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Gene: Dlg1 MGI:107231

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

discs large MAGUK scaffold protein 1

Synonyms:

SAP97, B130052P05Rik, Dlgh1

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 Dlg1 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.

Human diseases associated with Dlg1 (1 diseases)
Human diseases predicted to be associated with Dlg1 (2193 diseases)

The table below shows human diseases associated to Dlg1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cleft Lip/Palate		Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B...	ORPHA:199306

The table below shows human diseases predicted to be associated to Dlg1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Caudal Duplication	Ureteral duplication, Renal hypoplasia/aplasia, Intestinal duplication, Myelomeningocele, Spina b...	ORPHA:1756
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Hydronephrosis, Cleft palate, Abnormality of the ...	ORPHA:1926
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Ureteral dysgenesis	OMIM:274265
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Death in infancy	OMIM:618845
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Death in infancy	OMIM:618240
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Unilateral renal dysplasia, Hematuria, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
7P22.1 Microduplication Syndrome	Abnormality of the kidney, Cryptorchidism	ORPHA:314034
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis, Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Caudal Regression Syndrome	Orofacial cleft, Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Anal atresia, Abnor...	ORPHA:3027
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Meier-Gorlin Syndrome 8	Narrow mouth, Bilateral cryptorchidism, Thick vermilion border, Nephroptosis, Unilateral renal hy...	OMIM:617564
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp...	OMIM:611555
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Anal atresia, Hydronephrosis, Pulmonary hypoplasia,...	OMIM:271520
Lessel-Kubisch Syndrome	Narrow mouth, Renal hypoplasia, Renal insufficiency, Hypogonadism	OMIM:618681
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Abnormality of the bladder, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis	ORPHA:2547
Prune Belly Syndrome	Hydroureter, Recurrent respiratory infections, Renal insufficiency, Abnormality of the bladder, R...	ORPHA:2970
Bardet-Biedl Syndrome 16	Respiratory distress, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease...	OMIM:615993
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Renal duplicati...	OMIM:270420
Bresek Syndrome	Aganglionic megacolon, Vesicoureteral reflux, Renal dysplasia, Decreased testicular size, Renal h...	ORPHA:85284
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Renal hypoplasia, Ab...	ORPHA:2470
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Macdermot-Winter Syndrome	Hypoplastic male external genitalia, Hydronephrosis, Death in infancy	OMIM:247990
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Neonatal death, Fetal megacystis	OMIM:619362
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Long philtrum, Thin vermilion border, Ureteral duplication, Anal stenosis, Gastroesophageal reflu...	OMIM:614080
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Bladder Exstrophy And Epispadias Complex	Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney	OMIM:600057
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Shawl scrotum, Cryptorchidism, Micropenis, Pineal cyst	OMIM:617516
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Narrow mouth, ...	ORPHA:1046
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Bifid uvula, Vaginal atresia, Hy...	OMIM:616258
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Ureteral duplication, Hypospadias, Abnormal dental enamel mor...	ORPHA:96169
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Rectal atresia, Miscarriage, Renal cyst, Anal atresia, Death in infa...	OMIM:613390
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Gastrointestinal hemorrhage, Gastro...	ORPHA:2869
Microcephaly 20, Primary, Autosomal Recessive	Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at...	OMIM:617914
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis, Abnormality of the philtrum, Mandibular prognathia, Corneal dystrophy,...	ORPHA:2673
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn...	OMIM:137920
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia	OMIM:236500
17Q21.31 Microduplication Syndrome	Delayed puberty, Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the de...	ORPHA:217340
Fryns Syndrome	Ureteral duplication, Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Wide mouth, Lon...	OMIM:229850
Bardet-Biedl Syndrome 19	External genital hypoplasia, Renal hypoplasia, Hydronephrosis, Hypogonadism, Renal insufficiency	OMIM:615996
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Retrognathia, Compulsive behaviors, Enuresis, Inflexible adherence to routines, Broad...	OMIM:613670
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Ureterocele	Ureterocele, Duplicated collecting system	OMIM:191650
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit ti...	OMIM:620045
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry...	OMIM:614723
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Syndromic X-Linked Intellectual Disability 7	Tooth malposition, Hypoplasia of penis, Abnormal dental morphology, Hypogonadism, Cryptorchidism,...	ORPHA:85274
Trichomegaly	Cataract	OMIM:190330
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Noonan Syndrome 4	Ureteral duplication, Hydronephrosis, Wide mouth, Thick vermilion border, Dental malocclusion, Cr...	OMIM:610733
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Renal hypoplasia/aplasia, Non-midline cleft of the upper lip, Abnormality of ...	ORPHA:1770
Perching Syndrome	High palate, Dysphagia, Feeding difficulties, Cyanosis, Depressed nasal bridge	OMIM:617055
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis, Oral ulcer, Vaginal mucosal ulceration	OMIM:618287
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Diphallia	Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo...	ORPHA:227
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Thin vermilion border, Hypospadias, Renal agenesis, Renal hypoplasia, Umbilical hernia, Long phil...	ORPHA:171839
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Open mouth, Aplasia of the vagina	ORPHA:457284
Image Syndrome	Cryptorchidism, Hypospadias, Hypogonadism, Hydronephrosis	ORPHA:85173
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Gastroesophageal reflux, Renal hypoplasia, Hydron...	OMIM:618494
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis...	OMIM:236700
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal t...	ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida, Renal hypoplasia, Smooth philtrum, Shawl scrotum, Micropenis, Thin upper lip vermilion	OMIM:620439
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro...	OMIM:191800
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Ectopic kidney, Unilateral renal agenesis	OMIM:601076
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Focal Dermal Hypoplasia	Ureteral duplication, Myelomeningocele, Intestinal malrotation, Umbilical hernia, Labial hypoplas...	OMIM:305600
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Testicular Anomalies With Or Without Congenital Heart Disease	Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi...	OMIM:615542
46,Xy Sex Reversal 4	Gonadal dysgenesis, Long philtrum, Hypoplastic labia majora, High palate, Anal atresia, Hypergona...	OMIM:154230
Knobloch Syndrome	Pyloric stenosis, Occipital encephalocele, Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Thin vermilion border, Gingival overgrowth, Vesicoureteral reflux, Pseudohypoparathyroidism, Rena...	ORPHA:464288
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia	OMIM:600151
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Death in infancy, Hypoperistalsis, Megacystis, Multicystic kidney dysplasia	ORPHA:2241
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Megacystis, Hydronephrosis, Hydroureter	OMIM:619431
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Shawl scrotum, Cryptorchidism, Renal hypoplasia, Hypoplasia of penis	ORPHA:2256
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy	OMIM:601389
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Hypoplasia of penis, Bifid scrotum, Everted lower lip vermilion, Abnor...	ORPHA:85321
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Orofaciodigital Syndrome Xvii	Renal hypoplasia, High, narrow palate, Micropenis, Median cleft upper lip	OMIM:617926
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Ureteral duplication, Long philtrum, Duplication of renal pelvis, Endometria...	ORPHA:457212
Noonan Syndrome 9	Hydroureter	OMIM:616559
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Short stature, Micrognathia, Cleft palate, Thin upper lip vermilion	ORPHA:2015
Congenital Myopathy 19	High palate, Hydronephrosis, Dysphagia, Cryptorchidism, Renal atrophy	OMIM:618578
Duplication Of Urethra	Clitoral hypertrophy, Urinary incontinence, Anorectal anomaly, Bifid scrotum, Bladder duplication...	ORPHA:237
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t...	ORPHA:3109
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Abnor...	ORPHA:2166
Wolfram Syndrome 1	Neurogenic bladder, Hydronephrosis, Hydroureter	OMIM:222300
Mungan Syndrome	Renal hypoplasia, Hypoperistalsis, Vesicoureteral reflux	OMIM:611376
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:614840
Ventriculomegaly With Defects Of The Radius And Kidney	Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney	OMIM:602200
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Meckel Syndrome, Type 8	Abdominal distention, Short nose, Enlarged kidney, Occipital encephalocele, Encephalocele, Polycy...	OMIM:613885
Rudiger Syndrome	Bicornuate uterus, Death in infancy, Ovarian cyst, Ureterovesical stenosis, Micropenis	OMIM:268650
Malaria	Acute kidney injury, Respiratory distress	ORPHA:673
Distal Limb Deficiencies-Micrognathia Syndrome	High palate, Narrow mouth, Microdontia, Renal hypoplasia, Cleft palate, Proteinuria, Microglossia...	ORPHA:1307
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R...	ORPHA:2842
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis...	OMIM:613496
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Hadziselimovic Syndrome	Thick lower lip vermilion, High palate, Pulmonary artery atresia, Anal atresia, Renal hypoplasia,...	OMIM:612946
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Marden-Walker Syndrome	High, narrow palate, Hypospadias, High palate, Narrow mouth, Pyloric stenosis, Renal hypoplasia, ...	OMIM:248700
Lethal Osteosclerotic Bone Dysplasia	Short nose, Retrognathia, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula...	ORPHA:1832
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Thauvin-Robinet-Faivre Syndrome	Renal cyst, Bifid ureter, Thick vermilion border, Renal dysplasia, Renal malrotation, Nephroblast...	OMIM:617107
Penile Agenesis	Rectal fistula, Hydroureter, Bilateral lung agenesis, Anorectal anomaly, Abnormality of the bladd...	ORPHA:49
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Death in childhood, Renal hypoplasia, Aminoaciduria, Lacticaciduria	OMIM:604273
Bardet-Biedl Syndrome 4	Abnormality of the kidney, External genital hypoplasia, Abnormality of the dentition, Renal cyst,...	OMIM:615982
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf...	ORPHA:223
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Even-Plus Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, High palate, Anal atresia, Renal hypop...	OMIM:616854
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele...	ORPHA:322
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th...	OMIM:617666
Bladder Exstrophy	Epispadias, Bladder exstrophy, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urina...	ORPHA:93930
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Death in childhood, Renal tubular acidosis, Renal cyst, Death in infancy, Renal hypop...	OMIM:614922
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Cloacal Exstrophy	Renal hypoplasia/aplasia, Abnormal clitoris morphology, Ectopic kidney, Abnormal fallopian tube m...	ORPHA:93929
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis	ORPHA:1074
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia	OMIM:276950
Microphthalmia With Limb Anomalies	Thin vermilion border, High palate, Death in infancy, Short stature, Cleft upper lip, Hypoplasia ...	ORPHA:1106
Knobloch Syndrome 1	Occipital encephalocele, Duplicated collecting system, Spina bifida occulta, Pyloric stenosis, Oc...	OMIM:267750
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Abnormal lower lip morphology, Vesicoureteral reflux, Tooth agenesis, C...	ORPHA:1166
Vacterl/Vater Association	Occipital encephalocele, Hypospadias, Anencephaly, Hypoplasia of penis, Ectopic kidney, Non-midli...	ORPHA:887
Trisomy 13	Abnormal lung lobation, High, narrow palate, Abnormality of the dentition, Abnormality of the ure...	ORPHA:3378
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Hepatocellular carcinoma, Tes...	OMIM:180860
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Emanuel Syndrome	Unilateral renal agenesis, Gastroesophageal reflux, Recurrent urinary tract infections, Dental cr...	OMIM:609029
Hao-Fountain Syndrome	Cryptorchidism, Micropenis	OMIM:616863
Coloboma Of Macula-Brachydactyly Type B Syndrome	Renal agenesis	ORPHA:1471
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Spina bifida occulta, Bifid ureter, Thick vermilion border, Nephroblastoma, Rena...	ORPHA:500095
Bowen-Conradi Syndrome	Abnormal lung lobation, Orofacial cleft, Cryptorchidism, Death in infancy	ORPHA:1270
Microphthalmia, Syndromic 9	Bilateral lung agenesis, Alveolar capillary dysplasia, Pelvic kidney, Pulmonary artery atresia, B...	OMIM:601186
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
3Q13 Microdeletion Syndrome	Long philtrum, Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis	ORPHA:1621
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Micropenis, Crossed fused renal ectopia	OMIM:618142
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Spina bifida occulta, Meningocele, Anomalous pulmonary venous return, Abnormality of...	ORPHA:2311
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, High palate, Penile ...	ORPHA:456328
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Polycystic kidney dysplasia, Short lingual frenulum, High palate, Micro...	OMIM:614091
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Oligodontia, Narrow mouth, Renal hypoplasia, Downturned corners of mouth, Cryptorchidism	OMIM:616817
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Abnormal palate morphology, Short nose, Gastroesophageal reflux, Narrow mouth, Death in infancy, ...	ORPHA:1495
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Gastrointestinal carcinoma, Pre...	OMIM:175200
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Horseshoe kidney, Unilateral renal agenesis	OMIM:613680
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Codas Syndrome	Hydroureter	ORPHA:1458
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Tachypnea, Respiratory distress	OMIM:263000
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Abnormal oral cavity morphology, Hypospadias, Anteverted nares, Narrow mouth, Depress...	ORPHA:1355
Lumbar Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Myelomeningocele, Spina bifida, ...	ORPHA:83628
Isolated Polycystic Liver Disease	Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Multi...	ORPHA:2924
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
Diaphanospondylodysostosis	Multiple renal cysts, Respiratory distress	ORPHA:66637
Ehlers-Danlos Syndrome, Classic-Like, 1	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycysti...	OMIM:608836
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Non-midline cleft of the upper lip, ...	ORPHA:2059
Oeis Complex	Ambiguous genitalia, male, Myelomeningocele, Intestinal malrotation, Labial hypoplasia, Pelvic ki...	OMIM:258040
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Stillbirth	ORPHA:294975
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux	OMIM:613735
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Uterus didelphys, Hydrocolpos, Renal agenesis, Abnormal uterine cervix mo...	ORPHA:3411
Congenital Pancreatic Cyst	Anorexia, Abdominal distention, Jaundice, Abdominal pain, Vomiting	ORPHA:313906
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Aganglionic megacolon, Glandular hypospadias, Ectopic...	ORPHA:2473
Emanuel Syndrome	Unilateral renal agenesis, Gastroesophageal reflux, Tooth malposition, Delayed eruption of teeth,...	ORPHA:96170
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hydronephrosis, Crypto...	OMIM:619797
Small Bowel Atresia	Abdominal distention, Intestinal hypoplasia, Short stature, Intestinal malrotation, Vomiting, Fee...	ORPHA:1201
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Renal insufficiency, Abnormal vagina morphology	ORPHA:2123
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Abnormality of the ureter, Hypogonadism, Crypto...	ORPHA:3409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis	OMIM:615398
Distal Duplication 6P	Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system	ORPHA:1745
Meckel Syndrome	Ureteral duplication, Anencephaly, Encephalocele, Multicystic kidney dysplasia, Pancreatic fibros...	ORPHA:564
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Encephalocele, Renal cyst, Anal atresia, Renal hypoplasia, Incomplete cleft of the up...	OMIM:616300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, High palate, Absent nipple, Hydronephrosis, Umbilical hernia	OMIM:104350
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Bardet-Biedl Syndrome	Hypoplasia of penis, Hypoplasia of the ovary, Dental crowding, Microdontia, Multiple renal cysts,...	ORPHA:110
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus...	ORPHA:2237
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male...	OMIM:194080
Waardenburg Syndrome, Type 1	Orofacial cleft, Aplasia of the vagina, Myelomeningocele, Spina bifida, Smooth philtrum	OMIM:193500
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Pallister-Hall Syndrome	Ectopic kidney, Decreased response to growth hormone stimulation test, Cleft palate, Micropenis, ...	OMIM:146510
Pseudotrisomy 13 Syndrome	Encephalocele, Bicornuate uterus, Anal atresia, Median cleft palate, Renal agenesis, Renal hypopl...	OMIM:264480
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis	ORPHA:3055
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Braddock Syndrome	Unilateral renal agenesis	ORPHA:52047
Isolated Hemihyperplasia	Nephroblastoma, Cryptorchidism, Abnormality of the dentition, Myelomeningocele	ORPHA:2128
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Hypospadias, Non-midline cleft of the upper lip, Abno...	ORPHA:3080
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis	ORPHA:568
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Familial Visceral Myopathy	Megacystis, Vesicoureteral reflux, Hydroureter	ORPHA:2604
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea...	OMIM:614376
16P11.2P12.2 Microduplication Syndrome	Cleft palate, Hypospadias	ORPHA:261204
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Hydronephrosis, Congenital megaureter	ORPHA:2437
Recessive Dystrophic Epidermolysis Bullosa Inversa	Gastrointestinal inflammation, Vaginal stricture, Esophageal stricture, Carious teeth, Urethral s...	ORPHA:79409
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria	OMIM:619053
Houge-Janssens Syndrome 2	Unilateral renal agenesis	OMIM:616362
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Panhypopituitarism, Cleft palate, Recurren...	OMIM:616784
Verheij Syndrome	Long philtrum, Short nose, Retrognathia, Anteverted nares, Branchial cyst, Renal cyst, Short stat...	OMIM:615583
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Renal hypoplasia, Respiratory distress	ORPHA:254913
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Spina bifida occulta, Labial hypoplasia,...	OMIM:300707
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Müllerian Aplasia And Hyperandrogenism	Short philtrum, Abnormal vagina morphology, Abnormality of the ovary, Renal agenesis, Cleft palat...	ORPHA:247768
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Abnormal renal corticomedullary differentiation, Respiratory distress	OMIM:616733
Fliedner-Zweier Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Wide mouth, Umbilical hernia, Long philtrum, Hypo...	ORPHA:709
Severe Acute Respiratory Syndrome	Acute kidney injury, Dyspnea, Respiratory distress	ORPHA:140896
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Dextrocardia	Abnormal lung lobation, Meckel diverticulum, Abnormal renal morphology, Pancreatic hypoplasia, Ab...	ORPHA:1666
Cach Syndrome	Gonadal dysgenesis, Renal hypoplasia, Dysphagia	ORPHA:135
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Ulnar-Mammary Syndrome	Breast aplasia, Hypoplasia of penis, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric ste...	ORPHA:3138
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pelvic kidney, Vesicoureteral reflux, Micr...	OMIM:603467
Adams-Oliver Syndrome 6	Renal hypoplasia	OMIM:616589
Achondrogenesis Type 1A	Short nose, Abdominal distention, Anteverted nares, Micrognathia, Severe short stature, Umbilical...	ORPHA:93299
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Oral-pharyngeal dysphagia, Palate fistula, B...	ORPHA:199306
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Ureteral duplication, Hydroureter, Hypospadias, Multicystic kidney dysplasia...	ORPHA:373
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias, Respiratory distress	OMIM:300934
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Intestinal pseudo-obstruction, Increased size of the mandible, Congenital s...	OMIM:300048
Non-Distal Duplication 10Q	Short nose, High palate, Everted lower lip vermilion, Short stature, Micrognathia, Convex nasal r...	ORPHA:1695
Short Stature-Wormian Bones-Dextrocardia Syndrome	Renal hypoplasia/aplasia, Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar rid...	ORPHA:2863
Congenital Myopathy 17	High palate, Renal hypoplasia, Hydronephrosis, Cleft palate, Ureteropelvic junction obstruction, ...	OMIM:618975
Renal, Genital, And Middle Ear Anomalies	Renal hypoplasia/aplasia, Vaginal atresia	OMIM:267400
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc...	ORPHA:753
Johanson-Blizzard Syndrome	Abnormality of the female genitalia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology...	ORPHA:2315
Endocardial Fibroelastosis	Abnormal palate morphology, Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis	ORPHA:2022
Pierpont Syndrome	Thin vermilion border, Short nose, Widely spaced teeth, Wide nose, Long upper lip, Prominent medi...	OMIM:602342
Qazi-Markouizos Syndrome	Abdominal distention, High, narrow palate, Hypoplasia of teeth, Prominent nasal bridge, Open mout...	ORPHA:3010
Cornelia De Lange Syndrome 1	Ectopic kidney, Abnormal renal morphology, Malrotation of colon, Long philtrum, Hypospadias, Clef...	OMIM:122470
Microphthalmia, Syndromic 12	Bicornuate uterus, Intestinal malrotation, Cleft palate, Neonatal death, Pulmonary hypoplasia, Cr...	OMIM:615524
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Gastroesophageal reflux, Anteverted nares, Glossoptosis, High palate, Short stature, ...	OMIM:613604
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Decreased small int...	ORPHA:103907
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age...	ORPHA:1248
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Popliteal Pterygium Syndrome	Spina bifida occulta, Bifid scrotum, Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnath...	OMIM:119500
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Cleft Velum	Oral-pharyngeal dysphagia, Cleft soft palate, Poor suck, Nasal regurgitation, Hypoplasia of the m...	ORPHA:99772
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Adiposis Dolorosa	Constipation, Abdominal distention, Painful subcutaneous lipomas	OMIM:103200
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin...	OMIM:273250
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux, Hypoplastic facial bones, Feeding difficulties, Microre...	OMIM:619793
Coloboma Of Macula With Type B Brachydactyly	Renal agenesis	OMIM:120400
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Suleiman-El-Hattab Syndrome	Thick lower lip vermilion, High palate, Downturned corners of mouth, Hydronephrosis, Wide mouth, ...	OMIM:618950
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Trisomy 1Q	Congenital megaureter, Narrow mouth, Anal atresia, Hydronephrosis, Cleft palate, Small scrotum, A...	ORPHA:261344
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Bicornuate uterus, Pulmonary hypoplasia, Proteinuria, Vaginal atresia, ...	OMIM:191830
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter, High palate, Umbilical hernia	ORPHA:1035
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Meckel diverticulum, Aplasia of the uterus, Vesicoureter...	OMIM:274000
Mosaic Trisomy 14	Hypospadias, Hypoplasia of penis, Ectopic anus, High palate, Cleft palate, Wide mouth, Cryptorchi...	ORPHA:1703
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Autosomal Recessive Amelia	Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Small scrotum, Cryptorc...	ORPHA:1027
Athyreosis	Abdominal distention, Growth delay, Short stature, Constipation, Feeding difficulties, Macroglossia	ORPHA:95713
Amyloidosis, Finnish Type	Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis...	OMIM:105120
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Death in infancy, Neonatal death, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla	ORPHA:2975
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	3-Methylglutaconic aciduria, Apnea, Neonatal death	OMIM:615228
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hypospadias, Gastroesophageal reflux	ORPHA:250994
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Triangular mouth, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydr...	OMIM:618460
Recombinant Chromosome 8 Syndrome	Thick lower lip vermilion, Gingival overgrowth, Abnormality of the dentition, Downturned corners ...	OMIM:179613
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Proximal tubulopathy, Aminoaciduria, Respiratory distress	OMIM:612075
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Horseshoe kidney, Anal atresia	OMIM:619318
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hypospadias, Abnormality of the ureter	ORPHA:2522
Bardet-Biedl Syndrome 6	Renal cyst, External genital hypoplasia, Hypospadias, Vaginal atresia	OMIM:605231
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Breast aplasia, Delayed eruption of teeth, Recur...	ORPHA:2036
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li...	ORPHA:401942
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Meacham Syndrome	Hydrometrocolpos, Abnormal lung lobation, Abnormal fallopian tube morphology, Hypoplasia of penis...	ORPHA:3097
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis, Spina bifida occulta	OMIM:618060
Wolman Disease	Vomiting, Abdominal distention, Acute hepatic failure, Death in infancy	OMIM:620151
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancre...	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Iil	Proximal tubulopathy, Hyperechogenic kidneys, Unilateral renal agenesis, Death in infancy	OMIM:614576
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple...	OMIM:216360
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Short nose, Gastroesophageal reflux, Slender nose, Constipation, Mi...	OMIM:615419
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Hypodontia, Bilateral cleft palate, Abnormal dental enamel morp...	ORPHA:3253
Endove Syndrome, Limb-Only Type	Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Hypoplastic labia majora	OMIM:619217
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Joubert Syndrome 37	High palate, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Respiratory distres...	ORPHA:79404
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Juvenile cataract, Short stature, Growth delay, Smooth philtrum, Long philtrum, Thin ...	ORPHA:438178
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull...	OMIM:617610
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Abnormality of the urinary system, Anteverted nares, Narrow mouth, De...	ORPHA:2412
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Downturned corners of mouth, Hydronephrosis, Gastrointestinal dysmoti...	ORPHA:531151
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Nausea and vomiting, Ectopia lentis, Thick vermilion border, Long philtrum, Aminoacid...	ORPHA:833
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Pallister-Hall Syndrome	Ectopic kidney, Thyroid hypoplasia, Bifid uvula, Umbilical hernia, Small scrotum, Accessory oral ...	ORPHA:672
Mehmo Syndrome	External genital hypoplasia, Hypoplasia of penis, Downturned corners of mouth, Thick vermilion bo...	ORPHA:85282
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr...	ORPHA:261265
Cataract 47	Cataract, Microcornea	OMIM:612018
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Thin vermilion border, Renal hypoplasia/aplasia, Hydrouret...	ORPHA:289
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Hypospadias, Hypoplasia of penis, Anal atresia, Cryptorchidism	ORPHA:1381
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short philtrum, Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis...	OMIM:618454
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Mitochondrial Pyruvate Carrier Deficiency	Organic aciduria, Respiratory distress	OMIM:614741
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micr...	ORPHA:261120
Short-Rib Thoracic Dysplasia 12	Atelectasis, Anencephaly, Hypoplastic nipples, Median cleft palate, Intestinal malrotation, Renal...	OMIM:269860
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Everted lower lip vermilion, Pulmonary artery stenosis, Re...	ORPHA:75389
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infect...	ORPHA:363444
Toluene Embryopathy	Thin vermilion border, Hydronephrosis, Smooth philtrum, Abnormal localization of kidney, Cryptorc...	ORPHA:1920
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Trisomy 20P	Abnormality of the kidney, Abnormal palate morphology, Thin vermilion border, Hypospadias, Short ...	ORPHA:261318
Chung-Jansen Syndrome	Thin vermilion border, Short nose, Short philtrum, Anteverted nares, High palate, Impulsivity, At...	OMIM:617991
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Renal cyst	OMIM:174050
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria	ORPHA:26792
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Cleft upper lip, Cleft palate, Gonadal dysgenesis, male	OMIM:231060
Trisomy 4P	Abnormal palate morphology, Hypospadias, Abnormality of the dentition, Carious teeth, Smooth phil...	ORPHA:1738
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Bifid scrotum, Urethral diverticulum, Anal atresia, Cleft palate, Displacemen...	ORPHA:95706
Malan Syndrome	Short nose, Advanced eruption of teeth, Retrognathia, Astigmatism, Gingival overgrowth, Mandibula...	OMIM:614753
Beckwith-Wiedemann Syndrome	Large placenta, Ureteral duplication, Enlarged kidney, Abnormal pancreas morphology, Congenital m...	ORPHA:116
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Anteverted nares, Micrognathia, Umbilical hernia, Nephroblastoma, Protuberant ab...	OMIM:618272
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Acrocephalopolydactyly	Short nose, Protuberant abdomen, Depressed nasal ridge, Abnormal renal morphology	ORPHA:221054
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Hyposthenuria, An...	OMIM:615926
Developmental And Epileptic Encephalopathy 73	Short nose, Narrow nasal bridge, Restlessness, Cataract, Feeding difficulties in infancy	OMIM:618379
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Constipation, Malabsorption,...	OMIM:613662
Serkal Syndrome	Orofacial cleft, Hypospadias, Renal agenesis, Pulmonary hypoplasia, Malrotation of small bowel, H...	ORPHA:139466
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Widely spaced teeth, Recurrent respi...	OMIM:266920
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Submucous cleft hard palate, Renal hypoplasia, Bifid uvula, Spinal dysraphism	OMIM:617660
Currarino Syndrome	Perianal abscess, Urinary incontinence, Anal stenosis, Rectovaginal fistula, Recurrent urinary tr...	OMIM:176450
14Q24.1Q24.3 Microdeletion Syndrome	Ectopic kidney, Pulmonary artery atresia, Intestinal malrotation, Smooth philtrum, Long philtrum,...	ORPHA:401935
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Downturned corners of mouth, Micrognat...	OMIM:614744
Fanconi Anemia, Complementation Group I	Abnormal renal morphology, Vesicoureteral reflux, Horseshoe kidney, Renal hypoplasia	OMIM:609053
Meacham Syndrome	Blind vagina, Stillbirth, Enlarged kidney, Death in childhood, Cardiac total anomalous pulmonary ...	OMIM:608978
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Severe short stature, Acrocyanosis	OMIM:302000
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Hypodontia, Minimal change glomerulonephritis, Nephrotic range proteinuria,...	ORPHA:1830
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Craniosynostosis, Herrmann-Opitz Type	Short nose, Abnormality of the upper urinary tract, Short stature, Micrognathia, Cleft palate, Ma...	ORPHA:2145
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Hypogonadism...	ORPHA:3363
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Short nose, Narrow mouth, Corneal opacity, Short stature, Intrauterine gro...	ORPHA:2370
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Umbilical hernia, Long philtrum, Agenesis of maxillar...	OMIM:261540
Teebi Hypertelorism Syndrome 2	Short nose, Hypospadias, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Mic...	OMIM:619736
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Micropenis, Respiratory distress	OMIM:615597
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Neonatal death	OMIM:300076
Nephrotic Syndrome, Type 1	Abdominal distention, Gastroesophageal reflux, Glomerular sclerosis, Congenital nephrotic syndrom...	OMIM:256300
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadotropic hypogonad...	OMIM:275400
Pseudovaginal Perineoscrotal Hypospadias	Ambiguous genitalia, male, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis	OMIM:264600
Diaphanospondylodysostosis	Short nose, Enlarged kidney, Cystic renal dysplasia, Nephroblastomatosis, Depressed nasal ridge, ...	OMIM:608022
Weiss-Kruszka Syndrome	Short nose, Tube feeding, Prominent nasal tip, Exaggerated cupid's bow, Feeding difficulties, Bro...	ORPHA:502430
Carpenter Syndrome 1	Hydronephrosis, Hydroureter	OMIM:201000
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Aplasia of the uterus, Tracheoesophageal fistula, ...	OMIM:614083
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, High palate, Short stature, Umbilical hernia, Micrognathia, Broad nasal tip, Prominen...	OMIM:613544
Tetraploidy	Renal hypoplasia/aplasia, Short philtrum, Cleft palate, Hydronephrosis, Aplasia/Hypoplasia of the...	ORPHA:3305
Chand Syndrome	Hydroureter, Atelectasis, Agenesis of maxillary incisor, Imperforate hymen, Commissural lip pit, ...	ORPHA:1401
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:146110
Distal Deletion 10P	Hypoplasia of penis, Non-midline cleft of the upper lip, Ectopic anus, Anal atresia, Cleft palate...	ORPHA:1580
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Renal insufficiency, Tu...	OMIM:617595
Intellectual Developmental Disorder, X-Linked 103	Micropenis, Wide mouth, Bilateral cryptorchidism	OMIM:300982
Neuralgic Amyotrophy	Narrow mouth, Short stature, Bifid uvula, Cleft palate, Acrocyanosis	ORPHA:2901
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Death in infancy, Hydroneph...	OMIM:235255
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Mosaic Trisomy 9	Tessier cleft, Abnormal lung lobation, Hypoplastic female external genitalia, Abnormal fallopian ...	ORPHA:99776
Schizophrenia 1	Renal agenesis, Ectopic kidney, Partially duplicated kidney	OMIM:181510
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis	OMIM:620454
Smith-Lemli-Opitz Syndrome	Broad alveolar ridges, Dental crowding, Bifid scrotum, Death in infancy, Intestinal malrotation, ...	OMIM:270400
Smith-Magenis Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Delayed eruption of primary teeth, Taurodontia, Short ...	ORPHA:819
Townes-Brocks Syndrome 2	Hypospadias, Spina bifida occulta, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bif...	OMIM:617466
Perlman Syndrome	Short nose, High, narrow palate, Retrognathia, Hypoplasia of penis, Broad alveolar ridges, Anteve...	ORPHA:2849
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Nephroblastoma, Horseshoe kidney	OMIM:610832
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Death in infancy, Short stature, Micrognathia, Cleft palate,...	OMIM:241800
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Steatorrhea, Orofacial cleft, Abnormal small intesti...	ORPHA:92050
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Intestinal malrotation, Downturned corners of mouth, Cleft palate, Hydro...	ORPHA:457193
Hereditary Mucoepithelial Dysplasia	Hematuria, Anorectal anomaly, Abnormality of the bladder, Gingival overgrowth, Furrowed tongue, T...	ORPHA:1839
Gordon Syndrome	Cryptorchidism, High palate, Cleft palate	ORPHA:376
Achondrogenesis, Type Ib	Neonatal short-limb short stature, Abdominal distention, Stillbirth, Malar flattening, Umbilical ...	OMIM:600972
Trisomy 17P	Orofacial cleft, Hypoplasia of penis, Polycystic kidney dysplasia, High palate, Narrow mouth, Ure...	ORPHA:261290
Clark-Baraitser Syndrome	Short nose, Short philtrum, Low hanging columella, Hyperactivity, Anteverted nares, Exaggerated c...	OMIM:617752
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Pulmonary artery atresia, Total anomalous pulmonary venous return, Ureteral...	OMIM:270100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Ectopic ...	OMIM:235510
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Long philtrum, Abdominal distention, Protein-losing enteropathy, Diarrh...	OMIM:608104
Restrictive Dermopathy 1	Short umbilical cord, Stillbirth, Ureteral duplication, Hypospadias, Narrow mouth, Hydropic place...	OMIM:275210
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract	ORPHA:2995
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten...	ORPHA:2972
Van Maldergem Syndrome 2	Hypospadias, Hypoplastic nipples, Bifid scrotum, High palate, Irregular dentition, Renal hypoplas...	OMIM:615546
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Short upper lip, Hydronephrosis, Thick vermilion border, Open mout...	ORPHA:364028
Raine Syndrome	Hydronephrosis, Hydroureter, Neonatal death, Death in infancy	OMIM:259775
Lowry-Maclean Syndrome	Short nose, High, narrow palate, Retrognathia, Developmental glaucoma, Hypospadias, Midgut malrot...	ORPHA:2409
12Q14 Microdeletion Syndrome	Thin vermilion border, Ectopic kidney, Intestinal malrotation, Renal hypoplasia, Downturned corne...	ORPHA:94063
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, High palate,...	ORPHA:314588
Alfadhel Syndrome	Horseshoe kidney, Nasal flaring	OMIM:620655
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Orofacial cleft, Narrow mouth, Anal atresia, Vaginal atresia, Cryptorchid...	ORPHA:3301
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Umbilical hernia, Renal hypoplasia, Wide mouth, Median pseudocleft lip, Recurrent respiratory inf...	OMIM:619758
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Intestinal malrotation, Pulmonary hypoplasia, Multicystic kidney dysplasia	ORPHA:3032
X-Linked Intellectual Disability, Siderius Type	Decreased testicular size, Orofacial cleft, Cryptorchidism, Cleft upper lip	ORPHA:85287
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Robinow Syndrome, Autosomal Dominant 2	Short nose, Calvarial osteosclerosis, Triangular mouth, Cleft soft palate, Dental crowding, Oligo...	OMIM:616331
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric...	ORPHA:79403
Baker-Gordon Syndrome	Short nose, Gastroesophageal reflux, Prominent nasal tip, Feeding difficulties, Smooth philtrum, ...	OMIM:618218
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstructive azoospermia...	ORPHA:1646
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Cryptorchidism, Nephrocalcinosis	OMIM:615633
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Microdontia, Ureterocele, Urethral stenosis, Transverse vaginal septum, Decreased response to gro...	OMIM:604292
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hypogonadism, A...	ORPHA:752
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Aganglionic megacolon, Thick lower lip vermilion, Gastroesophageal ref...	ORPHA:847
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot...	OMIM:140000
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux	OMIM:618265
Shashi-Pena Syndrome	Unilateral renal agenesis	OMIM:617190
Myotubular Myopathy With Abnormal Genital Development	Ambiguous genitalia, male, Atelectasis, Hypospadias, Glandular hypospadias, Bifid scrotum, High p...	OMIM:300219
Pallister-Killian Syndrome	Aplasia of the uterus, Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mou...	OMIM:601803
Genitopatellar Syndrome	Long philtrum, Clitoral hypertrophy, Gastroesophageal reflux, Delayed eruption of teeth, Hydronep...	ORPHA:85201
Chromosome 19Q13.11 Deletion Syndrome, Distal	Postnatal growth retardation, Thin vermilion border, Short nose, Retrognathia, Solitary median ma...	OMIM:613026
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Peho-Like Syndrome	Short nose, Retrognathia, Feeding difficulties, Open mouth	OMIM:617507
Recon Progeroid Syndrome	Thin vermilion border, Keratoconjunctivitis sicca, Cutaneous photosensitivity, Dental crowding, N...	OMIM:620370
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Cryptorchidism, Hydronephrosis, Hypoplasia of penis	ORPHA:2083
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Cleft palate, Abnormal localization of kidney, Cryptorch...	ORPHA:921
Intellectual Developmental Disorder, X-Linked 106	Hypospadias, Decreased testicular size, Thick vermilion border, Open mouth, Cryptorchidism, Thin ...	OMIM:300997
Phakomatosis Pigmentokeratotica	Pheochromocytoma, Renal transitional cell carcinoma, Spina bifida, Precocious puberty, Nephroblas...	ORPHA:2874
Renal Agenesis, Bilateral	Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal...	ORPHA:1848
Interstitial Cystitis	Abnormal labia morphology, Abnormal vagina morphology, Abnormality of the bladder, Pollakisuria, ...	ORPHA:37202
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren...	ORPHA:158684
Kleefstra Syndrome	Advanced eruption of teeth, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insu...	ORPHA:261494
Thomas Syndrome	Cleft upper lip, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate	ORPHA:3316
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Frontonasal Dysplasia 1	Short columella, Bifid nasal tip, Anterior basal encephalocele, Median cleft palate, Hypoplastic ...	OMIM:136760
Diarrhea 12, With Microvillus Atrophy	Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ...	OMIM:619445
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis	OMIM:278300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abdominal distention, Abnormality of the kidney, Short stature, Growth delay, Pr...	ORPHA:369
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Macrodontia	OMIM:300577
Senior-Boichis Syndrome	Tubular luminal dilatation, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Red...	ORPHA:84081
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Nephrotic syndrome, V...	ORPHA:49041
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Transverse vaginal septum, Decreased response to growth hormone stimula...	OMIM:129900
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Anteverted nares, Short stature, Hypoxemia, Micrognat...	ORPHA:2282
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Abruzzo-Erickson Syndrome	Cleft palate, Hypospadias	OMIM:302905
Foxp1 Syndrome	Short nose, Retrognathia, Abnormality of the kidney, Mandibular prognathia, Constipation, Attenti...	ORPHA:391372
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Tooth malposition, Renal hypoplasia, Cryptorchidism, M...	OMIM:616541
Retinitis Pigmentosa 59	Cryptorchidism, Micropenis, Renal insufficiency	OMIM:613861
Hereditary Orotic Aciduria	Orotic acid crystalluria, Oroticaciduria, Aminoaciduria, Abnormality of the ureter	ORPHA:30
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, High palate, Cleft upper lip, Hydronephrosis, Cleft pa...	OMIM:602418
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Esophageal atresia, Hypoplasia of penis, Ectopic anus, Renal cyst, Anal atresia, U...	ORPHA:93271
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia	OMIM:618914
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Long nose, Short nose, Short philtrum, Delayed eruption of teeth, Low hanging co...	OMIM:615866
Orofaciodigital Syndrome Xix	Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro...	OMIM:620107
Ohdo Syndrome	Thin vermilion border, Short nose, Widely spaced teeth, Anteverted nares, Narrow mouth, Short sta...	OMIM:249620
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Alagille Syndrome	Renal hypoplasia/aplasia, Spina bifida occulta, Short philtrum, Abnormality of the ureter, Nephro...	ORPHA:52
Volvulus Of Midgut	Abdominal distention, Intestinal malrotation, Constipation, Volvulus, Neonatal intestinal obstruc...	OMIM:193250
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Feedin...	OMIM:618506
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Fraser Syndrome 3	Stillbirth, Hypoplasia of penis, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of the b...	OMIM:617667
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Anal atresia, Cleft palate, H...	OMIM:220210
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hypospadias, Short philtrum, Gastroesophageal reflux, High palate, Everted ...	OMIM:616449
Lead Poisoning	Delayed puberty, Anorexia, Abdominal distention, Delayed eruption of teeth, Abdominal pain, Misca...	ORPHA:330015
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode, Micrognathia, Depressed nasal bridge, Intrauterine growth retardation, Nasogast...	ORPHA:284417
22Q11.2 Duplication Syndrome	Hydronephrosis, Displacement of the urethral meatus, Cleft palate, Smooth philtrum, Urethral sten...	ORPHA:1727
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Abdominal distention, Constipation, Prolonged neonatal jaundice, Umbilical hernia, Macroglossia, ...	ORPHA:226313
Fraser Syndrome 1	Tessier cleft, Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Dental...	OMIM:219000
Intellectual Developmental Disorder, X-Linked 30	Short nose, Agitation, Hyperactivity, Anteverted nares, High palate, Short stature, Thick upper l...	OMIM:300558
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Upturned corners of mouth, Wide mouth, Long philtrum, Cryptorchidism, Micropeni...	OMIM:614684
Silver-Russell Syndrome	Thin vermilion border, Hypospadias, Gastroesophageal reflux, Abnormal vagina morphology, Abnormal...	ORPHA:813
Restrictive Dermopathy	Short umbilical cord, Large placenta, Ureteral duplication, Small placenta, Hypospadias, Narrow m...	ORPHA:1662
Fg Syndrome 5	Short nose, Hypospadias, Anteverted nares, Chronic constipation, Long philtrum, Diastema, Depress...	OMIM:300581
Intellectual Developmental Disorder, X-Linked 98	Long nose, Urinary incontinence, Hyperactivity, Bruxism, Aggressive behavior, Short philtrum, Epi...	OMIM:300912
Proximal Xq28 Duplication Syndrome	Everted lower lip vermilion, Cryptorchidism, Tented upper lip vermilion, Hypospadias	ORPHA:1762
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Hypospadias, Hyperactivity, Anteverted nares, Mandibular prognathia, Malar flattening...	OMIM:614613
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Orofacial cleft, Gastroesophageal reflux, Hypoplastic male external genitalia, High palate, Wide ...	ORPHA:502434
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Hydronephrosis, Neo...	OMIM:314390
Vici Syndrome	Death in infancy, Ureteral atresia, Renal tubular acidosis	ORPHA:1493
Micro Syndrome	Short philtrum, Hypoplasia of penis, Hypoplastic labia minora, High palate, Clitoral hypoplasia, ...	ORPHA:2510
Van Maldergem Syndrome 1	Hypospadias, High palate, Anal atresia, Irregular dentition, Renal hypoplasia, Downturned corners...	OMIM:601390
Opitz Gbbb Syndrome	Bifid scrotum, Tracheoesophageal fistula, Recurrent aspiration pneumonia, Dysphagia, Umbilical he...	ORPHA:2745
3C Syndrome	Orofacial cleft, High, narrow palate, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, ...	ORPHA:7
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Everted lower lip vermilion, Microdontia, Wide mouth, Bruxism, Aggressive behavior,...	OMIM:156200
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, High palate, Everted lower lip vermilion, Decreased testicular size, Hydrone...	OMIM:612513
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Respiratory distress	ORPHA:141152
Hereditary Leiomyomatosis And Renal Cell Cancer	Esophageal neoplasm, Barrett esophagus, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ...	ORPHA:523
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, High palate, Cleft lip, Cryptorchidism, Micropenis, Hypogonadotropic hypog...	OMIM:612702
Coffin-Siris Syndrome 1	Duodenal ulcer, Clitoral hypertrophy, Ectopic kidney, Aplasia of the uterus, Microdontia, Intesti...	OMIM:135900
Zellweger Syndrome	Clitoral hypertrophy, Hypospadias, High palate, Death in infancy, Pyloric stenosis, Hydronephrosi...	ORPHA:912
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Narrow nasal ridge, Impulsivity, Wide mouth, Intrauterine growth retardation, Aggr...	ORPHA:363528
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Cleft palate, Cryptorchidism, Micropenis	OMIM:614880
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinoge...	ORPHA:100924
Phosphoribosylpyrophosphate Synthetase Superactivity	Death in childhood, Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, High palate, Uro...	OMIM:300661
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Aggressive behavior, Gastroesophageal reflux, Hyperactivity, Feeding difficulties, Mo...	OMIM:620292
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Short nose, Hypospadias, Spina bifida occulta, Abnorma...	ORPHA:1786
3-Methylglutaconic Aciduria, Type Iv	3-Methylglutaric aciduria, Cryptorchidism	OMIM:250951
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Meckel diverticulum, Vesicoureteral reflux, Total anomalous pulmon...	OMIM:115470
Axenfeld-Rieger Syndrome	Abnormal anterior chamber morphology, Anal stenosis, Hypospadias, Everted lower lip vermilion, Mi...	ORPHA:782
Omphalocele-Cleft Palate Syndrome, Lethal	Cleft palate, Bifid uvula, Bicornuate uterus, Death in infancy	OMIM:258320
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Tachypnea, Dyspnea, Mesangial hypercellularity, Crescentic glomerulonephritis	OMIM:616414
Camptodactyly Syndrome, Guadalajara Type 1	Short nose, Anteverted nares, Mandibular prognathia, Open bite, High palate, Narrow mouth, Microc...	ORPHA:1327
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion	ORPHA:46
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Pleural effusion, Cleft palate, Hydronephrosis, Unilateral cleft lip, Pulmonary hypo...	OMIM:616897
Seizures-Scoliosis-Macrocephaly Syndrome	Long philtrum, Abnormality of the kidney, Cryptorchidism, Gastroesophageal reflux	ORPHA:466926
Stt3B-Cdg	Micropenis, Respiratory distress	ORPHA:370924
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Respiratory distress	OMIM:618188
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Widely spaced teeth, Gastroesophageal reflux, Tongue thru...	OMIM:617865
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Rhiny	Thin vermilion border, Short nose, Anteverted nares	OMIM:180360
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Agitation, Widely spaced teeth, Ocular anterior segment dysgenesis, Hyperactivity, Ma...	ORPHA:369891
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Branchial anomaly, Abnormal b...	ORPHA:453499
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Everted lower lip vermi...	ORPHA:893
Developmental And Epileptic Encephalopathy 30	Death in infancy, Respiratory distress	OMIM:616341
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Hypoplasia of the ovary, Intestinal malrotation, Renal hypoplasia, Decreased t...	OMIM:619321
Acrofacial Dysostosis, Catania Type	Hypospadias, Spina bifida occulta, Carious teeth, Cleft palate, Cryptorchidism	OMIM:101805
Acrorenal-Mandibular Syndrome	Narrow palate, Polycystic kidney dysplasia, Aplasia of the bladder, Absent nipple, Bicornuate ute...	OMIM:200980
Burn-Mckeown Syndrome	Abnormal palate morphology, Short nose, Bilateral choanal atresia, Short stature, Prominent nasal...	ORPHA:1200
Frontofacionasal Dysplasia	Tessier cleft, Short nose, Encephalocele, Non-midline cleft of the upper lip, Dimple on nasal tip...	ORPHA:1791
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Micropenis, Hypospadias, Death in infancy	OMIM:618815
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr...	ORPHA:457083
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Death in infancy, Short stature, Severe short stature, Disproportionate sho...	OMIM:277300
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Pancreatic hypoplasia, Microcolon, Intestinal malrotation, Glycosuria, Pulm...	OMIM:600001
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Hydro...	OMIM:301056
16P12.1P12.3 Triplication Syndrome	Long philtrum, High, narrow palate, Thin vermilion border, Short nose, Retrognathia, Nail-biting,...	ORPHA:485405
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Dental crowding, Dysphagia, Long philtrum, Aggressive behavior, Short philtrum, Oli...	OMIM:617061
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Muscular Hypertonia, Lethal	Death in infancy, Respiratory distress	OMIM:254120
Chronic Mucocutaneous Candidiasis	Cheilitis, Hematuria, Abnormal vagina morphology, Abnormal dental enamel morphology, Recurrent ur...	ORPHA:1334
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Gastroesophageal reflux, Hypoplasia of penis, Death in infancy, Small scrotum, Ambiguous genitali...	ORPHA:168593
White-Kernohan Syndrome	Hydronephrosis, Hydroureter, Horseshoe kidney	OMIM:619426
Distal Duplication 18Q	Short nose, Hypoplasia of penis, Anteverted nares, High palate, Choanal atresia, Abnormal dental ...	ORPHA:1716
Camptobrachydactyly	Septate vagina, Urinary incontinence	OMIM:114150
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Small intestinal dysmoti...	ORPHA:298
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Uri...	ORPHA:90324
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Hypospadias, Narrow mouth, Decreased testicular size, Downturned corners of ...	OMIM:300978
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Methylmalonic aciduria, Elevated urinary aminoisobutyric acid, Short philtrum, Anteve...	OMIM:614105
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Mydriasis, Recurrent urinary tract infections, Nephrolithiasis, Hypoperista...	OMIM:619365
Chromosome 3Q13.31 Deletion Syndrome	Short philtrum, High palate, Decreased testicular size, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:615433
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Short nose, High palate, Micrognathia, Long philtrum	ORPHA:2598
Stromme Syndrome	Stillbirth, Intestinal malrotation, Hydronephrosis, Wide mouth, Cleft palate, Bilateral renal hyp...	OMIM:243605
Cornelia De Lange Syndrome 5	Thin vermilion border, Widely spaced teeth, Gastroesophageal reflux, High palate, Decreased testi...	OMIM:300882
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Glycosuria, Malabsorption, Hyperactive bowel sounds	OMIM:606824
Alazami-Yuan Syndrome	Dental crowding, High palate, Narrow mouth, Long philtrum, Cryptorchidism, Thin upper lip vermilion	OMIM:617126
Duane-Radial Ray Syndrome	Aganglionic megacolon, Anal stenosis, Spina bifida occulta, Vesicoureteral reflux, Anal atresia, ...	OMIM:607323
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis	OMIM:619194
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Death in infancy, Micrognathia, Feeding difficulties, Thin upper lip ver...	OMIM:615042
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft of the upper lip, Cleft palate, Abnormal localization of kidney, Abnormality of...	ORPHA:3429
Arthrogryposis, Distal, Type 1C	Thin vermilion border, High palate, Narrow mouth, Bifid uvula, Cleft palate, Cleft lip, Cryptorch...	OMIM:619110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Respiratory distress	ORPHA:79312
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, High palate, Neonatal death, Prenatal death	OMIM:618393
Phosphoserine Aminotransferase Deficiency	Feeding difficulties, Cyanotic episode, Death in infancy	OMIM:610992
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Stickler Syndrome Type 1	Short nose, Cataract, Hypoplasia of the maxilla, Cleft palate, Long philtrum	ORPHA:90653
Fetal Trimethadione Syndrome	Short nose, Hypospadias, High palate, Micrognathia, Intrauterine growth retardation, Depressed na...	ORPHA:1913
Cerebrofacioarticular Syndrome	Anal stenosis, Hypospadias, Narrow mouth, Irregular dentition, Renal hypoplasia, Anteriorly place...	ORPHA:314679
Neu-Laxova Syndrome 2	High palate, Depressed nasal ridge, Spina bifida, Cataract, Micrognathia, Cleft palate, Intrauter...	OMIM:616038
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Poor suck, Short stature, Growth delay, Prominent nose, Prominence of ...	OMIM:614886
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ...	ORPHA:2429
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Pulmonary hypoplasia, Multiple renal cysts, Renotubular dysgen...	ORPHA:3033
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Respiratory distress, Renal cortical cysts, Polycys...	OMIM:231680
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Micropenis, Cryptorchidism	OMIM:301900
Chromosome 15Q26-Qter Deletion Syndrome	Cryptorchidism, Micropenis, Hypospadias	OMIM:612626
Robinow Syndrome, Autosomal Recessive 2	Short nose, Triangular mouth, Cleft soft palate, Anteverted nares, Gingival overgrowth, Abnormali...	OMIM:618529
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Thin vermilion border, Cryptorchidism, Hypogonadism	ORPHA:261483
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Hypospadias, Gastroesophageal r...	OMIM:300000
Currarino Syndrome	Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Bifid scrotum, Abnormal intestine morpho...	ORPHA:1552
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed...	ORPHA:2712
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Hydronephrosis, Wide mouth, Gastrointestinal dysmotility, Cryptorchidism,...	OMIM:617798
Aredyld Syndrome	Abnormality of the ureter	ORPHA:1133
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Abnormal internal genitalia, Aplasia of the bladder, Renal ...	OMIM:612284
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Retrognathia, Diarrhea, Anteverted nares, High palate, Growth delay, Recurrent upper ...	OMIM:614069
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias	OMIM:616737
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestinal malrotation...	OMIM:265380
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Disproportionate short-limb short stature, Cleft palate, Malar flattening, ...	ORPHA:85166
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Dental crowding, Vesicoureteral reflux, High palate, Renal hypoplasia,...	OMIM:620654
17P13.3 Microduplication Syndrome	Short nose, Wide nose, Hypoplasia of penis, Narrow mouth, High palate	ORPHA:217385
Carey-Fineman-Ziter Syndrome	Thin vermilion border, Glandular hypospadias, Glossoptosis, High palate, Hydronephrosis, Cleft pa...	ORPHA:1358
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Kabuki Syndrome	Orofacial cleft, Renal hypoplasia/aplasia, Widely spaced teeth, Hypospadias, Duplicated collectin...	ORPHA:2322
Primary Pulmonary Hypoplasia	Ureteral stenosis, Hypoxemia, Micrognathia, Cleft palate, Intrauterine growth retardation, Cyanosis	ORPHA:2257
3Mc Syndrome 2	Postnatal growth retardation, Hypospadias, Horseshoe kidney, High palate, Depressed nasal tip, Cl...	OMIM:265050
Femoral-Facial Syndrome	Orofacial cleft, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Cleft palate,...	ORPHA:1988
Aarskog-Scott Syndrome	Orofacial cleft, Delayed eruption of teeth, Anteverted nares, Abnormality of the dentition, Evert...	ORPHA:915
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Gastrostomy tube feeding in infancy, Short nose, Gastroesophageal reflux, Exaggerated cupid's bow...	OMIM:619833
Intellectual Developmental Disorder, Autosomal Dominant 73	Long nose, Retrognathia, Everted lower lip vermilion, Broad philtrum, Aggressive behavior, Axilla...	OMIM:620450
Seckel Syndrome 5	Clitoral hypertrophy, Hypospadias, Oligodontia, Selective tooth agenesis, High palate, Enamel hyp...	OMIM:613823
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephrotic syndrome, Cryptorchidism, Nephropathy, Proteinuria	ORPHA:1192
Odontochondrodysplasia 1	Death in infancy, Polycystic kidney dysplasia, Nephronophthisis, Respiratory distress	OMIM:184260
Bainbridge-Ropers Syndrome	Retrognathia, Tube feeding, Dental crowding, Everted lower lip vermilion, Death in infancy, Intes...	OMIM:615485
Craniofacial-Deafness-Hand Syndrome	Short nose, Aplasia/Hypoplasia involving the nose, Narrow mouth, Depressed nasal ridge, Hypoplasi...	ORPHA:1529
Mosaic Trisomy 8	Vesicoureteral reflux, High palate, Decreased testicular size, Cleft palate, Hydronephrosis, Cryp...	ORPHA:96061
Spermatogenic Failure 30	Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	OMIM:618110
Schimke Immunoosseous Dysplasia	Astigmatism, Renal insufficiency, Microdontia, Focal segmental glomerulosclerosis, Growth delay, ...	OMIM:242900
Congenital Heart Defects And Skeletal Malformations Syndrome	Thin vermilion border, Long nose, Short nose, Hypospadias, Dental crowding, High palate, Anal atr...	OMIM:617602
Otopalatodigital Syndrome Type 2	Hypospadias, Encephalocele, Oligodontia, Glossoptosis, Narrow mouth, Myelomeningocele, Ureteral o...	ORPHA:90652
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Unilateral renal agenesis	OMIM:620024
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Laurence-Moon Syndrome	Renal insufficiency, Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis	ORPHA:2377
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C...	OMIM:615237
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Death in childhood, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Microg...	OMIM:301108
Li-Campeau Syndrome	Long philtrum, Cryptorchidism, Micropenis, Gastrointestinal dysmotility	OMIM:619189
Musculocontractural Ehlers-Danlos Syndrome	Pneumothorax, High palate, Nephrolithiasis, Narrow mouth, Functional abnormality of the bladder, ...	ORPHA:2953
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Iris coloboma, Delayed eruption of teeth, Periodonti...	ORPHA:2791
Miller-Dieker Syndrome	Short nose, Anteverted nares, Growth delay, Nephropathy, Abnormal upper lip morphology	ORPHA:531
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Abnormal preputium morphology, Cleft soft palate, Short philtrum, Glandular hypospa...	ORPHA:293725
Nabais Sa-De Vries Syndrome, Type 1	Gastrostomy tube feeding in infancy, Short nose, Vesicoureteral reflux, Prolonged neonatal jaundi...	OMIM:618828
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Hypospadias, Glossoptosis, High palate, Narrow mouth, Hydronephrosis, ...	OMIM:611209
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Decreased testicular size, Cleft palate, Cleft lip, Micropenis, Hypogonadotropic hypogonadism	OMIM:614838
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Broad nasal tip, Abnormality of the dentition, Hypoplasia of the maxilla	ORPHA:2776
16P11.2P12.2 Microdeletion Syndrome	Orofacial cleft, Long nose, Short nose, Gastroesophageal reflux, Hyperactivity, Anteverted nares,...	ORPHA:261211
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter	OMIM:610759
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Occipital encephalocele, Anencephaly, Intestinal malrotation, Wide mou...	OMIM:249000
Rauch-Steindl Syndrome	Miscarriage, Hyperechogenic kidneys, Bilateral renal hypoplasia	OMIM:619695
Maxillonasal Dysplasia, Binder Type	Short nose, Dental malocclusion, Depressed nasal bridge, Short columella	OMIM:155050
Sotos Syndrome	Ureteral duplication, Congenital posterior urethral valve, Umbilical hernia, Abnormality of the k...	ORPHA:821
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Hypospadias, Bifid uvula, Broad philtrum, Umbilical hernia, Cryptorchidism, ...	ORPHA:2872
Acrorenal Syndrome	Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency, Cleft palate	ORPHA:971
Potocki-Shaffer Syndrome	Short nose, Short philtrum, Downturned corners of mouth, Micropenis, Wide nasal bridge, Underdeve...	OMIM:601224
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short stature, Carious teeth, Thick vermilion border, Protuberant abdomen, W...	OMIM:617102
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening	OMIM:613857
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Death in childhood, Low insertion of columella, Dental crowding, Anteverted nares, Un...	OMIM:619005
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Anorectal anomaly, Intestinal malrotation, Multiple renal cysts, Umb...	ORPHA:567
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Renal insufficiency, Polycystic kidney dysplasia, Bile ...	OMIM:208540
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Gabriele-De Vries Syndrome	Thick lower lip vermilion, High palate, Abnormality of the dentition, Ureteropelvic junction obst...	OMIM:617557
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Short philtrum, Anteverted nares, Downturned corners of mouth, Lobulated tongue, Feed...	OMIM:613443
Meckel Syndrome 14	Abdominal distention, Occipital encephalocele, Retrognathia, Anteverted nares, Polycystic kidney ...	OMIM:619879
Marshall Syndrome	Short nose, Thick lower lip vermilion, Anteverted nares, High palate, Abnormality of the dentitio...	ORPHA:560
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Thin vermilion border, Short philtrum, Premature loss of teeth, Short stature, Hypoplasia of the ...	OMIM:156510
Townes-Brocks Syndrome 1	Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Gastroesophageal reflux, V...	OMIM:107480
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Distal Monosomy 7Q36	Hypoplasia of penis, Non-midline cleft of the upper lip, Cleft palate, Wide mouth, Cryptorchidism	ORPHA:1636
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Hypospadias, Head-banging, Recurrent urinary tract infections, Mandibu...	OMIM:619103
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Pelvis-Shoulder Dysplasia	Hydranencephaly, Thick anterior alveolar ridges, Spina bifida, Hydronephrosis, Cleft palate, Micr...	ORPHA:2839
Schilbach-Rott Syndrome	Long nose, Hypospadias, Narrow mouth, Short stature, Attention deficit hyperactivity disorder, Mi...	OMIM:164220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Agitation, Excessive wrink...	OMIM:619950
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Anal atresia, Uterus didelphys, Cleft palate, Natal tooth, Neonatal death, Pulmonary hypoplasia, ...	OMIM:617925
Donohue Syndrome	Postnatal growth retardation, Abdominal distention, Thick lower lip vermilion, Long penis, Gingiv...	OMIM:246200
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Anal atresia, Renal agenesis, Cleft upper lip, Cleft palate, Pu...	OMIM:273395
Skraban-Deardorff Syndrome	Hyperplasia of the maxilla, Absent cupid's bow, Widely spaced teeth, Anteverted nares, Constipati...	OMIM:617616
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Bilateral lung agenesis, Renal agenesis, Pulmonary artery stenosis, Conge...	OMIM:611812
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Long philtrum, Short nose, Hypospadias, Triangular mouth, Wide nose...	OMIM:257300
Spinal Muscular Atrophy, X-Linked 2	Cryptorchidism, Micropenis, Hypospadias	OMIM:301830
Visceral Myopathy 1	Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Int...	OMIM:155310
Radio-Renal Syndrome	Renal hypoplasia/aplasia, Respiratory distress, Dyspnea, Renal agenesis, Renal dysplasia, Multicy...	ORPHA:3015
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Recurrent lower respiratory tract infections, Gastroesophageal reflux, Renal artery stenosis, Hig...	OMIM:617913
Trisomy 8Q	Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, High palate, Everted lo...	ORPHA:1752
Okamoto Syndrome	Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Open bite, Exaggerated median tongu...	ORPHA:2729
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Wide mouth, Recurrent aspiration pneumonia, Dysphagia, Rectovestibular fistula, Unilateral renal ...	ORPHA:280633
Prader-Willi Syndrome Due To Translocation	Retrognathia, Head-banging, Stellate iris, Everted lower lip vermilion, Bifid uvula, Wide mouth, ...	ORPHA:177907
Fraser Syndrome	Renal hypoplasia/aplasia, Anorectal anomaly, Hypoplasia of penis, Abnormal vagina morphology, Den...	ORPHA:2052
8P Inverted Duplication/Deletion Syndrome	Abnormality of dental eruption, High, narrow palate, Abnormality of the urinary system, Everted l...	ORPHA:96092
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short nose, Retrognathia, High palate, Short stature, Nephrocalcinosis, Feeding difficulties, Int...	OMIM:618005
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney	OMIM:614846
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Glucose-Galactose Malabsorption	Abdominal distention, Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Osmotic diarrhea, Malnutrit...	ORPHA:35710
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Anteverted nares, Micrognathia, Feeding difficulties, Broad philtrum, Long philtrum, ...	OMIM:618577
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Retinal telangiectasia, Low hanging columella, Mandibular prognathia, Hypoplasia of...	OMIM:620157
Liver Failure, Infantile, Transient	Abdominal distention, Dicarboxylic aciduria, Jaundice, Death in infancy, Vomiting, Acute hepatic ...	OMIM:613070
Stuve-Wiedemann Syndrome 2	Stillbirth, Neonatal death, Death in adolescence, Respiratory distress	OMIM:619751
Birk-Aharoni Syndrome	Cryptorchidism, Micropenis, Duplicated collecting system	OMIM:620071
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Lacrimal gland aplasia, Abnormal salivary gland morphology, Abnormal dental enam...	ORPHA:2363
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Anterior pituitary agenesis, Pancreatic hypoplasia, Pancreatic aplasia, Int...	ORPHA:2255
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
48,Xxyy Syndrome	Thick lower lip vermilion, Gastroesophageal reflux, Azoospermia, Hypoplasia of penis, Delayed eru...	ORPHA:10
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Short nose, Retrognathia, Jaundice, Excessive wrinkled skin, Wide nose,...	OMIM:608779
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Orofacial cleft, Short nose, Retrognathia, Anteverted nares, Short ...	OMIM:243310
Omodysplasia 2	Hypospadias, Gastroesophageal reflux, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, C...	OMIM:164745
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Fetal pyelectasis, Absent uvula	OMIM:616531
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Cryptorchidism, Horseshoe kidney, Hypospadias	OMIM:218350
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Widely-spaced maxillary central incisors, Thick lower lip vermilion, Hypospadias, Gastroesophagea...	OMIM:301040
Microform Holoprosencephaly	Orofacial cleft, Short nose, Iris coloboma, Solitary median maxillary central incisor, Short phil...	ORPHA:280200
Koolen-De Vries Syndrome	Narrow palate, Widely spaced teeth, Recurrent urinary tract infections, Vesicoureteral reflux, Hi...	OMIM:610443
Congenital Muscular Dystrophy With Intellectual Disability	Cryptorchidism, Micropenis, Abnormality of the tongue muscle	ORPHA:370968
Toriello-Lacassie-Droste Syndrome	Epispadias, Aganglionic megacolon, Hypospadias, Abnormality of the bladder, Abnormality of the ur...	ORPHA:3339
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Periodontitis, Gingival overgrowth, Abnormali...	ORPHA:722
Triploidy	Hypospadias, Meningocele, Hypoplasia of penis, Non-midline cleft of the upper lip, Narrow mouth, ...	ORPHA:3376
Hereditary Fructose Intolerance	Abdominal distention, Jaundice, Diarrhea, Abdominal pain, Chronic hepatic failure, Growth delay, ...	ORPHA:469
Diabetes Insipidus, Neurohypophyseal	Long philtrum, Short nose, Wide nose	OMIM:125700
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Meckel diverticulum, Poor suck, Thick nasal alae, Micrognathia, Dysphag...	ORPHA:163961
Townes-Brocks Syndrome	Abnormality of the kidney, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagin...	ORPHA:857
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, High palate, Hypoplasia of the maxilla, Prominent nasal bridge, Chronic co...	OMIM:300676
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Gastroesophageal reflux, Mandibular prognathia, Everted lower lip vermilion, Growth d...	ORPHA:261144
Genitopalatocardiac Syndrome	Hypospadias, Non-midline cleft of the upper lip, Male pseudohermaphroditism, Downturned corners o...	ORPHA:2075
Trisomy 18	Narrow palate, Anencephaly, Esophageal atresia, Non-midline cleft of the upper lip, Narrow mouth,...	ORPHA:3380
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Amish Lethal Microcephaly	Cleft soft palate, Organic aciduria, Death in infancy, Spina bifida, Micrognathia, Feeding diffic...	ORPHA:99742
Pagod Syndrome	Renal hypoplasia/aplasia, Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida, F...	ORPHA:991
Inflammatory Pseudotumor Of The Liver	Vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:90003
Fibrochondrogenesis 2	Short nose, Anteverted nares, Micrognathia, Malar flattening, Protuberant abdomen	OMIM:614524
Au-Kline Syndrome	Gastroesophageal reflux, Oligodontia, Vesicoureteral reflux, Lipomyelomeningocele, High palate, C...	OMIM:616580
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Long philtrum, Abnormal temper tantrums, Gastroesophageal reflux, G...	ORPHA:251061
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Stereotypical hand wringing, Tented uppe...	OMIM:619854
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Hypospadias, Gastroesophageal reflux, Dental crowding, Pulmonary artery stenosis, Cryptorchidism,...	ORPHA:435938
Igg4-Related Kidney Disease	Enlarged kidney, Urinary bladder inflammation, Acute kidney injury, Abnormal lung morphology, Abn...	ORPHA:449395
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, High, narrow palate, Death in childhood, Hypospadias, High palate, Protrudi...	OMIM:214100
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit...	ORPHA:37553
Baller-Gerold Syndrome	Short nose, Narrow nasal bridge, Vesicoureteral reflux, High palate, Narrow mouth, Anal atresia, ...	ORPHA:1225
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Microdontia, Long philtrum, Aggressive behavior, Short philtrum, Abnormality of ...	ORPHA:251028
Mmep Syndrome	Orofacial cleft, Cryptorchidism, Median cleft upper lip	ORPHA:3434
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Schneckenbecken Dysplasia	Short nose, Stillbirth, Disproportionate short-limb short stature, Cleft palate, Malar flattening...	OMIM:269250
Ulbright-Hodes Syndrome	Pneumothorax, Thin vermilion border, Clitoral hypertrophy, Enlarged labia minora, Polycystic kidn...	ORPHA:3404
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Death in infancy, Wide mouth, Umbilical hernia, Long philtrum, Short philtru...	ORPHA:1507
Periventricular Nodular Heterotopia 7	Short nose, Dental crowding, Anteverted nares, Narrow mouth, Micrognathia, Pierre-Robin sequence,...	OMIM:617201
Autosomal Dominant Omodysplasia	Hypoplasia of penis, Bifid scrotum, Long philtrum, Ambiguous genitalia, Cryptorchidism	ORPHA:93328
Cap Polyposis	Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,...	ORPHA:160148
Tetrasomy 12P	Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Everted...	ORPHA:884
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Intellectual Developmental Disorder, X-Linked 21	Short nose, Hyperactivity, Dental crowding, Mandibular prognathia, Impulsivity, Tented upper lip ...	OMIM:300143
Trisomy 12P	Short nose, Everted lower lip vermilion, Anal atresia, Short stature, Downturned corners of mouth...	ORPHA:1699
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormal vagina morphology, Dysuria, Intestinal perforation, Tracheo...	ORPHA:537
Mesomelia-Synostoses Syndrome	High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Abnormal oral frenulum morpho...	ORPHA:2496
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Micropenis	OMIM:269150
Lathosterolosis	Long philtrum, Short nose, Hypoplasia of penis, Meningocele, Anteverted nares, Gingival overgrowt...	ORPHA:46059
15Q24 Microdeletion Syndrome	Abnormal palate morphology, Decreased response to growth hormone stimulation test, Thick lower li...	ORPHA:94065
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypoplastic philtrum, Wide mouth, Hypogonadism, Small scrotum, Hypospadias, Micropenis, Thin uppe...	OMIM:309580
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic kidney dis...	ORPHA:261222
Birk-Barel Syndrome	Short philtrum, High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Submucous cleft so...	OMIM:612292
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Short stature, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Feeding difficu...	ORPHA:79113
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Hydronephrosis	OMIM:620327
Meier-Gorlin Syndrome 5	Long philtrum, Gastroesophageal reflux, Short stature, Hypoplasia of the maxilla, Micrognathia, T...	OMIM:613805
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted ...	ORPHA:364577
Pfeiffer Syndrome Type 3	Respiratory distress, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux	ORPHA:93260
Kinsship Syndrome	Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Gastroesophageal reflux, Gingival...	OMIM:619297
20P12.3 Microdeletion Syndrome	Narrow mouth, Short stature, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Wide nas...	ORPHA:261295
Poland Syndrome	Renal hypoplasia/aplasia, Hypospadias, Spina bifida occulta, Encephalocele, Duplicated collecting...	ORPHA:2911
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Renal dysplasia, Abnormality...	ORPHA:369837
Vitamin K Antagonist Embryofetopathy	Short nose, Anteverted nares, Choanal atresia, Myelomeningocele, Cataract, Intrauterine growth re...	ORPHA:1914
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Micropenis	OMIM:619180
Sialuria	Increased level of N-acetylneuraminic acid in urine, High palate, Protuberant abdomen, Attention ...	OMIM:269921
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Short nose, Attention deficit hyperactivity disorder	OMIM:245570
Kury-Isidor Syndrome	Widely spaced teeth, Triangular mouth, High palate, Hydronephrosis, Tented upper lip vermilion, L...	OMIM:619762
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Short philtrum, Mandibular prognathia, Microcornea, Everted lower lip...	OMIM:601499
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Growth delay, Cleft palate, Broad nasal tip, Tented upper lip vermilion, Bruxism, Wid...	OMIM:615716
Wolman Disease	Abdominal distention, Steatorrhea, Nausea and vomiting, Esophageal varix, Growth delay, Malnutrit...	ORPHA:75233
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Short philtrum, Death in inf...	ORPHA:1194
46,Xy Ovotesticular Difference Of Sex Development	Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita...	ORPHA:325345
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Micropenis	OMIM:202150
Holoprosencephaly 2	Solitary median maxillary central incisor, Proboscis, Bilateral cleft palate, Aplasia of the prem...	OMIM:157170
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Short nose, Short philtrum, Wide nose, Severe postnatal growth retardation, Ante...	ORPHA:391408
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Tooth agenesis, Cleft upper lip, Cleft palate, Cryptorchidism, Micropenis, Hypogonadotropic hypog...	OMIM:147950
Renpenning Syndrome 1	Death in childhood, Hypospadias, Short philtrum, Phimosis, High palate, Narrow mouth, Anal atresi...	OMIM:309500
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Delayed puberty, Short nose, 3-Methylglutaconic aciduria, Mandibular prognathia, Corneal opacity,...	ORPHA:496790
Congenital Fibrinogen Deficiency	Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Developmental cataract, Bruising susceptib...	ORPHA:335
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exertional dyspnea, Death in childhood, Respiratory distress, Glycosuria, Hyperphosphaturia, Prot...	OMIM:220110
Tarp Syndrome	Glossoptosis, Tongue nodules, Hydronephrosis, Cleft palate, Abnormal duodenum morphology, Pierre-...	ORPHA:2886
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Keratoconus Posticus Circumscriptus	Recurrent urinary tract infections, Vesicoureteral reflux, Cleft palate, Cleft upper lip	OMIM:244600
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Short stature, Hypoplasia of the maxilla, Prominent nasal bridge, Aggressive behavior	ORPHA:85279
Cebalid Syndrome	Short nose, Anteverted nares, High palate, Polyphagia, Depressed nasal ridge, Feeding difficultie...	OMIM:618774
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Astigmatism, Renal dysplasia, Cataract, Short stature, Downturned corners of mouth, C...	OMIM:618571
Thakker-Donnai Syndrome	Rectovaginal fistula, Narrow mouth, Anal atresia, Tracheoesophageal fistula, Downturned corners o...	ORPHA:1780
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia	ORPHA:1918
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short nose, Anteverted nares, High palate, Cataract, Downturned corners of mouth, Cleft palate, M...	ORPHA:163649
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Long philtrum, Short nose, Hypospadias, Short philtrum, Abnormal de...	ORPHA:439822
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, High palate, Ankyloglossia, Hydronephrosis, Long philtrum, Cryptorchidism	ORPHA:250989
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Death in infancy, Feeding difficulties, Umbilical ...	OMIM:620275
Waardenburg Syndrome	Intestinal obstruction, Orofacial cleft, Aganglionic megacolon, Abnormality of the gastrointestin...	ORPHA:3440
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Pelvic kidney, Vesicoureteral reflux, High palate, Hydronephrosis, Smooth p...	OMIM:618653
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Hypoplasia of penis, Death in infancy, Ambiguous genitalia, Cryptorchidism	ORPHA:452
Fetal Valproate Spectrum Disorder	Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou...	ORPHA:1906
Cryofibrinogenemia, Familial Primary	Transient nephrotic syndrome, Hematuria, Acrocyanosis	OMIM:123540
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis	ORPHA:464311
Alg9-Cdg	Abnormal lung lobation, Long philtrum, Enlarged kidney, Gastroesophageal reflux, Hypoplasia of th...	ORPHA:79328
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Cryptorchidism, Peripheral pulmonary artery stenosis, Hydronephrosis	OMIM:613001
Achondrogenesis, Type Ii	Long philtrum, Stillbirth, Disproportionate short-limb short stature, Cleft palate, Microretrogna...	OMIM:200610
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Renal hypoplasia, Downturned corners of mouth, Small scrotum, Cryp...	ORPHA:264200
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:254210
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Retrognathia, Short philtrum, Gastroesophageal reflux, Hypodontia, Nar...	OMIM:620250
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, High palate, Everted lower lip vermilion, Narrow mouth, Decreased t...	ORPHA:261349
Harel-Yoon Syndrome	Short nose, Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Feeding...	OMIM:617183
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Abnormality of the female genitalia, Hematuria, Recurrent respiratory infect...	ORPHA:1018
Fetal Alcohol Syndrome	Short nose, Non-midline cleft of the upper lip, Anteverted nares, Microdontia, Short stature, Mic...	ORPHA:1915
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Impulsivity, Sho...	ORPHA:293939
X-Linked Intellectual Disability, Cilliers Type	Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Increased...	ORPHA:163971
Distal Deletion 10Q	Aggressive behavior, Acute kidney injury, Astigmatism, Short stature, Cleft palate, Feeding diffi...	ORPHA:96148
Acromicric Dysplasia	Short nose, Thick lower lip vermilion, Anteverted nares, Narrow mouth, Severe short stature, Long...	ORPHA:969
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia of the uterus, Cleft palate, Axial malrotation of the kidney, ...	ORPHA:3320
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Hyperactivity, Compulsive behaviors, Constipation, Downturned corners of mouth, Tente...	OMIM:618430
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Hyperactivity, Lactose intolerance, Wide mouth, Open mouth, Intestinal polyp, Long p...	ORPHA:457485
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:610628
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Fetal megacystis, Long philtrum, Cryptorchidism, Multicystic kidne...	ORPHA:73246
Primary Peritoneal Carcinoma	Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting	ORPHA:168829
Microphthalmia, Syndromic 1	Orofacial cleft, Rectal prolapse, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Aganglionic...	OMIM:309800
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Hypospadias, Renal cyst, Bifid uvula, Cleft palate, Micropenis	OMIM:614175
Al Amyloidosis	Abdominal distention, Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormalit...	ORPHA:85443
Reni Syndrome	Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Diffuse...	OMIM:617575
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Weaver Syndrome	Long philtrum, Cryptorchidism, Deep philtrum, Hypoplasia of penis	ORPHA:3447
Fanconi Anemia	Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Tracheoesophageal fistu...	ORPHA:84
Fibrochondrogenesis 1	Short nose, Stillbirth, Rhizomelia, Anteverted nares, Narrow mouth, Megalocornea, Cleft palate, M...	OMIM:228520
Dubowitz Syndrome	Hyperactivity, Chronic diarrhea, Intrauterine growth retardation, Hypospadias, Episodic vomiting,...	OMIM:223370
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Head-banging, Anteverted nares, Narrow mouth, Microdontia, Micrognathia, Open mouth, ...	OMIM:619356
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico...	OMIM:301111
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Downturned corners of mouth, Wide mouth, Umbilical hernia, Cryptorchidism	OMIM:273390
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Gastroesophageal reflux, Partial development of the penile shaft, Dysp...	OMIM:608800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Depressed nasal ridge, Death in infancy, Short stature, M...	ORPHA:163966
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, Dysphagia, Intrauterine growth retardation, Dilatation of the renal pelvis, Aggress...	ORPHA:268261
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Vesicoureteral reflux, Exaggerated cupid's bow, Narrow mouth, Wide mouth, Smooth phi...	OMIM:618659
Buratti-Harel Syndrome	Hypospadias, Gastroesophageal reflux, High palate, Velopharyngeal insufficiency, Bifid uvula, Rec...	OMIM:619314
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Gingival overgrowth, Stereotypical hand wringing, Protruding tongue, Short stature, H...	OMIM:619179
Mercury Poisoning	Acute kidney injury, Dyspnea, Respiratory distress	ORPHA:330021
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis	ORPHA:2772
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, Pyelonephr...	OMIM:314300
Pitt-Hopkins Syndrome	Wide mouth, Aggressive behavior, Aganglionic megacolon, Astigmatism, Short philtrum, Tooth malpos...	ORPHA:2896
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom...	OMIM:617100
Holocarboxylase Synthetase Deficiency	Tachypnea, Organic aciduria, Respiratory distress	ORPHA:79242
Robinow Syndrome	Broad alveolar ridges, Dental crowding, Umbilical hernia, Long philtrum, Small scrotum, External ...	ORPHA:97360
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Absent cupid's bow, Astigmatism, Choanal atresia, Constipation, Attention deficit hyp...	ORPHA:284169
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Orofaciodigital Syndrome V	Aganglionic megacolon, High palate, Ankyloglossia, Unilateral cryptorchidism, Bifid tongue, Cleft...	OMIM:174300
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Abnormal renal morphology, Mandibular prognath...	OMIM:239300
Thyroid Hypoplasia	Abdominal distention, Jaundice, Growth delay, Short stature, Constipation, Macroglossia	ORPHA:95720
5Q14.3 Microdeletion Syndrome	Short nose, Short philtrum, Anteverted nares, Feeding difficulties, Open mouth, Motor stereotypy	ORPHA:228384
Teebi-Shaltout Syndrome	High, narrow palate, Oligodontia, Narrow mouth, Ureteral stenosis, Prominent palatine ridges, Hyd...	OMIM:272950
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:605809
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Hematuria, Diarrhea, Oral ulcer, Abdominal pain, Abnormality of the urinary...	ORPHA:93552
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Hypospadias	OMIM:616910
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Miscarriage, Vesicoureteral reflux, Bicornuate u...	ORPHA:2438
Coffin-Lowry Syndrome	Everted lower lip vermilion, Wide mouth, Narrow palate, Advanced eruption of teeth, Craniofacial ...	ORPHA:192
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Long philtrum, Dental malocclusion, Cryptorch...	ORPHA:444072
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Antever...	ORPHA:2701
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Non-midline cleft of the upper ...	ORPHA:2549
Intellectual Disability, Buenos-Aires Type	Open bite, High palate, Abnormal dental morphology, Hydronephrosis, Umbilical hernia, Dental malo...	ORPHA:3079
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Hydroureter, Dyspnea, Abnormality of the upper urinary tract, Hydronep...	ORPHA:2636
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate...	ORPHA:2728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cryptorchidism, Micropenis, Open mouth, Macroglossia	OMIM:613156
Stt3A-Cdg	Small scrotum, Cryptorchidism, Micropenis	ORPHA:370921
Chromosome 3Pter-P25 Deletion Syndrome	Thin vermilion border, Gastroesophageal reflux, Abnormal renal morphology, High palate, Anal atre...	OMIM:613792
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis	OMIM:101800
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Polycystic kidney dysplasia, Bicornuate uterus, Pulmonary hypoplasia, Smo...	OMIM:263210
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Hypospadias, Short philtrum, Gastroesophageal reflux, Exaggerated cupid's bow, Pulmonary artery a...	OMIM:618316
Degcags Syndrome	Wide mouth, Long philtrum, Hypospadias, Oral-pharyngeal dysphagia, Abnormal renal cortex morpholo...	OMIM:619488
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Tented upper lip vermilion, Open mouth, Cryptor...	ORPHA:228402
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Odontochondrodysplasia	Short nose, Retrognathia, Delayed eruption of teeth, Death in infancy, Short stature, Dentinogene...	ORPHA:166272
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Urinary incontinence, Dental crowding, Eruption failure, Poor suck, High palate, Abno...	ORPHA:476126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Diarrhea, Anteverted nares, Protruding tongue, Short stature, Sinusitis, Micrognathia...	OMIM:242860
Sepsis In Premature Infants	Decreased liver function, Abdominal distention, Purpura, Jaundice, Cyanosis, Diarrhea, Functional...	ORPHA:90051
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Hypospadias, Broad alveolar ridges, High palate, Renal dysplasia, Cryptorchidism	OMIM:300004
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate, Rhizomelia, Short stature, Micrognathia, Broad nasal tip	ORPHA:166016
3Q29 Microdeletion Syndrome	Orofacial cleft, Short nose, Hypospadias, Short philtrum, Gastroesophageal reflux, Dental crowdin...	ORPHA:65286
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Thick lower lip vermilion, Hypospadias, Decreased testicular size, Wide mouth, Hypogonadism, Cryp...	OMIM:300354
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Growth delay, Constipation, Umbilical hernia, Macroglossia	ORPHA:95719
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Short nose, Hyperactivity, Anteverted nares, High palate, Short stature, M...	OMIM:601853
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Short nose, Short stature, Microretrognathia, Long philtrum	ORPHA:1389
Trigonocephaly 1	Short nose, High, narrow palate, Long penis, Meckel diverticulum, Long philtrum, Wide nasal bridge	OMIM:190440
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis	ORPHA:464306
Culler-Jones Syndrome	Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, Hypogonadism, Hypopituitarism, Cryp...	OMIM:615849
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis	ORPHA:2155
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Decreased response to growth hormone stimulation test, Hypo...	ORPHA:96179
Desmosterolosis	Abnormality of the nose, Short nose, Retrognathia, Renal hypoplasia/aplasia, Narrow mouth, Intest...	ORPHA:35107
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention, Severe short stature	OMIM:619345
Harrod Syndrome	Hypospadias, Narrow mouth, High palate, Dental malocclusion, Cryptorchidism, Multicystic kidney d...	ORPHA:2115
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Hypospadias, Bilateral cryptorchidism	OMIM:618840
Edinburgh Malformation Syndrome	Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Downturned co...	ORPHA:1895
Tarp Syndrome	Meckel diverticulum, Glossoptosis, High palate, Hydronephrosis, Cleft palate, Neonatal death, Ton...	OMIM:311900
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El...	OMIM:300068
Hardikar Syndrome	Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Bladder e...	OMIM:301068
Microvillus Inclusion Disease	Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Nephrocalcinosis, Ab...	ORPHA:2290
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Hypospadias	OMIM:620135
Bartsocas-Papas Syndrome	Short nose, Popliteal pterygium, Renal hypoplasia/aplasia, Narrow mouth, Corneal opacity, Microgn...	ORPHA:1234
Rapp-Hodgkin Syndrome	Hypospadias, Conical tooth, Hypoplasia of the maxilla, Underdeveloped nasal alae, Narrow mouth, M...	OMIM:129400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis	ORPHA:221139
Acrocallosal Syndrome	Cryptorchidism, Hypospadias	ORPHA:36
Congenital Tracheal Stenosis	Abnormal lung lobation, Abnormality of the kidney, Anomalous origin of left pulmonary artery from...	ORPHA:141127
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Hypodontia, Cryptorchidism, Microdontia	ORPHA:1174
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Hypospadias, Short philtrum, Gastroesophageal reflux, Labial hypoplasia, Rec...	OMIM:619293
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Hypoplasia of the maxilla, Micrognathia, Proteinuria, Bilateral renal atrophy, S...	OMIM:166300
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max...	ORPHA:776
Neurooculorenal Syndrome	Unilateral renal agenesis, Bilateral renal agenesis, Stage 2 chronic kidney disease, Hyperechogen...	OMIM:620305
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, Cryptorchidis...	OMIM:614732
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft har...	ORPHA:2521
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypoplasia of penis, Tooth agenesis, Wide mouth, ...	ORPHA:818
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Short nose, Gastroesophageal reflux, Anteverted nares, Short stature, Inte...	OMIM:614701
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Abdominal distention, Urinary incontinence, Increased...	ORPHA:79276
Cutis Laxa, Autosomal Recessive, Type Iia	Long philtrum, Short nose, Excessive wrinkled skin, Anteverted nares, High palate, Narrow mouth, ...	OMIM:219200
Zaki Syndrome	Short philtrum, High palate, Renal agenesis, Hydronephrosis, Wide mouth, Median pseudocleft lip	OMIM:619648
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Poor suck, High palate,...	OMIM:619383
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Temtamy Preaxial Brachydactyly Syndrome	Short nose, Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Abnormality of t...	ORPHA:363417
Developmental And Epileptic Encephalopathy 75	Decreased liver function, Short nose, Short philtrum, Anteverted nares, Feeding difficulties in i...	OMIM:618437
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Respiratory distress, Microscopic hematuria, Abnormal renal physiology...	OMIM:274150
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Widely spaced teeth, Hypoplastic nipples, Absent nipple, Smooth philtrum, Male urethral meatus st...	OMIM:616001
3Mc Syndrome 3	Tessier cleft, Penoscrotal hypospadias, Bifid scrotum, Cleft upper lip, Cleft palate, Cryptorchid...	OMIM:248340
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abdominal distention, Jaundice, Anteverted nares, Fulminant hepatic failure, Depressed nasal bridge	OMIM:618528
Williams Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Tracheoesophageal fistula, Microdontia, Nephroc...	ORPHA:904
Weill-Marchesani Syndrome 2	Narrow palate, Iridodonesis, Astigmatism, Tooth malposition, Microspherophakia, Lens luxation, Hi...	OMIM:608328
Waardenburg Syndrome Type 1	Premature graying of hair, Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia,...	ORPHA:894
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Anteverted nares, High palate, Zonular cataract, Cataract, Short stature, Micrognathi...	OMIM:222765
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Aganglionic megacolon, Dental crowding, High pala...	OMIM:209900
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Decreased adipose tissue around neck, Death in early adulthood, Dental crowding, Prem...	OMIM:608612
Avian Influenza	Acute kidney injury, Respiratory distress, Miscarriage, Dyspnea, Tachypnea	ORPHA:454836
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Jaundice, Severe postnatal growth retardation, Anteverted nares, Short stature, Prolo...	OMIM:613038
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Postnatal growth retardation, Long philtrum, Short nose, Abnormal subcutaneous fat tissue distrib...	ORPHA:357074
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Urinary urgency, Hypoplasia of the maxilla, Urinary bladder sphincter dysfu...	OMIM:300266
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Vesicoureteral reflux, Short stature, Hypoplasia of the maxilla, Cleft palate	OMIM:614261
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Widely-spaced incisors, Hypoplasia of the maxilla, Smooth philtrum, Bulbous nose, Thin upper lip ...	OMIM:618737
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Mandibular prognathia, Hypoplasia of the maxilla, Hyperopic astigmatism, Crowded m...	ORPHA:397973
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Myopic astigmatism, Volvulus, Natal tooth, Micrognathia, Dysphagia, Motor stereotypy,...	OMIM:617802
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Death in infancy, Bifid ...	ORPHA:1790
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Narrow mouth, Short stature, Micrognathia, Cleft palate, Wide nasal bridge	OMIM:614078
Cousin Syndrome	Ambiguous genitalia, male, Hydranencephaly, Ambiguous genitalia, female, Hydronephrosis, Cleft pa...	OMIM:260660
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose	ORPHA:93945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Vaginal dryness, Hypospadias, Supernumerary nipple, Conical tooth, Selective...	OMIM:106260
Warburg Micro Syndrome 3	Postnatal growth retardation, Short nose, Narrow palate, Microcornea, Downturned corners of mouth...	OMIM:614222
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Death in childhood, Respiratory distress, Focal segmental glomerulosclerosis, Ne...	OMIM:617303
Orofaciodigital Syndrome Xiv	Epispadias, Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Bifid tongue...	OMIM:615948
Achondrogenesis	Short nose, Anteverted nares, Micrognathia, Severe short stature, Umbilical hernia, Long philtrum	ORPHA:932
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Abdominal distention, Recurrent aphth...	OMIM:212750
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Multiple bladder diverticula, Death in childhood, Emphysema, Atelectasis, Gastro...	OMIM:613177
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Pyloric stenosis, Bif...	OMIM:101200
Microphthalmia, Syndromic 8	Orofacial cleft, Cleft upper lip, Cleft palate, Cryptorchidism, Widely-spaced maxillary central i...	OMIM:601349
Achondrogenesis Type 1B	Long philtrum, Short nose, Anteverted nares, Micrognathia, Severe short stature, Umbilical hernia...	ORPHA:93298
Immunodeficiency 95	Respiratory distress	OMIM:619773
Schinzel-Giedion Syndrome	Broad alveolar ridges, Wide mouth, Dysphagia, Umbilical hernia, Aganglionic megacolon, Neural tub...	ORPHA:798
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Long nose, Delayed eruption of teeth, Den...	OMIM:257850
Distal Deletion 12Q	Supernumerary tooth, Annular pancreas, High, narrow palate, Ectopic kidney, Esophageal atresia, P...	ORPHA:96149
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee...	ORPHA:352665
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
49,Xxxxy Syndrome	Renal hypoplasia/aplasia, Gastroesophageal reflux, Azoospermia, Hypoplasia of penis, Delayed erup...	ORPHA:96264
Myhre Syndrome	Epispadias, Thin vermilion border, Gingival cleft, Hypospadias, Abnormal penis morphology, Cranio...	ORPHA:2588
Hydrolethalus Syndrome 1	Abnormal lung lobation, Stillbirth, Adrenal gland dysgenesis, Hypospadias, Anencephaly, Abnormal ...	OMIM:236680
Igg4-Related Aortitis	Hydronephrosis	ORPHA:449400
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate, Gastroesophageal reflux, Poor suck, Micrognathia, Severe short stature, Dispro...	ORPHA:93316
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Gastroesophageal reflux, Short philtrum, Tented upper lip vermilion, Motor stereotypy	ORPHA:85277
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Methylmalonic aciduria, Homocystinuria	OMIM:250940
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Gastroesophageal reflux, Dental crowding, Exaggerated median tongue furrow, Feedin...	ORPHA:313892
Trisomy 8P	Abnormal lung lobation, Thin vermilion border, Annular pancreas, Peripheral pulmonary artery sten...	ORPHA:264450
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Cryptorchidism, High palate, Cleft palate	OMIM:618388
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Recurrent lower respiratory tract infections, Recurrent urinary tract infection...	OMIM:612541
Hsd10 Disease, Infantile Type	Dysphagia, Restlessness, Gastrointestinal dysmotility, Cyanosis, Abnormal concentration of acylca...	ORPHA:391428
Tetrasomy 5P	Postnatal growth retardation, Short nose, Anteverted nares, High palate, Micrognathia, Long philt...	ORPHA:3309
Prolidase Deficiency	Short nose, Diffuse telangiectasia, Petechiae, High palate, Hyperimidodipeptiduria, Prolonged neo...	OMIM:170100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Narrow mouth, Thin vermilion border, Cryptorchidism, Micropenis	OMIM:612447
Distal Duplication 15Q	Abnormal female external genitalia morphology, High palate, Anal atresia, Downturned corners of m...	ORPHA:1707
Fanconi-Bickel Syndrome	Abdominal distention, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Growth d...	ORPHA:2088
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Purpura, Glomerulopathy, Hematuria, Gastroesophageal reflux, Abdominal pa...	ORPHA:183
Hurler Syndrome	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Anteverted nares, Gingiv...	OMIM:607014
Silver-Russell Syndrome Due To A Point Mutation	Small placenta, Hypospadias, Bifid scrotum, Microphallus, Abnormal scrotum morphology, Cleft pala...	ORPHA:397590
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Hypospadias, Cholelithiasis, Short philtrum, Exaggerated cupid's bow, Everte...	ORPHA:464738
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Widely spaced teeth, Thick lower lip vermilion, Duplicated collecting system, Delayed eruption of...	OMIM:280000
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Cryptorchidism, Micropenis	OMIM:618841
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, High palate, Hypoplasia of the maxilla, Feeding difficulties, Wide nasal bridge	OMIM:218000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Long philtrum, Unilateral breast hypoplasia, Abnormality of the dentition, Anal atresia, Hydronep...	OMIM:300968
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Vesicoureteral reflux, Bifid uvula, Ambiguous genitalia, Cryptorchidism, Mic...	OMIM:617159
Cataract 18	Nuclear cataract	OMIM:610019
Granulomatosis With Polyangiitis	Intestinal obstruction, Glomerulopathy, Prostatitis, Hematuria, Abnormal oral cavity morphology, ...	ORPHA:900
48,Xxxy Syndrome	Gastroesophageal reflux, Azoospermia, Hypoplasia of penis, Delayed eruption of teeth, Abnormal de...	ORPHA:96263
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Intrauterine growth retardation, Thin...	OMIM:620183
Gaucher Disease, Perinatal Lethal	Short nose, Everted upper lip vermilion, Retrognathia, Purpura, Petechiae, Anteverted nares, Narr...	OMIM:608013
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypoplastic nasal tip, High palate, Micrognathia, Cyanosis, Wide nasal bridge, Thin upper lip ver...	ORPHA:3304
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Respiratory...	OMIM:251000
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia, Intestinal malr...	ORPHA:210122
Tetanus	Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Respiratory...	ORPHA:3299
Eec Syndrome	Orofacial cleft, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia,...	ORPHA:1896
Vacterl With Hydrocephalus	Renal hypoplasia/aplasia, Esophageal atresia, Abnormal fallopian tube morphology, Tracheoesophage...	ORPHA:3412
Necrotizing Enterocolitis	Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom...	ORPHA:391673
Kallmann Syndrome	Breast hypoplasia, Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism, Decreased testi...	ORPHA:478
Coffin-Siris Syndrome	Wide nasal base, Hyperactivity, Wide mouth, Broad philtrum, Intrauterine growth retardation, Aggr...	ORPHA:1465
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Glossoptosis, Microdontia, Eclabion, Umbilical hernia, Short...	OMIM:602535
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Unilateral renal agenesis, Hypospadias, Pelvic kidne...	ORPHA:468631
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Advanced eruption of teeth, Anencephaly, Hypospadias, Encephalocele, S...	OMIM:619148
Feingold Syndrome Type 1	Abnormality of the kidney, Gastrointestinal atresia, Esophageal atresia, Vesicoureteral reflux, A...	ORPHA:391641
Double Outlet Right Ventricle	Narrow mouth, Short stature, Intestinal malrotation, Cleft palate, Feeding difficulties, Submucou...	ORPHA:3426
Kleefstra Syndrome 1	Hypospadias, Gastroesophageal reflux, Abnormal renal morphology, Everted lower lip vermilion, Per...	OMIM:610253
Encephalopathy, Ethylmalonic	Petechiae, Chronic diarrhea, Death in infancy, Ethylmalonic aciduria, Feeding difficulties, Acroc...	OMIM:602473
Ovarian Fibroma	Abdominal distention, Peritonitis, Abdominal pain, Odontogenic keratocysts of the jaw	ORPHA:314473
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidney...	OMIM:263200
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Gastroesophageal reflux, Abnormal renal morphology, Downturned corners of mouth, Wide mouth, Smoo...	ORPHA:329224
Multiple Benign Circumferential Skin Creases On Limbs	Long philtrum, Hypospadias, Abnormal scrotum morphology, Cleft palate, Umbilical hernia, Small sc...	ORPHA:2505
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal renal morphology, Fused labia minora, Vaginal atresia, Long philtrum, Hypoplastic labia ...	OMIM:207410
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Everted lower lip vermilion, Long philtrum, Intrauterine growth retardation, Oli...	OMIM:608670
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias, Enuresis	ORPHA:96121
Arthrogryposis Multiplex Congenita 6	Death in childhood, Hypospadias, Neonatal death, Death in infancy	OMIM:619334
Charge Syndrome	Tracheoesophageal fistula, Dysphagia, Umbilical hernia, Decreased response to growth hormone stim...	OMIM:214800
Trisomy 10P	Abnormality of the nose, Orofacial cleft, Thin vermilion border, Short nose, Retrognathia, Abnorm...	ORPHA:171929
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microdontia, Renal hypoplasia, Thick vermilion border, Smooth philtrum, Cryptorchidism	OMIM:620005
Pentalogy Of Cantrell	Orofacial cleft, Anencephaly, Hypospadias, Encephalocele, Non-midline cleft of the upper lip, Ren...	ORPHA:1335
Keipert Syndrome	Exaggerated cupid's bow, Short stature, Hypoplasia of the maxilla, Prominent nasal bridge, Tented...	ORPHA:2662
Jacobsen Syndrome	Abnormal palate morphology, Annular pancreas, Ectopic anus, Spina bifida, Intestinal malrotation,...	ORPHA:2308
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Mydriasis, Oral-pharyngeal dysphagia, Diarrhea, Exaggerated cupid...	ORPHA:2131
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Short philtrum, High palate, Downturned corners of mouth, Bifid uvula, Hyd...	ORPHA:247262
Deeah Syndrome	Narrow palate, Long philtrum, Short nose, Death in childhood, Retrognathia, Short philtrum, Chron...	OMIM:619004
Craniofacioskeletal Syndrome	Hypospadias, Short philtrum, Hydronephrosis, Cleft palate, Absent gallbladder, Cryptorchidism, Th...	OMIM:300712
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Cardiac-Urogenital Syndrome	Enlarged kidney, Partial anomalous pulmonary venous return, Penoscrotal hypospadias, Scimitar ano...	OMIM:618280
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Oligodontia, Mandibular prognathia, Microdontia, Sh...	OMIM:601216
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Pulmonary hypoplasia, Neonatal death, Lacticaciduria	OMIM:619003
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Xanthinuria, Lens luxation, Increased urinary taurine, Decreased urinary urate, Growt...	OMIM:252160
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Delayed eruption of teeth, Hypercalciuria, Dental crowding, Renal dysplasia, N...	OMIM:300990
Presynaptic Congenital Myasthenic Syndromes	Gastroesophageal reflux, Poor suck, High palate, Nasal regurgitation, Choking episodes, Dysphagia...	ORPHA:98914
Congenital Myasthenic Syndrome	Gastroesophageal reflux, Poor suck, High palate, Nasal regurgitation, Choking episodes, Dysphagia...	ORPHA:590
Borjeson-Forssman-Lehmann Syndrome	Orofacial cleft, Hypoplasia of penis, Decreased testicular size, Hypogonadism, Small scrotum, Cry...	ORPHA:127
Dubowitz Syndrome	Abnormal female external genitalia morphology, Rectal prolapse, Hypoparathyroidism, Hypospadias, ...	ORPHA:235
Schisis Association	Anencephaly, Encephalocele, Anal atresia, Spina bifida, Renal agenesis, Tracheoesophageal fistula...	ORPHA:63862
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Hematocolpos, Enuresis, Grad...	OMIM:619522
Chromosome 16Q22 Deletion Syndrome	Cryptorchidism, High palate, Hypospadias	OMIM:614541
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Orofacial cleft, Renal hypoplasia/aplasia, Short philtrum, High palate, B...	ORPHA:958
Recombinant 8 Syndrome	Abnormality of the kidney, Hypoplastic male external genitalia, Gingival overgrowth, Abnormality ...	ORPHA:96167
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Short lingual frenulum, Bilateral cryptorchidism, Pulmonary artery hypoplasia...	ORPHA:2326
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
19P13.13 Microdeletion Syndrome	Short nose, Diarrhea, Anteverted nares, Abdominal pain, Functional abnormality of the gastrointes...	ORPHA:357001
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly	OMIM:618901
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Loeys-Dietz Syndrome 5	Retrognathia, Cleft soft palate, High palate, Short stature, Eosinophilic infiltration of the eso...	OMIM:615582
Branchial Arch Syndrome, X-Linked	High, narrow palate, Cryptorchidism, High palate	OMIM:301950
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hyperactivity, Mandibular prognathia, High palate, Furrowed tongue, Short stature, Hypoplasia of ...	OMIM:300534
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Hypospadias, Esophageal atresia, Vesicoureteral reflux, ...	OMIM:192350
Cohen Syndrome	Delayed puberty, High, narrow palate, Short philtrum, Short stature, Feeding difficulties in infa...	OMIM:216550
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:616730
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Hypospadias, Azoospermia, Ur...	ORPHA:1772
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Pelvic kidney, Spina bifida, Renal agenesis, Renal hypoplasia, Long philtrum, Horses...	ORPHA:508498
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Glossoptosis, Absent nipple, Ankyloglossia,...	OMIM:618021
Robinow Syndrome, Autosomal Dominant 1	Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Triangular mouth, Clitoral hypop...	OMIM:180700
Macs Syndrome	Long philtrum, Recurrent aphthous stomatitis, Gingival overgrowth, High palate, Hypergonadotropic...	OMIM:613075
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis	OMIM:618419
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Hydronephrosis, Hypospadias	ORPHA:487796
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Micrognathia, Smooth philtrum, Peters anomaly	OMIM:614526
Robinow Syndrome, Autosomal Recessive 1	Dental crowding, Tooth agenesis, Nephrocalcinosis, Wide mouth, Umbilical hernia, Long philtrum, N...	OMIM:268310
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri...	OMIM:277320
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Aggressive behavior, Short philtrum, Narrow nasal bridge, Hyperactivity, Dental crowdi...	OMIM:309520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Stillbirth, Unilateral renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Dilatation...	ORPHA:95699
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Campomelic Dysplasia	Ambiguous genitalia, Hydronephrosis, Cleft palate, Male pseudohermaphroditism	ORPHA:140
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Peritonitis, Abdominal pain	ORPHA:168811
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Periodontitis, Premature loss of teeth, Precocious puberty, Hydronephrosis, Dentinogenesis imperf...	OMIM:619269
Phocomelia, Schinzel Type	High, narrow palate, Meningocele, Hypoplasia of penis, Aplasia of the uterus, Tracheoesophageal f...	ORPHA:2879
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Narrow mouth, Microdontia, Ureterocele, Carious teeth, Cleft palate, Small scrotum, ...	OMIM:616734
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate, Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:612370
Miller-Dieker Lissencephaly Syndrome	Short nose, Delayed eruption of teeth, Anteverted nares, Pelvic kidney, Cataract, Thick upper lip...	OMIM:247200
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio...	ORPHA:90301
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Abdominal distention, Protein-losing enteropathy, Hematochezia	ORPHA:103910
Aarskog-Scott Syndrome	Delayed puberty, Short nose, Anteverted nares, Short stature, Cleft upper lip, Hypoplasia of the ...	OMIM:305400
Congenital Heart Block	Intrauterine growth retardation, Cyanosis, Feeding difficulties in infancy	ORPHA:60041
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal female external genitalia morphology, Renal hypoplasia/aplasia, Vaginal fistula, Persist...	ORPHA:1112
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Brachycephaly, Trichomegaly, And Developmental Delay	Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, High palate, Short stature...	OMIM:617412
15Q Overgrowth Syndrome	High, narrow palate, Abnormal renal morphology, Dental crowding, Abnormality of the incisor, High...	ORPHA:314585
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Hyperactivity, Chronic diarrhea, Everted lower lip vermilion, Microdontia, Wide ...	OMIM:615873
Ruvalcaba Syndrome	Delayed puberty, Thin vermilion border, Short nose, Hematuria, Dental crowding, Narrow mouth, Abn...	ORPHA:3121
Burkitt Lymphoma	Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of ...	ORPHA:543
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Micrognathia,...	ORPHA:2780
Postaxial Acrofacial Dysostosis	Abnormality of the kidney, Supernumerary nipple, Conical tooth, Midgut malrotation, Pyloric steno...	OMIM:263750
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Intestinal polyposis, Attention deficit hyperactivity d...	ORPHA:210548
Alagille Syndrome 1	Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi...	OMIM:118450
Adenylosuccinase Deficiency	Short nose, Elevated urinary succinylaminoimidazole carboxamide riboside level, Hyperactivity, An...	OMIM:103050
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism	OMIM:616030
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Narrow mouth, Carious teeth, Downturned corners of mouth, Prominent nasal ...	ORPHA:1110
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic aciduria, Hypospadias, Decreased testicular size, 3-Methylglutaric aciduria, C...	OMIM:610198
Orofaciodigital Syndrome Type 4	Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Severe sh...	ORPHA:2753
Non-Distal Duplication 13Q	Thin vermilion border, Short nose, High palate, Abnormality of the dentition, Everted lower lip v...	ORPHA:1702
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cleft palate, Micropenis, Cryptorchidism, Abnormality of...	OMIM:244300
Marbach-Schaaf Neurodevelopmental Syndrome	Astigmatism, Enuresis nocturna, Recurrent hand flapping, Downturned corners of mouth, Broad nasal...	OMIM:619680
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal distention, Abdominal pain, Recurrent urinary tract infections, Nausea, Recur...	ORPHA:51890
Desbuquois Dysplasia 1	Long philtrum, Short nose, Developmental glaucoma, Disproportionate short-limb short stature, Nar...	OMIM:251450
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica...	OMIM:200990
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo...	OMIM:312300
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Fanconi-Bickel Syndrome	Postnatal growth retardation, Abdominal distention, Generalized aminoaciduria, Renal tubular dysf...	OMIM:227810
Glutamine Deficiency, Congenital	Thin vermilion border, Short nose, Erythema, Anteverted nares, Neonatal death, Wide nasal bridge,...	OMIM:610015
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen, Cleft palate, Severe short stature, Disproportionate short-limb short stature	OMIM:184250
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Increased urinary glycerol, Dyspnea, Intermittent hyperventilation, Apneic ...	ORPHA:348
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Respiratory distress	OMIM:619272
Meckel Syndrome, Type 2	Anencephaly, Encephalocele, Meningocele, Renal cyst, Bile duct proliferation, Intestinal malrotat...	OMIM:603194
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hypercalciuria, Oligodontia, Mucopolysacchariduria, Renal agenesis, C...	OMIM:618440
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Supernumerary tooth, Aplasia of the epiglottis, Vaginal atresia, Hypodontia, Ac...	OMIM:617088
Succinic Acidemia	Respiratory distress	OMIM:600335
20Q11.2 Microduplication Syndrome	Tented philtrum, Short nose, Retrognathia, Abnormal nasal bridge morphology, Anteverted nares, Gi...	ORPHA:363659
Scalp-Ear-Nipple Syndrome	Renal hypoplasia, Unilateral renal agenesis, Renal insufficiency, Pyelonephritis	OMIM:181270
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Respiratory distress	OMIM:618733
Marshall Syndrome	Short nose, Thick lower lip vermilion, Absent frontal sinuses, Anteverted nares, Lens luxation, C...	OMIM:154780
Schaaf-Yang Syndrome	Gastroesophageal reflux, Abnormality of the philtrum, Open mouth, Hypogonadism, Cryptorchidism, M...	OMIM:615547
8P23.1 Microdeletion Syndrome	Thin vermilion border, Short nose, Hypospadias, High palate, Short stature, Growth delay, Microgn...	ORPHA:251071
Proboscis Lateralis	Duplication of renal pelvis, Ureteral agenesis, Unilateral renal agenesis	ORPHA:141099
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Abnormal morphology of female internal genitalia	ORPHA:2141
Cohen Syndrome	Delayed puberty, High, narrow palate, Short philtrum, Gingival overgrowth, Abnormality of the den...	ORPHA:193
Cri-Du-Chat Syndrome	Abnormality of the kidney, Orofacial cleft, Thick lower lip vermilion, Hypospadias, Short philtru...	OMIM:123450
Cenani-Lenz Syndrome	Short nose, High, narrow palate, Renal hypoplasia/aplasia, Short philtrum, Abnormal dental enamel...	ORPHA:3258
Diamond-Blackfan Anemia 10	Renal duplication, Ectopic kidney, Respiratory distress	OMIM:613309
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Miscarriage, Cryptorchidism, Urinary incontinence	ORPHA:169189
Syndromic Diarrhea	Villous atrophy, Gastritis, Polycystic kidney dysplasia, Hypoplasia of the thymus, Renal hypoplas...	ORPHA:84064
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge, Cataract, Feeding difficulties, Restlessness, Hypodontia, Gastro...	ORPHA:544503
Ziegler-Huang Syndrome	Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad...	OMIM:620501
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Short stature, Abnormal mandible morphology, Abnormality of th...	ORPHA:3201
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Short stature, Malar flattening, Hypoplasia of the zygomatic bone, Depressed nasal br...	ORPHA:2835
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, High palate, Abnormality of the dentition, Anal atresia, Prem...	OMIM:147920
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Short stature, Wide mouth, Thick vermilion borde...	OMIM:618106
Cockayne Syndrome	Urinary incontinence, Unilateral renal agenesis, Gastroesophageal reflux, Neurogenic bladder, Age...	ORPHA:191
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent corneal erosions, Gastroesophageal reflux, Glomerular sclerosis, Diarrhea, Corneal ulce...	OMIM:223900
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Mandibular prognathia, Short stature, Wide mouth, Proteinuria, Cataract, Hypoplas...	ORPHA:2715
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide ...	ORPHA:861
Cerebrocostomandibular Syndrome	Postnatal growth retardation, Anal stenosis, Ectopic kidney, Cleft soft palate, Gastroesophageal ...	OMIM:117650
Craniolenticulosutural Dysplasia	Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of teeth, High palate...	ORPHA:50814
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Anal stenosis, Hypospadias, Breast aplasia, Vesicoureteral reflux, High pal...	OMIM:617063
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Retrognathia, Hypoplasia of penis, Abnormal dental enamel morphology, Microdontia, Cl...	ORPHA:1812
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Short nose, Rhizomelia, Anteverted nares, Cataract, Protruding...	ORPHA:50945
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Respiratory distress	OMIM:212140
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Esophageal atresia, Anteverted nares, Choanal atresia, Tra...	OMIM:619859
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Death in childhood, Polycystic kidney dysplasia, Hypoplasia of the thymus, ...	OMIM:214110
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Intrauterine growth retardation, Progeroid facial appearance, Short stature, Hypoplasia of the ma...	OMIM:608154
Peho Syndrome	Short nose, Retrognathia, Tented upper lip vermilion, Open mouth, Feeding difficulties in infancy	OMIM:260565
Leopard Syndrome 1	Unilateral renal agenesis, Micropenis, Hypospadias	OMIM:151100
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress	ORPHA:77260
Martsolf Syndrome 1	Short philtrum, Tooth malposition, High palate, Cataract, Short stature, Hypoplasia of the maxill...	OMIM:212720
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Lacticaciduria	OMIM:615595
Peritoneal Cystic Mesothelioma	Constipation, Abdominal distention, Peritonitis, Abdominal pain	ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 30	Death in infancy, Respiratory distress	OMIM:616974
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Short nose, Retrognathia, Triangular mouth, Cutaneous photosensitivity, C...	OMIM:601675
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Anteverted nares, Choanal atresia, Short stature, Feeding difficu...	OMIM:610536
Oculodentodigital Dysplasia	Short nose, Narrow nasal bridge, Low hanging columella, Broad alveolar ridges, Premature loss of ...	OMIM:164200
Cardiofaciocutaneous Syndrome 1	Tongue thrusting, Anteverted nares, Abnormality of the dentition, Short stature, Submucous cleft ...	OMIM:115150
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Cleft upper lip, Cleft...	OMIM:611561
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Hypoplasia of penis, Anosmia, Hypoplasia of the zygomati...	ORPHA:1295
Schwartz-Jampel Syndrome	Supernumerary tooth, Narrow mouth, Nephrolithiasis, Everted lower lip vermilion, Abnormality of t...	ORPHA:800
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Gastroparesis, Intestinal pseudo-obstruction, Abnormal gastric mucosa morph...	ORPHA:1876
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Spina bifida occulta, Anterior open-bite malocclusion, Dental crowding, Anteverted na...	OMIM:617877
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Short stature, Micrognathia	ORPHA:1514
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis	ORPHA:990
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Xanthinuria, Decreased urinary sulfate, Lens luxation, Increased urinary taurine, Dec...	OMIM:252150
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Long philtrum, Short nose, Rhizomelia, Gastroesophageal reflux, Hyp...	ORPHA:319182
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Underdeveloped nasal alae, Short stature, Growth delay, Cleft palate...	ORPHA:250999
Atelosteogenesis, Type I	Short nose, Stillbirth, Rhizomelia, Disproportionate short-limb short stature, Encephalocele, Mic...	OMIM:108720
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Hyperactivity, Corneal opacity, Dysphagia, Umbilical hernia, Adenoiditis, ...	ORPHA:581
ERI1-related disease	Velopharyngeal insufficiency, Hydronephrosis, High palate, Vesicoureteral reflux	OMIM:608739
16P13.11 Microdeletion Syndrome	Short nose, Gastroesophageal reflux, Anteverted nares, Exaggerated cupid's bow, Compulsive behavi...	ORPHA:261236
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum, Cryptorchi...	OMIM:615502
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pneumothorax, High palate, Narrow mouth, Nephrotic syndrome, Intestinal malrotation, Hydronephros...	OMIM:601776
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Recurrent pneumonia, Open mouth, Umbilical hernia, Cryptorchidism	ORPHA:500159
Williams-Beuren Syndrome	Abnormal renal morphology, Microdontia, Nephrocalcinosis, Umbilical hernia, Long philtrum, Urethr...	OMIM:194050
Fetal Hydantoin Syndrome	Short nose, Everted lower lip vermilion, Depressed nasal ridge, Short stature, Cleft palate, Wide...	ORPHA:1912
Combined Oxidative Phosphorylation Deficiency 53	Short stature, Abdominal distention, Death in childhood, Death in infancy	OMIM:619423
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Renal hypoplasia/aplasia, Gastroesophageal reflux, Abno...	ORPHA:2092
Esophageal Atresia	Gastroesophageal reflux, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Choanal atres...	ORPHA:1199
Chromosome 18P Deletion Syndrome	Gonadal dysgenesis, Tooth malposition, High palate, Decreased testicular size, Cryptorchidism, Mi...	OMIM:146390
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Vaginal hernia, Abnormality of the upper urinary tract, Cleft ...	ORPHA:2916
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Abnormality of the dentition, Depressed nasal ridge, Hypoplasia of t...	ORPHA:178303
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, High palate, Hypospadias	ORPHA:98791
Scarf Syndrome	Hepatocellular adenoma, Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Enamel hypoplasia, Um...	ORPHA:3134
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla	ORPHA:93950
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Abnormal testis morphology, Everted lower lip vermili...	ORPHA:96147
Moebius Syndrome	Micropenis, Respiratory distress	OMIM:157900
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Growth delay, Carious teeth, Enamel hypoplasia, Protuberant abdomen, W...	OMIM:277440
Niemann-Pick Disease, Type A	Short stature, Vomiting, Constipation, Prolonged neonatal jaundice, Protuberant abdomen, Feeding ...	OMIM:257200
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Mirizzi Syndrome	Anorexia, Abdominal distention, Jaundice, Abdominal pain, Vomiting, Nausea, Dark urine, Abdominal...	ORPHA:521219
Short Stature-Micrognathia Syndrome	Penoscrotal hypospadias, Gastroesophageal reflux, High palate, Cleft palate, Small scrotum, Crypt...	OMIM:617164
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Ectopia pupillae, Abnormality of the kidney, Aganglionic me...	OMIM:235730
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased testicular size, Hypogonadism, Cryptorchidism, Micropenis	OMIM:614897
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Enlarged kidney, Tubulointerstitial fibrosis, Nephrocalcinosis, Epistaxis, Stage...	ORPHA:79259
Castleman Disease	Intestinal obstruction, Abdominal distention, Jaundice, Hematuria, Abdominal pain, Ureteral obstr...	ORPHA:160
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis	OMIM:213980
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ...	ORPHA:488627
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thin vermilion border, Anteverted nares, High palate, Vomiting, Hypoplasia of the maxilla, Feedin...	ORPHA:481152
Cirrhosis, Familial	Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Increased level of L-fucos...	OMIM:215600
Crouzon Syndrome	Narrow palate, Choanal atresia, Hypoplasia of the maxilla, Conjunctivitis, Convex nasal ridge, Ir...	ORPHA:207
High Altitude Pulmonary Edema	Nausea and vomiting, Hypoxemia, Cyanosis, Anorexia	ORPHA:330012
Robinow Syndrome, Autosomal Dominant 3	Triangular mouth, Dental malocclusion, Gingival overgrowth, Vesicoureteral reflux, Pulmonary arte...	OMIM:616894
Zttk Syndrome	Chronic diarrhea, Bifid uvula, Intrauterine growth retardation, Short philtrum, Abnormality of th...	OMIM:617140
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cryptorchidism, Aminoaciduria, Gastroesophageal reflux	OMIM:249270
Orofaciodigital Syndrome Ii	Bifid nasal tip, High palate, Agenesis of central incisor, Short stature, Hypoplasia of the maxil...	OMIM:252100
Nicolaides-Baraitser Syndrome	Wide nasal base, Everted lower lip vermilion, Wide mouth, Broad philtrum, Umbilical hernia, Long ...	OMIM:601358
Choanal Atresia	Nasal congestion, Choking episodes, Feeding difficulties, Cyanosis, Chronic sinusitis	ORPHA:137914
Elsahy-Waters Syndrome	Bifid nasal tip, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philtrum, Impacted to...	OMIM:211380
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, Dysphagia, Cryptorchidism	ORPHA:494344
Sanjad-Sakati Syndrome	Intestinal obstruction, Thin vermilion border, Hypoparathyroidism, Congenital hypoparathyroidism,...	ORPHA:2323
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Hypospadias, Cleft upper lip, Cleft palate, Shawl scrotum, Cryptorchidism, Mi...	OMIM:600460
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Diarrhea, Growth delay, Vomiting, Fat malabsorption	ORPHA:71
Congenital Syphilis	Large placenta, Hyperplasia of the maxilla, Purpura, Diarrhea, Petechiae, High palate, Notched pr...	ORPHA:499009
Arboleda-Tham Syndrome	Bifid nasal tip, Intestinal malrotation, Wide mouth, Dysphagia, Intrauterine growth retardation, ...	OMIM:616268
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Dyspnea, Microscopic hematuria, Thickened glomerular basement membrane, A...	OMIM:308940
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis	ORPHA:621
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Short philtrum, Hydronephrosis, Cleft palate, Absent gallbladder, Cryptorchidism, Mi...	ORPHA:163979
Cree Mental Retardation Syndrome	Cryptorchidism, Bifid scrotum, Hypospadias, Cleft soft palate	OMIM:606851
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Meningocele, Anteverted nares, Glossoptosis, Renal cyst, Short stature, Multicystic k...	ORPHA:2031
Arthrogryposis, Distal, Type 2A	Postnatal growth retardation, Short nose, Spina bifida occulta, Dental crowding, Mandibular progn...	OMIM:193700
Autosomal Recessive Omodysplasia	Short nose, Rhizomelia, Pterygium, Anteverted nares, Short stature, Micrognathia, Long philtrum, ...	ORPHA:93329
Fixed Drug Eruption	Stomatitis, Oral ulcer, Vaginal mucosal ulceration	ORPHA:293812
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Widely spaced teeth, Hypospadias, Gastroesophageal reflux, High palate, Narrow mouth, Tented uppe...	OMIM:300260
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Microcor...	OMIM:229400
Hydrolethalus	Gingival cleft, Anencephaly, Abnormal fallopian tube morphology, Bifid uvula, Unilateral cleft li...	ORPHA:2189
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Thoracoabdominal Syndrome	Anencephaly, Hypospadias, Renal agenesis, Cleft upper lip, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Spina bifida, Dysphagia, Feeding difficulties, Cyanosis	OMIM:207950
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Purpura, Recurrent aphthous stomatitis, Diar...	ORPHA:343
Meier-Gorlin Syndrome 4	Thick lower lip vermilion, Narrow mouth, Short stature, Hypoplasia of the maxilla, Micrognathia, ...	OMIM:613804
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Taurodontia, Abnormality iris morphology...	ORPHA:2710
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Vesicoureteral reflux, Anomalous pulmonary venous r...	OMIM:616368
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Smith-Kingsmore Syndrome	Short nose, Rhizomelia, Umbilical hernia, Wide mouth, Feeding difficulties, Open mouth, Smooth ph...	OMIM:616638
Distal Duplication 17Q	Short philtrum, Vesicoureteral reflux, High palate, Renal duplication, Wide mouth, Cleft palate, ...	ORPHA:3379
Tetrasomy 9P	Abnormal number of permanent teeth, Dental crowding, Bifid uvula, Multiple renal cysts, Umbilical...	ORPHA:3310
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Thin vermilion border, Decreased response to growth hormone stimulation test, High, narrow palate...	ORPHA:96182
Antley-Bixler Syndrome	Short nose, Anteverted nares, Abnormal renal morphology, Narrow mouth, Choanal atresia, Cleft pal...	ORPHA:83
Angelman Syndrome	Widely spaced teeth, Hyperactivity, Mandibular prognathia, Protruding tongue, Constipation, Hypop...	OMIM:105830
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, High palate, Tented upper lip vermilion, Small scrotum, Recurrent respiratory infectio...	ORPHA:98905
Martin-Probst Syndrome	Thick lower lip vermilion, Renal insufficiency, Hypoplastic nipples, Bifid scrotum, Chordee, Wide...	OMIM:300519
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Short philtrum, High palate, Smooth philtrum, Long philtrum, Cryptorchidism...	OMIM:618929
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Functional abnormality of the gastrointestinal tract, ...	ORPHA:1340
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Hypospadias, Disproportionate short-limb short stature, Tube feeding, Short ...	OMIM:619479
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal palate morphology, Cryptorchidism, Hypoplasia of penis	ORPHA:3082
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex ...	ORPHA:93262
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Severe postnatal growth retardation, Vesicoureteral reflux, Micrognathia, Recurrent u...	ORPHA:3078
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Inflammation of the large intestine, Interstitial emphysema, Pulmonary hypo...	OMIM:619708
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Short stature, Cataract, Depressed nasal bridge	OMIM:302950
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Death in childhood, Severe postnatal growth retardation, Anteverted nares, Gingi...	OMIM:252500
Dysostosis, Stanescu Type	Abnormal palate morphology, Narrow nasal bridge, Abnormal dental enamel morphology, Abnormality o...	ORPHA:1798
Gapo Syndrome	Short nose, High, narrow palate, Thick lower lip vermilion, Tubulointerstitial fibrosis, Antevert...	OMIM:230740
Pituitary Stalk Interruption Syndrome	Death in infancy, Cryptorchidism, Ectopic posterior pituitary, Hypoplasia of penis	ORPHA:95496
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Abnormal lung lobation, Anal atresia, Tooth agenesis, ...	ORPHA:2063
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Microphallus	OMIM:300957
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Long philtrum, Anteverted nares, Hypoplasia of the zygomatic bone, Wide nose	ORPHA:3074
Early Infantile Epileptic Encephalopathy	Precocious puberty, Ureterocele, Cleft palate, Umbilical hernia, Renal dysplasia, Micropenis	ORPHA:1934
Floating-Harbor Syndrome	Long nose, Microdontia, Impulsivity, Nephrocalcinosis, Wide mouth, Congenital posterior urethral ...	ORPHA:2044
Erdheim-Chester Disease	Abnormal pulmonary interstitial morphology, Dysuria, Pleural effusion, Hydronephrosis, Pulmonary ...	ORPHA:35687
Down Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Microdontia, Umbilical hernia, Narrow palate, Aganglio...	ORPHA:870
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Anal stenosis, Multicystic kidney dysplasia, Delayed...	OMIM:606170
Van Esch-O'Driscoll Syndrome	Short nose, Retrognathia, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Im...	OMIM:301030
Hypoglossia-Hypodactyly Syndrome	High palate, Narrow mouth, Anal atresia, Death in infancy, Feeding difficulties in infancy, Micro...	ORPHA:989
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract	ORPHA:2273
Atelosteogenesis, Type Iii	Rhizomelia, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Depressed na...	OMIM:108721
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Short nose, Anteverted nares, Abnormality of the dentition, Catarac...	OMIM:612394
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Delayed puberty, Supernumerary tooth, Short stature, Carious teeth, Micrognathia, Hypoplasia of t...	ORPHA:3145
Ear-Patella-Short Stature Syndrome	Epispadias, Retrognathia, High, narrow palate, Hypospadias, Hypoplasia of penis, Narrow mouth, Ma...	ORPHA:2554
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Thick lower lip vermili...	ORPHA:506358
Oculocerebrocutaneous Syndrome	Cryptorchidism, Cleft palate, Orbital encephalocele	OMIM:164180
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Prominent nose, Growth delay, Acrocyanosis, Long philtrum	OMIM:614407
Stickler Syndrome, Type I	Anteverted nares, Micrognathia, Bifid uvula, Pierre-Robin sequence, Cleft palate, Malar flattenin...	OMIM:108300
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal palate morphology, Short nose, Anteverted nares, Narrow mouth, Corneal opacity, Microdon...	ORPHA:2719
Bnar Syndrome	Renal agenesis	ORPHA:217266
German Syndrome	Orofacial cleft, High palate, Everted lower lip vermilion, Dysphagia, Open mouth, Ambiguous genit...	ORPHA:2077
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Solitary median maxillary central incisor, Hypospadias, Bifid scrotum, Wid...	ORPHA:217346
Septo-Optic Dysplasia Spectrum	Esophageal atresia, Hypoplasia of penis, Anterior pituitary hypoplasia, Tracheoesophageal fistula...	ORPHA:3157
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Agitation, Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Micropenis	OMIM:613870
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Absent nares, Single naris, Tooth malposition, Hyposmia, Hypoplasia of penis, Anosmia, Failure of...	ORPHA:2250
Congenital Pulmonary Lymphangiectasia	Growth delay, Cyanosis, Gastroesophageal reflux	ORPHA:2414
Seckel Syndrome 1	Clitoral hypertrophy, Hypospadias, Dental crowding, Selective tooth agenesis, High palate, Enamel...	OMIM:210600
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Duplicated collecting system	ORPHA:541423
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Rhizomelia, Anteverted nares, Ectodermal dysplasia, Hig...	OMIM:218330
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Widely spaced teeth, Gingival overgrowth, Corneal opacity, Dermatan...	OMIM:253220
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Hydronephrosis, High palate	ORPHA:35173
Doors Syndrome	Broad alveolar ridges, Adrenal hyperplasia, Nephrocalcinosis, Long philtrum, Narrow palate, Siren...	ORPHA:79500
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Diamond-Blackfan Anemia 8	Short nose, Growth delay, Short stature, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Jaundice, Hepatic failure, Death in infancy, 4-Hydroxyphenylpyruvic aciduri...	OMIM:617156
Sim1-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypoplastic labia minora,...	ORPHA:398079
Chromosome 6Q24-Q25 Deletion Syndrome	Long philtrum, High, narrow palate, Anteverted nares, High palate, Growth delay, Feeding difficul...	OMIM:612863
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties	OMIM:619239
Perlman Syndrome	Distal ileal atresia, Everted upper lip vermilion, Nephroblastomatosis, Long upper lip, Renal ham...	OMIM:267000
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short philtrum, High palate, Narrow mouth, Precocious puberty, Pyloric stenosis, Cleft palate, Bi...	ORPHA:96184
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Delayed eruption of teeth, Growth delay, Enamel hypoplasia, Protuberan...	OMIM:264700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Corneal erosion, Abnormality of the anus, Symblepharon, Anorex...	ORPHA:95455
Intellectual Developmental Disorder, Autosomal Recessive 65	Thin vermilion border, Hypospadias, Smooth philtrum, Cryptorchidism, Supernumerary nipple	OMIM:618109
Pycnodysostosis	Convex nasal ridge, Rhizomelia, Disproportionate short-limb short stature, Hypodontia, Obtuse ang...	ORPHA:763
Al-Raqad Syndrome	Short nose, Narrow mouth, Thin upper lip vermilion, Chronic constipation	OMIM:616459
Microphthalmia With Limb Anomalies	Postnatal growth retardation, Short nose, Retrognathia, Flared nostrils, High palate, Growth dela...	OMIM:206920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Pneumonia, Hypospadias, Recurrent respiratory infections, Gas...	ORPHA:353281
Digeorge Syndrome	High, narrow palate, Atelectasis, Unilateral renal agenesis, Cholelithiasis, Short philtrum, Gast...	OMIM:188400
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Dental crowding, Narrow mouth, High palate, Long philtrum, Poor wound healing	OMIM:615539
Ritscher-Schinzel Syndrome 4	Narrow palate, Short philtrum, High palate, Wide mouth, Thick vermilion border, Dysphagia, Crypto...	OMIM:619435
Autosomal Recessive Multiple Pterygium Syndrome	Absence of labia majora, Long philtrum, Orofacial cleft, Spina bifida occulta, Hypoplasia of peni...	ORPHA:2990
Ohdo Syndrome, Sbbys Variant	Hypospadias, Microdontia, Cleft palate, Cryptorchidism, Thin upper lip vermilion	OMIM:603736
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate, Feeding difficulties	ORPHA:209908
Warburg Micro Syndrome 4	Long philtrum, Narrow mouth, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Fg Syndrome Type 1	Hypospadias, Small pituitary gland, Gastroesophageal reflux, Dental crowding, High palate, Anal a...	ORPHA:93932
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis	ORPHA:261337
Jackson-Weiss Syndrome	Convex nasal ridge, Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Ogden Syndrome	Everted upper lip vermilion, Enlarged kidney, Tube feeding, Bifid nasal tip, Dysphagia, Umbilical...	OMIM:300855
Tetrasomy 18P	Thin vermilion border, Short nose, Narrow mouth, Long philtrum, Achalasia	ORPHA:3307
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Central apnea, Neonatal death, Respiratory distress	OMIM:616482
Microphthalmia, Syndromic 6	Anterior hypopituitarism, High palate, Female hypogonadism, Renal hypoplasia, Bifid uvula, Cleft ...	OMIM:607932
Microlissencephaly-Micromelia Syndrome	Fetal pyelectasis, Respiratory distress	ORPHA:50810
Charge Syndrome	Horseshoe kidney, Anterior hypopituitarism, Delayed eruption of teeth, Labial hypoplasia, Abnorma...	ORPHA:138
Dermotrichic Syndrome	Short nose, Aganglionic megacolon, Proportionate short stature, Aminoaciduria, Depressed nasal br...	ORPHA:99688
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Intermittent jaundice, Episodic abdominal pain, Nausea,...	ORPHA:100085
Wilson Disease	Abdominal distention, Sunflower cataract, Increased urinary copper concentration, Jaundice, Renal...	OMIM:277900
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Thin vermilion border, Long philtrum, Rectal prolapse, Short nose, Retrognathia, Gastroesophageal...	OMIM:617157
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Respiratory distress, Pelvic kidney, Vesico...	ORPHA:508488
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Broad alveolar ridges, Abnormal dental enamel ...	ORPHA:2750
Pontocerebellar Hypoplasia, Type 10	Short nose, Widely spaced teeth, Gastroesophageal reflux, Low hanging columella, High palate, Gro...	OMIM:615803
Leukodystrophy, Hypomyelinating, 10	Thin vermilion border, Short nose, Anteverted nares, Malar flattening, Smooth philtrum, Long phil...	OMIM:616420
Mucopolysaccharidosis, Type Ix	Short stature, Submucous cleft hard palate, Bifid uvula, Depressed nasal bridge	OMIM:601492
Laryngotracheal Angioma	Vomiting, Cyanosis, Feeding difficulties	ORPHA:137935
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Short nose, Death in childhood, Wide nose, Anteverted nares, Death ...	OMIM:613320
Donnai-Barrow Syndrome	Short nose, Intestinal malrotation, Proteinuria, Umbilical hernia, Depressed nasal bridge, Iris c...	ORPHA:2143
Laryngeal Abductor Paralysis	Cyanosis, Dysphagia	OMIM:150260
C Syndrome	Short nose, Renal cortical cysts, Thick anterior alveolar ridges, Anteverted nares, High palate, ...	OMIM:211750
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Polycoria, Hypospadias, Short philtrum, Aniridia, Oligodontia, Microcornea, Megalo...	OMIM:180500
Developmental And Epileptic Encephalopathy 111	Nephrolithiasis, Pulmonary artery stenosis, Umbilical hernia, Recurrent respiratory infections, C...	OMIM:620504
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intestinal malrotation, Cleft upper l...	OMIM:613091
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, High, narrow palate, Narrow mouth, Downturned corners of mouth, Abnormal oral mucosa m...	ORPHA:1968
Pfeiffer Syndrome	Short nose, Dental crowding, Mandibular prognathia, High palate, Choanal atresia, Hypoplasia of t...	OMIM:101600
Floating-Harbor Syndrome	Hypospadias, Short philtrum, Glandular hypospadias, Microdontia, Celiac disease, Varicocele, Cari...	OMIM:136140
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ...	ORPHA:284339
Lysosomal Acid Lipase Deficiency	Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Renal salt wasting, Ja...	ORPHA:275761
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Thyroid Ectopia	Abdominal distention, Jaundice, Short stature, Growth delay, Constipation, Dysphagia, Umbilical h...	ORPHA:95712
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Hypospadias, Hypoplasia of penis, Tracheoesophageal fistula, Cryptorchidism	ORPHA:77298
Holoprosencephaly 3	Solitary median maxillary central incisor, Bifid uvula, Hydronephrosis, Cleft palate, Cleft lip	OMIM:142945
Poikiloderma With Neutropenia	Short nose, Retrognathia, Underdeveloped nasal alae, Short stature, Carious teeth, Growth delay, ...	OMIM:604173
Leprechaunism	Postnatal growth retardation, Abdominal distention, Rectal prolapse, Enlarged kidney, Wide nose, ...	ORPHA:508
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Median cleft palate, Microphallus, Thick upper lip vermilion, Natal...	OMIM:612651
Mirage Syndrome	Hypospadias, Gastroesophageal reflux, Recurrent urinary tract infections, Achalasia, Aspiration p...	OMIM:617053
Acrodysostosis	Short nose, Delayed eruption of teeth, Anteverted nares, Mandibular prognathia, Open bite, Depres...	ORPHA:950
Branchioskeletogenital Syndrome	Ureteral stenosis, Bifid uvula, Umbilical hernia, Short philtrum, Periorbital wrinkles, Abnormali...	ORPHA:1299
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent corneal erosions, Abdominal distention, Jaundice, Corneal ulceration, Diarrhea, Reye sy...	OMIM:256810
Teebi Hypertelorism Syndrome 1	Short nose, Dental crowding, Anteverted nares, Short stature, Micrognathia, Natal tooth, Long phi...	OMIM:145420
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Melnick-Needles Syndrome	Stillbirth, Tooth malposition, Delayed eruption of teeth, Ureteral stenosis, Cleft palate, Hydron...	OMIM:309350
Chromosome 10Q26 Deletion Syndrome	Long philtrum, Vesicoureteral reflux, High palate, Smooth philtrum, Small scrotum, Cryptorchidism...	OMIM:609625
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Decreased response to growth hormone stimulation test, Congenital hypopara...	OMIM:241410
Multiple Endocrine Neoplasia Type 2	Abdominal distention, Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Elevated uri...	ORPHA:653
Microphthalmia, Syndromic 5	Cryptorchidism, Micropenis, Cleft palate, Ectopic posterior pituitary	OMIM:610125
Beckwith-Wiedemann Syndrome	Enlarged kidney, Renal cortical cysts, Vesicoureteral reflux, Macroglossia, Nephrolithiasis, Neph...	OMIM:130650
Brachytelephalangic Chondrodysplasia Punctata	Postnatal growth retardation, Short nose, Gastroesophageal reflux, Nasal congestion, Thick nasal ...	ORPHA:79345
Camptobrachydactyly	Septate vagina	ORPHA:1319
Donnai-Barrow Syndrome	Short nose, Cataract, Hypoplasia of the iris, Intestinal malrotation, Non-acidotic proximal tubul...	OMIM:222448
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Protein-losing enteropathy, Pleural effusion, Death in infancy, Hematochezia, Recurrent...	OMIM:618183
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Micropenis, Respiratory distress	ORPHA:2519
Apert Syndrome	Narrow palate, Esophageal atresia, Corneal erosion, Delayed eruption of teeth, Ectopic anus, Mand...	ORPHA:87
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Short nose, Wide nasal base, Premature skin wrinkling, Low hanging columel...	OMIM:601559
Aicardi Syndrome	Delayed puberty, Intestinal polyposis, Short philtrum, Gastroesophageal reflux, Constipation, Cle...	ORPHA:50
Breath-Holding Spells	Cyanosis	OMIM:607578
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Respiratory distress	OMIM:260400
Glycogen Storage Disease Ia	Delayed puberty, Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Ne...	OMIM:232200
Cadds	Intrauterine growth retardation, Short nose, Micrognathia, Cataract	ORPHA:369942
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Corneal opacity, Depressed nasal bridge	OMIM:618961
Pfeiffer Syndrome	Short philtrum, Mandibular prognathia, High palate, Short stature, Open mouth, Hypoplasia of the ...	ORPHA:710
Velocardiofacial Syndrome	Retrognathia, Short stature, Posterior embryotoxon, Velopharyngeal insufficiency, Cleft palate, P...	OMIM:192430
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Growth del...	OMIM:614749
Blepharonasofacial Malformation Syndrome	Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Long philtrum, Cryptorchidism	ORPHA:1252
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, High palate, Micrognathia, Nasogastric tube feeding, Dental malocclusion, Deep philtr...	ORPHA:329178
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Death in childhood, Short philtrum, Gastroesophageal reflux, Polycystic kidney dyspla...	OMIM:210710
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flattening, Aglossia, Pursed lips	OMIM:241310
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis	OMIM:154400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Motor stereotypy, Atte...	OMIM:619580
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Abnormal temper tantrums, Astigmatism, Chronic diarrhea, High palate, Pyloric stenosi...	ORPHA:457279
Cardioacrofacial Dysplasia 1	Short philtrum, Conical tooth, Hypoplasia of the maxilla, Overhanging nasal tip, Accessory oral f...	OMIM:619142
Fanconi Anemia, Complementation Group P	Pelvic kidney, Cryptorchidism, Horseshoe kidney	OMIM:613951
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Abdominal distention, Mydriasis, Anuria, Fetal megacystis, Renal cortical hyperech...	OMIM:619351
47,Xyy Syndrome	Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ...	ORPHA:8
Chronic Graft Versus Host Disease	Pneumothorax, Hematuria, Abnormal esophagus physiology, Gastroesophageal reflux, Abnormal vagina ...	ORPHA:99921
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Short nose, Anteverted nares, High palate, Feeding difficulties in infancy, Micrognathia, Tented ...	ORPHA:314655
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Hydronephrosis, High palate, Vesicoureteral reflux	OMIM:620663
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Dental crowding, Open bite, Hyperplasia of the maxilla	OMIM:613671
Ethylmalonic Encephalopathy	Diarrhea, Acrocyanosis, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Osteogenesis Imperfecta, Type X	Death in childhood, Nephrolithiasis, Respiratory distress	OMIM:613848
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed puberty, Hypospadias, Compulsive behaviors, Short stature, Attention deficit hyperactivit...	OMIM:618891
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Rhizomelia, Wide nose, Mandibular prognathia, Depressed nasal ridge	ORPHA:2831
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Thin vermilion border, Short nose, Keratoconjunctivitis sicca, Underdeveloped nasal alae, Mandibu...	OMIM:616007
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis, Dyspnea	OMIM:614921
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:90791
Meckel Syndrome, Type 3	Occipital encephalocele, Cleft palate, Multicystic kidney dysplasia, Bile duct proliferation	OMIM:607361
Achondrogenesis, Type Ia	Short nose, Stillbirth, Anteverted nares, Protruding tongue, Hypoplastic nasal bridge, Disproport...	OMIM:200600
Diamond-Blackfan Anemia 1	Spina bifida occulta, High palate, Renal hypoplasia, Cleft upper lip, Cleft palate, Colon cancer	OMIM:105650
Neu-Laxova Syndrome 1	Short umbilical cord, Stillbirth, Thick lower lip vermilion, Small placenta, Swollen lip, Hydrane...	OMIM:256520
Witteveen-Kolk Syndrome	Hyperactivity, Long philtrum, Intrauterine growth retardation, Male urethral meatus stenosis, Agg...	OMIM:613406
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, High palate	ORPHA:98913
Fg Syndrome 3	Pyloric stenosis, Cryptorchidism, Death in infancy	OMIM:300406
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Narrow mouth, Biliary hyperplasia, Pyloric stenosis, Hydro...	ORPHA:83617
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Dyspnea, Respiratory distress	OMIM:267450
Frontorhiny	Iris coloboma, Encephalocele, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of th...	ORPHA:391474
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Short nose, High palate, Short stature, Micrognathia, Broad nasal t...	OMIM:300749
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Cryptorchidism, Renal salt wasting	OMIM:614736
Cleidocranial Dysplasia	Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Abnorm...	ORPHA:1452
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Short stature, Feeding difficulties, Smooth philtrum, Chronic const...	OMIM:616430
Kaufman Oculocerebrofacial Syndrome	Short nose, Astigmatism, Anteverted nares, Microcornea, High palate, Narrow mouth, Short stature,...	OMIM:244450
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Recurrent bronchitis, Anal atresia, Cleft uppe...	OMIM:251260
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Neonatal death	OMIM:602199
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Short philtrum, Microphallus, Small scrotum, Cryptorchidism, Micropenis, Thin upper lip vermilion	OMIM:300486
Opsismodysplasia	Short nose, Rhizomelia, Disproportionate short-limb short stature, Renal phosphate wasting, Antev...	OMIM:258480
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Corneal erosion, Short philtrum, Corneal ulceration, Oligodontia, Vesicour...	OMIM:609460
Adrenal Hypoplasia, Congenital	Renal salt wasting, Azoospermia, Oligozoospermia, Precocious puberty, Cryptorchidism, Hypogonadot...	OMIM:300200
Neu-Laxova Syndrome	Retrognathia, Pterygium, Abnormality of the philtrum, Everted lower lip vermilion, Depressed nasa...	ORPHA:2671
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Large placenta, Exaggerated cupid's bow, Hydronephrosis, Open mouth, Umbilical hernia, Macroglossia	ORPHA:254528
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Oral ulcer, Nephrolithias...	OMIM:232220
Chromosome Xq27.3-Q28 Duplication Syndrome	Thin vermilion border, Decreased testicular size, Hypogonadism, Increased circulating gonadotropi...	OMIM:300869
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal gastrointestinal tract morphology, Abnormal oral frenulum morphology, Intestinal malrota...	ORPHA:404440
Cerebrooculonasal Syndrome	Postnatal growth retardation, Narrow palate, Short nose, Solitary median maxillary central inciso...	OMIM:605627
Marshall-Smith Syndrome	Short nose, Retrognathia, Anteverted nares, Gingival overgrowth, Choanal atresia, Protruding tong...	ORPHA:561
Nablus Mask-Like Facial Syndrome	Short nose, Retrognathia, Anteverted nares, High palate, Abnormality of the dentition, Everted lo...	OMIM:608156
Atelosteogenesis Type Ii	Rhizomelia, Wide nasal base, Bilateral cleft palate, Rhizomelic arm shortening, Micrognathia, Cle...	ORPHA:56304
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Agitation, Hyperactivity, Anteverted nares, Gingival overgrowth, Poor s...	OMIM:620423
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uvula, Bifid uterus, Unilateral cleft lip, Cleft palate	ORPHA:2736
Alkuraya-Kucinskas Syndrome	Short nose, Anteverted nares, High palate, Micrognathia, Cataract, Micropenis, Depressed nasal br...	OMIM:617822
Letterer-Siwe Disease	Stomatitis, Abdominal distention, Jaundice	OMIM:246400
Pleural Mesothelioma	Dyspnea, Respiratory distress	ORPHA:50251
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Acquired Methemoglobinemia	Vomiting, Abdominal pain, Hypoxemia, Cyanosis	ORPHA:464453
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening	OMIM:248390
Mosaic Trisomy 16	Large placenta, Abnormality of the gastrointestinal tract, Hypospadias, Meckel diverticulum, Abno...	ORPHA:1708
Branchiogenic-Deafness Syndrome	Short stature, Trismus, Submucous cleft hard palate, Branchial fistula, Branchial cyst	OMIM:609166
Rin2 Syndrome	Abnormal lip morphology, Gingival overgrowth, High palate, Hypergonadotropic hypogonadism, Irregu...	ORPHA:217335
3Mc Syndrome 1	Spina bifida occulta, Dental crowding, Cleft upper lip, Hydronephrosis, Cleft palate, Cleft lip, ...	OMIM:257920
Hypoadrenocorticism, Familial	Vomiting, Cyanosis, Feeding difficulties in infancy	OMIM:240200
Premature Aging Syndrome, Penttinen Type	Thin vermilion border, Short nose, Retrognathia, Delayed eruption of teeth, Prematurely aged appe...	OMIM:601812
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Short nose, Short philtrum, Hypoplasia of penis, Spina bifida occulta, Dow...	ORPHA:2983
Distal Duplication 5Q	Thin vermilion border, Short nose, Hypospadias, Narrow mouth, Short stature, Carious teeth, Micro...	ORPHA:96097
Viss Syndrome	Retrognathia, Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, ...	OMIM:619472
Meier-Gorlin Syndrome 6	Delayed puberty, Short nose, Gastroesophageal reflux, Anteverted nares, Underdeveloped nasal alae...	OMIM:616835
Ovarian Fibrothecoma	Ovarian fibroma, Pleural effusion, Abnormality of the ovary, Abnormal endometrium morphology, Gon...	ORPHA:314478
Meier-Gorlin Syndrome 3	Hypospadias, Gastroesophageal reflux, Narrow mouth, Short stature, Hypoplasia of the maxilla, Mic...	OMIM:613803
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Hydronephrosis	ORPHA:101000
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Dilatation of renal calices, Cleft upper lip, Cleft palate, Tented upper l...	OMIM:614294
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Death in childhood, Protruding tongue, Bifid uvula, Cleft palate, Umbilica...	OMIM:612938
Dyskeratosis Congenita, Autosomal Dominant 3	Abnormal pulmonary interstitial morphology, Gastrointestinal hemorrhage, Urethral stricture, Uret...	OMIM:613990
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Laryngomalacia	Respiratory distress	OMIM:150280
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis	ORPHA:90348
Bdv Syndrome	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:619326
19P13.12 Microdeletion Syndrome	Thin vermilion border, Hypospadias, Hypodontia, Precocious puberty, Cleft palate, Long philtrum, ...	ORPHA:254346
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Supernumerary tooth, Short nose, Delayed eruption of teeth, Cutaneous ...	OMIM:268400
Orofaciodigital Syndrome Type 10	Retrognathia, Cleft soft palate, Micrognathia, Long philtrum, Accessory oral frenulum, Depressed ...	ORPHA:2756
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Pulmonary hypoplasia, Testicular atrophy	OMIM:601163
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Short philtrum, High palate, Cleft upper lip, Cleft palate, Deep philtrum, T...	OMIM:612530
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Oligodontia, Abnormality of the dentition, Short stature, Hypoplasia of the maxilla,...	ORPHA:2095
C Syndrome	Thin vermilion border, Short nose, Renal hypoplasia/aplasia, Anteverted nares, Gingival overgrowt...	ORPHA:1308
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Gastroesophageal reflux, Renal tubular acidosis, High palate, Narrow mouth, Proportio...	OMIM:613457
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Nausea and vomiting	ORPHA:370348
Cornelia De Lange Syndrome	Delayed puberty, Hypoplasia of penis, Intestinal malrotation, Cutis marmorata, Long philtrum, Int...	ORPHA:199
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
8Q21.11 Microdeletion Syndrome	Short philtrum, Hypoplasia of penis, Exaggerated cupid's bow, High palate, Abnormality of the den...	ORPHA:284160
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Renal cyst, Bile duct proliferation, Cleft palate	OMIM:611134
Ring Chromosome 12 Syndrome	Breast hypoplasia, High, narrow palate, Glandular hypospadias, Cryptorchidism, Uterine leiomyoma	ORPHA:1439
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Corneal erosion, Gastroesophageal reflux, Corneal opac...	ORPHA:1764
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate...	OMIM:170390
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Tyshchenko Syndrome	Narrow palate, High, narrow palate, High palate, Cleft palate, Cryptorchidism, Supernumerary nipple	OMIM:615102
Diamond-Blackfan Anemia	Developmental glaucoma, Hypospadias, Cleft soft palate, Horseshoe kidney, High palate, Adenocarci...	ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Hypospadias, Gastroesophageal reflux, Dental crowding, Narrow mouth, Bilateral cryptorchidism, De...	OMIM:300998
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Supernumerary tooth, Agenesis of molar, Hypospadias, Microdontia, Diastema, Cryptorchidism, Micro...	OMIM:619718
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Micropenis, Dysphagia, Death in childhood	OMIM:619847
Microphthalmia, Syndromic 2	Supernumerary tooth, Radiculomegaly, Hypospadias, Dental malocclusion, Delayed eruption of teeth,...	OMIM:300166
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Increased overbite, High palate, Prominent nasal bridge, Hypoplasia of the zygomati...	ORPHA:319171
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Long philtrum, Short nose	OMIM:300887
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Respiratory distress, Elevated urine 2-methylcitric...	OMIM:251100
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress	ORPHA:254875
Acrocardiofacial Syndrome	Hypospadias, Hypoplasia of penis, Anal atresia, Death in infancy, Cleft upper lip, Cleft palate, ...	ORPHA:2008
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Lathosterolosis	Short nose, Anteverted nares, Prominent nasal tip, Cataract, Thick upper lip vermilion, Micrognat...	OMIM:607330
Mullegama-Klein-Martinez Syndrome	Short philtrum, Prominent nose, Short stature, Submucous cleft of soft and hard palate, Micrognat...	OMIM:301022
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Encephalocele	OMIM:200130
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Disproportionate short-trunk short stature, Protuberant abdomen	OMIM:613330
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Gastrostomy tube feeding in infancy, Long nose, Short nose, High palate, Downturned corners of mo...	OMIM:618590
Mosaic Trisomy 1	Orofacial cleft, Thick lower lip vermilion, Renal cortical cysts, Pulmonary artery atresia, Renal...	ORPHA:1692
Cryptogenic Organizing Pneumonia	Anorexia, Hypoxemia, Cyanosis	ORPHA:1302
Congenital Disorder Of Glycosylation, Type Il	Short nose, Polycystic kidney dysplasia, Wide mouth, Long philtrum, Depressed nasal bridge, Villo...	OMIM:608776
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia, Micropenis, Hypospadias, Dysphagia	ORPHA:171430
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypoplasia of the tooth germ, Decreased testicular size, Bifid uvula, Cryptorchidism, Micropenis,...	ORPHA:293967
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Severe short stature, Umbilical hernia, Long philtrum, Anodont...	ORPHA:3107
Congenital Disorder Of Glycosylation, Type Ig	Micropenis, Hypospadias, Respiratory distress	OMIM:607143
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Anal atresia, Chordee, Cleft palate, Colonic atresi...	OMIM:309801
Dyskeratosis Congenita	Premature graying of hair, Periodontitis, Hypodontia, Abnormality of the dentition, Tracheoesopha...	ORPHA:1775
Stickler Syndrome	Glossoptosis, Tooth agenesis, Bifid uvula, Long philtrum, Advanced eruption of teeth, Astigmatism...	ORPHA:828
Ethylene Glycol Poisoning	Renal tubular epithelial necrosis, Gastritis, Hematuria, Renal tubular dysfunction, Vomiting, Nau...	ORPHA:31826
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Proximal renal tubular acidosis	OMIM:615824
Pontocerebellar Hypoplasia, Type 7	High palate, Thick upper lip vermilion, Ambiguous genitalia, Cryptorchidism, Micropenis, Deep phi...	OMIM:614969
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hyperactivity, Impulsivity, Broad philtrum, Intrauterine growth retardation, Bru...	OMIM:619475
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Global Developmental Delay With Speech And Behavioral Abnormalities	Anal atresia, Precocious puberty, Cryptorchidism, Supernumerary nipple, Thin upper lip vermilion	OMIM:619243
Ehlers-Danlos Syndrome, Classic Type, 1	Bowel diverticulosis, Fragile skin, Short stature, Irregularly spaced teeth, Recurrent sinusitis,...	OMIM:130000
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pulmonary hypoplasia, Cleft palate, Intestinal hypoplasia	ORPHA:994
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in childhood, Unilateral renal agenesis, Hypospadias, Death in infancy, Renal agenesis, Neo...	OMIM:308205
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hypoplasia of the primary teeth, Death in childhood, Hypospadias, Rectovagi...	OMIM:243800
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:619761
Bronchopulmonary Dysplasia	Dyspnea, Central apnea, Respiratory distress	ORPHA:70589
Crane-Heise Syndrome	Cryptorchidism, Cleft palate, Hypoplasia of penis	ORPHA:1512
Holoprosencephaly	Solitary median maxillary central incisor, Hypoplasia of penis, Anosmia, Tooth agenesis, Broad ph...	ORPHA:2162
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Cyanosis, Ketonuria, Hepatic failure	OMIM:261680
Opitz-Kaveggia Syndrome	Narrow palate, Thick lower lip vermilion, Anal stenosis, Hypospadias, Dental crowding, Anal atres...	OMIM:305450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Bifid scrotum, Abs...	OMIM:201810
Aicardi Syndrome	Postnatal growth retardation, Anteverted nares, Spina bifida, Cleft upper lip, Cleft palate, Cata...	OMIM:304050
Frontometaphyseal Dysplasia	Spina bifida occulta, Oligodontia, Ureteral obstruction, Bifid uvula, Hydronephrosis, Cleft palat...	ORPHA:1826
Peho Syndrome	Abnormal palate morphology, Short nose, Anteverted nares, Gingival overgrowth, Feeding difficulti...	ORPHA:2836
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Hypospadias, Anteverted nares, Downturned corners of mouth, Cleft palate, Pierre-Robi...	OMIM:217980
Ohdo Syndrome, X-Linked	Long philtrum, Thin vermilion border, Widely spaced teeth, High palate, Narrow mouth, Microdontia...	OMIM:300895
Thanatophoric Dysplasia, Type I	Lethal short-limbed short stature, Neonatal death, Protuberant abdomen, Disproportionate short-li...	OMIM:187600
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Respiratory distress	OMIM:620306
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Rhizomelia, Severe intrauterine growth retardation, Narrow mouth, Short stature, Grow...	OMIM:614114
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Cleft palate, Pulmonary hypoplasia, Multiple renal cysts, Ma...	ORPHA:1190
Ctcf-Related Neurodevelopmental Disorder	Thin vermilion border, Short nose, Abnormal temper tantrums, Short philtrum, Gastroesophageal ref...	ORPHA:363611
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Intestinal malrotation, Cleft palate, Pulmonary hypoplasia, Microglo...	OMIM:263520
Monosomy 9Q22.3	Orofacial cleft, Short nose, Odontogenic keratocysts of the jaw, Delayed eruption of teeth, Hyper...	ORPHA:77301
Lymphangioleiomyomatosis	Pneumothorax, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Rec...	ORPHA:538
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Microcornea, Growth delay, Hypoplasia of teeth, Kerat...	OMIM:234050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Rhizomelia, Protuberant abdomen, Depressed nasal b...	OMIM:151210
Perrault Syndrome 4	Hypoplasia of the ovary, Bicornuate uterus, Cleft palate, Increased circulating gonadotropin leve...	OMIM:615300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Dental crowding, Bifid scrotum, Bifid uvula, Dysphagia, Septate vagina, Aga...	ORPHA:261537
Bartsocas-Papas Syndrome 1	Tessier cleft, Short nose, Axillary pterygium, Anal stenosis, Popliteal pterygium, Ectopic kidney...	OMIM:263650
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Recurren...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Testicular neoplasm, Recurren...	ORPHA:363958
Colonic Atresia	Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia	ORPHA:1198
Chromosome 8Q21.11 Deletion Syndrome	Short philtrum, Exaggerated cupid's bow, High palate, Downturned corners of mouth, Cleft palate, ...	OMIM:614230
Distal Deletion 9P	Short nose, High, narrow palate, Hypospadias, Abnormality of the dentition, Cleft palate, Wide na...	ORPHA:1642
Hajdu-Cheney Syndrome	Delayed puberty, Intestinal malrotation, Multiple renal cysts, Umbilical hernia, Long philtrum, H...	ORPHA:955
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Cleft palate, Pulmonary hypoplas...	OMIM:616546
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Thin vermilion border, Disproportionate short-limb short stature	OMIM:602557
Brain-Lung-Thyroid Syndrome	Megacystis, Vesicoureteral reflux, Hypospadias, Respiratory distress	ORPHA:209905
Laryngotracheoesophageal Cleft	Choking episodes, Impaired oropharyngeal swallow response, Cyanosis	ORPHA:2004
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Narrow palate, Hepatic hemangioma, Hypospadias, Talon cusp,...	OMIM:180849
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Underdeveloped nasa...	OMIM:305100
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Narrow mouth, Neonatal death, Pulmonary hypoplasia, Cryptorchidism	OMIM:224410
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Cholesteryl Ester Storage Disease	Steatorrhea, Diarrhea, Esophageal varix, Death in infancy, Vomiting, Acute hepatic failure, Protu...	OMIM:278000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Short philtrum, Cleft upper l...	OMIM:601808
X-Linked Mandibulofacial Dysostosis	Branchial anomaly, High palate, Short stature, Micrognathia, Prominent nasal bridge, Hypoplasia o...	ORPHA:1131
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Anteverted nares, Narrow mouth, Choanal atresia, Tooth agenesis, Cleft palate, Mal...	ORPHA:1555
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short stature, Short nose, Stereotypical hand wringing	ORPHA:289266
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Death in childhood, Hypospadias, Neonatal death, Umbilical hernia, L...	OMIM:614052
Trichorhinophalangeal Syndrome, Type Ii	Hydrometrocolpos, Partial anomalous pulmonary venous return, Gastroesophageal reflux, Chronic gas...	OMIM:150230
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Campomelic Dysplasia	Hypospadias, Recurrent lower respiratory tract infections, Narrow mouth, High palate, Spina bifid...	OMIM:114290
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Bifid scrotum, Everted lower lip vermilion, Bifid uvula, D...	ORPHA:2152
Liver Disease, Severe Congenital	Narrow nasal ridge, Umbilical hernia, Intrauterine growth retardation, Jaundice, Hypospadias, Chr...	OMIM:619991
Occipital Horn Syndrome	High palate, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Long philtrum, Hiatus he...	OMIM:304150
Hypohidrotic Ectodermal Dysplasia	Keratoconjunctivitis sicca, Anteverted nares, Abnormality of the dentition, Tooth agenesis, Abnor...	ORPHA:238468
Weill-Marchesani Syndrome 1	Narrow palate, Tooth malposition, Microspherophakia, Proportionate short stature, Short stature, ...	OMIM:277600
Osteoglophonic Dysplasia	Short nose, Rhizomelia, Hypospadias, Delayed eruption of teeth, Anteverted nares, Eruption failur...	OMIM:166250
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Methylmalonic aciduria, Ketonuria	OMIM:251110
Arthrogryposis, Distal, Type 3	High palate, Short stature, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft hard palate	OMIM:114300
W Syndrome	Broad nasal tip, Upper lip pit, Submucous cleft hard palate, Broad uvula, Depressed nasal bridge,...	ORPHA:2804
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Gastroesophageal reflux, Chronic diarrhea, Vomiting, Thin upper lip vermilion	OMIM:620233
1P36 Deletion Syndrome	Abnormality of the kidney, Abnormal female external genitalia morphology, Annular pancreas, Hypos...	ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Bifid uvula, Umbilical hernia, Long philtrum, Aggressive behavior, Fixated interest...	OMIM:620330
Fanconi Anemia, Complementation Group A	Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Hypergonadotropic hypogo...	OMIM:227650
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Unilateral cleft palate, Micrognathia, Unilateral cleft lip, Submucous cleft ha...	OMIM:619122
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Paradoxical respiration, Respiratory distress	OMIM:620011
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Respiratory distress	ORPHA:86812
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Horseshoe kidney, Renal cyst	ORPHA:166035
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Constipation, Microretr...	OMIM:613603
Dravet Syndrome	Obsessive-compulsive trait, Cyanotic episode, Impulsivity	ORPHA:33069
Spermatogenic Failure 77	Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating follicle stimulati...	OMIM:620103
1P21.3 Microdeletion Syndrome	Short nose, Astigmatism, Micrognathia, Broad nasal tip, Wide mouth, Self-injurious behavior, Abno...	ORPHA:293948
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Idiopathic Neonatal Atrial Flutter	Tachypnea, Respiratory distress	ORPHA:45452
Cowden Syndrome 5	Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M...	OMIM:615108
Magel2-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Premature pubarche, Small pituitary gland, Gastroesophageal reflux, ...	ORPHA:398069
Gaucher Disease, Type Ii	Gastroesophageal reflux, Death in infancy, Dysphagia, Feeding difficulties, Trismus, Protuberant ...	OMIM:230900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Impulsivity, Wide mouth, Dysphagia, Bruxism, Pelvic kidney, Esophageal varix, Ur...	OMIM:619503
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Lateral Meningocele Syndrome	Meningocele, Dental crowding, Neurogenic bladder, High palate, Cleft palate, Smooth philtrum, Umb...	OMIM:130720
Otopalatodigital Syndrome, Type I	Short nose, Absent frontal sinuses, Selective tooth agenesis, Narrow mouth, Short stature, Cleft ...	OMIM:311300
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:614858
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	High palate, Micrognathia, Feeding difficulties, Prominent nose, Hyperplasia of the maxilla	OMIM:620194
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Polydipsia, Anteverted nares, Everted lower lip vermilion, Enuresis, Compulsive ...	ORPHA:293987
Fanconi Anemia, Complementation Group E	Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Cry...	OMIM:600901
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Meckel diverticulum, Intestinal malrotation, Wide mouth, Umbilical hernia, Dupli...	OMIM:312870
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Generalized aminoaciduria, Delayed eruption of teeth, Short stature...	ORPHA:289157
Orofaciodigital Syndrome I	Supernumerary tooth, Polycystic kidney dysplasia, High palate, Myelomeningocele, Ankyloglossia, A...	OMIM:311200
Scarf Syndrome	Hypoplastic nipples, Bifid scrotum, Cryptorchidism, Enamel hypoplasia, Umbilical hernia, Long phi...	OMIM:312830
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Umbilical hernia, Long ...	OMIM:612289
Colchicine Poisoning	Oliguria, Renal insufficiency, Respiratory distress	ORPHA:31824
X-Linked Intellectual Disability, Pai Type	Recurrent respiratory infections, Cryptorchidism, Narrow mouth, Hydrocele testis	ORPHA:85322
Bacterial Toxic-Shock Syndrome	Respiratory distress, Recurrent urinary tract infections, Tachypnea, Renal insufficiency, Glomeru...	ORPHA:36234
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Short nose, Narrow mouth, Megalocornea, Cataract, Growth delay, Cleft palate, Malar flattening, L...	OMIM:601353
Biotinidase Deficiency	Respiratory distress, Apnea, Organic aciduria, Hyperventilation	ORPHA:79241
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Short nose, Poor suck, High palate, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Dy...	OMIM:617527
Histiocytoid Cardiomyopathy	Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Vomiting, Cleft palate, Cyanosis	ORPHA:137675
Intellectual Developmental Disorder, Autosomal Dominant 42	Short philtrum, Neurogenic bladder, High palate, Ureteropelvic junction obstruction, Hydronephros...	OMIM:616973
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Ellis-Van Creveld Syndrome	Epispadias, Hypospadias, Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upp...	OMIM:225500
Primary Hyperoxaluria	Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Rootless teeth, Hyperoxalur...	ORPHA:416
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Nephrolithiasis, Aspiration pneumonia, Precocious...	ORPHA:438213
Neuroblastoma	Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci...	ORPHA:635
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Ablepharon Macrostomia Syndrome	Thin vermilion border, Excessive wrinkled skin, Corneal erosion, Hypoplasia of penis, Anteverted ...	ORPHA:920
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Cleft palate, Protuberant abdomen, Severe short-limb dwarfism	ORPHA:2347
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Shor...	ORPHA:2751
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Respiratory distress, Focal segmental glomerulosclerosis, N...	OMIM:614748
Mietens Syndrome	Short nose, Wide nose, Microcornea, Corneal opacity, Severe short stature, Sclerocornea, Cataract...	ORPHA:2557
Aicardi-Goutieres Syndrome 1	Purpura, Petechiae, Short stature, Feeding difficulties in infancy, Multiple gastric polyps, Prol...	OMIM:225750
Tricuspid Atresia	Cyanosis	ORPHA:1209
X-Linked Acrogigantism	Delayed puberty, Abdominal distention, Diastema, Polyphagia	ORPHA:300373
Chime Syndrome	Abnormality of the kidney, Supernumerary tooth, Short philtrum, Abnormality of the dentition, Mic...	ORPHA:3474
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Thin vermilion border, Emphysema, Pulmonary bulla, Periodontitis, Repeated pneumoth...	OMIM:130050
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Nausea	ORPHA:100086
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, Depressed nasal ridge, Short stature, Intrauterine growth retardation	OMIM:300863
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Anteverted nares, Mandibular prognathia, High palate, Narrow mouth, Median cleft...	OMIM:617402
Walker-Warburg Syndrome	Hypoplasia of penis, Microcornea, Corneal opacity, Bifid uvula, Cleft palate, Cataract, Submucous...	ORPHA:899
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Dental malocclusion, High palate, Hypoplasia of teeth, Cleft palate, Cleft lip, Cryp...	OMIM:603457
Hereditary Bullous Dystrophy, Macular Type	Corneal opacity, Short stature, Growth delay, Acrocyanosis, Cataract	ORPHA:1867
Metachromatic Leukodystrophy, Late Infantile Form	Abdominal distention, Urinary incontinence, Feeding difficulties in infancy	ORPHA:309256
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia, Feeding difficulties	ORPHA:1129
Lig4 Syndrome	Recurrent respiratory infections, Cryptorchidism, Micropenis	OMIM:606593
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Apnea, Respiratory distress	OMIM:261740
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Premature skin wrinkling, Wide nose, Delayed eruption...	OMIM:209885
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Extrapulmonary lobar sequestration, Hypoplasia of the small intestine, Pulmonary...	OMIM:200995
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Microretrognathia, Long phil...	ORPHA:228396
Lig4 Syndrome	Thin vermilion border, Cryptorchidism, Hypoplasia of penis	ORPHA:99812
Crouzon Syndrome	Deviated nasal septum, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of the max...	OMIM:123500
Ring Chromosome 7 Syndrome	Thin vermilion border, Short nose, Hypospadias, Short philtrum, Anteverted nares, Mandibular prog...	ORPHA:1449
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Greenberg Dysplasia	Stillbirth, Large placenta, Retrognathia, Rhizomelia, Disproportionate short-limb short stature, ...	OMIM:215140
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Abnormality of the kidney, Thin vermilion border, Narrow mouth, Esophagitis, Dys...	ORPHA:495818
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Respiratory distress, Nephrotic syndrome, Proteinuria, Heavy proteinuria, Urinar...	ORPHA:505248
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Death in infancy, Tachypnea, Respiratory distress	OMIM:614299
Hemorrhagic Fever-Renal Syndrome	Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubulointerstitial ne...	ORPHA:340
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Conical tooth, Abnormality of the dentition, Hypogonadism, Broad philtrum, Small s...	ORPHA:228390
Hereditary Spherocytosis	Growth delay, Abdominal pain, Jaundice, Abdominal distention	ORPHA:822
Native American Myopathy	Gastroesophageal reflux, High palate, Short stature, Downturned corners of mouth, Bifid uvula, Cl...	ORPHA:168572
Rhombencephalosynapsis	Short nose, Aganglionic megacolon, Esophageal atresia, Anteverted nares, Abnormal renal morpholog...	ORPHA:59315
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Smooth philtrum, Umbilical hernia, Hypoplasia of the zygomatic bone, Wide ...	ORPHA:1778
Pauci-Immune Glomerulonephritis	Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ...	ORPHA:93126
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Intestinal malrotation, Narrow palate, Abnormality of the kidney, Hypospadias, N...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Intestinal malrotation, Narrow palate, Abnormality of the kidney, Hypospadias, N...	ORPHA:353277
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Conjunctival hyperemia, Wide nasal bridge, Depressed nasal bridge	OMIM:167730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Chronic diarrhea, Bifid uvula, Dysphagia, Intrauterine growth retardation, Short p...	ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Multicystic kidney dysplasia, Decreased testicular size, Hy...	OMIM:615287
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Severe postnatal growth retardation, Corneal opacity, Depressed nasal tip, Hypoplasia ...	ORPHA:2399
Toriello-Carey Syndrome	Postnatal growth retardation, Abnormal palate morphology, Short nose, Aganglionic megacolon, High...	ORPHA:3338
Cowden Syndrome 6	Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M...	OMIM:615109
Hydatidiform Mole	Miscarriage, Enlarged uterus	ORPHA:99927
Warburg Micro Syndrome 2	Postnatal growth retardation, Short nose, Microcornea, Developmental cataract, Prominent nasal br...	OMIM:614225
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Umbilical hernia, Long philtrum, Short philtrum, Anteverted nares, C...	OMIM:618332
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Short nose, Retrognathia, Widely spaced teeth, Solitary median maxillary central incisor, Short p...	OMIM:301044
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Hyperventilation, Multiple glomerular cysts, Dyspnea, Apnea, Ep...	ORPHA:255210
Van Den Ende-Gupta Syndrome	High, narrow palate, Dental crowding, Underdeveloped nasal alae, High palate, Everted lower lip v...	OMIM:600920
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Growth delay, Exocrine pancreatic in...	ORPHA:309031
Cog5-Cdg	Urinary incontinence, Neurogenic bladder, High palate, Cryptorchidism, Micropenis	ORPHA:263487
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Miscarriage, Long philtrum, Intrauterine growth retardation, Large placenta, Short ...	ORPHA:96334
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Spina bifida occulta, Anteverted nares, Short stature, Downturned corners of mouth, T...	ORPHA:1185
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Respiratory distress	OMIM:616271
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Gastroesophageal reflux, Dental crowding, Open bite, High palate, Congenital posteri...	OMIM:620083
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Enlarged kidney, Pulmonary hypoplasia, Cystic renal dysplasia	OMIM:615415
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Rieger anomaly, Hypoplasia of the maxilla, Malar flattening, Abnormally prominent ...	OMIM:109120
Idiopathic Hypereosinophilic Syndrome	Abdominal distention, Chronic diarrhea, Abdominal pain, Vomiting, Angioedema, Urticaria, Cutis ma...	ORPHA:3260
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Hypospadias, Cyanosis	OMIM:250790
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Death in childhood, High palate, Spina bifida, Micrognathia, Neonatal death, Convex...	OMIM:614437
Prolidase Deficiency	Erythema, Cutaneous photosensitivity, Recurrent cystitis, Depressed nasal ridge, Carious teeth, M...	ORPHA:742
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, C...	OMIM:618820
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Plaa-Associated Neurodevelopmental Disorder	Short nose, High palate, Micrognathia, Impaired oropharyngeal swallow response, Tented upper lip ...	ORPHA:521426
Fanconi Anemia, Complementation Group D2	Annular pancreas, Ectopic kidney, Duplicated collecting system, Esophageal atresia, Pelvic kidney...	OMIM:227646
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
Meier-Gorlin Syndrome 1	Breast hypoplasia, Clitoral hypertrophy, Emphysema, Gastroesophageal reflux, Hypoplastic labia mi...	OMIM:224690
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia	OMIM:601809
Ulnar-Mammary Syndrome	Breast hypoplasia, Anal stenosis, Hypodontia, Anterior pituitary hypoplasia, Hypoplastic nipples,...	OMIM:181450
Autosomal Dominant Popliteal Pterygium Syndrome	Non-midline cleft of the upper lip, Bifid scrotum, Cleft palate, Fibrous syngnathia, Small scrotu...	ORPHA:1300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,...	ORPHA:1071
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Dental crowding, Iris atrophy, Bowel incontinence, Abnormal jaw morphology,...	ORPHA:261552
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
X-Linked Intellectual Disability, Snyder Type	Thick lower lip vermilion, Ectopic kidney, Hypospadias, Short philtrum, Dental crowding, High pal...	ORPHA:3063
Pancreatoblastoma	Abdominal distention, Jaundice, Diarrhea, Abdominal pain, Vomiting	ORPHA:677
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Death in infancy, Nephro...	ORPHA:534
Monosomy 9P	Hypospadias, High palate, Abnormality of the dentition, Narrow mouth, Ureteropelvic junction obst...	ORPHA:261112
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Macrocephaly/Autism Syndrome	Short nose, High palate, Long philtrum, Penile freckling, Depressed nasal bridge	OMIM:605309
8P11.2 Deletion Syndrome	Azoospermia, Hypoplasia of penis, High palate, Hypogonadism, Cryptorchidism, Hypogonadotropic hyp...	ORPHA:251066
Weiss-Kruszka Syndrome	Short nose, Anteverted nares, Exaggerated cupid's bow, Feeding difficulties, Broad philtrum	OMIM:618619
Uruguay Faciocardiomusculoskeletal Syndrome	Retrognathia, Wide nose, Everted lower lip vermilion, Thick vermilion border, Prominent nose, Hyp...	OMIM:300280
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Short nose, Prematurely aged appearance, Narrow mouth, Abnormality of the dentit...	ORPHA:90154
Cocaine Intoxication	Acute kidney injury, Hyperventilation, Hematuria, Respiratory distress, Proteinuria, Tachypnea, T...	ORPHA:90068
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Multiple Pterygium Syndrome, Escobar Variant	Absence of labia majora, Hypospadias, Triangular mouth, Hypoplastic nipples, High palate, Narrow ...	OMIM:265000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Short stature, Cleft palate, Wide mouth, Tented...	OMIM:614207
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Microcornea, Bladder diverticulum, Feeding difficulties, Umbilical hernia, Bru...	OMIM:614557
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Ectopic kidney, Everted lower...	ORPHA:1519
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Microscopic hematuria, Respiratory distress	ORPHA:319213
Faciocardiorenal Syndrome	Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Horseshoe kidney	ORPHA:1973
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Short nose, Anteverted nares, Pollakisuria, High palate, Proportionate short statu...	OMIM:227330
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Intestinal fistula, Hydronephrosis, Zollinger-Ellison syndrome, Functi...	ORPHA:100078
Waardenburg Syndrome Type 3	Acrocyanosis, Tented upper lip vermilion, Narrow nasal bridge	ORPHA:896
Limb-Mammary Syndrome	Cleft hard palate, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bil...	ORPHA:69085
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Urinary incontinence	ORPHA:309263
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Pfeiffer Syndrome Type 2	Short nose, High palate, Choanal atresia, Anal atresia, Intestinal malrotation, Cleft palate, Mal...	ORPHA:93259
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Cryptorchidism, Agenesis of lateral incisor, Bilateral cl...	OMIM:616788
Chronic Pneumonitis Of Infancy	Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress	ORPHA:91359
Jacobsen Syndrome	U-Shaped upper lip vermilion, Short nose, Hypospadias, Anteverted nares, Microcornea, Pyloric ste...	OMIM:147791
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Osteopetrosis With Renal Tubular Acidosis	Thick lower lip vermilion, Renal tubular acidosis, Tooth malposition, High palate, Nephrolithiasi...	ORPHA:2785
Hatipoglu Immunodeficiency Syndrome	Recurrent bronchitis, Cryptorchidism, Hypospadias	OMIM:620331
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long philtrum, Long nose, Short nose, Anteverted nares, Gingival overgrowth, Narrow mouth, Microg...	ORPHA:508533
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Irregular respiration, Death in infancy, Respiratory distress	OMIM:604377
Primary Sjögren Syndrome	Abnormality of the kidney, Abnormal pulmonary interstitial morphology, Vaginal dryness, Xerostomi...	ORPHA:289390
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, High, narrow palate, Widely spaced teeth, Deviated nasal septum, Short philtrum,...	OMIM:300967
Spondyloepimetaphyseal Dysplasia, Shohat Type	Disproportionate short stature, Abdominal distention, Severe short stature	ORPHA:93352
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, High, narrow palate, Hypospadias, Prematurely aged appearance, Abnormal dental enamel...	ORPHA:2658
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Narrow mouth, Cleft palate, Pulmonary hypoplasia, Cryptorchidism	ORPHA:1865
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadias, Respirator...	ORPHA:17
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Pancreatic Agenesis-Holoprosencephaly Syndrome	Solitary median maxillary central incisor, High palate, Hypoxemia, Abnormal external nose morphol...	ORPHA:556955
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Feeding difficulties in infancy	ORPHA:444013
Fucosidosis	Vascular skin abnormality, Corneal opacity, Abnormality of the dentition, Mucopolysacchariduria, ...	ORPHA:349
Monosomy 22Q13.3	Gastroesophageal reflux, Dental crowding, Vesicoureteral reflux, Hydronephrosis, Recurrent pyelon...	ORPHA:48652
Spondylocarpotarsal Synostosis Syndrome	Short nose, Anteverted nares, Renal cyst, Cataract, Enamel hypoplasia, Cleft palate, Failure of e...	OMIM:272460
Familial Glucocorticoid Deficiency	Renal salt wasting, Azoospermia, Recurrent urinary tract infections, Cryptorchidism, Precocious p...	ORPHA:361
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Microcephaly, Epilepsy, And Diabetes Syndrome 1	External genital hypoplasia, Gingival overgrowth, High palate, Tented upper lip vermilion, Hypogo...	OMIM:614231
Pitt-Hopkins Syndrome	Widely spaced teeth, Supernumerary nipple, Short philtrum, Gastroesophageal reflux, Wide mouth, O...	OMIM:610954
Pterygium Colli, Isolated	Short nose	OMIM:177990
Tuberous Sclerosis Complex	Abnormality of the kidney, Respiratory distress, Polycystic kidney dysplasia, Renal cell carcinom...	ORPHA:805
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Gastroesophageal reflux, Broad alveolar ridges, Vesicoureteral ref...	OMIM:616975
Pontocerebellar Hypoplasia, Type 2E	Short nose, Wide nose, Short stature, Micrognathia, Facial telangiectasia	OMIM:615851
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Premature loss of teeth, High palate, Narrow mouth, Ren...	OMIM:102500
Congenital Myopathy 9A	Cryptorchidism, Death in infancy	OMIM:618822
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large inte...	ORPHA:109
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Anencephaly, Short philtrum, Abnormality of the incis...	ORPHA:96176
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena...	ORPHA:93111
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Rectal abscess, Bloody diarrhea, Intestinal malrotation, Jejunoileal ulcera...	ORPHA:436252
Congenital Myopathy 22B, Severe Fetal	Short nose, Retrognathia, Short philtrum, Triangular mouth, Tube feeding, Dental crowding, High p...	OMIM:620369
Cockayne Syndrome Type 1	Hypoplasia of the primary teeth, Abnormality of the dentition, Cryptorchidism, Enamel hypoplasia,...	ORPHA:90321
Coffin-Lowry Syndrome	Narrow palate, Short nose, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Wide ...	OMIM:303600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cleft palate, Bifid nos...	ORPHA:306542
Distal Deletion 15Q	Hypospadias, Multicystic kidney dysplasia, Short philtrum, Abnormality of the dentition, Cleft pa...	ORPHA:1596
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
X-Linked Intellectual Disability, Nascimento Type	Thin vermilion border, Hypospadias, Peripheral pulmonary artery stenosis, Vesicoureteral reflux, ...	ORPHA:163956
Craniofrontonasal Syndrome	Breast hypoplasia, Hypospadias, Unilateral breast hypoplasia, Abnormality of the dentition, Cleft...	OMIM:304110
Ayme-Gripp Syndrome	Short nose, Mandibular prognathia, Narrow mouth, Abnormality of the dentition, Short stature, Cra...	OMIM:601088
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Hutchinson-Gilford Progeria Syndrome	Abnormal nasal tip morphology, Retrognathia, Dental crowding, Narrow nasal ridge, Narrow nasal ti...	ORPHA:740
Familial Nasal Acilia	Dyspnea, Respiratory distress	ORPHA:922
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Hypospadias, Gastroesophageal reflux, Horseshoe kidney, Anteverted nares, Vesicourete...	ORPHA:444077
Carnitine-Acylcarnitine Translocase Deficiency	Oliguria, Dicarboxylic aciduria, Cyanosis, Hepatic failure	ORPHA:159
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Urinary incontinence, Bowel incontinence	ORPHA:309271
Recurrent Respiratory Papillomatosis	Tachypnea, Dyspnea, Respiratory distress	ORPHA:60032
Mosaic Trisomy 20	Abnormality of the kidney, Cleft palate, Cleft lip, Cryptorchidism, Horseshoe kidney	ORPHA:1724
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
Treacher Collins Syndrome 2	Retrognathia, Choanal atresia, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening, Mi...	OMIM:613717
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
46,Xy Sex Reversal 8	Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism	OMIM:614279
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Renotubular dysgenesis, Anuria, Abnormality of the urinary system	OMIM:267430
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Tented philtrum, Hypospadias, Gastroesophageal reflux, Hypoplastic labia...	ORPHA:495875
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Hypospadias, Polycystic kidney dysplasia, Hypoplastic nipples, High palate,...	OMIM:614866
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Renal insufficiency, Horseshoe kidney	ORPHA:140952
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Cry...	OMIM:227645
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Abdominal distention, Secretory diarrhea	OMIM:214700
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Long philtrum, High palate, Growth delay, Neonatal death, Exocrine pancreatic insufficiency, Intr...	OMIM:618500
Cowden Syndrome 1	Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, M...	OMIM:158350
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Apnea, Neonatal death, Tachy...	OMIM:610921
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Dyspnea, Respiratory distress	ORPHA:2759
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Respiratory distress	ORPHA:308552
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Severe intrauterine growth retardation, Corneal opacity, Intrauterine growth retard...	ORPHA:3455
Coffin-Siris Syndrome 12	Hypospadias, Gastroesophageal reflux, Low hanging columella, Anteverted nares, Prominent nasal ti...	OMIM:619325
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nephrotic syndrome, Membranous nephropathy, Tubulointerstitial nephritis, Respiratory distress	ORPHA:37042
Hypotonia, Ataxia, And Delayed Development Syndrome	Thick lower lip vermilion, Gastroesophageal reflux, Vesicoureteral reflux, Downturned corners of ...	OMIM:617330
X-Linked Intellectual Disability, Seemanova Type	Cryptorchidism, High palate, Hypogonadism	ORPHA:85323
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Jaundice, Esophageal varix, Cel...	ORPHA:186
Geroderma Osteodysplasticum	Premature skin wrinkling, Periodontitis, Mandibular prognathia, Abnormality of the dentition, Hyp...	OMIM:231070
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Thick lower lip vermilion, Parotitis, Death in adolescence, Short stat...	OMIM:256040
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Gastroesophageal reflux, Acrocyanosis	ORPHA:2032
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Anterior pituitary hypoplasia, Median cleft palate, Wide mouth, Hypop...	ORPHA:1827
Kagami-Ogata Syndrome	Retrognathia, Anteverted nares, Hypoplasia of the maxilla, Micrognathia, Long philtrum, Depressed...	OMIM:608149
Arterial Tortuosity Syndrome	Short nose, Abnormal zygomatic bone morphology, Gastroesophageal reflux, Keratoglobus, Prematurel...	ORPHA:3342
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Short nose, Posterior subcapsular cataract, Rhizomelia, Disproportionate short-limb short stature...	OMIM:271510
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	D-2-hydroxyglutaric aciduria, Unilateral renal agenesis, Respiratory distress	ORPHA:99646
Desmosterolosis	Short nose, Rhizomelia, Gingival fibromatosis, Anteverted nares, Micrognathia, Cleft palate, Hypo...	OMIM:602398
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Hemolytic-uremic syndrome, Respiratory distress, Methylmalonic aciduria, Renal in...	ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hypoplastic male external genitalia, Meningoencephalocele, Anal atresia,...	OMIM:236670
Lipodystrophy, Familial Partial, Type 7	Short nose, Polyuria, Decreased adipose tissue around neck, Diarrhea, Narrow nasal ridge, Narrow ...	OMIM:606721
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypospadias, Lacticaciduria, Death in infancy, Growth delay, Vomiting, 3-hydroxydicarboxylic acid...	OMIM:252010
Cornelia De Lange Syndrome 6	Long philtrum, Short nose, Hair-pulling, Gastroesophageal reflux, Anteverted nares, Compulsive be...	OMIM:620568
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short nose, Thick lower lip vermilion, Hypospadias, Short philtrum, Hyperactivity, Oligodontia, H...	OMIM:309590
Aymé-Gripp Syndrome	Postnatal growth retardation, Short nose, Oligodontia, Narrow mouth, Megalocornea, Cataract, Shor...	ORPHA:1272
Acute Lung Injury	Tachypnea, Dyspnea, Respiratory distress	ORPHA:178320
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge	OMIM:122880
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Gastroesophageal reflux, Anteverted nares, High palate, Hypoplasia of the maxilla,...	OMIM:182212
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia	OMIM:618087
Saethre-Chotzen Syndrome	Narrow palate, Open bite, Short stature, Hypoplasia of the maxilla, Cleft palate, Prominent nasal...	ORPHA:794
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress	ORPHA:1145
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum	ORPHA:1394
Diets-Jongmans Syndrome	Hypospadias, Wide mouth, Umbilical hernia, Cryptorchidism, Thin upper lip vermilion, Duodenal atr...	OMIM:618846
Dyggve-Melchior-Clausen Disease	Rhizomelia, Hyperactivity, Severe short stature, Recurrent upper respiratory tract infections, Di...	ORPHA:239
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Open bite, High palate, Everted lower lip vermilion, Short stature,...	ORPHA:1974
Sponastrime Dysplasia	Short nose, Rhizomelia, Hypospadias, Disproportionate short-limb short stature, Wide nose, Obtuse...	ORPHA:93357
Asbestos Intoxication	Hypoxemia, Cyanosis, Oxygen desaturation on exertion	ORPHA:2302
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Short lingual frenulum, High palate, Bifid uterus, Wide mouth, Abnormal rep...	ORPHA:1521
Ritscher-Schinzel Syndrome 2	Short philtrum, High palate, Protruding tongue, Intestinal malrotation, Pulmonary artery hypoplas...	OMIM:300963
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Respiratory distress	OMIM:123790
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Dyspnea, Respiratory distress	OMIM:211530
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Dyskeratosis Congenita, X-Linked	Hypospadias, Premature loss of teeth, Phimosis, Decreased testicular size, Carious teeth, Urethra...	OMIM:305000
Otopalatodigital Syndrome, Type Ii	Stillbirth, Hypospadias, Narrow mouth, Spina bifida, Hydronephrosis, Cleft palate, Umbilical hern...	OMIM:304120
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Tularemia	Respiratory distress	ORPHA:3392
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Short nose, Renal neoplasm, Anteverted nares, Microcornea, High pal...	ORPHA:536467
Pyknoachondrogenesis	Abdominal distention, Craniofacial hyperostosis, Depressed nasal ridge, Abnormality of mouth shape	ORPHA:3003
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Short stature, Thick vermilion border, Tented upper lip vermilion, Malar flattening, ...	OMIM:616723
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge	OMIM:611936
Pulmonary Non-Tuberculous Mycobacterial Infection	Dyspnea, Respiratory distress	ORPHA:411703
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Vaginal atresia	OMIM:248450
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Dend Syndrome	Short nose, Anteverted nares, Vomiting, Downturned corners of mouth, Long philtrum	ORPHA:79134
Acrofacial Dysostosis, Cincinnati Type	Gastrostomy tube feeding in infancy, Short nose, Retrognathia, Bilateral choanal atresia, Pterygi...	OMIM:616462
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Respiratory distress	ORPHA:264675
Jaberi-Elahi Syndrome	Cataract, Short nose, Depressed nasal bridge, Triangular mouth	OMIM:617988
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis	OMIM:250800
Branchiooculofacial Syndrome	Premature graying of hair, Malrotation of colon, Intrauterine growth retardation, Hypospadias, Ab...	OMIM:113620
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Gastroesophageal reflux, Self-mutilation, Prominent nasal tip, Vomiting, Feeding diff...	ORPHA:522077
Frontometaphyseal Dysplasia 2	Short philtrum, Gastroesophageal reflux, Neurogenic bladder, High palate, Pyloric stenosis, Bifid...	OMIM:617137
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Long nose, Retrognathia, Neoplasm of the tongue, Growth delay, Micrognathia, Bifid uvula, Severe ...	ORPHA:3047
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Pelvic kidney, Nasal flaring	ORPHA:466943
Hypothyroidism, Congenital, Nongoitrous, 2	Abdominal distention, Growth delay, Constipation, Umbilical hernia, Macroglossia, Feeding difficu...	OMIM:218700
Multicentric Osteolysis, Nodulosis, And Arthropathy	Narrow nasal bridge, Delayed eruption of teeth, Gingival overgrowth, Corneal opacity, Short statu...	OMIM:259600
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Bifid uvula, Dysphagia, Abnormality of the anus, Long philtrum, Aggressive behavi...	OMIM:607872
Mucolipidosis Type Ii	Postnatal growth retardation, Gastrostomy tube feeding in infancy, Gingival overgrowth, Short sta...	ORPHA:576
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Malar f...	OMIM:154500
Wolf-Hirschhorn Syndrome	Orofacial cleft, Hypospadias, Short philtrum, Gastroesophageal reflux, Hypodontia, Aplasia of the...	OMIM:194190
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Renal cyst, Bile duct proliferation, Death in infancy, Nephritis, Pulmonary hyp...	OMIM:208500
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Widely spaced teeth, Downturned corners of mouth, Chordee, Cryptorchidism, Supernumerary nipple, ...	OMIM:616728
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Hamartoma of tongue	ORPHA:1338
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Noonan Syndrome With Multiple Lentigines	Hypospadias, Spina bifida occulta, Abnormal localization of kidney, Abnormality of the pulmonary ...	ORPHA:500
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Deep philtrum	ORPHA:1237
Roberts Syndrome	Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, High palate, Cleft upper lip, Clef...	ORPHA:3103
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Encephalocele, Gastroesophageal reflux, Polycystic k...	OMIM:134780
Spondylodysplastic Ehlers-Danlos Syndrome	Short nose, Posterior subcapsular cataract, Abnormality of the temporomandibular joint, Anteverte...	ORPHA:536471
Anaplastic Thyroid Carcinoma	Dyspnea, Respiratory distress	ORPHA:142
Chromosome 16P13.3 Duplication Syndrome	Short nose, Wide nose, Anteverted nares, Microdontia, Attention deficit hyperactivity disorder, M...	OMIM:613458
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, High palate, Everted lower lip vermilion, Deep philtrum, Umbilical hernia, ...	OMIM:613884
Hartsfield Syndrome	Hypospadias, Gonadotropin deficiency, Cleft upper lip, Cleft palate, Cryptorchidism, Micropenis, ...	OMIM:615465
Thyroid Lymphoma	Dyspnea, Respiratory distress	ORPHA:97285
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Gastroesophageal reflux, Hypoplastic philtrum, Precocious puberty, Intestinal malrotation, Volvul...	OMIM:616682
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Long philtrum, Abnormal periodontium morphology, Tooth malposition, Cyst of the ductus choledochu...	ORPHA:480880
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Spina bifida occulta, Anterior pituitary hypoplasia, Abnormality of the dentition, E...	OMIM:151050
Q Fever	Hematuria, Respiratory distress	ORPHA:781
Osteogenesis Imperfecta, Type Vii	Hypoplastic pulmonary veins, Death in infancy, Hydronephrosis, Dentinogenesis imperfecta, Long ph...	OMIM:610682
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Protein-losing enteropathy, Gastrointestinal hemorrhage, Re...	ORPHA:731
Gitelman Syndrome	Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Respiratory distress, Foca...	ORPHA:358
X-Linked Intellectual Disability, Armfield Type	Galactosuria, Short philtrum, Organic aciduria, Downturned corners of mouth, Cleft palate, Wide m...	ORPHA:85276
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Biliary, Renal, Neurologic, And Skeletal Syndrome	Abdominal distention, Jaundice, Gastroesophageal reflux, Anteverted nares, Esophageal varix, Medu...	OMIM:619534
Heterotaxy, Visceral, 1, X-Linked	Renal agenesis, Enlarged kidney, Horseshoe kidney, Respiratory distress	OMIM:306955
Mesomelia-Synostoses Syndrome	Short umbilical cord, Hydronephrosis, Absent uvula	OMIM:600383
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Renal insufficiency, Renal cyst, Death in infancy	OMIM:617478
Staphylococcal Necrotizing Pneumonia	Tachypnea, Dyspnea, Respiratory distress	ORPHA:36238
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Abnormal intestine morphology, Microdontia, Abnormal oral frenulum mor...	ORPHA:286
Myhre Syndrome	Short philtrum, Mandibular prognathia, Narrow mouth, Cataract, Short stature, Hypoplasia of the m...	OMIM:139210
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal ethmoid bone morphology, Abnormal mandible condylar process morphology, Bladder divertic...	ORPHA:2976
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Wolf-Hirschhorn Syndrome	Abnormality of the kidney, Hypospadias, Short philtrum, Abnormal lip morphology, Abnormality of t...	ORPHA:280
Listeriosis	Acute kidney injury, Miscarriage, Pyelonephritis, Respiratory distress	ORPHA:533
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastrostomy tube feeding in infancy, Everted upper lip vermilion, Absent cupid's bow, Widely spac...	ORPHA:513456
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Aniridia, Mandibular prognathia, Corneal dystrophy, Megalocornea, Hypoplasia...	ORPHA:1101
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Abnormal palate morphology, Abnormality of canine, Widely spaced teeth, Hypospadias, Chordee, Cry...	ORPHA:477993
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Mend Syndrome	Cryptorchidism, High palate, Crossed fused renal ectopia, Smooth philtrum	OMIM:300960
Acute Interstitial Pneumonia	Hypoxemia, Cyanosis	ORPHA:79126
Classical Ehlers-Danlos Syndrome	Rectal prolapse, Abnormality of the temporomandibular joint, Gastroesophageal reflux, Prematurely...	ORPHA:287
Tolchin-Le Caignec Syndrome	Narrow mouth, High palate, Attention deficit hyperactivity disorder, Micrognathia, Umbilical hern...	OMIM:618971
Chitayat Syndrome	Respiratory distress	OMIM:617180
Craniolenticulosutural Dysplasia	Gastroesophageal reflux, Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of tee...	OMIM:607812
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Gastroesophageal reflux, Median cleft palate, Aplasia ...	OMIM:301043
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Short stature, Long philtrum, Hypoplasia of ...	OMIM:614800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Gastroesophageal reflux, Poor suck, Death in infancy, Vomiting, Feeding diffi...	OMIM:618426
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis	ORPHA:860
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Pulmonary Arteriovenous Malformation	Gastrointestinal infarctions, Hypoxemia, Epistaxis, Cyanosis, Telangiectasia	ORPHA:2038
Dominant Beta-Thalassemia	Delayed puberty, Hyperplasia of the maxilla, Jaundice, Diarrhea, Abnormality of the dentition, Gr...	ORPHA:231226
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis, Hepatic failure	ORPHA:49566
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Narrow palate, Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic ni...	OMIM:276820
Kbg Syndrome	Epispadias, Oligodontia, Tented upper lip vermilion, Long philtrum, Cryptorchidism, Macrodontia, ...	OMIM:148050
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Craniosynostosis With Fibular Aplasia	Cryptorchidism	OMIM:218550
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Cyanosis, Death in infancy	OMIM:265120
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short nose, Ossifying fibroma of the jaw, Abnormality of the dentition, Short stature, Tented upp...	ORPHA:457395
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Small pituitary gland, Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypo...	ORPHA:2232
Oculocerebrofacial Syndrome, Kaufman Type	Dyspnea, Respiratory distress	ORPHA:2707
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
N-Acetylglutamate Synthase Deficiency	Tachypnea, Respiratory distress	OMIM:237310
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Hypoxemia, Cyanosis	ORPHA:555874
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Hypoplastic facial bones, Dysphagia, Long philtrum, Intrauterine growth retar...	OMIM:264090
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Respiratory distress, Keratan sulfate excretion in urine, Chondroiti...	OMIM:615273
Neuroocular Syndrome	Retrognathia, Widely spaced teeth, Short uvula, Increased overbite, Microcornea, Stellate iris, A...	OMIM:619539
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Coccidioidomycosis	Abnormality of the bladder, Abnormality of the kidney, Renal insufficiency, Respiratory distress	ORPHA:228123
Shprintzen-Goldberg Syndrome	Retrognathia, High, narrow palate, Gastroesophageal reflux, Anteverted nares, Hypoplasia of the m...	ORPHA:2462
Postinfectious Vasculitis	Anorexia, Gastrointestinal inflammation, Palpable purpura, Hematuria, Abdominal pain, Vasculitis ...	ORPHA:48435
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Thin vermilion border, Hypospadias, Bifid scrotum, High palate, Total anomalous pulmonary venous ...	OMIM:609945
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
Adams-Oliver Syndrome 1	Encephalocele, Imperforate hymen, Pulmonary artery stenosis, Cleft upper lip, Cleft palate, Super...	OMIM:100300
Microphthalmia, Syndromic 3	Hypospadias, Esophageal atresia, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypog...	OMIM:206900
Myasthenia Gravis	Glycosuria, Dysphagia, Acrocyanosis	ORPHA:589
Pfeiffer Syndrome Type 1	Short nose, High palate, Depressed nasal bridge	ORPHA:93258
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Pseudoaminopterin Syndrome	Orofacial cleft, Short philtrum, High palate, Microdontia, Cryptorchidism, Horseshoe kidney	ORPHA:221120
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature	OMIM:618618
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Glycogen Storage Disease Due To Acid Maltase Deficiency	Orthopnea, Oligosacchariduria, Exertional dyspnea, Respiratory distress	ORPHA:365
Aspartylglucosaminuria	Short nose, Vascular skin abnormality, Gingival overgrowth, Mandibular prognathia, Abnormality of...	ORPHA:93
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Acromelic Frontonasal Dysostosis	Midline defect of the nose, Encephalocele, Midline facial cleft, Bifid nasal tip, Cleft upper lip...	OMIM:603671
Agnathia-Otocephaly Complex	Respiratory distress	OMIM:202650
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Adnp Syndrome	Recurrent urinary tract infections, Urinary incontinence, Respiratory distress	ORPHA:404448
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Kasabach-Merritt Phenomenon	Abdominal distention, Abdominal pain, Petechiae, Purpura	ORPHA:2330
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Tachypnea, Respiratory distress	OMIM:610978
Beta-Thalassemia Major	Delayed puberty, Hyperplasia of the maxilla, Jaundice, Diarrhea, Abnormality of the dentition, Gr...	ORPHA:231214
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Nasolacrimal Duct Cyst	Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions	ORPHA:141083
Craniofaciofrontodigital Syndrome	Dyspnea, Respiratory distress	ORPHA:363705
Criss-Cross Heart	Cyanosis, Feeding difficulties	ORPHA:1461
Kniest Dysplasia	Respiratory distress	OMIM:156550
Omodysplasia 1	Short nose, Axillary pterygium, Popliteal pterygium, Rhizomelia, Disproportionate short-limb shor...	OMIM:258315
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Cutis marmorata, Acr...	OMIM:259900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Emphysema, Pulmonary fibrosis	OMIM:620365
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Respiratory distress	ORPHA:98915
Distal Deletion 19P	Hypoplasia of the maxilla, Cleft palate, Short philtrum, Umbilical hernia	ORPHA:96129
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Tachypnea, Episodic tachypnea, Respiratory distress	ORPHA:26793
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Hypospadias, Respiratory distress, Dyspnea, Abnormal penis morphology	ORPHA:2556
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Gastrointestinal hemorrhage, Nail bed telangiectasia, Gastroi...	OMIM:187300
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Hypospadias, Gastroesophageal reflux, Narrow mouth, Everted lower lip vermilion, Decreased testic...	ORPHA:459070
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Fetal Akinesia Deformation Sequence 1	Short umbilical cord, High, narrow palate, Stillbirth, Small placenta, High palate, Narrow mouth,...	OMIM:208150
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties, Cyanosis	OMIM:617239
Unilateral Polymicrogyria	Nasogastric tube feeding, Cyanosis, Epistaxis, Pseudobulbar paralysis	ORPHA:268943
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress	ORPHA:367
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Rectal prolapse, Gastroesophageal reflux, Dental crowding, Gingival overgrow...	ORPHA:285
Congenital Tracheomalacia	Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Feeding difficulties, Rec...	ORPHA:95430
Saethre-Chotzen Syndrome	Narrow palate, Long nose, Buphthalmos, Short stature, Hypoplasia of the maxilla, Cleft of chin, C...	OMIM:101400
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Stillbirth, Hyperplasia of the maxilla, Hypospadias, Horseshoe kidn...	OMIM:268300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, High palate, Hydronephrosis, Thick vermilion...	ORPHA:363700
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Mogs-Cdg	Hypoventilation, Apnea, Respiratory distress	ORPHA:79330
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Ecchymosis, Epistaxis, Bruising susceptibility	OMIM:277450
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Renal cyst, Pulmonary hypoplasia, Hyperechogenic kidneys,...	OMIM:615636
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Disproportionate short-limb short stature, Mild short stature, Protuberant abdomen, D...	OMIM:618019
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, High, narrow palate, Renal hypoplasia/aplasia, Horseshoe kidney, E...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, High, narrow palate, Renal hypoplasia/aplasia, Horseshoe kidney, E...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, High, narrow palate, Renal hypoplasia/aplasia, Horseshoe kidney, E...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, High, narrow palate, Renal hypoplasia/aplasia, Horseshoe kidney, E...	ORPHA:881
Primrose Syndrome	Delayed puberty, Aggressive behavior, Increased size of the mandible, Anteverted nares, Short sta...	OMIM:259050
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Yunis-Varon Syndrome	Thin vermilion border, Clitoral hypertrophy, High, narrow palate, Broad secondary alveolar ridge,...	ORPHA:3472
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Oral cavity telangiectasia, Hematemesis, Nail bed telangiectasia, Gastroin...	OMIM:600376
Infantile Krabbe Disease	Respiratory distress	ORPHA:206436
Pulmonary Alveolar Microlithiasis	Hematuria, Hypoxemia, Calcium nephrolithiasis, Cyanosis, Oxygen desaturation on exertion	ORPHA:60025
Complete Atrioventricular Septal Defect	Cyanosis, Feeding difficulties	ORPHA:1329
Leptospirosis	Acute kidney injury, Cellular urinary casts, Respiratory distress	ORPHA:509
Cardiogenic Shock	Oliguria, Hypoxemia, Cyanosis	ORPHA:97292
Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Pulmonary artery dilatation	OMIM:613834
Tibial Hemimelia	Hypospadias, Myelomeningocele, Cleft palate, Ambiguous genitalia, Cryptorchidism	ORPHA:93322
Paternal Uniparental Disomy Of Chromosome 6	Gingival overgrowth, High palate, Precocious puberty, Umbilical hernia, Cryptorchidism, Labial hy...	ORPHA:96191
Opsismodysplasia	Short nose, Severe short stature, Depressed nasal bridge	ORPHA:2746
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Noonan Syndrome 3	Short nose, Anteverted nares, High palate, Short stature, Hypoplastic nasal bridge, Bruising susc...	OMIM:609942
Triosephosphate Isomerase Deficiency	Death in infancy, Death in adolescence, Respiratory distress	OMIM:615512
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, High palate, Hypoplasia of the uterus	OMIM:110100
Cardiomyopathy, Familial Hypertrophic, 4	Dyspnea, Respiratory distress	OMIM:115197
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Eisenmenger Syndrome	Abdominal distention, Hypoxemia, Cyanosis, Renal insufficiency	ORPHA:97214
Craniofacial Microsomia 1	Occipital encephalocele, Transverse facial cleft, Ectopic kidney, Branchial anomaly, Maxillozygom...	OMIM:164210
Japanese Encephalitis	Abnormal pattern of respiration, Irregular respiration, Respiratory distress	ORPHA:79139
Glycerol Kinase Deficiency	Downturned corners of mouth, Increased urinary glycerol, Cryptorchidism	OMIM:307030
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Death in childhood, Respiratory distress	OMIM:620278
Carpenter Syndrome 2	Narrow palate, High, narrow palate, Supernumerary nipple, Hypoplastic nipples, High palate, Bilat...	OMIM:614976
Achondroplasia	Death in infancy, Respiratory distress	OMIM:100800
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Wide nose, Delayed eruption of teeth, Dental crowding, Mandib...	OMIM:614188
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Renal Fanconi syndrome, Enam...	OMIM:309000
Farber Disease	Respiratory distress	ORPHA:333
Noonan Syndrome 1	High, narrow palate, Hypospadias, Chylothorax, High palate, Cleft palate, Hypogonadism, Dental ma...	OMIM:163950
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medullary nephrocalcinosis, Hyperphosphaturia, Nephrocalcinosis, Cortical n...	ORPHA:51608
Surfactant Metabolism Dysfunction, Pulmonary, 2	Tachypnea, Dyspnea, Respiratory distress	OMIM:610913
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Cyanosis	ORPHA:199241
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Aicardi-Goutières Syndrome	Developmental glaucoma, Short stature, Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis...	ORPHA:51
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Geleophysic Dysplasia 2	Short nose, Short stature, Smooth philtrum, Long philtrum, Thin upper lip vermilion	OMIM:614185
Geleophysic Dysplasia 1	Short nose, Anteverted nares, Short stature, Wide mouth, Smooth philtrum, Long philtrum, Wide nas...	OMIM:231050
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Loeys-Dietz Syndrome	Bifid uvula, Orofacial cleft, Uterine rupture, High palate	ORPHA:60030
Rodrigues Blindness	Nasal flaring	OMIM:268320
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short nose, Disproportionate short-limb short stature, High palate, Depressed nasal ridge, Microg...	OMIM:271665
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Aplastic zygomatic arch, Short upper lip, Abnormal nasal morphology, Wi...	OMIM:200110
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Cyanosis	OMIM:616749
Fibrous Dysplasia Of Bone	Abnormality of the sphenoid sinus, Abnormal facial skeleton morphology, Abnormal zygomatic bone m...	ORPHA:249
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Double Outlet Left Ventricle	Orofacial cleft, Cyanosis	ORPHA:3427
Waardenburg Syndrome, Type 4C	Cryptorchidism, Lacrimal gland hypoplasia, Aganglionic megacolon, Hypogonadism	OMIM:613266
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal mucosa telangi...	OMIM:610655
Goodpasture Syndrome	Glomerular crescent formation, Renal insufficiency, Proteinuria, Macroscopic hematuria, Cyanosis,...	OMIM:233450
Hereditary Angioedema Type 1	Dyspnea, Respiratory distress	ORPHA:100050
Poems Syndrome	Plethora, Acrocyanosis	ORPHA:2905
Faciocardiomelic Syndrome	Hyperplasia of the maxilla, Anteverted nares, Micrognathia, Wide mouth, Long philtrum, Dental mal...	OMIM:612731
Dermatomyositis	Facial erythema, V-sign, Cutaneous photosensitivity, Gastrointestinal stroma tumor, Shawl sign, T...	ORPHA:221
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Atrial Septal Defect, Ostium Primum Type	Cyanosis	ORPHA:99106
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Short philtrum, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism...	ORPHA:572333
Alpha-Thalassemia	Jaundice, Malar prominence, Hyperplasia of the maxilla	ORPHA:846
Cryptococcosis	Dyspnea, Respiratory distress	ORPHA:1546
Isolated Exencephaly	Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Depressed nasal bridge	ORPHA:563612
Absence Of The Pulmonary Artery	Growth delay, Cyanosis, Hypocapnia	ORPHA:980
Atrial Septal Defect, Coronary Sinus Type	Cyanosis	ORPHA:99104
Acromesomelic Dysplasia 1	Short nose, Disproportionate short-limb short stature	OMIM:602875
Atrial Septal Defect, Ostium Secundum Type	Cyanosis	ORPHA:99103
Aortic Arch Interruption	Cyanosis, Feeding difficulties in infancy	ORPHA:2299
Truncus Arteriosus	Intrauterine growth retardation, Cyanosis	ORPHA:3384
Oculopharyngodistal Myopathy 1	Respiratory distress	OMIM:164310
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Scimitar Syndrome	Respiratory distress	ORPHA:185
Norrie Disease	Thin vermilion border, Uterine rupture, Cryptorchidism	ORPHA:649
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Singleton-Merten Syndrome 1	Cutaneous photosensitivity, Hypoplasia of the tooth germ, Eruption failure, Short dental root, Sh...	OMIM:182250
Nocardiosis	Dyspnea, Respiratory distress	ORPHA:31204
Pmm2-Cdg	Abnormal renal tubule morphology, Respiratory distress, Nephrotic syndrome, Proteinuria, Multiple...	ORPHA:79318
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis	ORPHA:99050
Stüve-Wiedemann Syndrome	Apnea, Respiratory distress	ORPHA:3206
Alström Syndrome	Detrusor sphincter dyssynergia, Urinary incontinence, Respiratory distress, Recurrent urinary tra...	ORPHA:64
Holt-Oram Syndrome	Long philtrum, Micrognathia, Cleft soft palate	OMIM:142900
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Plague	Respiratory distress	ORPHA:707
Congenital Total Pulmonary Venous Return Anomaly	Poor suck, Cyanosis	ORPHA:99125
Spondyloepimetaphyseal Dysplasia, X-Linked	Disproportionate short-trunk short stature, Hypoplasia of the maxilla	OMIM:300106

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 Dlg1

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 Dlg1.

No publications found that use IMPC mice or data for Dlg1.

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
Dlg1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dlg1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dlg1^{tm39007(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dlg1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dlg1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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