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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
Adenomyosis
Dysmenorrhea, Adenomyosis OMIM:600458
Leydig Cell Hypoplasia
Increased circulating gonadotropin level, Cryptorchidism, Abnormal external genitalia, Abnormal v... ORPHA:755
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Bardet-Biedl Syndrome 6
External genital hypoplasia, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Vaginal atr... OMIM:605231
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Renal Hypodysplasia/Aplasia 1
Hypertelorism, Bicornuate uterus, Primary amenorrhea, Vaginal atresia, Low-set ears OMIM:191830
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... ORPHA:65681
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Microtia, Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dysplasi... ORPHA:3301
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Bicornuate uterus, Intestinal malrotation, Retinal detachment, ... ORPHA:2143
Bardet-Biedl Syndrome 1
High palate, Retinal degeneration, Bone spicule pigmentation of the retina, Micropenis, Rod-cone ... OMIM:209900
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Gonadal dysgenesis with female... ORPHA:168563
Tetralogy Of Fallot
Cryptorchidism, Proptosis ORPHA:3303
Meckel Syndrome 12
Vaginal atresia, Low-set ears, Bifid uvula OMIM:616258
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Sensorineural hearing impairment, Vaginal fistula ORPHA:2597
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Perrault Syndrome 3
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypoplasia of the ... OMIM:614129
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Low-set ears, Hypertelorism, Micropenis, Abnormal fallopian tube morphology, Abnorma... ORPHA:1655
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... ORPHA:1916
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... OMIM:612964
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Cleft palate OMIM:258320
Perrault Syndrome 6
Sensorineural hearing impairment, Hypoplasia of the uterus, Streak ovary, Irregular menstruation,... OMIM:617565
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Fused labia minora, Proptosis, Vaginal atresia, Hypoplastic labia majora OMIM:207410
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Rod-cone dystrophy, Cleft palate, Uterus didelphys, Septate vagina, Aplasia o... ORPHA:2237
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Hearing impairment, Bicornuate uterus ORPHA:2578
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Vaginal atresia... OMIM:236700
Xp22.3 Microdeletion Syndrome
Ectopic anus, Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Secondary ameno... ORPHA:1643
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Hymen, Imperforate
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos OMIM:237100
Meacham Syndrome
Abnormal vagina morphology, Hypoplasia of penis, Hydrometrocolpos, Ambiguous genitalia, Abnormal ... ORPHA:3097
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, EEG abnormality, Micropenis, Hypospadias, Developmental cataract, Cryptorchidism OMIM:618815
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Cleft palate, Primary ameno... OMIM:615300
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Filippi Syndrome
Optic atrophy, Ambiguous genitalia, Proptosis, Cryptorchidism, Dystonia OMIM:272440
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:300068
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea OMIM:158330
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Proptosis, Cataract, Macular atrophy OMIM:616171
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Apert Syndrome
Ectopic anus, Narrow palate, Hypertelorism, Cleft palate, Shallow orbits, Bifid uvula, Pyloric st... OMIM:101200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Pri... OMIM:614841
Tetraamelia Syndrome 1
Anal atresia, Urethral atresia, Absent external genitalia, Cleft palate, Hypoplasia of the fallop... OMIM:273395
Caudal Duplication
Myelomeningocele, Abnormal penis morphology, Uterus didelphys, Intestinal duplication, Cryptorchi... ORPHA:1756
Fraser Syndrome
High palate, Ambiguous genitalia, Umbilical hernia, Encephalocele, Small scrotum, Ectopic anus, A... ORPHA:2052
Renal Agenesis
Anal atresia, Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Optic disc pallor, Cataract, Vaginal hernia, Hypertelorism ORPHA:3173
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Hypotelorism, Microtia OMIM:614851
Fraser Syndrome 1
Myelomeningocele, Low-set ears, Corneal opacity, Abnormal pinna morphology, Hypertelorism, Bicorn... OMIM:219000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Azoospe... OMIM:601076
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Congenital sensorineural hearing impairment, Hypoplasia of the uterus, H... ORPHA:432
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... ORPHA:99429
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Low-set ears, Bicornuate uterus, Intestinal malrotation, Retina... OMIM:222448
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Sensorineural hearing impairment, Uterus didelphys, Primary amenorrhea, Septa... OMIM:146255
Kennerknecht syndrome
High palate, Malrotation of colon, Hypoplasia of the uterus, Deeply set eye, Hypotelorism, Abnorm... OMIM:600908
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Cryptorchidism, Proptosis, Hypertelorism OMIM:618577
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Camptobrachydactyly
Septate vagina ORPHA:1319
Erythrokeratodermia Variabilis
Corneal opacity, Protruding ear, Cataract, Hearing impairment, Abnormal testis morphology ORPHA:317
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... ORPHA:93111
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Blind vagina, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, ... ORPHA:456328
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Amenorrhea, Hypoplasia of the uterus, Female infertility, Cupped ear, Irregular mens... OMIM:110100
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... ORPHA:753
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertelorism, Cryptorchidism, Proptosis, Umbilical hernia, Low-set ears ORPHA:352490
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... OMIM:137920
Ovarian Fibrothecoma
Abnormal endometrium morphology, Metrorrhagia, Gonadal calcification, Ovarian fibroma, Abnormalit... ORPHA:314478
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism ORPHA:281090
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... ORPHA:325345
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Protruding ear, Hypoplasia of the uterus, Cleft palate, Primary ameno... ORPHA:247768
Optic Pathway Glioma
Optic atrophy, Papilledema, Precocious puberty, Proptosis ORPHA:2086
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Galactosialidosis
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnorma... ORPHA:3130
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Camptobrachydactyly
Septate vagina OMIM:114150
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Ichthyosis, X-Linked
Cryptorchidism, Opacification of the corneal stroma, Testicular neoplasm OMIM:308100
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Absent Radius-Anogenital Anomalies Syndrome
Anal atresia, Rectovaginal fistula, Rectal atresia, Perineal fistula ORPHA:3016
Lumbar Syndrome
Myelomeningocele, Anal atresia, Ectopic anus, Bifid scrotum, Micropenis, Hypospadias, Bifid uteru... ORPHA:83628
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Hypertelorism, Aplasia of the uterus OMIM:266810
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Hypertelorism, Bicornuate uterus, Proptosis, Low-set ears, Posteriorly rotated... OMIM:263210
Acrofrontofacionasal Dysostosis 2
High palate, Low-set ears, Bifid scrotum, Overfolded helix, Hypospadias, Proptosis, Shawl scrotum... OMIM:239710
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Satoyoshi Syndrome
Amenorrhea, Malabsorption, Hypoplasia of the uterus OMIM:600705
Oocyte Maturation Defect 10
Female infertility OMIM:619176
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
46,Xx Gonadal Dysgenesis
Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Hearing i... ORPHA:243
Ovarian Dysgenesis 3
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... OMIM:614324
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Oocyte Maturation Defect 12
Female infertility OMIM:619697
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Elevated circulating follicle stimulating ho... ORPHA:90796
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Sensorineural hearing impairme... OMIM:154230
Pontocerebellar Hypoplasia, Type 10
High palate, Cryptorchidism, Proptosis OMIM:615803
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
Townes-Brocks Syndrome 2
Anal atresia, Microtia, Overfolded helix, Hypospadias, Bifid uterus, Cupped ear, Spina bifida occ... OMIM:617466
Teebi Hypertelorism Syndrome 2
High palate, Cleft palate, Hypospadias, Hearing impairment, Proptosis, Hypertelorism OMIM:619736
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Deeply set eye, Optic nerve hypoplasia, Optic atrophy, Cataract, Cryptorchidism ORPHA:496790
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Cryptorchidism ORPHA:1867
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Interstitial Cystitis
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, A... ORPHA:37202
Tyshchenko Syndrome
High palate, Low-set ears, Narrow palate, High, narrow palate, Supernumerary nipple, Cleft palate... OMIM:615102
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Exudative vitreoretinopathy, Retinal detachment, Isosexual precocious puberty, A... ORPHA:2788
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Cleft palate, Retinopathy, Retinal detachment,... ORPHA:90654
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Zellweger Syndrome
High palate, Sensorineural hearing impairment, Corneal opacity, Malabsorption, EEG abnormality, H... ORPHA:912
Non-Syndromic Bicoronal Craniosynostosis
Hearing impairment, Hypertelorism, Proptosis ORPHA:35099
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Vaginal atresia, Low-set ears, Aplasia of the epiglottis, Hydrometrocolpos OMIM:617088
Crouzon Syndrome
Keratitis, Conductive hearing impairment, Shallow orbits, Optic atrophy, Atresia of the external ... OMIM:123500
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid uvula, Optic disc coloboma, Abnormal morpho... ORPHA:1790
Distal Monosomy 9P
Abnormal antihelix morphology, Abnormal helix morphology, High, narrow palate, Cleft palate, Micr... ORPHA:1642
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Sensorineural hearing impairment, Cryptorchidism, Proptosis, Hypogonadism OMIM:615381
Waardenburg Syndrome, Type 1
Myelomeningocele, Hypoplastic iris stroma, Congenital sensorineural hearing impairment, Blue irid... OMIM:193500
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Anal atresia, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Ovotestis... OMIM:309801
Duplication Of Urethra
Chordee, Anal atresia, Distal urethral duplication, Bifid scrotum, Micropenis, Uterus didelphys, ... ORPHA:237
Cherubism
Optic atrophy, Proptosis ORPHA:184
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea ORPHA:2432
Walker-Warburg Syndrome
Low-set ears, Corneal opacity, Protruding ear, Hypoplasia of penis, Cleft palate, Retinal detachm... ORPHA:899
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer ORPHA:145
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... ORPHA:1473
Microphthalmia With Brain And Digit Anomalies
High palate, Sensorineural hearing impairment, Microcornea, Retinal dystrophy, Iris coloboma, Cat... ORPHA:139471
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Urethral stricture, Vaginal stricture, Corneal erosion ORPHA:79409
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Cryptorchidism, Intestinal atresia, Intestinal malrotatio... ORPHA:2970
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Proptosis, Low-set, posteriorly rotated ears ORPHA:2370
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Uterine leiomyosarcoma, Cataract, Vagi... ORPHA:523
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Kleeblattschaedel
Proptosis, Recurrent corneal erosions OMIM:148800
Ritscher-Schinzel Syndrome 4
High palate, Narrow palate, Deeply set eye, Hypertelorism, Hypotelorism, Micropenis, Athetosis, P... OMIM:619435
Waardenburg Syndrome
Myelomeningocele, Abnormal vagina morphology, Conductive hearing impairment, Aplasia/Hypoplasia o... ORPHA:3440
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Norrie Disease
Abnormal helix morphology, Optic atrophy, Erectile dysfunction, Cataract, Ectopia lentis, Deeply ... ORPHA:649
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Proptosis, Clitoral hypertrophy, Macrotia, Low-set ... OMIM:246200
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Cleft palate, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, P... OMIM:119500
Gómez-López-Hernández Syndrome
Low-set ears, Corneal opacity, Hypertelorism ORPHA:1532
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Vaginal fistula, Simple ear OMIM:619318
Lowry-Maclean Syndrome
Low-set ears, Corneal opacity, High, narrow palate, Cleft palate, Hypospadias, Megalocornea, Pylo... ORPHA:2409
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Me... ORPHA:370348
Microcephaly 5, Primary, Autosomal Recessive
Hearing impairment, Proptosis OMIM:608716
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Proptosis ORPHA:411493
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Hiatus hernia, Bicornuate uterus OMIM:606408
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Abnormal pinna morphology, Bicornuate uterus, Spina bifida occulta, Clitoral h... OMIM:300707
Hand-Foot-Genital Syndrome
Chordee, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, Longitudinal vaginal septum OMIM:140000
Orofaciodigital Syndrome Type 4
Anal atresia, Low-set ears, Conductive hearing impairment, Absent testis, High, narrow palate, Cl... ORPHA:2753
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Prominent scrotal raphe, Thickened helices, Narrow palate, Hypertelorism, Cleft palate, Bifid scr... ORPHA:1555
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, High palate, Ectopic anus, Anal atresia, Cleft palate, Hydrometrocolpos... ORPHA:2473
3Mc Syndrome 3
Corneal opacity, Abnormal pinna morphology, Hypertelorism, Cleft palate, Bifid scrotum, Micropeni... OMIM:248340
Lateral Meningocele Syndrome
High palate, Low-set ears, Sensorineural hearing impairment, Conductive hearing impairment, Hyper... ORPHA:2789
Beaulieu-Boycott-Innes Syndrome
Velopharyngeal insufficiency, Deeply set eye, Endometriosis, Premature ovarian insufficiency OMIM:613680
Multiple Synostoses Syndrome 3
Proptosis, Cleft palate OMIM:612961
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Primary amenorrhea, Breast hypoplasia, Increased circulating gonadotrop... ORPHA:785
Mosaic Trisomy 9
High palate, Low-set ears, Corneal opacity, Hypotelorism, Hypertelorism, Hypoplasia of penis, Cle... ORPHA:99776
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Proptosis, Cleft palate OMIM:601420
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Bifid uvula, Cleft palate ORPHA:2736
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia OMIM:252650
Beare-Stevenson Cutis Gyrata Syndrome
Prominent scrotal raphe, Narrow palate, Bifid scrotum, Low-set, posteriorly rotated ears, Optic a... OMIM:123790
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Tetralogy Of Fallot
Proptosis OMIM:187500
Shashi-Pena Syndrome
Low-set ears, Proptosis, Posteriorly rotated ears, Hypertelorism OMIM:617190
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Hypoplasia of the uterus, Micropenis, Hypergona... OMIM:241080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Anencephaly, Opacification of the corneal stroma, Optic nerve dysplasia, Decreased te... OMIM:615287
Aromatase Deficiency
Ambiguous genitalia, female, Female infertility, Hypergonadotropic hypogonadism, Primary amenorrh... ORPHA:91
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Abnormal morphology of female internal genitalia, Furrowed tongue, Cat... ORPHA:1839
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Retinal detachment, Proptosis, Cataract, Abnormal... ORPHA:90653
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Proptosis, Median cleft lip and palate, Posteriorly rotated ears ORPHA:1832
8Q21.11 Microdeletion Syndrome
High palate, Low-set ears, Corneal opacity, Hypertelorism, Hypoplasia of penis, Iris hypopigmenta... ORPHA:284160
Axenfeld-Rieger Syndrome, Type 2
Hypertelorism, Anterior chamber synechiae, Hypospadias, Opacification of the corneal stroma, Micr... OMIM:601499
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Cleft palate, Micropenis, Microtia, Hypospadias, Urethral stricture, H... OMIM:617063
Pontocerebellar Hypoplasia, Type 3
High palate, High, narrow palate, Optic atrophy, Hearing impairment, Proptosis, Macrotia, Low-set... OMIM:608027
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Vertical orbital dystopia, Supernumerary nipple, Bifid uterus, Abnormal reproductive... ORPHA:1521
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Proptosis, Low-set ears OMIM:617895
Autosomal Dominant Cerebellar Ataxia
Torticollis, Sensorineural hearing impairment, Action tremor, Laryngeal dystonia, Retinal degener... ORPHA:99
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Sanjad-Sakati Syndrome
Hypoparathyroidism, Corneal opacity, Deeply set eye, Hypoplasia of penis, Congenital hypoparathyr... ORPHA:2323
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Proptosis, Low-set ears ORPHA:2522
Fryns Syndrome
High palate, Ectopic anus, Corneal opacity, Anal atresia, Duodenal atresia, Bicornuate uterus, Cl... ORPHA:2059
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the ... OMIM:271520
Hand-Foot-Genital Syndrome
Bicornuate uterus, Microtia, Hypospadias, Abnormality of the urethra, Abnormality of the uterus ORPHA:2438
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Megalocornea, Proptosis, Umbilical hernia, Hypertelorism OMIM:618354
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Bartsocas-Papas Syndrome
Corneal opacity, Cleft palate, Popliteal pterygium, Ambiguous genitalia, Hypoplastic male externa... ORPHA:1234
Chand Syndrome
Hypertelorism, Bifid tongue, Imperforate hymen, Cleft palate ORPHA:1401
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Precocious puberty... ORPHA:254346
Winchester Syndrome
Corneal opacity OMIM:277950
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Intestinal malrotation, Tracheoesophageal fistula, Arrhinencephaly, ... ORPHA:2538
Pseudotrisomy 13 Syndrome
Anal atresia, Low-set ears, Hypotelorism, Cryptorchidism, Bicornuate uterus, Micropenis, Median c... OMIM:264480
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Cataract, Decreased testicular size, Hypoplastic female external genitalia, Low-... OMIM:612469
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Protruding ear, Narrow palate, Optic atrophy, Proptosis, Cataract, Macrotia OMIM:617481
Ogden Syndrome
Torticollis, Cryptorchidism, High, narrow palate, Proptosis, Macrotia, Low-set ears ORPHA:276432
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Robinow Syndrome, Autosomal Dominant 2
Sensorineural hearing impairment, Conductive hearing impairment, Hypertelorism, Cleft palate, Mic... OMIM:616331
Oculocerebrocutaneous Syndrome
Corneal opacity, Hypertelorism, External ear malformation, Hearing impairment, Iris coloboma, Cry... ORPHA:1647
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Trisomy 13
Abnormal antihelix morphology, Low-set ears, Sensorineural hearing impairment, Deeply set eye, Hy... ORPHA:3378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Corneal opacity, Low-set ears, Cleft palate, Microtia, Buphthalmos, Optic nerve hyp... OMIM:236670
Apert Syndrome
Ectopic anus, Sensorineural hearing impairment, Conductive hearing impairment, Narrow palate, Ova... ORPHA:87
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Hypertelorism, Bicornuate uterus, Shawl scrotum OMIM:145420
Rhombencephalosynapsis
Anal atresia, Tracheoesophageal fistula, Low-set, posteriorly rotated ears, Abnormality of the ut... ORPHA:59315
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Macroglossia, Microtia, Optic atrophy, Hearing impairment, Proptosis, Cataract,... ORPHA:1914
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Hypertelorism, Abnormal helix morphology, Cleft palate, Opacification of the cornea... OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypertelorism, Abnormal helix morphology, Cleft palate, Hypoplasia of the thymus, Opacification o... OMIM:214110
Oeis Complex
Myelomeningocele, Anal atresia, Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fis... OMIM:258040
Baller-Gerold Syndrome
High palate, Anal atresia, Conductive hearing impairment, Cleft palate, Bifid uvula, Spina bifida... OMIM:218600
Kallmann Syndrome
Sensorineural hearing impairment, Dyspareunia, Hypoplasia of penis, Cleft palate, Micropenis, Hyp... ORPHA:478
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Proptosis, Cataract ORPHA:85172
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Abnormal vagina morphology, Anal atresia, Malabsorption, Hypopl... ORPHA:2315
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis OMIM:618492
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, EEG abnormality, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopa... ORPHA:137902
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Large earlobe, Low-set ears, Corneal opacity, Hypertelorism, Micropenis, Hypospadias, Optic nerve... OMIM:301056
Neu-Laxova Syndrome
External genital hypoplasia, Opisthotonus, Cleft palate, Macrotia, Bifid uvula, Ambiguous genital... ORPHA:2671
45,X/46,Xy Mixed Gonadal Dysgenesis
High palate, Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal ge... ORPHA:1772
Mosaic Trisomy 8
High palate, Abnormal antihelix morphology, Corneal opacity, Deeply set eye, Hypertelorism, Abnor... ORPHA:96061
Sialidosis Type 2
Corneal opacity, Abnormal macular morphology, Tremor, Umbilical hernia, Hearing impairment ORPHA:87876
Woodhouse-Sakati Syndrome
Protruding ear, Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, ... ORPHA:3464
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Abnormal pinna morphology, Low-set ears, Cleft palate, Micropenis, Microtia, Uterus... OMIM:617925
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Cleft palate, Encephalocele, Proptosis, Developmental cataract, Pterygium, Cryptorc... ORPHA:1865
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Protruding ear, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism... OMIM:152950
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Low-set ears, Protruding ear, Hypertelorism, Streak ovary, Mic... OMIM:618820
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:168558
Oculocerebral Hypopigmentation Syndrome, Cross Type
Sensorineural hearing impairment, Corneal opacity, Choroideremia, Ocular albinism, EEG abnormalit... ORPHA:2719
Crouzon Syndrome
Conductive hearing impairment, Narrow palate, Optic atrophy, Hearing impairment, Proptosis, Iris ... ORPHA:207
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Low-set ears, Hypertelorism, Bifid scrotum, Abnormal penis morphology, Hypospadias, Proptosis, Sh... ORPHA:2211
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... OMIM:609441
Harel-Yoon Syndrome
Corneal opacity, Deeply set eye, Optic atrophy, Developmental cataract, Dystonia OMIM:617183
Chromosome 8Q21.11 Deletion Syndrome
High palate, Low-set ears, Sensorineural hearing impairment, Protruding ear, Hypertelorism, Cleft... OMIM:614230
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Proptosis, Hypertelorism, Umbilical hernia OMIM:615834
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... OMIM:617519
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Adrenoc... ORPHA:289548
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Tracheoesophageal fistula, Hearing impairment, Iris coloboma, C... ORPHA:77298
Silver-Russell Syndrome
Abnormal vagina morphology, Low-set ears, Precocious puberty, Abnormality of male external genita... ORPHA:813
Fanconi Anemia
High palate, Absent testis, Decreased fertility in males, Cleft palate, Tracheoesophageal fistula... ORPHA:84
20Q11.2 Microduplication Syndrome
Lingual dystonia, Thickened ears, Bifid scrotum, Micropenis, Microtia, Low-set, posteriorly rotat... ORPHA:363659
H Syndrome
Amenorrhea, Malabsorption, Micropenis, Proptosis, Decreased testicular size, Hypogonadism, Azoosp... ORPHA:168569
Autosomal Dominant Spondylocostal Dysostosis
Abnormal morphology of female internal genitalia, Cleft palate, Spina bifida occulta ORPHA:1797
Diabetic Embryopathy
Cleft palate, Micropenis, Microtia, Low-set, posteriorly rotated ears, Abnormal morphology of fem... ORPHA:1926
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Deeply set eye, Pigmentary retinopathy, Optic atrophy, Tremo... ORPHA:90321
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Deeply set eye, Velopharyngeal insufficiency, Micropenis, Hypospadias, Endometriosi... ORPHA:363444
Non-Syndromic Anorectal Malformation
Myelomeningocele, Anal atresia, Ectopic anus, Rectal fistula, Hypospadias, Persistent cloaca, Rec... ORPHA:557
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Proptosis, Rieger anomal... OMIM:109120
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Proptosis, Hearing impairment, Chorioretinal coloboma OMIM:617662
Currarino Syndrome
Anal atresia, Bicornuate uterus, Anal fistula, Septate vagina, Anal stenosis, Perianal abscess, R... OMIM:176450
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Eleva... ORPHA:572333
Microphthalmia With Linear Skin Defects Syndrome
Retinal dystrophy, Ambiguous genitalia, Clitoral hypertrophy, Chorioretinal dysplasia, Vitritis, ... ORPHA:2556
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Low-set ears, Hypertelorism, Cleft palate, Micropenis, Proptosis, Protein-losing ent... OMIM:235255
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Chops Syndrome
Hypertelorism, High, narrow palate, Optic atrophy, Hearing impairment, Proptosis, Cataract, Crypt... OMIM:616368
Cherubism
Optic neuropathy, Narrow palate, Proptosis, Marcus Gunn pupil, Macular scar OMIM:118400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Hypertelorism, Optic nerve hypoplasia ORPHA:457284
Matthew-Wood Syndrome
Annular pancreas, Low-set ears, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Du... ORPHA:2470
Mucolipidosis Type Iii
Corneal opacity, Cleft palate ORPHA:577
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Dyspareunia ORPHA:1334
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Vaginal dryness, Supernumerary nipple, Cleft palate, Micropenis, H... OMIM:106260
20Q13.33 Microdeletion Syndrome
Hypospadias, Decreased scrotal rugation, Prominent crus of helix, Low-set, posteriorly rotated ea... ORPHA:261311
Gm1 Gangliosidosis
Corneal opacity, Abnormal retinal vascular morphology, Cherry red spot of the macula, Macroglossi... ORPHA:354
Alpha-Mannosidosis
Corneal opacity, Narrow palate, Abnormal helix morphology, Macroglossia, Hearing impairment, Cata... ORPHA:61
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Limbal dermoid, Abnormal conjunctiva morphology, Proptosi... ORPHA:3339
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hydrocele testis, Chordee, High palate, Low-set ears, Hypertelorism, Imperforate hymen, Exaggerat... OMIM:619522
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Increased circulating gonadotropin level, Infertility, Impotence, Small pituitary gland, Streak o... ORPHA:2232
Hypophosphatasia, Childhood
Proptosis OMIM:241510
Exstrophy-Epispadias Complex
Anal atresia, Female sexual dysfunction, Cystocele, Bifid scrotum, Bifid uterus, Absent penis, An... ORPHA:322
Campomelic Dysplasia
Low-set ears, Cleft palate, Male pseudohermaphroditism, Ambiguous genitalia, Proptosis, Hearing i... ORPHA:140
Renal Agenesis, Bilateral
Low-set ears, Hypertelorism, Cleft palate, Tracheoesophageal fistula, Sirenomelia, Abnormal morph... ORPHA:1848
Ulnar-Mammary Syndrome
Anal atresia, Bicornuate uterus, Imperforate hymen, Micropenis, Axillary apocrine gland hypoplasi... OMIM:181450
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Chondrodysplasia With Joint Dislocations, Gpapp Type
Hearing impairment, Proptosis, Cleft palate OMIM:614078
Acrocardiofacial Syndrome
Anal atresia, Low-set ears, Hypertelorism, Hypoplasia of penis, Cleft palate, Hypospadias, Propto... ORPHA:2008
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Arrhinencephaly, Microtia ORPHA:1788
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Proptosis, Meckel diverticulum OMIM:602613
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Retinal degeneration, Attenuation of retinal blood vessels, Geo... OMIM:619260
Frontoocular Syndrome
High palate, Hypotelorism, Proptosis, Low-set ears, Posteriorly rotated ears OMIM:605321
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Septate vagina, Bicornuate uterus OMIM:608978
Microgastria-Limb Reduction Defects Association
Bicornuate uterus, Intestinal malrotation, Splenogonadal fusion, Arrhinencephaly, Microgastria, A... OMIM:156810
Cornelia De Lange Syndrome 1
High palate, Sensorineural hearing impairment, Malrotation of colon, Low-set ears, Hiatus hernia,... OMIM:122470
De Barsy Syndrome
High palate, Large earlobe, Corneal opacity, Deeply set eye, Hypertelorism, Low-set ears, Abnorma... ORPHA:2962
Arthrogryposis, Distal, Type 2A
High palate, Deeply set eye, Spina bifida occulta, Hearing impairment, Abnormal auditory evoked p... OMIM:193700
Sialidosis Type 1
Sensorineural hearing impairment, Corneal opacity, EEG abnormality, Decreased nerve conduction ve... ORPHA:812
Myoectodermal Gonadal Dysgenesis Syndrome
Sensorineural hearing impairment, Anal atresia, Hypoplasia of the uterus, Rod-cone dystrophy, Ove... OMIM:618419
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity, Proptosis, Hypertelorism OMIM:618961
Pagod Syndrome
Agonadism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Optic atrophy, ... ORPHA:991
Sjogren-Larsson Syndrome
Macular degeneration, Opacification of the corneal epithelium, Retinal thinning, Astigmatism, Ret... OMIM:270200
Coffin-Siris Syndrome 9
High palate, Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Low... OMIM:615866
Meckel Syndrome
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Encephalocele, Hypertelorism, M... ORPHA:564
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Hypotelorism, Cleft palate, Proptosis, Cryptorchidism, Posteriorly... ORPHA:2215
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Optic disc pallor, Proptosis, Hypsarrhythmia, Hypertelorism OMIM:618437
Chromosome 5P13 Duplication Syndrome
High palate, Low-set ears, Hypotelorism, Astigmatism, Proptosis, Hypertelorism OMIM:613174
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Proptosis, Rod-cone dystrophy, Hypsarrhythmia OMIM:617276
Acro-Renal-Mandibular Syndrome
High palate, Bicornuate uterus, Aplasia/Hypoplasia of the tongue, Uterus didelphys, Tracheoesopha... ORPHA:958
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Deeply set eye, Decreased nerve cond... OMIM:216400
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Proptosis OMIM:166300
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Proptosis, EEG abnormality, Large earlobe OMIM:618346
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... OMIM:610644
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Hypotelorism, Cleft palate, Prop... OMIM:201050
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Labial hypoplasia, Opacification of the corneal stroma, Hypoplastic nipples, Cataract, Low-set ears OMIM:211370
Bartsocas-Papas Syndrome 1
Corneal ulceration, Anal atresia, Low-set ears, Hypertelorism, Absent external genitalia, Bicornu... OMIM:263650
Ulnar-Mammary Syndrome
Ectopic anus, Anal atresia, Hypoplasia of penis, Hypoplastic nipples, Pyloric stenosis, Breast ap... ORPHA:3138
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... OMIM:616648
Neu-Laxova Syndrome 1
Hypertelorism, Cleft palate, Bifid uterus, Short umbilical cord, Hydranencephaly, Small placenta,... OMIM:256520
Muenke Syndrome
High palate, Sensorineural hearing impairment, Hypertelorism, Proptosis, Hearing impairment OMIM:602849
Trisomy 12P
Abnormal antihelix morphology, Anal atresia, Low-set ears, Supernumerary nipple, Cleft palate, Pr... ORPHA:1699
Chromosome 17Q12 Deletion Syndrome
High palate, Protruding ear, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the ... OMIM:614527
Opitz Gbbb Syndrome
High palate, Anal atresia, Ectopic anus, Low-set ears, Hypertelorism, Bicornuate uterus, Cleft pa... ORPHA:2745
Bainbridge-Ropers Syndrome
High palate, Low-set ears, Precocious puberty, Hypertelorism, Supernumerary nipple, Deeply set ey... OMIM:615485
Meckel Syndrome 14
Low-set ears, Ambiguous genitalia, Aplasia of the uterus, Hypertelorism, Occipital encephalocele OMIM:619879
Microhydranencephaly
Proptosis, Hydranencephaly, Macrotia, Athetosis OMIM:605013
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Proptosis, Hypertelorism OMIM:614800
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Cutis Laxa, Autosomal Recessive, Type Iie
High palate, Hearing impairment, Proptosis OMIM:619451
14Q22Q23 Microdeletion Syndrome
Hypertelorism, Cryptorchidism, Small scrotum, Cupped ear, Atresia of the external auditory canal,... ORPHA:264200
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Chordee, Labial hypoplasia, Vesicovaginal fistula, Hypertelorism, Conductive hearing impairment, ... OMIM:201750
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment, Proptosis, Hypertelorism ORPHA:93262
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Congenital Rubella Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Cataract,... ORPHA:290
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Anal atresia, Labial hypoplasia, Bicornuate uterus, Retinal dystrophy, Clitoral hypertrophy, Macu... ORPHA:140952
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Hypertelorism, Cleft palate, Micropenis, Bifid tongue, Clitoral hypoplasia, Hearing... OMIM:616894
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Remnants of the hyaloid vascular system, Hypospadias, Cupped ea... OMIM:300166
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Adams-Oliver Syndrome 1
Encephalocele, Cleft palate, Imperforate hymen, Supernumerary nipple OMIM:100300
X-Linked Intellectual Disability, Snyder Type
High palate, Low-set ears, Testicular atrophy, EEG abnormality, Hypertelorism, Cleft palate, Hypo... ORPHA:3063
Fryns Syndrome
Anal atresia, Duodenal atresia, Low-set ears, Hypertelorism, Bicornuate uterus, Cleft palate, Bif... OMIM:229850
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Low-set ears, Corneal opacity, Buphthalmos, Hypospadias, Absence of labia majora, Optic nerve hyp... ORPHA:495875
Roberts Syndrome
High palate, Absent earlobe, Hypertelorism, Cleft palate, External ear malformation, Long penis, ... ORPHA:3103
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Anal atresia, Conductive hearing impairment, Hypertelorism, Blue irides, Decreased response to gr... OMIM:129900
Ablepharon Macrostomia Syndrome
Corneal opacity, Hypoplasia of penis, Microtia, Atresia of the external auditory canal, Ambiguous... ORPHA:920
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Proptosis, Absent uvula, Hypertelorism, Posteriorly rotated ears OMIM:618529
Histiocytosis-Lymphadenopathy Plus Syndrome
Sensorineural hearing impairment, Decreased response to growth hormone stimulation test, Micropen... OMIM:602782
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Proptosis OMIM:608432
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Narrow palate, Hypertelori... OMIM:182212
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Hearing impairment, Proptosis, Cleft palate ORPHA:93359
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias, Shallow orbits, Proptosis, Hypertelorism ORPHA:73230
Limb-Mammary Syndrome
Absent nipple, Protruding ear, Cleft palate, Bilateral breast hypoplasia, Primary amenorrhea, Sub... ORPHA:69085
Pontocerebellar Hypoplasia Type 7
High palate, Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Ab... ORPHA:284339
Townes-Brocks Syndrome 1
Sensorineural hearing impairment, Anal atresia, Duodenal atresia, Bifid scrotum, Microtia, Hyposp... OMIM:107480
Schinzel-Giedion Midface Retraction Syndrome
Low-set ears, Bicornuate uterus, Opisthotonus, Micropenis, Macroglossia, Hypospadias, Shallow orb... OMIM:269150
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Cleft palate, Microtia, Proptosis, Low-set ears OMIM:301022
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Cleft... ORPHA:3320
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia OMIM:148200
Alg9-Cdg
Torticollis, Large fleshy ears, Low-set ears, Hypoplasia of the ovary, Bicornuate uterus, Shallow... ORPHA:79328
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Low-set ears, Sensorineural hearing impairment, Hypertelorism, High, narrow palate, ... OMIM:214100
Microphthalmia, Syndromic 9
Low-set ears, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Dwarfism, Familial, With Muscle Spasms
Low-set ears, Proptosis, Macrotia OMIM:600771
Smith-Lemli-Opitz Syndrome
Cleft palate, Pyloric stenosis, Ambiguous genitalia, Cataract, Small scrotum, Precocious puberty,... OMIM:270400
Phocomelia, Schinzel Type
Anal atresia, Protruding ear, Hypoplasia of penis, Cleft palate, High, narrow palate, Tracheoesop... ORPHA:2879
Prader-Willi Syndrome Due To Translocation
High palate, Hypotelorism, Deeply set eye, External genital hypoplasia, Stellate iris, Decreased ... ORPHA:177907
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal... OMIM:310600
Proboscis Lateralis
High palate, Corneal opacity, External genital hypoplasia, Optic nerve hypoplasia, Microcornea, O... ORPHA:141099
Short Syndrome
Sensorineural hearing impairment, Corneal opacity, Deeply set eye, Abnormal pupil morphology, Abn... ORPHA:3163
Kniest Dysplasia
Degenerative vitreoretinopathy, Lens luxation, Rhegmatogenous retinal detachment, Cleft palate, R... ORPHA:485
Osteolysis Syndrome, Recessive
Proptosis OMIM:259610
Moebius Syndrome
High palate, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Hypogonadotropic hy... ORPHA:570
Microphthalmia, Syndromic 3
Optic nerve aplasia, Sensorineural hearing impairment, Anterior pituitary hypoplasia, Bilateral s... OMIM:206900
Shprintzen-Goldberg Syndrome
Low-set ears, Conductive hearing impairment, Protruding ear, Hypertelorism, High, narrow palate, ... ORPHA:2462
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Blue irides, Decreased response to growth hormone stimulation test, Micropenis, Cleft palate, Hyp... OMIM:604292
Vacterl/Vater Association
Anal atresia, Hypoplasia of penis, Cleft palate, Bifid scrotum, Hypospadias, Tracheoesophageal fi... ORPHA:887
2Q31.1 Microdeletion Syndrome
Low-set ears, Hypertelorism, Cleft palate, Optic disc coloboma, Proptosis, Iris coloboma, Cryptor... ORPHA:251014
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Retinal detachment, Cataract OMIM:613153
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Frias Syndrome
Posteriorly rotated ears, Hypertelorism, Proptosis, Cupped ear OMIM:609640
Elsahy-Waters Syndrome
High palate, Low-set ears, Hypertelorism, Bifid scrotum, Increased cup-to-disc ratio, Hypospadias... OMIM:211380
Mosaic Variegated Aneuploidy Syndrome
Corneal opacity, Duodenal atresia, Cleft palate, Stomach cancer, Low-set, posteriorly rotated ear... ORPHA:1052
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Deeply set eye, Decreased nerve cond... OMIM:133540
Spinocerebellar Ataxia Type 3
Proptosis, Dystonia ORPHA:98757
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Proptosis OMIM:612247
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Duodenal atresia, Deeply set eye, Protruding ear, Micropenis, Hypospadias, Retin... ORPHA:464311
Vascular Malformation, Primary Intraosseous
Proptosis, Umbilical hernia OMIM:606893
Robinow Syndrome
Low-set ears, Hypertelorism, External genital hypoplasia, Cryptorchidism, Micropenis, Small scrot... ORPHA:97360
Congenital Sialidosis Type 2
Corneal opacity, Cherry red spot of the macula, Yellow/white lesions of the retina, Hypoplasia of... ORPHA:93400
Autosomal Dominant Robinow Syndrome
Low-set ears, Hypertelorism, Hypoplasia of penis, High, narrow palate, Abnormal penis morphology,... ORPHA:3107
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Cryptorchidism, Scl... OMIM:613001
Juvenile Nasopharyngeal Angiofibroma
Proptosis, Juvenile colonic polyposis ORPHA:289596
Fanconi Anemia, Complementation Group L
Anal atresia, Low-set ears, Cleft palate, Micropenis, Microtia, Tracheoesophageal fistula, Anotia... OMIM:614083
Mogs-Cdg
Hydrocele testis, High palate, Absent brainstem auditory responses, Sensorineural hearing impairm... ORPHA:79330
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Noonan Syndrome
High palate, Sensorineural hearing impairment, Hypertelorism, Aplasia of the semicircular canal, ... ORPHA:648
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Hyperostosis Cranialis Interna
Sensorineural hearing impairment, Optic atrophy, Tinnitus, Proptosis, Facial palsy OMIM:144755
Trisomy 10P
High palate, EEG with focal spikes, Low-set ears, EEG with burst suppression, Low voltage EEG, Ab... ORPHA:171929
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Hypotelorism, Thin ear helix, Hypospadias, Optic nerve hypoplasia, Attenuation ... ORPHA:468631
Kniest Dysplasia
Conductive hearing impairment, Cleft palate, Retinal detachment, Proptosis, Cataract, Umbilical h... OMIM:156550
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis ORPHA:2776
Carpenter Syndrome 1
High palate, Low-set ears, Abnormal pinna morphology, Precocious puberty, Sensorineural hearing i... OMIM:201000
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Cleft palate, Opacification of the corneal stroma, Recurrent corneal erosions, Hearing... OMIM:308205
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Precocious puberty OMIM:163200
Marshall Syndrome
High palate, Sensorineural hearing impairment, Cleft palate, Retinal detachment, Vitreoretinopath... ORPHA:560
Specc1L-Related Hypertelorism Syndrome
Low-set ears, Hypertelorism, Abnormal helix morphology, Proptosis, Umbilical hernia, Shawl scrotu... ORPHA:1519
Pallister-Hall Syndrome
Cleft palate, Ambiguous genitalia, Thyroid hypoplasia, Umbilical hernia, Small scrotum, Anal atre... ORPHA:672
Oculoauricular Syndrome
Morning glory anomaly, Microcornea, Cataract, Iris cyst, Microphakia, Retinal detachment, Posteri... OMIM:612109
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Holoprosencephaly 11
Proptosis, Hypotelorism, Cleft palate OMIM:614226
Microphthalmia, Isolated, With Coloboma 9
Low-set ears, Retinal detachment, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis,... OMIM:615145
Wolf-Hirschhorn Syndrome
Hypertelorism, Cleft palate, Microtia, Hypospadias, Retinopathy, Megalocornea, Low-set, posterior... ORPHA:280
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Proptosis OMIM:122900
Larsen Syndrome
Conductive hearing impairment, Corneal opacity, Hypertelorism, Cleft palate, Shallow orbits, Spin... OMIM:150250
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Tbck-Related Intellectual Disability Syndrome
Sensorineural hearing impairment, Corneal opacity, Deeply set eye, Decreased response to growth h... ORPHA:488632
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Duodenal atresia, Deeply set eye, Protruding ear, Micropenis, Hypospadias, Astig... ORPHA:464306
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Hearing impairment, Elevated circulating thyroid-stimulating hormone concentration, Proptosis, Go... OMIM:274300
Thanatophoric Dysplasia Type 2
Hearing impairment, Encephalocele, Proptosis ORPHA:93274
Roberts-Sc Phocomelia Syndrome
High palate, Low-set ears, Abnormal pinna morphology, Absent earlobe, Hypertelorism, Bicornuate u... OMIM:268300
Wyburn-Mason Syndrome
Tinnitus, Iris hypopigmentation, Proptosis, Hearing impairment, Retinal vascular malformation ORPHA:53719
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Corneal opacity, Hypertelorism, Cleft palate, Optic nerve hypoplasia, Megalocornea,... ORPHA:536471
Branchioskeletogenital Syndrome
Absent nipple, Large earlobe, Absent external genitalia, Micropenis, Attached earlobe, Mixed hear... ORPHA:1299
Atelosteogenesis, Type I
Low-set ears, Hypertelorism, Cleft palate, Encephalocele, Proptosis, Cryptorchidism OMIM:108720
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Smith-Lemli-Opitz Syndrome
Sensorineural hearing impairment, Hypertelorism, Hypoplasia of penis, Cleft palate, Hypospadias, ... ORPHA:818
Thanatophoric Dysplasia
Low-set ears, Proptosis, Hearing impairment ORPHA:2655
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Malabsorption, Tracheoesophageal fistula, Abnormality of the urethra,... ORPHA:537
Desbuquois Syndrome
Proptosis, Low-set, posteriorly rotated ears ORPHA:1425
Developmental And Epileptic Encephalopathy 80
High palate, Uplifted earlobe, Abnormal pinna morphology, Low-set ears, Overfolded helix, Optic d... OMIM:618580
Distal Monosomy 10Q
High palate, Anal atresia, Protruding ear, Hypotelorism, Cochlear malformation, Facial diplegia, ... ORPHA:96148
Cinca Syndrome
Papilledema, Hearing impairment, Proptosis, Progressive sensorineural hearing impairment OMIM:607115
Juvenile Sialidosis Type 2
Corneal opacity, Cherry red spot of the macula, Optic atrophy, Hearing impairment, Cataract, Prot... ORPHA:93399
Acrorenal-Mandibular Syndrome
Absent nipple, High palate, Narrow palate, Bicornuate uterus, Uterus didelphys, Unicornuate uteru... OMIM:200980
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Microtia, Posteriorly rotated ears, Hypertelorism, Conjunctivitis OMIM:602562
Aminopterin/Methotrexate Embryofetopathy
Hypertelorism, Cleft palate, Anencephaly, Low-set, posteriorly rotated ears, Spinal dysraphism, P... ORPHA:1908
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Abnormal pinna morphology, Cleft palate, Hypospadias, Bifid uterus, A... OMIM:236680
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Umbilical hernia, Hearing impairment, Scler... OMIM:614170
Peters Plus Syndrome
Cleft palate, Microtia, second degree, Clitoral hypoplasia, Microcornea, Optic atrophy, Cataract,... ORPHA:709
Townes-Brocks Syndrome
Abnormal vagina morphology, Anal atresia, Hypoplasia of penis, Bifid scrotum, Overfolded helix, H... ORPHA:857
Okamoto Syndrome
Low-set ears, Abnormal helix morphology, Cleft palate, Intestinal malrotation, Bifid uterus, Asti... ORPHA:2729
Dyssegmental Dysplasia With Glaucoma
Proptosis, Cleft palate OMIM:601561
Mucolipidosis Type Iv
Retinopathy, Corneal opacity, Abnormality of retinal pigmentation, EEG abnormality ORPHA:578
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ileus, Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hyp... OMIM:609136
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Microsporidiosis
Keratitis, Corneal ulceration, Prostatitis, Abnormal endometrium morphology, Urethritis, Keratoco... ORPHA:2552
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Lacrimoauriculodentodigital Syndrome
Sensorineural hearing impairment, Corneal ulceration, Abnormal pinna morphology, Low-set ears, Co... ORPHA:2363
Cinca Syndrome
Sensorineural hearing impairment, EEG abnormality, Pseudopapilledema, Proptosis, Retrobulbar opti... ORPHA:1451
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Proptosis, Low-set, posteriorly rotated ears, Spina bifida occulta ORPHA:1185
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormal nerve conduction velocity ORPHA:93476
Saul-Wilson Syndrome
Proptosis, Cataract OMIM:618150
Autosomal Recessive Robinow Syndrome
Ectopic anus, Hypertelorism, Hypoplasia of penis, Bifid tongue, Low-set, posteriorly rotated ears... ORPHA:1507
Neurofibromatosis Type 1
Corneal opacity, Precocious puberty, Abnormality of retinal pigmentation, Pheochromocytoma, Lisch... ORPHA:636
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias, Ectopia pupillae, Microcornea, Cataract, Sclerocornea OMIM:615877
Kosaki Overgrowth Syndrome
Proptosis OMIM:616592
Mend Syndrome
High palate, Low-set ears, Hypertelorism, Cleft palate, Cataract, Abnormal auditory evoked potent... ORPHA:401973
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Cleft palate, Megalocornea, Optic atrophy, Polycystic ovaries ORPHA:137675
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Preco... OMIM:194190
Jackson-Weiss Syndrome
Proptosis, Hypertelorism ORPHA:1540
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Tongu... OMIM:601596
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Proptosis ORPHA:157965
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Hypertelorism, Macroglossia, Micropenis, Bifid tongue, Clitoral hypoplasia, Proptos... OMIM:268310
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cleft palate, Micropenis, Microtia, Hypospadias, Absent gallbladder, Proptosis, Cryptorchidism, P... ORPHA:163979
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal opacity, Irregular astigmatism, Corneal stromal edema, ... ORPHA:293603
Primary Ciliary Dyskinesia
Conductive hearing impairment, Female infertility, Rod-cone dystrophy, Intestinal malrotation, Ma... ORPHA:244
Muenke Syndrome
Sensorineural hearing impairment, Proptosis, Hypertelorism, High, narrow palate ORPHA:53271
Schinzel-Giedion Syndrome
Annular pancreas, High palate, Large earlobe, Low-set ears, Abnormal helix morphology, Infantile ... ORPHA:798
Loeys-Dietz Syndrome
High palate, Hypertelorism, Bifid uvula, Uterine rupture ORPHA:60030
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Anal atresia, Malabsorption, Micropenis, Hypospadias, Septate v... OMIM:243800
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Sclerosteosis 1
Papilledema, Facial palsy, Irregular menstruation, Optic atrophy, Hearing impairment, Proptosis, ... OMIM:269500
Fetal Akinesia Deformation Sequence 1
High palate, Hypertelorism, High, narrow palate, Cleft palate, Short umbilical cord, Small placen... OMIM:208150
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis OMIM:618821
Cenani-Lenz Syndrome
Protruding ear, Hypertelorism, High, narrow palate, Proptosis, Cataract, Hearing impairment ORPHA:3258
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Proptosis, Deeply set eye OMIM:618707
Bohring-Opitz Syndrome
Low-set ears, Narrow palate, Supernumerary nipple, Intestinal malrotation, Hyperechogenic pancrea... OMIM:605039
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Ectopic anus, Anal atresia, Cleft palate, Hypospadias, Proptosis, Hearing impairment ORPHA:85199
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Goiter, Proptosis OMIM:275000
Meningioma