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Gene: Lhfpl2 MGI:2145236

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lipoma HMGIC fusion partner-like 2
Synonyms:
vgim

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lhfpl2 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 Lhfpl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Vaginal atr... OMIM:605231
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Renal Hypodysplasia/Aplasia 1
Hypertelorism, Primary amenorrhea, Bicornuate uterus, Low-set ears, Vaginal atresia OMIM:191830
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microtia, Iris colob... ORPHA:3301
Meckel Syndrome 12
Antecubital pterygium, Hypoplasia of the uterus, Vaginal atresia, Low-set ears, Bifid uvula OMIM:616258
Donnai-Barrow Syndrome
Retinal detachment, Posteriorly rotated ears, Intestinal malrotation, Retinal dystrophy, Hypertel... ORPHA:2143
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia OMIM:617914
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Bardet-Biedl Syndrome 12
Hypogonadism, Rod-cone dystrophy, Hydrometrocolpos, Vaginal atresia OMIM:615989
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Bardet-Biedl Syndrome 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Cataract, Aganglio... OMIM:209900
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertelorism, Cryptorchidism, Pancreatic lymphangiectasis, High palate, Abnormality of the uteru... ORPHA:1655
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... OMIM:617565
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula, Sensorineural hearing impairment ORPHA:2597
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Hypoplastic labia majora, Proptosis, Vaginal atresia, Fused labia minora OMIM:207410
Tetralogy Of Fallot
Cryptorchidism, Proptosis ORPHA:3303
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Hearing impairment, Aplasia/hypoplasia of the uterus ORPHA:2578
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Cleft palate, Parathyroid hypoplasia, Aplas... ORPHA:2237
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Ect... ORPHA:1643
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis, Vaginal atresia, Hypertelorism OMIM:248450
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ... OMIM:236700
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618117
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate OMIM:615524
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... OMIM:614129
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hypospadias, Cryptorchidism, Developmental cataract, EEG abnormality, Micropenis OMIM:618815
Filippi Syndrome
Cryptorchidism, Optic atrophy, Proptosis, Dystonia, Ambiguous genitalia OMIM:272440
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar... OMIM:615300
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:617690
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Caudal Duplication
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys, Inte... ORPHA:1756
Apert Syndrome
Hypertelorism, Cryptorchidism, Esophageal atresia, Pyloric stenosis, Cleft palate, Narrow palate,... OMIM:101200
Renal Agenesis
Absent vas deferens, Anal atresia, Aplasia/hypoplasia of the uterus ORPHA:411709
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Proptosis, Hypoplastic female external genitalia, Hypertelorism OMIM:618577
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Conductive hearing impair... OMIM:601076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Seckel Syndrome 7
Hypoplasia of the uterus, Microtia, Primary amenorrhea, Hypotelorism OMIM:614851
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Hypospadias, Abnormal pinna morphology, Corne... OMIM:219000
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia, Hypertelorism, EEG abnormality ORPHA:3173
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Fraser Syndrome
Hypoplasia of penis, Small scrotum, High palate, Conductive hearing impairment, Encephalocele, Lo... ORPHA:2052
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Posteriorly rotated ears, Intestinal malrotation, Retinal dystrophy... OMIM:222448
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Hypertelorism, Non-obstructive azoospermia, C... ORPHA:432
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... ORPHA:456328
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Cleft palate, Low-set ears... OMIM:273395
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Sensorineural hearing impairment, Uterus didelphys, Primary a... OMIM:146255
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Camptobrachydactyly
Septate vagina ORPHA:1319
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, Papillary... ORPHA:93111
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Retinopathy OMIM:616171
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... OMIM:110100
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Protruding ear, Hypoplasia of the uterus, Primary amenorrhea, Abnormal vagina morph... ORPHA:247768
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Omodysplasia 2
Dyspareunia, Hypospadias, Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Uterus didelph... OMIM:164745
Optic Pathway Glioma
Precocious puberty, Papilledema, Proptosis, Optic atrophy ORPHA:2086
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Camptobrachydactyly
Septate vagina OMIM:114150
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Protruding ear, Abnormal testis morphology, Hearing impairment ORPHA:317
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Lumbar Syndrome
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... ORPHA:83628
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertelorism, Cryptorchidism, Proptosis, Low-set ears, Umbilical hernia ORPHA:352490
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Hypertelorism, Large fleshy ears, Bicornuate uterus, Proptosis, Low-set... OMIM:263210
Periventricular Nodular Heterotopia 7
Optic disc pallor, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, Cleft palate,... OMIM:617201
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Hypertelorism OMIM:266810
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia OMIM:193670
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Hypertelorism, Proptosis, High palate, Low-... OMIM:239710
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Hearing impairment, Increased circulating gonadotr... ORPHA:243
Teebi Hypertelorism Syndrome 2
Hypospadias, Hypertelorism, Cleft palate, Proptosis, High palate, Hearing impairment OMIM:619736
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea, Malabsorption OMIM:600705
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size ORPHA:1867
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Cleft palate, Proptosis, Low-set ears, Abn... ORPHA:1790
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Cleft palate, Sex re... OMIM:154230
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Isosexual precocious puberty, Abnormal vitreous humor morpho... ORPHA:2788
Zellweger Syndrome
Cataract, Hypospadias, Corneal opacity, Abnormal chorioretinal morphology, Malabsorption, Externa... ORPHA:912
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Peters anomaly, Cleft palate, Hypoplasia of the u... OMIM:309801
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Non-Syndromic Bicoronal Craniosynostosis
Hypertelorism, Proptosis, Hearing impairment ORPHA:35099
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Distal Deletion 9P
Low-set, posteriorly rotated ears, Hypospadias, Hypertelorism, High, narrow palate, Aplasia/Hypop... ORPHA:1642
Cherubism
Proptosis, Optic atrophy ORPHA:184
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Deeply set eye ORPHA:496790
Waardenburg Syndrome, Type 1
Spina bifida, Hypertelorism, Congenital sensorineural hearing impairment, Myelomeningocele, Blue ... OMIM:193500
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix, Spina bi... OMIM:617466
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Crouzon Syndrome
Hypertelorism, Keratitis, Optic atrophy, Proptosis, High palate, Atresia of the external auditory... OMIM:123500
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B... ORPHA:1473
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Hydrometrocolpos, Vaginal atresia, Aplasia of the epiglottis OMIM:617088
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Posteriorly rotated ears, Corneal opacity, Cho... ORPHA:899
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Proptosis, Corneal opacity ORPHA:2370
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cataract, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine le... ORPHA:523
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Tyshchenko Syndrome
Posteriorly rotated ears, Supernumerary nipple, Cryptorchidism, High, narrow palate, Narrow palat... OMIM:615102
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Propto... ORPHA:370348
Waardenburg Syndrome
Intestinal obstruction, Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Myelomeningocele,... ORPHA:3440
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ritscher-Schinzel Syndrome 4
Hypertelorism, Cryptorchidism, Narrow palate, Hypotelorism, Athetosis, Deeply set eye, Proptosis,... OMIM:619435
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Rectourethral fistula, Epispadias, Coronal hypospadia... ORPHA:237
Kleeblattschaedel
Proptosis, Recurrent corneal erosions OMIM:148800
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma OMIM:308100
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Donohue Syndrome
Precocious puberty, Long penis, Ovarian cyst, Proptosis, Low-set ears, Macrotia, Clitoral hypertr... OMIM:246200
Gómez-López-Hernández Syndrome
Corneal opacity, Low-set ears, Hypertelorism ORPHA:1532
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Hypertelorism, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Optic atrophy, ... ORPHA:1555
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypotelorism, Deeply set eye, Hypoplasia... ORPHA:649
3Mc Syndrome 3
Bifid scrotum, Abnormal pinna morphology, Corneal opacity, Hypertelorism, Cryptorchidism, Cleft p... OMIM:248340
Microcephaly 5, Primary, Autosomal Recessive
Proptosis, Hearing impairment OMIM:608716
Pontocerebellar Hypoplasia Type 10
Proptosis, Optic atrophy ORPHA:411493
Prune Belly Syndrome
Intestinal malrotation, Cryptorchidism, Decreased fertility, Abnormality of the uterus, Anal atre... ORPHA:2970
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Micr... ORPHA:139471
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Anal atresia, Simple ear OMIM:619318
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, Ect... ORPHA:2473
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Intestinal malrotation, Spina bifida, Hypertelorism, Crypto... ORPHA:99776
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Sensorineural hearing impairment, Proptosis, Cryptorchidism OMIM:615381
Orofaciodigital Syndrome Type 4
Microtia, third degree, Monorchism, Posteriorly rotated ears, Hypertelorism, High, narrow palate,... ORPHA:2753
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Mi... ORPHA:2409
Multiple Synostoses Syndrome 3
Proptosis, Cleft palate OMIM:612961
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Beaulieu-Boycott-Innes Syndrome
Deeply set eye, Velopharyngeal insufficiency, Premature ovarian insufficiency, Endometriosis OMIM:613680
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Hypertelorism, Bicornuate uterus, Shawl scrotum OMIM:145420
Pontocerebellar Hypoplasia, Type 3
Optic disc pallor, High, narrow palate, Optic atrophy, Proptosis, High palate, Low-set ears, Macr... OMIM:608027
Mucolipidosis Iv
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration OMIM:252650
Stickler Syndrome Type 1
Retinal detachment, Cataract, Sensorineural hearing impairment, Abnormal vitreous humor morpholog... ORPHA:90653
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Tetralogy Of Fallot
Proptosis OMIM:187500
Lethal Osteosclerotic Bone Dysplasia
Proptosis, Posteriorly rotated ears, Low-set ears, Median cleft lip and palate ORPHA:1832
Dermoids Of Cornea
Corneal opacity OMIM:304730
Vitamin K Antagonist Embryofetopathy
Cataract, Hypertelorism, Myelomeningocele, Optic atrophy, Macroglossia, Microtia, Proptosis, Hear... ORPHA:1914
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Hypertelorism, Cryptorchidism, ... ORPHA:2789
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus, Hiatus hernia OMIM:606408
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Tracheoesophageal fistula, Furrowed tongue, Abnormal morphology of f... ORPHA:1839
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Hyperteloris... ORPHA:284160
Fryns Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Hy... ORPHA:2059
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Wagro Syndrome
Cataract, Corneal opacity, Low-set ears, Aniridia, Hypoplastic female external genitalia, Decreas... OMIM:612469
Bartsocas-Papas Syndrome
Corneal opacity, Cleft palate, Popliteal pterygium, Hypoplastic male external genitalia, Ambiguou... ORPHA:1234
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Hypertelorism, Abnormal reproductive system morphology, Bifid uterus, Verti... ORPHA:1521
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Narrow palate, Protruding ear, Proptosis, Macrotia OMIM:617481
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Proptosis, Hypospadias, Low-set ears ORPHA:2522
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Proptosis, Low-set ears OMIM:617895
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
19P13.12 Microdeletion Syndrome
Hypospadias, Hypertelorism, Precocious puberty, Cryptorchidism, External ear malformation, Sensor... ORPHA:254346
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Cyclopia, Cryptorchidism, Hypotelorism, Bicornuate uteru... OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, R... OMIM:236670
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Hypertelorism, Cryptorchidism, Microcornea, Opacification of the corn... OMIM:601499
Sanjad-Sakati Syndrome
Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Intestinal obstructio... ORPHA:2323
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Winchester Syndrome
Corneal opacity OMIM:277950
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Low-set ears, Anal at... OMIM:300707
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Apert Syndrome
Hypertelorism, Esophageal atresia, Sensorineural hearing impairment, Corneal erosion, Optic atrop... ORPHA:87
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Malabsorption, Sensorineural hearing impairment, Abnormal vagin... ORPHA:2315
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Hypertelorism, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Cleft palate, P... OMIM:214110
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Hypertelorism, E... ORPHA:59315
Cystic Fibrosis
Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Steatorrhea, Hearing impairment ORPHA:586
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Esophageal stricture, Corneal erosion ORPHA:79409
Hand-Foot-Genital Syndrome
Microtia, Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Optic nerve hypoplasia, Posteriorly rotated ears, Hypertelorism, Corneal opacity, Cr... OMIM:301056
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hypertelorism, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus, Anal atresia OMIM:271520
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Sialidosis Type 2
Corneal opacity, Tremor, Umbilical hernia, Abnormal macular morphology, Hearing impairment ORPHA:87876
Chand Syndrome
Bifid tongue, Imperforate hymen, Cleft palate, Hypertelorism ORPHA:1401
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Deeply set eye, Dystonia OMIM:617183
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Hypertelorism, Optic atrophy, Narrow palate... OMIM:123790
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis, Cataract ORPHA:85172
Neu-Laxova Syndrome
Cataract, External genital hypoplasia, Spina bifida, Hypertelorism, Submucous cleft hard palate, ... ORPHA:2671
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Abnormal pinna morphology, Hamartoma of tongue, Septate vagina, Esophageal di... OMIM:617925
Silver-Russell Syndrome
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Hypospadias, Precociou... ORPHA:813
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Cleft soft palate, Hypertelorism, Cryptorchidism, Sensorineural hearing... OMIM:616331
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Crouzon Syndrome
Hypertelorism, Optic atrophy, Narrow palate, Proptosis, Conjunctivitis, Conductive hearing impair... ORPHA:207
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Intellectual Developmental Disorder, Autosomal Dominant 26
Umbilical hernia, Proptosis, Low-set ears, Hypertelorism OMIM:615834
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Encephalocele, Hypospadias, Posteriorly rotated ears, H... ORPHA:2211
Ogden Syndrome
Torticollis, Cryptorchidism, High, narrow palate, Proptosis, Low-set ears, Macrotia ORPHA:276432
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Oculocerebrocutaneous Syndrome
Corneal opacity, Hypertelorism, External ear malformation, Cryptorchidism, Iris coloboma, Hearing... ORPHA:1647
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Hypertelorism, Cryptorchidism, Uterus ... OMIM:618820
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Cryptorchidism, Cleft palate, Spinal dysraphism, Microtia, Mic... ORPHA:1926
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Sensorin... ORPHA:478
Currarino Syndrome
Anal stenosis, Septate vagina, Perianal abscess, Bicornuate uterus, Rectovaginal fistula, Anal fi... OMIM:176450
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
20Q11.2 Microduplication Syndrome
Bifid scrotum, Low-set, posteriorly rotated ears, Cryptorchidism, Thickened ears, Microtia, Propt... ORPHA:363659
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Sclerocornea, Cryptorchidism, Esophageal atresia, Tracheoesopha... ORPHA:77298
Cherubism
Macular scar, Optic neuropathy, Narrow palate, Proptosis, Marcus Gunn pupil OMIM:118400
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Cryptorchidism, Cleft palate, Developmental cataract, Pr... ORPHA:1865
Chronic Mucocutaneous Candidiasis
Dyspareunia, Abnormal vagina morphology ORPHA:1334
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, Cleft pa... OMIM:614230
Fanconi Anemia
High palate, Abnormality of the uterus, Hypospadias, Spina bifida, Hypertelorism, Aplasia/Hypopla... ORPHA:84
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Proptosis, Rod-cone dystrophy, Hypsarrhythmia OMIM:617276
H Syndrome
Malabsorption, Amenorrhea, Azoospermia, Corneal arcus, Proptosis, Hypogonadism, Micropenis, Decre... ORPHA:168569
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormality of the uterus,... ORPHA:2470
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Hypertelorism, Sensorineural hearing impairm... OMIM:109120
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Velopharyngeal insufficiency, Deeply... ORPHA:363444
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Retinal dysplasia, Abnormal fallopia... ORPHA:2556
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... OMIM:619260
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus, Hypertelorism ORPHA:457284
Mucolipidosis Type Iii
Corneal opacity, Cleft palate ORPHA:577
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Decreased scrotal rugation, Hypertelorism, Promin... ORPHA:261311
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Supernumerary nipple, Cleft palate, Conjunctivitis, Atresia of the external auditory... OMIM:106260
Mosaic Trisomy 8
Abnormal pinna morphology, Corneal opacity, Hypertelorism, Cryptorchidism, Cleft palate, Protrudi... ORPHA:96061
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Hypertelorism, Optic ... OMIM:218600
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Tremor, Abnormal retinal vascular morphology, Optic atroph... ORPHA:354
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormal conjunctiva m... ORPHA:3339
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impairment, Ocular albinism, Ath... ORPHA:2719
Meier-Gorlin Syndrome 7
Anal stenosis, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Cleft palate, Duode... OMIM:617063
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertelorism, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, Proptosis, Protein-losi... OMIM:235255
Alpha-Mannosidosis
Cataract, Corneal opacity, Hypertelorism, Narrow palate, Macroglossia, Abnormal helix morphology,... ORPHA:61
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Cornelia De Lange Syndrome 1
Hypospadias, Hiatus hernia, Malrotation of colon, Cryptorchidism, High, narrow palate, Pyloric st... OMIM:122470
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Cleft palate, Glossoptosis,... OMIM:611209
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Tremor, Cryptorchidism, Optic atrophy, Deeply set ... ORPHA:90321
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... OMIM:610644
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Hypophosphatasia, Childhood
Proptosis OMIM:241510
Campomelic Dysplasia
Hypertelorism, Male pseudohermaphroditism, Cleft palate, Proptosis, Low-set ears, Ambiguous genit... ORPHA:140
Frontoocular Syndrome
Posteriorly rotated ears, Hypotelorism, Proptosis, High palate, Low-set ears OMIM:605321
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele, Optic atrophy, Agonadism, Abnormality of the uterus, Am... ORPHA:991
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Sialidosis Type 1
Cataract, Corneal opacity, Decreased nerve conduction velocity, Tremor, Sensorineural hearing imp... ORPHA:812
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
EEG abnormality, Proptosis, Optic atrophy, Large earlobe OMIM:618346
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Hearing impairment, Non-obstructive azoospermia, Cr... ORPHA:2232
Renal Agenesis, Bilateral
Hypertelorism, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morpholog... ORPHA:1848
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Posteriorly rotated ears, Cryptorchidism, Cleft palate, Hypotelorism, Proptosis, C... ORPHA:2215
Acrocardiofacial Syndrome
Hypoplasia of penis, Hypospadias, Hypertelorism, Cryptorchidism, Cleft palate, Proptosis, Low-set... ORPHA:2008
Morquio Syndrome C
Corneal opacity OMIM:252300
Myoectodermal Gonadal Dysgenesis Syndrome
Posteriorly rotated ears, Elevated circulating luteinizing hormone level, Pyloric stenosis, Senso... OMIM:618419
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Hypertelorism, Optic atrophy, Hypsarrhythmia, Proptosis OMIM:618437
Chops Syndrome
Cataract, Hypertelorism, Cryptorchidism, High, narrow palate, Optic atrophy, Proptosis, Thickened... OMIM:616368
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Exstrophy-Epispadias Complex
Bifid scrotum, Anal stenosis, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, ... ORPHA:322
Bartsocas-Papas Syndrome 1
Anal stenosis, Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypertelorism, Cup... OMIM:263650
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, U... ORPHA:958
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Hypoplasia of th... OMIM:615866
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Proptosis, Corneal opacity, Hypertelorism OMIM:618961
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Pyloric... OMIM:181450
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Retinal dystrophy, Bicornuate uterus, Labial hypoplasia, Macular dystrophy,... ORPHA:140952
Multicentric Carpotarsal Osteolysis Syndrome
Proptosis, Corneal opacity OMIM:166300
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
De Barsy Syndrome
Cataract, Corneal opacity, Hypertelorism, Cryptorchidism, Large earlobe, Athetosis, Deeply set ey... ORPHA:2962
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Posteriorly rotated ears, Hypertelorism, Cryptorchi... ORPHA:2745
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Abnormal chorioretinal morphology, True hermaph... ORPHA:564
Muenke Syndrome
Hypertelorism, Sensorineural hearing impairment, Proptosis, High palate, Hearing impairment OMIM:602849
Trisomy 12P
Supernumerary nipple, Hypertelorism, Cleft palate, Aplasia/Hypoplasia of the iris, Abnormal antih... ORPHA:1699
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Hypertelorism, Hypotelorism, Proptosis, High palate, Astigmatism, Low-s... OMIM:613174
Acrofacial Dysostosis, Rodríguez Type
Microtia, Abnormality of the uterus ORPHA:1788
Cutis Laxa, Autosomal Recessive, Type Iie
Proptosis, High palate, Hearing impairment OMIM:619451
Robinow Syndrome, Autosomal Dominant 3
Hypertelorism, Cryptorchidism, Cleft palate, Anteriorly placed anus, Clitoral hypoplasia, Proptos... OMIM:616894
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypospadias, Posteriorly rotated ears, Hypertelorism, Cryptorchidis... OMIM:619522
Meckel Syndrome 14
Occipital encephalocele, Hypertelorism, Low-set ears, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Pyloric stenosis, Decreased fertility, Ectopic anus, Breast ... ORPHA:3138
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Proptosis, Optic atrophy, Hypertelorism ORPHA:93262
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Cryptorchidism, Hypoplas... ORPHA:495875
Cockayne Syndrome A
Cataract, Abnormal pinna morphology, Retinal atrophy, Abnormal auditory evoked potentials, Decrea... OMIM:216400
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cryptorchidism, Deeply set eye, High palate, Spina bifida oc... OMIM:193700
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Intestinal malrotation, Supernumerary nipple, Hypertelorism, Precocious... OMIM:615485
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Protruding ear, Ovarian cyst, Aplasia of the vagina, High palate, Bilateral senso... OMIM:614527
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Small scrotum, Posteriorly rotated ears, Anterior pituitary hypoplasia, Hype... ORPHA:264200
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Posteriorly rotated ears, Septate vagina, Asymmetry of the ears,... OMIM:300166
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Houge-Janssens Syndrome 3
Hypertelorism, Proptosis, High palate, Umbilical hernia, Megalocornea OMIM:618354
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:290
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hypertelorism, Penile hypospadias, Proptosis, Shallow orbits ORPHA:73230
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal malrotat... OMIM:229850
Roberts Syndrome
Cataract, Hypertelorism, External ear malformation, Cryptorchidism, Long penis, Cleft palate, Pro... ORPHA:3103
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal opacity, Corneal erosion, Umbilical hernia, Microtia, Atresia of the... ORPHA:920
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High palate, Microp... ORPHA:284339
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micropenis, Bifid uvula, Penoscrotal hypospadias, Hypospadias, Sept... OMIM:270400
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Sensorineu... OMIM:602782
Microhydranencephaly
Hydranencephaly, Athetosis, Macrotia, Proptosis OMIM:605013
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Protruding tongue, Hypertelor... OMIM:214100
Spinocerebellar Ataxia Type 3
Proptosis, Dystonia ORPHA:98757
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Meningocele, Tracheoesophageal fistula,... ORPHA:2879
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Alg9-Cdg
Low-set, posteriorly rotated ears, Villous atrophy, Torticollis, Hypertelorism, Large fleshy ears... ORPHA:79328
Moebius Syndrome
Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Facial palsy, Corneal opacity, C... ORPHA:570
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to growth hormone stim... OMIM:129900
Robinow Syndrome
Mixed hearing impairment, Small scrotum, Posteriorly rotated ears, External genital hypoplasia, H... ORPHA:97360
Adams-Oliver Syndrome 1
Encephalocele, Cleft palate, Imperforate hymen, Supernumerary nipple OMIM:100300
Shprintzen-Goldberg Craniosynostosis Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Hypertelorism, Cryptorchidism, Narrow palate... OMIM:182212
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypertelorism, Hypoplastic labia minora, Splenopancreatic fusion, Hyp... OMIM:269150
Frias Syndrome
Cupped ear, Posteriorly rotated ears, Proptosis, Hypertelorism OMIM:609640
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, External genital hypoplasia, Hypertelorism, Op... ORPHA:141099
Limb-Mammary Syndrome
Absent nipple, Chronic irritative conjunctivitis, Cleft hard palate, Cleft palate, Protruding ear... ORPHA:69085
Elsahy-Waters Syndrome
Bifid scrotum, Anal stenosis, Cataract, Hypospadias, Posteriorly rotated ears, Hypertelorism, Bil... OMIM:211380
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Cleft palate, Sensorineural hearing impairment, Aplasia of the... ORPHA:3320
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Vaginal neopl... ORPHA:1052
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Juvenile Nasopharyngeal Angiofibroma
Proptosis, Juvenile colonic polyposis ORPHA:289596
Neu-Laxova Syndrome 1
Cataract, Spina bifida, Bifid uterus, Hypertelorism, Cryptorchidism, Cleft palate, Proptosis, Sho... OMIM:256520
Otospondylomegaepiphyseal Dysplasia
Retinal detachment, Cataract, Posteriorly rotated ears, Sensorineural hearing impairment, Cleft p... ORPHA:1427
Kniest Dysplasia
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Rhegmatogenous retinal detachment, ... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity OMIM:613153
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Hypertelorism OMIM:612247
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Hypospadias, Posteriorly rotated ears, Hearing im... ORPHA:3107
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis, Cleft palate, Hearing impairment OMIM:614078
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Low-set ears, Ocu... OMIM:615145
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Anteriorly placed anus, Conductive hearing impa... OMIM:201750
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Proptosis, High palate OMIM:615803
Carpenter Syndrome 1
Abnormal pinna morphology, External genital hypoplasia, Precocious puberty, Cryptorchidism, Senso... OMIM:201000
Short Syndrome
Posterior embryotoxon, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Sensorineural h... ORPHA:3163
Fanconi Anemia, Complementation Group L
Hypertelorism, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anotia, Microtia, Apl... OMIM:614083
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Retinal detachment, Hypospadias, Corneal opacity, Cryptorchidism, Protruding e... ORPHA:464311
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus, Low-set ears OMIM:601186
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Protruding tongue, Cherry red spot of the mac... ORPHA:93400
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Low-set, posteriorly rotated ears, H... ORPHA:887
Specc1L-Related Hypertelorism Syndrome
Hypertelorism, Cryptorchidism, Proptosis, Low-set ears, Shawl scrotum, Abnormal helix morphology,... ORPHA:1519
Marshall Syndrome
Retinal detachment, Cataract, Hypertelorism, Ectopia lentis, Sensorineural hearing impairment, Ab... ORPHA:560
Kniest Dysplasia
Retinal detachment, Cataract, Cleft palate, Proptosis, Conductive hearing impairment, Umbilical h... OMIM:156550
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, High palate, Abnormal auditory evoked potentials OMIM:617523
Ciliary Dyskinesia, Primary, 37
Female infertility, Hearing impairment, Goiter OMIM:617577
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Holoprosencephaly 11
Proptosis, Cleft palate, Hypotelorism OMIM:614226
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Corneal opacity OMIM:163200
2Q31.1 Microdeletion Syndrome
Hypertelorism, Cryptorchidism, Optic disc coloboma, Cleft palate, Proptosis, Low-set ears, Iris c... ORPHA:251014
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... ORPHA:949
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Hypospadias, Aganglionic megaco... ORPHA:818
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Umbilical hern... OMIM:614170
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, Hypertelorism,... ORPHA:171929
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Hyperostosis Cranialis Interna
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Proptosis, Tinnitus OMIM:144755
Townes-Brocks Syndrome 1
Bifid scrotum, Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Hypospa... OMIM:107480
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Hypertelorism, Cryptorchidism, Cupped ear, Cleft palate, EEG ... ORPHA:3063
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Attenuation of retinal blood vessels, Hypos... ORPHA:468631
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Proptosis OMIM:606893
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Hypertelorism, Brushfield spots, Cryptorchidism, Sensorineural hearing imp... OMIM:614866
Shprintzen-Goldberg Syndrome
Posteriorly rotated ears, Hypertelorism, Cryptorchidism, High, narrow palate, Protruding ear, Pro... ORPHA:2462
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to grow... OMIM:604292
Thanatophoric Dysplasia Type 2
Encephalocele, Proptosis, Hearing impairment ORPHA:93274
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Pallister-Hall Syndrome
Small scrotum, Gonadotropin deficiency, Micropenis, Bifid uvula, Aplasia/hypoplasia of the uterus... ORPHA:672
Peters Plus Syndrome
Microcornea, Clitoral hypoplasia, Conductive hearing impairment, Spina bifida occulta, Iris colob... ORPHA:709
Branchioskeletogenital Syndrome
Attached earlobe, Mixed hearing impairment, Absent nipple, Unilateral cleft palate, Absent extern... ORPHA:1299
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Agenesis of pineal gland, Corneal opacity, Optic nerve hypopla... ORPHA:536471
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Low-set, posteriorly rotated ears, Hypertelorism, Meningocele, Anencephaly, Cleft ... ORPHA:1908
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Posteriorly rotated ears, Hypertelorism, Keratitis, Microtia, Conjunctivitis OMIM:602562
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... OMIM:206900
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Proptosis ORPHA:1425
Distal Deletion 10Q
Abnormal morphology of the vestibule of the inner ear, Congenital sensorineural hearing impairmen... ORPHA:96148
Developmental And Epileptic Encephalopathy 80
Optic disc pallor, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Protrud... OMIM:618580
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Corneal opacity, Cryptorchidism, P... ORPHA:464306
Wyburn-Mason Syndrome
Hearing impairment, Retinal vascular malformation, Proptosis, Tinnitus, Iris hypopigmentation ORPHA:53719
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Acrorenal-Mandibular Syndrome
Absent nipple, Posteriorly rotated ears, Uterus didelphys, Narrow palate, Bicornuate uterus, High... OMIM:200980
Autosomal Recessive Robinow Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypertelorism, Cryptorchidism, Ectopic an... ORPHA:1507
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Protruding tongue, Cherry red spot of the macula, Optic atrophy, Low-s... ORPHA:93399
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Sclerocornea, Hypertelorism, Cryptorchidism, Opti... ORPHA:280
Cinca Syndrome
Progressive sensorineural hearing impairment, Papilledema, Proptosis, Hearing impairment OMIM:607115
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hypertelorism, Narrow palate, Microtia, Proptosis, Macrotia, Hearing impairment OMIM:620250
Thanatophoric Dysplasia
Proptosis, Low-set ears, Hearing impairment ORPHA:2655
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity ORPHA:93476
Toxic Epidermal Necrolysis
Malabsorption, Intestinal perforation, Corneal erosion, Tracheoesophageal fistula, Conjunctivitis... ORPHA:537
Noonan Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Hypertelorism, Aplasia of the s... ORPHA:648
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis OMIM:618821
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Hypertelor... ORPHA:2729
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Increased corneal thickness, Abnormal pinna morphology, Cryptorchidism,... ORPHA:2363
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Mucolipidosis Type Iv
Retinopathy, EEG abnormality, Corneal opacity, Abnormality of retinal pigmentation ORPHA:578
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... ORPHA:636
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Abnormal pinna morphology, Hypertelorism, Precocious puberty, Crypto... OMIM:194190
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae OMIM:615877
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Cinca Syndrome
Retrobulbar optic neuritis, Sensorineural hearing impairment, EEG abnormality, Pseudopapilledema,... ORPHA:1451
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Spina bifida occulta, Optic atrophy, Proptosis ORPHA:1185
Robinow Syndrome, Autosomal Recessive 1
Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Hypoplastic labia majora, Macroglossia, ... OMIM:268310
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Proptosis, Hearing impairment, Goiter OMIM:274300
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Decreased response to growth hormone stimulation test, Cryptorchidism, High, nar... ORPHA:488632
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Cleft palate, Polycystic ovaries, Megalocornea, Congenital aphakia ORPHA:137675
Roberts-Sc Phocomelia Syndrome
Cataract, Hypospadias, Enlarged labia minora, Posteriorly rotated ears, Abnormal pinna morphology... OMIM:268300
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... ORPHA:293603
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis ORPHA:157965
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Microsporidiosis
Keratitis, Abnormality of the parathyroid gland, Prostatitis, Abnormal endometrium morphology, Ke... ORPHA:2552
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... OMIM:601596
Atelosteogenesis, Type I
Encephalocele, Hypertelorism, Cryptorchidism, Cleft palate, Proptosis, Low-set ears OMIM:108720
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Cleft palate, Ectopic anus, Proptosis, Anal atresia, Hearing impairment ORPHA:85199
Hydrolethalus Syndrome 1
Hypospadias, Abnormal pinna morphology, Bifid uterus, Anencephaly, Cleft palate, Adrenal gland dy... OMIM:236680
Cenani-Lenz Syndrome
Cataract, Hypertelorism, High, narrow palate, Protruding ear, Proptosis, Hearing impairment ORPHA:3258
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, External ear ma... ORPHA:857
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Decreased response to growth hormone stimulation test, Posterior subcapsular cataract, Progressiv... OMIM:619234
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Athetosis, Abnormal cornea morphology, Dystonia, Hearing impairment ORPHA:357058
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Propto... OMIM:602482
Schinzel-Giedion Syndrome
Abnormality of the stapes, Streak ovary, Hypospadias, Aganglionic megacolon, Shallow orbits, Hype... ORPHA:798
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Bilateral cleft lip and palate, Popliteal pterygium, Low-... OMIM:619339
Loeys-Dietz Syndrome
Hypertelorism, High palate, Bifid uvula, Uterine rupture ORPHA:60030
Jackson-Weiss Syndrome
Proptosis, Hypertelorism ORPHA:1540
Muenke Syndrome
High, narrow palate, Sensorineural hearing impairment, Proptosis, Hypertelorism ORPHA:53271
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Conductive hearing impairment, Rod-... ORPHA:244
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Hypertelorism, Sensorineural hearing impairment, Pigmentary retinopathy... OMIM:612582
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Cleft palate, Sex reversal, Low-set ears, Adrenal gland agenesis OMIM:611812
Marshall-Smith Syndrome
Hypertelorism, Protruding tongue, Optic atrophy, Proptosis, Conductive hearing impairment ORPHA:561
Larsen Syndrome
Corneal opacity, Hypertelorism, Cryptorchidism, Cleft palate, Shallow orbits, Conductive hearing ... OMIM:150250
Bohring-Opitz Syndrome
Bilateral cleft palate, Posteriorly rotated ears, Intestinal malrotation, Supernumerary nipple, H... OMIM:605039
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, High, narrow palate, Protruding ear, Deeply set eye, High palate, Chorioretinal co... OMIM:619475
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Cleft palate, Microtia... ORPHA:163979
Meningioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Facial palsy, Reduced circu... ORPHA:2495
Neu-Laxova Syndrome 2
Cataract, Spina bifida, Hypertelorism, Cleft palate, Proptosis, High palate, Low-set ears OMIM:616038
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Osteoglophonic Dysplasia
Hypospadias, Hypertelorism, Cryptorchidism, Chordee, High palate, Proptosis, Low-set ears, Shallo... OMIM:166250
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Cleft palate, Proptosis, Low-set ears, Cyclopia ORPHA:2165
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:585
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Proptosis... OMIM:130650
Atelosteogenesis Type I
Hypertelorism, Malrotation of colon, Cleft palate, Proptosis, Retinal dysplasia, Low-set ears, Ab... ORPHA:1190
Sclerosteosis 1
Papilledema, Facial palsy, Hypertelorism, Optic atrophy, Irregular menstruation, Proptosis, Heari... OMIM:269500
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Premature ovarian insufficiency, Female infertility OMIM:619518
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Juvenile cataract, Abnormal auditory evoked potentials, Optic ... ORPHA:909
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypospadias, Optic atrophy, Proptosis, High palate, Chorioretinal coloboma OMIM:210730
Trichohepatoenteric Syndrome 1
Villous atrophy, Hypospadias, Hypertelorism, Large placenta, Microtia, Proptosis, Low-set ears, B... OMIM:222470
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Hypertelorism, Cryptorchidism, Cleft palate, High ... ORPHA:401973
Yunis-Varon Syndrome
Cataract, Hypospadias, Abnormal pinna morphology, Sclerocornea, Hypertelorism, Cryptorchidism, Hi... ORPHA:3472
Robinow Syndrome, Autosomal Dominant 1
Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Narrow palate, Hypoplastic labia majora,... OMIM:180700
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Stromme Syndrome
Cataract, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hypertelorism, Scleroc... OMIM:243605
Marshall-Smith Syndrome
Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Pyloric stenosis, Anteriorly pl... OMIM:602535
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Limbal dermoid, Sclerocornea OMIM:613001
Graves Disease, Susceptibility To, 1
Proptosis, Goiter OMIM:275000
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... ORPHA:1215
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Blepharospasm, Proptosis ORPHA:352582
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Cataract, Hearing impairment, Enlarged polycyst... ORPHA:201
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Sensorineural hearing impairment, Proptosis, Cleft palate ORPHA:440354
Pediatric-Onset Graves Disease
Tremor, Keratitis, Proptosis, Goiter ORPHA:525731
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Hypertelorism, Sensorineural hearing impairment, Hypermyelinated retinal nerve f... OMIM:601812
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Proptosis, Sensorineural hearing impairment OMIM:604804
Caffey Disease
Proptosis ORPHA:1310
Machado-Joseph Disease
Proptosis, Abnormal autonomic nervous system physiology, Dystonia OMIM:109150
Shashi-Pena Syndrome
Posteriorly rotated ears, Hypertelorism, Cupped ear, Proptosis, Low-set ears, Overfolded helix OMIM:617190
Dural Sinus Malformation
Papilledema, Pulsatile tinnitus, Myelopathy, Proptosis, Chemosis ORPHA:97339
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bilateral cryptorchidism, Hydrometrocolpos, Protruding ear, Deeply set eye, As... OMIM:150230
Erdheim-Chester Disease
Proptosis, Hypogonadotropic hypogonadism ORPHA:35687
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Spina bifida, Pancreatic cysts, Cleft palate, Aplasia of the uterus, M... OMIM:274000
Rubinstein-Taybi Syndrome 1
Cataract, Hypospadias, Premature thelarche, Spina bifida, Bilateral cryptorchidism, Cryptorchidis... OMIM:180849
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis OMIM:242500
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Cleft hard palate, Deeply set eye, Conductive hearing impairment... ORPHA:2152
Arboleda-Tham Syndrome
Posteriorly rotated ears, Intestinal malrotation, Bilateral cryptorchidism, Anteverted ears, Opti... OMIM:616268
Hurler Syndrome
Corneal opacity, Hypertelorism, Macroglossia, Opacification of the corneal stroma, Umbilical hern... OMIM:607014
Camurati-Engelmann Disease
Facial palsy, Optic atrophy, Proptosis, Hypogonadism, Optic nerve compression, Hearing impairment ORPHA:1328
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hypop... OMIM:600501
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Macroglossia ORPHA:309288
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anterior synechiae... ORPHA:96125
Desbuquois Dysplasia 1
Developmental glaucoma, Proptosis OMIM:251450
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... OMIM:130050
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hypertelorism, Tremor, High, narrow palate, Protruding ear, Deeply set eye, Proptosis, Low-set ea... OMIM:300966
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Posteriorly rotated ears, Protruding tongue, Hypertelorism, Cryptor... OMIM:612289
Catel-Manzke Syndrome
Hypertelorism, Cryptorchidism, Cleft palate, Glossoptosis, Proptosis, High palate, Low-set ears, ... OMIM:616145
Prolidase Deficiency
Hypertelorism, Proptosis, Abnormality of retinal pigmentation, Hearing impairment ORPHA:742
Lathosterolosis
Hypoplasia of penis, Cataract, Meningocele, Microcornea, High palate, Opacification of the cornea... ORPHA:46059
Chitayat Syndrome
Proptosis, Hypertelorism OMIM:617180
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Uplifted earlobe, Cleft hard palate, Deeply set eye, Webbed penis, Micropenis, Bif... ORPHA:261537
Keppen-Lubinsky Syndrome
Opisthotonus, Proptosis, High palate, Shallow orbits, Decreased testicular size ORPHA:435628
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Hearing impairment, Hypertelorism, Cryptorchidism... ORPHA:96121
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Uterus... ORPHA:93271
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Hypertelorism, Proptosis, High palate, Shallow orbits, Micrope... ORPHA:457359
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Intestinal malrotation, Hypertelorism, Cryp... OMIM:249000
Congenital Myopathy 22A, Classic
Deeply set eye, Proptosis, High palate OMIM:620351
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Uplifted earlobe, Cleft hard palate, Abnormal pupil morphology, Microcornea, Deepl... ORPHA:261552
Peters-Plus Syndrome
Hypoplasia of the vagina, Cataract, Hypospadias, Bilobate gallbladder, Posteriorly rotated ears, ... OMIM:261540
Johanson-Blizzard Syndrome
Colonic diverticula, Hypospadias, Urethrovaginal fistula, Septate vagina, Malabsorption, Cryptorc... OMIM:243800
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Pfeiffer Syndrome Type 1
Hypertelorism, Proptosis, High palate, Low-set ears, Hearing impairment ORPHA:93258
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Fetal Akinesia Deformation Sequence 1
Posteriorly rotated ears, Hypertelorism, Cryptorchidism, High, narrow palate, Cleft palate, Propt... OMIM:208150
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Sensorineural hearing impairmen... ORPHA:910
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Hypertelorism, Abnormality of cartilage of external ear, Cupped ear, L... ORPHA:2399
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Intestinal malrotation, Hypertelorism, Esophageal atresia, Tracheoesophageal fistula... OMIM:265380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Cataract, Hypospadias, Decreased res... ORPHA:444077
Prolidase Deficiency
Proptosis, High palate, Hypertelorism OMIM:170100
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Hypertelorism, Sensorineu... ORPHA:309282
Marfanoid-Progeroid-Lipodystrophy Syndrome
Ectopia lentis, High, narrow palate, Deeply set eye, Keratoconjunctivitis sicca, Proptosis, High ... OMIM:616914
Baller-Gerold Syndrome
Malabsorption, Hypertelorism, Cleft palate, Hypotelorism, Anteriorly placed anus, Proptosis, High... ORPHA:1225
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Hypertelorism, Cryptorchidism, Mild conductive hearing impairm... ORPHA:221120
Pfeiffer Syndrome Type 2
Intestinal malrotation, Hypertelorism, Cleft palate, Proptosis, High palate, Atresia of the exter... ORPHA:93259
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Posteriorly rotated ears, Velopharyngeal insufficiency, Cleft palate, Bico... OMIM:154400
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis ORPHA:2774
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Aplasia of the ... OMIM:618280
Cystinosis
Retinopathy, Corneal opacity, Malabsorption ORPHA:213
Jackson-Weiss Syndrome
Proptosis OMIM:123150
Degcags Syndrome
Hypospadias, Jejunal atresia, Hearing impairment, Protruding tongue, Hiatus hernia, Cryptorchidis... OMIM:619488
Pfeiffer Syndrome Type 3
Intestinal malrotation, Hypertelorism, Cleft palate, Proptosis, High palate, Low-set ears, Anal a... ORPHA:93260
Saul-Wilson Syndrome
Cataract, Sensorineural hearing impairment, Proptosis, Hearing impairment OMIM:618150
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Proptosis, Low-set ears, Megalocornea OMIM:228520
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Proptosis, Optic atrophy, Hypertelorism OMIM:614800
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Anal stenosis, Optic nerve hypoplasia, Proptosis, Low-set ears, Shallow orbits, Intention tremor OMIM:620029
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal ... ORPHA:534
Cole-Carpenter Syndrome 2
Proptosis, High palate, Hypertelorism OMIM:616294
Cardiofaciocutaneous Syndrome 1
Posteriorly rotated ears, Hypertelorism, Submucous cleft hard palate, Optic nerve dysplasia, Ante... OMIM:115150
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Irregular menstruation, Punctate opacification of the cornea, Macroglossia, Proptos... OMIM:256040
Oculoectodermal Syndrome
Supernumerary nipple, Chorioretinal atrophy, Pineal cyst, Microcornea, Proptosis, Astigmatism, Op... OMIM:600268
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Waldenström Macroglobulinemia
Malabsorption, Abnormal retinal vascular morphology, Multifocal epileptiform discharges, Retinal ... ORPHA:33226
Hennekam-Beemer Syndrome
Optic atrophy, Microtia, High palate, Proptosis, Conductive hearing impairment, Hearing impairment ORPHA:2135
Granulomatosis With Polyangiitis
Intestinal obstruction, Prostatitis, Sensorineural hearing impairment, Proptosis, Retinopathy ORPHA:900
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Proptosis, Cleft palate, Hypertelorism ORPHA:83
Restrictive Dermopathy 2
Rectal prolapse, Proptosis OMIM:619793
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Robinow Syndrome, Autosomal Recessive 2
Posteriorly rotated ears, Cleft soft palate, Hypertelorism, Proptosis, Low-set ears, Absent uvula OMIM:618529
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Cataract, Corneal opacity, Thickened helices, Malabsorption, Abnormalit... ORPHA:581
Whipple Disease
Proptosis, Erectile dysfunction, Malabsorption ORPHA:3452
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Proptosis, Posteriorly rotated ears, Low-set ears, Hypertelorism OMIM:613385
Beckwith-Wiedemann Syndrome
Otosclerosis, Cryptorchidism, Large placenta, Abnormal pancreas morphology, Pseudohypoparathyroid... ORPHA:116
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Proptosis, High palate, Breast aplasia, Hearing impairment ORPHA:90153
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Proptosis, Cleft palate, Sensorineural hearing impairment OMIM:215150
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Hypertelorism, H... OMIM:601853
Oculomaxillofacial Dysostosis
Corneal opacity, Cleft palate ORPHA:1794
Craniofaciofrontodigital Syndrome
Macroglossia, Proptosis, Pyloric stenosis, Hypertelorism ORPHA:363705
Thanatophoric Dysplasia Type 1
Proptosis, Hearing impairment ORPHA:1860
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Small earlobe... ORPHA:567
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypertelorism, Proptosis, Hearing impairment OMIM:156400
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Celiac disease, High, narrow palate, Increas... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Celiac disease, High, narrow palate, Increas... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Celiac disease, High, narrow palate, Increas... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Celiac disease, High, narrow palate, Increas... ORPHA:881
Melnick-Needles Syndrome
Hypertelorism, Proptosis, Hearing impairment ORPHA:2484
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Kindler Epidermolysis Bullosa
Corneal opacity, Phimosis, Esophageal stricture, Inflammation of the large intestine, Colitis, Co... ORPHA:2908
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Supernumerary n... ORPHA:464
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Coffin-Siris Syndrome 1
Hypospadias, Intestinal malrotation, Duodenal ulcer, Abnormal pinna morphology, Posteriorly rotat... OMIM:135900
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Proptosis, Narrow palate ORPHA:1323
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond... ORPHA:101085
Ogden Syndrome
Torticollis, Hypertelorism, Cryptorchidism, Narrow palate, Protruding ear, Hydrocele testis, Deep... OMIM:300855
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Focal Dermal Hypoplasia
Corneal opacity, Spina bifida, Ectopia lentis, Hypoplasia of the iris, Duodenal atresia, Low-set ... ORPHA:2092
Machado-Joseph Disease Type 1
Proptosis, Dystonia ORPHA:276238
Machado-Joseph Disease Type 2
Proptosis, Dystonia ORPHA:276241
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Hypertelorism, Astigmatism, Conductive hearing impairment, Umbilical hernia ORPHA:2095
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hypertelorism, Developmental glaucoma, Cleft palate, Microtia, Proptosis, Low-set ears, Prominent... OMIM:245600
Wiedemann-Rautenstrauch Syndrome
Cataract, Hypospadias, Posteriorly rotated ears, Hypertelorism, Cryptorchidism, Long penis, Hypot... OMIM:264090
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Corneal opacity, Opacification of the corneal stroma, Hearing impairment OMIM:253010
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Hypertelorism, Cryptorchidism, High, narrow palate, Cystocele, Aplasia/... ORPHA:286
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity ORPHA:93474
Marbach-Rustad Progeroid Syndrome
Shallow orbits, Proptosis, Intention tremor OMIM:619322
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Torticollis, Posteriorly rotated ears, Microcornea, Proptosis, Peripapi... ORPHA:536467
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Proptosis, Corneal opacity, Hypertelorism OMIM:259600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Optic nerve dysplasia, Anencephaly, Retinal dysplasia, Opacification of ... OMIM:615287
Machado-Joseph Disease Type 3
Proptosis, Dystonia ORPHA:276244
Farber Disease
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... ORPHA:333
Pycnodysostosis
Mild conductive hearing impairment, High palate, Decreased response to growth hormone stimulation... ORPHA:763
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Astigmatism, Opacification of the corneal stroma OMIM:242900
Dysostosis, Stanescu Type
Macroglossia, Proptosis, Hypertelorism ORPHA:1798
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Cleft palate, Ectopic anus, High palate, Low-set ears, Aniridia, Iris col... ORPHA:251038
Loeys-Dietz Syndrome 3
Cataract, Eosinophilic infiltration of the esophagus, Hypertelorism, Cystocele, Cleft palate, Pro... OMIM:613795
Loeys-Dietz Syndrome 5
Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus hernia, Hypertelorism, Clef... OMIM:615582
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration, Hearing impairment OMIM:272200
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Proptosis, Mydriasis OMIM:259720
Fibrochondrogenesis
Low-set ears, Proptosis, Cleft palate, Hypertelorism ORPHA:2021
Williams Syndrome
Hypoplasia of penis, Tremor, Rectal prolapse, Protruding ear, Megalocornea, Spina bifida occulta,... ORPHA:904
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Lathosterolosis
Cataract, Bilobate gallbladder, Myelomeningocele, High palate, Ambiguous genitalia, male, Opacifi... OMIM:607330
Mucopolysaccharidosis Type 1
Corneal opacity, Malabsorption, Sensorineural hearing impairment, Optic atrophy, Retinopathy, Hea... ORPHA:579
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Frank-Ter Haar Syndrome
Hypertelorism, Developmental glaucoma, Protruding ear, Buphthalmos, Proptosis, High palate, Low-s... OMIM:249420
Raine Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinna morphology, Protruding tongue,... OMIM:259775
Mosaic Trisomy 1
Abnormal pinna morphology, Cleft palate, Low-set ears, Opacification of the corneal stroma, Micro... ORPHA:1692
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Narrow palate, Anteriorly ... OMIM:276820
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Ret... OMIM:607932
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... ORPHA:1764
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Cleft ... ORPHA:790
Digeorge Syndrome
Parathyroid agenesis, Sclerocornea, Hypertelorism, High, narrow palate, Cleft palate, Parathyroid... OMIM:188400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Corneal opacity, Sensorineural hearing impairment, Esophageal varix, Azoospermia, Ga... ORPHA:2072
Mucopolysaccharidosis, Type Vii
Corneal opacity, Sensorineural hearing impairment, Macroglossia, Umbilical hernia, Hearing impair... OMIM:253220
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Retinal atrophy, Hypertelorism, Optic atrophy, Cleft palate, P... ORPHA:97297
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Low-set ears, Protruding ear OMIM:616603
Desbuquois Dysplasia 2
Proptosis, Bifid uvula, Cleft palate OMIM:615777
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Corneal opacity ORPHA:1830
Chronic Graft Versus Host Disease
Phimosis, Esophageal stricture, Xerostomia, Keratoconjunctivitis sicca, Recurrent corneal erosion... ORPHA:99921
Wiedemann-Rautenstrauch Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone stimul... ORPHA:3455
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Female hypogonadism, Corneal opacity, Prominent ... ORPHA:740
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Corneal opacity, Hypertelorism, Cleft palate, Microglossia, Hearing impairment ORPHA:364577
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis, High palate OMIM:608612
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Hurler Syndrome
Corneal opacity, Macroglossia, Abnormal nerve conduction velocity, Retinopathy, Hearing impairment ORPHA:93473
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrota... ORPHA:199
Pallister-Killian Syndrome
Small scrotum, Anteriorly placed anus, Bifid uvula, Hypospadias, Hypertelorism, Cryptorchidism, A... OMIM:601803
Pseudo-Torch Syndrome 1
Cataract, High palate, Low-set ears, Dystonia, Opacification of the corneal stroma, Umbilical hernia OMIM:251290
Craniosynostosis 4
Ectopic posterior pituitary, Proptosis, Optic nerve hypoplasia, Hypertelorism OMIM:600775
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Symblepharon, Conjunctival hyperemia, Intestinal perforation, Keratiti... ORPHA:95455
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Xerostomia, Keratoconjunctivitis, Opacification of the corneal str... ORPHA:2907
Hurler-Scheie Syndrome
Umbilical hernia, Corneal opacity OMIM:607015
Primary Sjögren Syndrome
Abnormality of the peripheral nervous system, Xerostomia, Keratoconjunctivitis sicca, Optic neuri... ORPHA:289390
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Decreased nerve ... ORPHA:580
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis, High palate ORPHA:85184
Congenital Myopathy 22B, Severe Fetal
Deeply set eye, Proptosis, High palate, Low-set ears OMIM:620369
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Stickler Syndrome
Retinal detachment, Cataract, Hypertelorism, Ectopia lentis, Sensorineural hearing impairment, Ab... ORPHA:828
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction ORPHA:206448
Localized Scleroderma
Deeply set eye, Proptosis, Esophagitis ORPHA:90289
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Posteriorly rotated ears, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal tra... ORPHA:2636
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Deeply set eye, Proptosis, Opisthotonus ORPHA:508533
Xylt1-Cdg
Proptosis, Cleft palate ORPHA:370930
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Hypertelorism, Athetosis, Corneal ulceration, Low-set ears, Decreased sensory ne... OMIM:615273
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Cole-Carpenter Syndrome 1
Proptosis, Shallow orbits OMIM:112240
17Q11 Microdeletion Syndrome
Hypertelorism, Precocious puberty, Gastrointestinal stroma tumor, Retinal vascular proliferation,... ORPHA:97685
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Proptosis, Abnormal intestine morphology ORPHA:228426
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Proptosis, Cleft palate OMIM:615349
Wilson Disease
Kayser-Fleischer ring, Abnormality of the menstrual cycle ORPHA:905
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system physiology, Re... OMIM:256800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Proptosis, Low-set ears, Hypertelorism ORPHA:457395
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Proptosis, Hand tremor, Thyroid hyperplasia ORPHA:424
Familial Gestational Hyperthyroidism
Goiter, Proptosis, Hand tremor, Thyroid hyperplasia ORPHA:99819
Rodrigues Blindness
Microcornea, Sclerocornea, Protruding ear OMIM:268320
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, He... OMIM:619727
Fucosidosis
Corneal opacity, Hearing impairment ORPHA:349
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Limb dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Dev... OMIM:175780
Congenital Myopathy 17
Low-set ears, Proptosis, High palate, Cleft palate OMIM:618975
Zygomycosis
Retinal detachment, Gastritis, Enterocolitis, Retinal arterial occlusion, Colitis, Ileitis, Propt... ORPHA:73263
Coffin-Lowry Syndrome
Hypertelorism, Rectal prolapse, Sensorineural hearing impairment, Narrow palate, Protruding ear, ... OMIM:303600
Lcat Deficiency
Corneal opacity ORPHA:650
Fish-Eye Disease
Corneal opacity ORPHA:79292
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal... ORPHA:529799
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cleft soft pal... OMIM:619503
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Enlargement of parotid gland, Keratoconjunctivitis sicca, P... ORPHA:79078
Mucopolysaccharidosis Type 7
Umbilical hernia, Corneal opacity ORPHA:584
Holoprosencephaly 3
Cleft palate, Hypotelorism, Proptosis, Cyclopia, Bifid uvula OMIM:142945
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Cervical insufficiency, Abnormal cornea ... ORPHA:287
Galloway-Mowat Syndrome 1
Cataract, Hiatus hernia, Hypertelorism, Optic atrophy, Hypoplasia of the iris, High palate, Low-s... OMIM:251300
Tyrosinemia Type 2
Tremor, Corneal opacity ORPHA:28378
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Underfolded helix, Posteriorly rotated ears, Protruding ear, Abnormal antitragus morphology, Prop... ORPHA:93315
Limb Body Wall Complex
Encephalocele, Corneal opacity, Spina bifida, Hypertelorism, Myelomeningocele, Anencephaly, Cleft... ORPHA:2369
Chime Syndrome
Corneal opacity, Hypertelorism, Cleft palate, Retinal coloboma, Hearing impairment ORPHA:3474
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Corneal opacity, Keratitis, Cryptorchidism, Corneal erosion, Astigmatism, ... ORPHA:2273
Mucopolysaccharidosis Type 4
Corneal opacity, Hearing impairment ORPHA:582
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ... ORPHA:217085
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Microtia, Proptosis, Low-set ears, Micropenis OMIM:210710
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal ... ORPHA:217093
Cole-Carpenter Syndrome
Proptosis ORPHA:2050
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Blomstrand Lethal Chondrodysplasia
Cataract, Proptosis, Low-set ears, Protruding tongue ORPHA:50945
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Malabsorption, Sensori... ORPHA:324
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Small earlobe, Cataract, Hypertelorism, Sclerocornea, Cryptorchidism,... OMIM:216340
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Posteriorly rotated ears, Corneal opacity, Hypertelorism, Senso... OMIM:608670
Mucopolysaccharidosis, Type Vi
Corneal opacity, Macroglossia, Cervical myelopathy, Umbilical hernia, Hearing impairment OMIM:253200
Liver Disease, Severe Congenital
Chronic gastritis, Hypospadias, Biliary hyperplasia, Hydrocele testis, Proptosis, Protein-losing ... OMIM:619991
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Posteriorly rotated ears, Hypertelorism, Proptosis, High palate, Low-set ears, Macrotia OMIM:617011
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Mullegama-Klein-Martinez Syndrome
Facial palsy, Sensorineural hearing impairment, Absent stapes, Cleft palate, Submucous cleft of s... OMIM:301022
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Precocious puberty, Cryptorchidism, Abnormality ... ORPHA:438213
Camurati-Engelmann Disease
Cranial nerve compression, Optic nerve compression, Proptosis, Hearing impairment OMIM:131300
Short Stature With Microcephaly And Distinctive Facies
Proptosis OMIM:615789
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Dyggve-Melchior-Clausen Disease
Corneal opacity, Hearing impairment ORPHA:239
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism OMIM:252600
Wilson Disease
Hypoparathyroidism, Dystonia, Decreased nerve conduction velocity, Tremor, Esophageal varix, Hand... OMIM:277900
Aneurysm-Osteoarthritis Syndrome
Hypertelorism, Cleft palate, High palate, Uterine prolapse, Umbilical hernia, Bifid uvula ORPHA:284984
Hyperthyroidism, Nonautoimmune
Goiter, Proptosis, Thyroid hyperplasia OMIM:609152
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Hypertelorism, Cleft palate, Bifid uvula, Proptosis, Low-set ears, Absent earlobe OMIM:130070
Tangier Disease
Facial diplegia, Opacification of the corneal stroma OMIM:205400
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Mandibuloacral Dysplasia With Type A Lipodystrophy
Proptosis, High palate OMIM:248370
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ... OMIM:256540
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Keppen-Lubinsky Syndrome
Shallow orbits, Proptosis, High palate, Opisthotonus OMIM:614098
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis ORPHA:90154
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft lip and pal... OMIM:157170
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Opacification of the corneal stroma, Cataract ORPHA:3453
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Proptosis, High palate, Cleft palate, Ectopia lentis OMIM:271640
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Proptosis OMIM:612301
Nestor-Guillermo Progeria Syndrome
Proptosis OMIM:614008
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Juvenile Xanthogranuloma
Proptosis, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Melnick-Needles Syndrome
Macrotia, Proptosis, Cleft palate, Hypertelorism OMIM:309350
Gaucher Disease
Corneal opacity, Tremor, Cherry red spot of the macula, Retinopathy, Abnormal macular morphology,... ORPHA:355
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Opacification of the corneal stroma, Hearing impairment OMIM:253000
Meester-Loeys Syndrome
Hypertelorism, Proptosis, High palate, Umbilical hernia, Bifid uvula OMIM:300989
Viss Syndrome
Chronic gastritis, High, narrow palate, Deeply set eye, High palate, Broad uvula, Bifid uvula, Cl... OMIM:619472
Mucoepithelial Dysplasia, Hereditary
Cataract, Keratoconjunctivitis, Furrowed tongue, Opacification of the corneal stroma, Corneal neo... OMIM:158310
Isolated Exencephaly
Low-set ears, Proptosis, Anterior pituitary hypoplasia, Posterior pituitary agenesis ORPHA:563612
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Encephalocraniocutaneous Lipomatosis
Retinopathy, Corneal opacity, Iris coloboma ORPHA:2396
Osteogenesis Imperfecta, Type Viii
Proptosis OMIM:610915
Mucopolysaccharidosis Type 6
Macroglossia, Opacification of the corneal stroma, Hearing impairment ORPHA:583
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Corneal opacity ORPHA:79396
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Ect... ORPHA:42775
Cutis Laxa, Autosomal Recessive, Type Ib
Abnormal pinna morphology, Hypertelorism, Proptosis, High palate, Low-set ears OMIM:614437
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Sclerocornea, High, narrow palate, Overfolded helix, Cleft palate, Prot... OMIM:600920
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Hypospadias, Keratitis, Cryptorchidism, Cleft palate, Recurrent corneal er... OMIM:308205
Stuve-Wiedemann Syndrome 1
Deeply set eye, Smooth tongue, Abnormal autonomic nervous system physiology, Low-set ears, Opacif... OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina,... OMIM:253280
Osteogenesis Imperfecta
Intestinal obstruction, Mixed hearing impairment, Corneal opacity, Progressive hearing impairment... ORPHA:666
Mandibuloacral Dysplasia Progeroid Syndrome
Proptosis, High palate, Shallow orbits OMIM:619127
Craniosynostosis And Dental Anomalies
Papilledema, Stapes ankylosis, Absent malleus, Hypertelorism, Narrow palate, Proptosis, High pala... OMIM:614188
Mucolipidosis Ii Alpha/Beta
Hypertelorism, Myelopathy, Macroglossia, Opacification of the corneal stroma, Umbilical hernia, M... OMIM:252500
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Hypertelorism, Cleft palate, Proptosis, Bifid uvula OMIM:609192
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Loeys-Dietz Syndrome 2
Eosinophilic infiltration of the esophagus, Hypertelorism, Cleft palate, Proptosis, Umbilical her... OMIM:610168
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Thyroid C cell hyperplasia OMIM:300952
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract, Protruding ear, Low-set ears, Small bowel diverticula ORPHA:90348
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Tangier Disease
Facial diplegia, Corneal opacity ORPHA:31150
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, High palate, Hearing impairment OMIM:619869
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Proptosis, High palate, Hypertelorism OMIM:271665
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Osteogenesis Imperfecta, Type Vii
Proptosis OMIM:610682
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Opacification of the corneal stroma, Hearing impairment ORPHA:79280
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Tropical Endomyocardial Fibrosis
Proptosis ORPHA:75565

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lhfpl2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lhfpl2.

No publications found that use IMPC mice or data for Lhfpl2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lhfpl2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lhfpl2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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