy ORPHA:88616
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Lacrimal duct stenosis, Growth delay, Ptosis, Microcephaly, Low-set, posteriorly ... ORPHA:457193
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Cryptorchidism, Iris coloboma, Astigmati... ORPHA:494344
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Increased circulating procalcitonin concentration, Hypointensity of cere... ORPHA:363549
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Micropenis, Adrenal hypoplasia, Po... OMIM:614732
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Astigmatism, Optic nerve dysplasia, Partial agenesis o... OMIM:617296
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... ORPHA:98818
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Abnormal size of pituitary gland, Decreased circulating androgen concentr... ORPHA:293978
Distal Monosomy 10Q
Abnormality of the outer ear, Upslanted palpebral fissure, Low-set ears, Cerebellar hypoplasia, C... ORPHA:96148
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Developmental cataract, Agenesis of corpus callosum, Constipati... ORPHA:464738
Joubert Syndrome 1
Chorioretinal coloboma, Occipital myelomeningocele, Low-set ears, Cerebellar vermis hypoplasia, M... OMIM:213300
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Agyria, Abnormal pons morphology, Buphthalmos, Abnormal brainstem morphology, Cataract, Ventricul... ORPHA:370997
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Constipation, Gastrointestinal dysmotility, Abdominal pain, Abdominal distention, Malnutrition, A... OMIM:613662
Perrault Syndrome 2
Sensorineural hearing impairment, Streak ovary, Amenorrhea OMIM:614926
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Developmental cataract, Atonic seizure, Intrauterine growth retardati... ORPHA:79351
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Volvulus Of Midgut
Constipation, Neonatal intestinal obstruction, Abdominal distention, Long palpebral fissure, Tele... OMIM:193250
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Steinert Myotonic Dystrophy
Cholelithiasis, Hyperinsulinemia, Abnormality of thyroid physiology, Abnormal cerebral white matt... ORPHA:273
Fragile X Syndrome
Macrotia, Abnormal head movements, Recurrent hand flapping OMIM:300624
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Mccune-Albright Syndrome
Abnormal endocrine physiology, Irregular menstruation, Goiter, Hearing impairment, Increased seru... ORPHA:562
Mitochondrial Complex I Deficiency, Nuclear Type 21
Growth delay, Leukoencephalopathy, Generalized non-motor (absence) seizure, Abnormal cerebellum m... OMIM:618242
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormality of female external genitalia, Decreased circulating cortisol level, Male pseudohermap... ORPHA:90790
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Cerebellar hypoplasia, Growth delay, Abnorma... ORPHA:488635
Intellectual Developmental Disorder With Seizures And Language Delay
Thick eyebrow, Myoclonic absence seizure, Downslanted palpebral fissures, Bilateral tonic-clonic ... OMIM:619000
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal cortical dysplasia, Focal aware seizure, Hemimegalencephaly, Focal-onset seiz... ORPHA:98820
Japanese Encephalitis
Eyelid fasciculation, Abnormal pons morphology, Cerebral edema, Abnormal caudate nucleus morpholo... ORPHA:79139
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Fasciculations, Abnormality of extrapyramidal motor function, Mot... ORPHA:275864
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Liang-Wang Syndrome
Cerebral atrophy, Cerebellar atrophy, Downslanted palpebral fissures, Synophrys, Generalized non-... OMIM:618729
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Small for gestational age, Low-set ears, Cryptorchidism,... ORPHA:97360
Proboscis Lateralis
Orbital cyst, Chorioretinal coloboma, Unilateral narrow palpebral fissure, Abnormal corpus callos... ORPHA:141099
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Retrocerebellar cyst, Cryptorchidism, Micropenis, Slender build, Ptosis, Short ... ORPHA:364028
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Severe sensorineural hearing impairment, Chorioretinal coloboma, Cervical spina bifida, Obesity, ... OMIM:600122
Christianson Syndrome
Gait ataxia, Truncal ataxia, Macrotia, Motor stereotypy ORPHA:85278
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Trehalase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Puberty and gonadal disorders, Sensorineural hearing impairment, Generalized my... ORPHA:464282
Sarcoidosis
Hypothyroidism, Weight loss, Diabetes insipidus, Uveitis, Parotitis, Abnormal conjunctiva morphol... ORPHA:797
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Astigmati... OMIM:613026
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Small for gestational age, Severe postnatal growth retardation, ... ORPHA:73272
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping OMIM:618859
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements OMIM:245348
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Generalized... OMIM:619157
Neu-Laxova Syndrome
Abnormal cortical gyration, Pterygium, Cerebellar hypoplasia, External genital hypoplasia, Dandy-... ORPHA:2671
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Macrotia, Recurrent hand flapping OMIM:617268
Marden-Walker Syndrome
Agenesis of corpus callosum, Low-set ears, Intrauterine growth retardation, Cryptorchidism, Micro... OMIM:248700
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Dilated third ventricle, Cataract... ORPHA:314404
Mosaic Variegated Aneuploidy Syndrome 1
Upslanted palpebral fissure, Cryptorchidism, Cerebellar hypoplasia, Dandy-Walker malformation, Mi... OMIM:257300
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Bilateral tonic-clonic seizure, Focal sensory seizure with visual features... OMIM:615400
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Absent eyelashes, Thick eyebrow, Ptosis, Highly arched eyebrow, Posterio... ORPHA:228396
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
Hearing impairment, Nasolacrimal duct obstruction OMIM:614187
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Sensorineural hearing impairment, At... ORPHA:52429
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure, Hypoplasia of the corpus callosum OMIM:617771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Cryptorchidism, Cerebellar hypoplasia, Atresia of the external auditory canal, Hypoplasia... OMIM:236670
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal brainstem morphology, I... ORPHA:370022
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Growth ... OMIM:619428
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Abnormal head movements, Chorea,... ORPHA:382
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Hypoglycemic seizures, Decreased circulating dehydroepiandrosterone concen... ORPHA:361
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypoplasia of the corpus callosum, Small for gestational age, Focal-onset seizure, Primary microc... ORPHA:289266
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Atrophy/Degeneration affecting the brainstem, Upslanted palpebral fissure, Cerebellar atrophy, Hy... OMIM:617193
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Nasolacrimal duct obstruction, Hypogonadism OMIM:273400
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Myoclonic seizure, Atonic seizure, Cerebellar hypoplasia, Bilateral tonic-clo... OMIM:617810
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Feeding difficulties, Abdominal distention, Hypoplasia of the corpus callosum, D... OMIM:618528
Craniofacial-Deafness-Hand Syndrome
Downslanted palpebral fissures, Blepharophimosis, Lacrimal duct atresia, Sensorineural hearing im... ORPHA:1529
Alg6-Cdg
Puberty and gonadal disorders, Low-set ears, Cerebellar hypoplasia, Failure to thrive, Increased ... ORPHA:79320
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Nausea, Abnormality of the extraocular muscles, Gastrointestinal dy... ORPHA:298
Alkuraya-Kucinskas Syndrome
Upslanted palpebral fissure, Cerebellar dysplasia, Small scrotum, Kinked brainstem, Low-set ears,... OMIM:617822
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Male pseudohermaphroditism, Microcephaly, Epispa... ORPHA:2556
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Congenital hypothyroidism, Failure to thrive, Precocious puberty, Seizure OMIM:614736
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Upslanted palpebral fissure, Tonic seizure, Decreased body weight, Low-set ears, Cryptorchidism, ... OMIM:300260
Nivelon-Nivelon-Mabille Syndrome
Upslanted palpebral fissure, Hypoplasia of the iris, Severe short stature, Focal-onset seizure, M... OMIM:600092
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Cerebral atrophy, Obesity, Thin corpus callosum, Focal impaired awareness seizure,... OMIM:616521
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Split hand/foot malformation 1 (SHFM1)
Lacrimal duct aplasia, Sensorineural hearing impairment DECIPHER:46
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ptosis, Microcephaly, Protruding ear, Periventricular leukomalacia, Seizure OMIM:618798
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Long eyelashes, Cryptorchidism, Thick eyebrow, Nasolacrimal duct obstruction, Ptos... OMIM:610759
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Abnormal brainstem morphology, Cataract, Short st... ORPHA:2720
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Retinal detachment, Decreased corneal thicknes... ORPHA:90354
Craniopharyngioma
Abnormal hypothalamus morphology, Central adrenal insufficiency, Increased circulating prolactin ... ORPHA:54595
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Nasolacrimal duct obstruction, Abnormality of the... ORPHA:440727
Bor Syndrome
Abnormal lacrimal duct morphology, Hearing impairment, Atresia of the external auditory canal, En... ORPHA:107
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Increased pineal volume, ... ORPHA:769
16P13.2 Microdeletion Syndrome
Poor suck, Feeding difficulties in infancy, Hydrocephalus, Cryptorchidism, Dilated third ventricl... ORPHA:500055
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Molar tooth sign on MRI, Low-set ears, Ptosis OMIM:617563
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormality of the female genitalia, Absent lacrimal punctum, ... ORPHA:2315
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Atonic seizure, Febrile seizure (within the age range of 3 months to 6 ... OMIM:615744
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Uveitis, Chorioretinitis, Enlarged lacrimal glands, Iridocycl... OMIM:181000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears... ORPHA:990
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Cerebellar atrophy, Chin myoclonus, Aplasia/H... ORPHA:263516
Coach Syndrome 1
Occipital encephalocele, Molar tooth sign on MRI, Growth delay, Ptosis, Aplasia/Hypoplasia of the... OMIM:216360
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
4Q21 Microdeletion Syndrome
Low-set ears, Tremor, Hearing impairment, Motor stereotypy ORPHA:238750
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Generalized non-motor (absence) seizure, Hyperinsulinemic hypoglycemia,... ORPHA:35878
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Short stature, Bilateral tonic-clonic s... OMIM:617836
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Cerebellar cyst, Basal gangli... ORPHA:79243
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Polymicrogyria, Atypical absence seizure OMIM:300388
Angelman Syndrome
Poor suck, Cerebral dysmyelination, Constipation, Gastroesophageal reflux, Gastrostomy tube feedi... ORPHA:72
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized no... OMIM:271980
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile seizure (within the age r... ORPHA:307
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Low-set ears, Cryptorchidism, Micropenis, Severe intrauterine growth retar... OMIM:241410
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Ptosis OMIM:612291
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Dyskeratosis Congenita, Autosomal Recessive 2
Cerebral calcification, Growth delay, Testicular atrophy OMIM:613987
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormality of the basal ganglia, Microcephaly, Lissencephaly, Partial agenesis of the corpus cal... ORPHA:86822
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Upslanted palpebral fissure, Intrauterine growth retardation, Hyperopic astigmatism, Astigmatism,... ORPHA:363686
Arima Syndrome
Occipital meningocele, Chorioretinal coloboma, Dilated fourth ventricle, Molar tooth sign on MRI,... OMIM:243910
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type II lissencephaly, Epicant... ORPHA:300570
Noonan Syndrome 14
Cryptorchidism, Lacrimal duct stenosis, Sparse eyebrow, Downslanted palpebral fissures, Low-set, ... OMIM:619745
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Low-set ears, Micropenis, Molar tooth sign on MRI, Dysgenesis of the cereb... OMIM:619479
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Bilateral ptosis, Bilateral tonic-clonic seizure... OMIM:618856
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Seizure, Atonic seizure, Myoclonus OMIM:614018
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Microcornea, Cataract, Conductive hearing impairment, Ptosis, Nasola... ORPHA:1297
Aicardi Syndrome
Chorioretinal lacunae, Sparse lateral eyebrow, Cavum septum pellucidum, Dilated third ventricle, ... OMIM:304050
Dpm1-Cdg
Cerebral atrophy, Cerebellar atrophy, Atonic seizure, Pontocerebellar atrophy, Hypoplasia of the ... ORPHA:79322
Dravet Syndrome
Photosensitive myoclonic seizure, Atypical absence seizure, Focal hemiclonic seizure, Complex feb... ORPHA:33069
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Vertigo, Myoclonus, Aplasia/Hypoplasia of the cerebellum, Seizure,... ORPHA:79279
Silver-Russell Syndrome
Intrauterine growth retardation, Failure to thrive in infancy, Low-set ears, Cryptorchidism, Abno... ORPHA:813
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Cataract, Testicular atrophy, Hypogonadism OMIM:160900
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Blepharitis, Micropenis, Absent eyelashes, Supernumerary nipple, Atresia of the external auditory... OMIM:106260
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Lacrimal duct atresia, Agenesis of corpus callosum, Seizure OMIM:300952
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormality of the hypothalamus-pituitary ax... ORPHA:293987
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Short palpebral fissure, Hypothyroidism, Low-set ears, Cryptorchidism, Blepharophimosis, Severe s... ORPHA:3047
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Decreased body weight, Progressive microcephaly, Sensorineural hearing impair... OMIM:614559
Warburg Micro Syndrome 2
Hypoplastic labia majora, Small scrotum, Developmental cataract, Cryptorchidism, Micropenis, Micr... OMIM:614225
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplasia/Hypoplasia of the iris ORPHA:1067
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Focal motor seizure, Generalized non-motor (absence) seizure, Seizure, Status ... OMIM:617665
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Cerebellar hypoplasia, Molar tooth sign on MRI, Rhizomelia, Dandy-Walker malforma... OMIM:616300
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Thin corpus callosum, Cryptorchidism, Thick eyebrow, Cerebellar hypoplasia, Microcephaly, Epicant... OMIM:619512
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Lacrimal duct stenosis, Sensorineural hearing impairment OMIM:609057
Leopard Syndrome 1
Low-set ears, Cryptorchidism, Micropenis, Sensorineural hearing impairment, Ptosis, Aplasia of th... OMIM:151100
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Increased serum testosterone level, Miscarriage, Congenital adre... ORPHA:96181
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Ataxia, Macrotia, Thickened helices OMIM:614104
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Sanjad-Sakati Syndrome
Cryptorchidism, Astigmatism, Corneal opacity, Hypoplasia of penis, Severe intrauterine growth ret... ORPHA:2323
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Abnormal anterior chamber morphology, Iridodonesis, Hypoplasia of the iris, Senso... ORPHA:2479
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Megalocornea-Mental Retardation Syndrome
Primary hypothyroidism, Cupped ear, Iridodonesis, Hypoplasia of the iris, Microcephaly, Downslant... OMIM:249310
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Abnormal salivary gland morphology, Decreased body weight, Weight loss, Po... ORPHA:2298
Congenital Pancreatic Cyst
Abdominal pain, Abdominal distention, Anorexia, Vomiting ORPHA:313906
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Cerebellar edema, Sei... ORPHA:363558
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Hypoplasia of the corpus callosum, Intrauterine growth retardation, Low-set e... OMIM:300966
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Cryptorchidism, Hearing impairme... OMIM:618143
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Bilateral Polymicrogyria
Cerebellar atrophy, Central hypothyroidism, Generalized-onset seizure, Low-set ears, Sensorineura... ORPHA:268940
Alazami Syndrome
Stereotypical hand wringing, Low-set ears, Motor stereotypy ORPHA:319671
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Upslanted palpebral fissure, Hypothyroidism, Chordee, Failure to thrive in infancy, Cryptorchidis... ORPHA:268261
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Obesity, Downslanted palpebral fissures, Mild neurosensory hearing imp... ORPHA:777
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Focal-onset seizure, Growth delay, Bilateral tonic-clonic sei... OMIM:614483
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Chorioretinal degeneration, Sensorineural hearing impairment, Ante... ORPHA:1435
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Atonic seizure, Micropenis, Generalized clonic seizure, Focal-onset seizure, ... ORPHA:1934
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
Lacrimal duct stenosis, Sensorineural hearing impairment OMIM:601351
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Episodic Ataxia, Type 5
Atypical absence seizure, Vertigo, Typical absence seizure, Febrile seizure (wit