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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 (2172 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		Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult...	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	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	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 ureter, Abnormality of the upper urinary tract	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
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Spinal dysraphism, ...	ORPHA:1926
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias, Respiratory insufficiency	ORPHA:2487
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas...	OMIM:146255
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina...	OMIM:158330
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C...	ORPHA:3027
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral re...	OMIM:617641
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
7P22.1 Microduplication Syndrome	Cryptorchidism, Abnormality of the kidney	ORPHA:314034
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism, Renal agenesis	OMIM:219050
Meier-Gorlin Syndrome 8	Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Thick vermilion border, Narr...	OMIM:617564
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder	ORPHA:2547
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia...	OMIM:271520
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection...	ORPHA:2970
Bardet-Biedl Syndrome 16	Respiratory distress, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R...	OMIM:270420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Rena...	ORPHA:85284
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, ...	ORPHA:2470
Macdermot-Winter Syndrome	Death in infancy, Hydronephrosis, Hypoplastic male external genitalia	OMIM:247990
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy...	ORPHA:1046
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina...	OMIM:616258
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,...	OMIM:614080
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis	OMIM:617516
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentitio...	ORPHA:96169
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage...	OMIM:613390
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P...	ORPHA:2869
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Short stature, Hypoplasia of the premaxilla, Unilateral renal agenesis, Ab...	ORPHA:2673
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Compul...	ORPHA:217340
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Feeding difficulties in infancy, Inflexible adherence to routines, Aggressive be...	OMIM:613670
Intestinal Dysmotility Syndrome	Projectile vomiting, Cataract, Abdominal distention, Diarrhea, Decreased intestinal transit time,...	OMIM:620045
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal...	OMIM:229850
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis	OMIM:615996
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Renal hypoplasia, Respiratory insufficiency	OMIM:276950
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Trichomegaly	Cataract	OMIM:190330
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Perching Syndrome	Cyanosis, Depressed nasal bridge, Feeding difficulties, High palate, Dysphagia	OMIM:617055
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cleft lip, Abnormality of the ...	ORPHA:1770
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Micropenis, Hypogonadism, Tooth ...	ORPHA:85274
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration, Ileitis, Oral ulcer	OMIM:618287
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Diphallia	Bifid scrotum, Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Abnor...	ORPHA:227
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Open mouth, Aplasia of the vagina, Unilateral renal agenesis	ORPHA:457284
Noonan Syndrome 4	Ureteral duplication, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion border, Hy...	OMIM:610733
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Anorectal anomaly, Abnormality of the ureter, Tracheoesophageal fistula...	ORPHA:1834
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Renal hypoplasia, Thin vermilion border, Long philtr...	ORPHA:171839
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Image Syndrome	Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis	ORPHA:85173
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Focal Dermal Hypoplasia	Ureteral duplication, Anteriorly placed anus, Oligodontia, Clitoral hypoplasia, Spina bifida occu...	OMIM:305600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Megacystis	ORPHA:2241
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasi...	OMIM:154230
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Flat...	OMIM:610828
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis	OMIM:263000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Unilateral renal agenesis, High, narrow palate, Cryptorchidism, Renal h...	OMIM:618494
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Knobloch Syndrome	Vesicoureteral reflux, Pyloric stenosis, Occipital encephalocele, Bifid ureter	ORPHA:1571
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp...	OMIM:614922
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Bardet-Biedl Syndrome 3	Renal hypoplasia	OMIM:600151
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Ureteral duplication, Endometrial carcinoma, High, narrow palate, Duplication of renal pelvis, Lo...	ORPHA:457212
Noonan Syndrome 9	Hydroureter	OMIM:616559
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Abnormality of the dentition, Cryptorchi...	ORPHA:85321
Orofaciodigital Syndrome Xvii	High, narrow palate, Micropenis, Median cleft lip, Renal hypoplasia	OMIM:617926
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Shawl scrotum	ORPHA:2256
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Intestinal malrota...	ORPHA:2166
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Cryptorchidism, Renal hypoplasia, Gingival overgrowth, Pseudohypoparathyroidism, Thin vermilion b...	ORPHA:464288
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia, Hypoperistalsis	OMIM:611376
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Abdominal distention, Depressed nasal ri...	OMIM:613885
Malaria	Respiratory distress, Acute kidney injury	ORPHA:673
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Rudiger Syndrome	Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Hadziselimovic Syndrome	Thick lower lip vermilion, Renal hypoplasia, High palate, Pulmonary artery atresia, U-Shaped uppe...	OMIM:612946
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Unilateral renal agenesis	ORPHA:52047
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, High palate, Dysphagia, Hydronephrosis	OMIM:618578
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood	OMIM:604273
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Depressed nasal bridge, Cleft upper lip, Hypoplasia ...	OMIM:610829
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Macroglossia, Thick vermilion border, Nephroblastoma, Bifid ureter...	OMIM:617107
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Na...	ORPHA:1307
Marden-Walker Syndrome	Hypospadias, High, narrow palate, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Cleft palat...	OMIM:248700
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition, Cryptorchid...	OMIM:615982
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor...	ORPHA:3411
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Even-Plus Syndrome	Recurrent urinary tract infections, Renal hypoplasia, High palate, Hypodontia, Vesicoureteral ref...	OMIM:616854
Microphthalmia With Limb Anomalies	Death in infancy, Short stature, Hypoplasia of the premaxilla, Macrodontia, Micrognathia, Hypopla...	ORPHA:1106
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure...	ORPHA:93929
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Cryptorchidism, Abnormality ...	ORPHA:3378
Coloboma Of Macula-Brachydactyly Type B Syndrome	Renal agenesis	ORPHA:1471
Mandibulofacial Dysostosis With Alopecia	Hydroureter	OMIM:616367
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp...	ORPHA:887
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Neonatal respiratory distress, Ketonuria, Renal hypoplasia	OMIM:619053
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Spina bifida occulta, Macroglossia, Thick vermil...	ORPHA:500095
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis	OMIM:618142
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Spina bifida occulta, Oc...	OMIM:267750
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Or...	OMIM:175200
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm...	OMIM:146510
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Short stature, Micrognathia, Growth delay, Gastroesophageal reflux, Narrow mout...	ORPHA:1495
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Microphthalmia, Syndromic 9	Renal malrotation, Pulmonary artery atresia, Cryptorchidism, Agenesis of pulmonary vessels, Renal...	OMIM:601186
Emanuel Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Dental crowding, Intestinal...	OMIM:609029
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Cryptorchidism, Meningocele, Abnormality of the ureter, Spina bifida occulta, Cleft ...	ORPHA:2311
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Agenesis of per...	OMIM:614091
Codas Syndrome	Hydroureter	ORPHA:1458
Trehalase Deficiency	Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short stature, Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral ...	ORPHA:1355
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Restrictive ve...	OMIM:614376
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni...	ORPHA:456328
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Hao-Fountain Syndrome	Cryptorchidism, Micropenis	OMIM:616863
3Q13 Microdeletion Syndrome	Cryptorchidism, Hypoplasia of penis, Abnormality of the urinary system, Long philtrum	ORPHA:1621
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Tooth agenesis, Multiple renal cysts, Ves...	ORPHA:1166
Diaphanospondylodysostosis	Respiratory distress, Multiple renal cysts	ORPHA:66637
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, R...	ORPHA:97362
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Congenital Absence Of Upper Arm And Forearm With Hand Present	Stillbirth, Renal agenesis	ORPHA:294975
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarbox...	OMIM:608836
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp...	ORPHA:83628
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Small Bowel Atresia	Intestinal hypoplasia, Short stature, Intestinal malrotation, Jejunal atresia, Abdominal distenti...	ORPHA:1201
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting	ORPHA:313906
Bowen-Conradi Syndrome	Cryptorchidism, Abnormal lung lobation, Orofacial cleft, Death in infancy	ORPHA:1270
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon...	ORPHA:2059
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Cryptorchidism, Renal hypoplasia, Downturned corners of mouth, Oligodontia, Narrow mouth	OMIM:616817
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Emanuel Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Dental crowding, Unilateral renal ag...	ORPHA:96170
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, High palate, Umbilical hernia, Ureteral triplication, Hydronephrosis	OMIM:104350
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia	ORPHA:2123
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Renal hypoplasia, Cle...	OMIM:616300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreat...	ORPHA:564
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Cryptorchidism, Abnormality of the ureter, Hypo...	ORPHA:3409
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi...	ORPHA:2237
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Orofacial cleft, Aplasia of the vagina, Smooth philtrum	OMIM:193500
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Cach Syndrome	Premature ovarian insufficiency, Renal hypoplasia, Primary amenorrhea, Secondary amenorrhea, Gona...	ORPHA:135
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Widely spaced teeth, Hydron...	OMIM:619797
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Abnormality of the...	ORPHA:2315
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbilical hernia	ORPHA:95719
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Short philtrum, Abnor...	ORPHA:247768
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
Hogue-Janssen Syndrome 2	Unilateral renal agenesis	OMIM:616362
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Cleft lip, Recurrent upper respiratory tra...	OMIM:616784
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Short stature, Anteverted nares, Renal agenesis, Broad ...	OMIM:615583
Ulnar-Mammary Syndrome	Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Decreased fertility, Ect...	ORPHA:3138
Familial Visceral Myopathy	Vesicoureteral reflux, Hydroureter, Megacystis	ORPHA:2604
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Abnormal renal corticomedullary differentiation, Respiratory distress	OMIM:616733
16P11.2P12.2 Microduplication Syndrome	Hypospadias, Cleft palate	ORPHA:261204
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Bicornuate uter...	OMIM:264480
Isolated Atp Synthase Deficiency	Respiratory distress, 3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Clitoral hypertrophy, Periphera...	OMIM:300707
Achondrogenesis Type 1A	Severe short stature, Anteverted nares, Micrognathia, Abdominal distention, Long philtrum, Umbili...	ORPHA:93299
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult...	ORPHA:199306
Adams-Oliver Syndrome 6	Renal hypoplasia	OMIM:616589
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormal re...	ORPHA:1666
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias	OMIM:300934
Intellectual Disability, Wolff Type	Hypospadias, Cryptorchidism, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, A...	ORPHA:3080
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal...	OMIM:300048
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Micrognathia, Abnormality of the urinary system, High pala...	ORPHA:1695
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Short stature, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Rob...	OMIM:613604
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis	OMIM:619887
Peters Plus Syndrome	Ureteral duplication, Clitoral hypoplasia, Abnormal pulmonary vein morphology, Widely spaced teet...	ORPHA:709
Qazi-Markouizos Syndrome	Prominent nasal bridge, Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic c...	ORPHA:3010
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur...	ORPHA:37202
Congenital Myopathy 17	Tented upper lip vermilion, Respiratory tract infection, Dental malocclusion, Renal hypoplasia, C...	OMIM:618975
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Pierpont Syndrome	Wide nose, Short stature, Broad nasal tip, Short nose, Feeding difficulties, Broad philtrum, Prom...	OMIM:602342
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Abnormality of the ureter, High palate	ORPHA:1035
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth...	OMIM:122470
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Pu...	OMIM:191830
Adiposis Dolorosa	Abdominal distention, Constipation, Painful subcutaneous lipomas	OMIM:103200
Restrictive Dermopathy 2	Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas...	OMIM:619793
Coloboma Of Macula With Type B Brachydactyly	Renal agenesis	OMIM:120400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Death in infancy, Spina bifida, Pancreatic cysts, Dilata...	OMIM:274000
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Isolated Hemihyperplasia	Cryptorchidism, Nephroblastoma, Myelomeningocele, Abnormality of the dentition	ORPHA:2128
Microphthalmia, Syndromic 12	Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornuate uterus, Pulmonary hypoplasia, Ne...	OMIM:615524
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Dental crowding, Abnormal lung lobation, Orofacial cleft, Ure...	ORPHA:2052
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Renal hypoplasi...	OMIM:603467
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Nager Syndrome	Respiratory insufficiency, Unilateral renal agenesis	ORPHA:245
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Renal hypopla...	OMIM:617595
Athyreosis	Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation	ORPHA:95713
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,...	ORPHA:261344
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Renal hypoplasia, Renal cyst, Dysphagia, Vesico...	OMIM:618460
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na...	ORPHA:1248
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism, Abnormal palate morphology	ORPHA:2022
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Renal hypoplasia/aplasia, Cryptorchidism,...	ORPHA:2863
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Aminoaciduria, Proximal tubulopathy	OMIM:612075
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Apnea	OMIM:615228
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Abnormal dental morphology, Hypospadias	ORPHA:2522
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Renal cyst	OMIM:174050
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis	OMIM:614576
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ...	ORPHA:103907
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Anal atresia, Horseshoe kidney	OMIM:619318
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia, Renal hypoplasia/aplasia	OMIM:267400
Fanconi Anemia, Complementation Group W	Renal hypoplasia	OMIM:617784
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst	OMIM:605231
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Slender nose, Micrognathia, Postnatal growth retardation, Feeding diffi...	OMIM:615419
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Micropenis, Bifid...	ORPHA:672
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Umbilical hernia, Hypoplastic labia majora, Hydronephrosis	OMIM:619217
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Abnorma...	ORPHA:2412
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Cryptorchidism, Cleft palate, Wide mouth, Ectopic anus, High pa...	ORPHA:1703
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Juvenile cataract, Short stature, Depressed nasal bridge, Growth delay,...	ORPHA:438178
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Encephalopathy Due To Sulfite Oxidase Deficiency	Nausea and vomiting, Ectopia lentis, Feeding difficulties in infancy, Aminoaciduria, Thick vermil...	ORPHA:833
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Organic aciduria	OMIM:614741
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Cryptorchidism, Thick lower lip vermi...	OMIM:618950
Cataract 47	Microcornea, Cataract	OMIM:612018
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
14Q11.2 Microdeletion Syndrome	Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Deep philtrum, High palate, Everte...	ORPHA:261120
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality...	ORPHA:289
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology,...	ORPHA:1655
Neuralgic Amyotrophy	Acrocyanosis, Short stature, Cleft palate, Narrow mouth	ORPHA:2901
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Aplas...	ORPHA:1027
Chung-Jansen Syndrome	Anteverted nares, Impulsivity, Micrognathia, Aggressive behavior, Feeding difficulties, Thin verm...	OMIM:617991
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal lung lobation, Horseshoe kidney, ...	ORPHA:3097
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine	ORPHA:26792
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hypospadias, Gastroesophageal reflux	ORPHA:250994
Joubert Syndrome 37	Cryptorchidism, Hydronephrosis, High palate, Micropenis, Decreased testicular size	OMIM:619185
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Restrictive ventil...	OMIM:616414
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermilion...	OMIM:179613
Mehmo Syndrome	Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Downturned corners of mouth, Th...	ORPHA:85282
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Abnormality of the anterior pituitary, Renal hypoplasia, Posterior pit...	ORPHA:75389
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Respiratory insufficiency due to muscle weakness, Death in infancy, Organic aciduria, Neonatal death	OMIM:617184
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Small scrotum, Supernumerary nipple, Cleft lip, Cryptorchidism, Renal h...	OMIM:618454
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Anteverted nares, Micrognathia, Protuberant abdomen, Umbilical hernia, Ne...	OMIM:618272
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Small scrotum, Abnormal dental morphology, Abnormal dental enam...	ORPHA:3253
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Anenceph...	OMIM:269860
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Genitopalatocardiac Syndrome	Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Gonadal dysgenesis, male	OMIM:231060
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatoblastoma, Cryptorchidism, Large placenta, Abnormal pancreas morpholog...	ORPHA:116
Desmoid Tumor	Intestinal polyposis, Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Acrocephalopolydactyly	Short nose, Abnormal renal morphology, Depressed nasal ridge, Protuberant abdomen	ORPHA:221054
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Astig...	OMIM:614753
Fanconi Anemia, Complementation Group I	Vesicoureteral reflux, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney	OMIM:609053
Trisomy 20P	Smooth philtrum, Macroorchidism, Hypospadias, Abnormality of the kidney, Spina bifida, Abnormalit...	ORPHA:261318
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Craniosynostosis, Herrmann-Opitz Type	Short stature, Abnormality of the upper urinary tract, Micrognathia, Abnormality of the urethra, ...	ORPHA:2145
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Severe short stature, Death in childhood	OMIM:302000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Corneal opacity, Thin vermilion border, Narrow mouth, Intrauterine growth retardat...	ORPHA:2370
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Ureteral duplication, Recurrent respiratory infections, Accessory oral frenulum,...	OMIM:266920
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ...	ORPHA:79409
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Bifid uvula	OMIM:617660
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Micropenis, Death in childhood	OMIM:615597
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Depressed nasal bridge, Broad n...	OMIM:619736
Schimke Immuno-Osseous Dysplasia	Short stature, Proteinuria, Depressed nasal bridge, Minimal change glomerulonephritis, Broad nasa...	ORPHA:1830
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Ant...	OMIM:261540
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Anal atresia, Abnormal palate morphology	ORPHA:1381
Immunoneurologic Disorder, X-Linked	Neonatal death, Functional abnormality of the bladder	OMIM:300076
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned corners of m...	ORPHA:531151
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, F...	OMIM:614744
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Esophageal atresia, Ventral shortening of foreskin, Cryptorchidism, Cleft palate, ...	ORPHA:95706
Meacham Syndrome	Death in infancy, Congenital alveolar dysplasia, Septate vagina, Male pseudohermaphroditism, Part...	OMIM:608978
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, F...	OMIM:613544
Trisomy 4P	Smooth philtrum, Hypospadias, Abnormality of the dentition, Carious teeth, Cryptorchidism, Abnorm...	ORPHA:1738
Currarino Syndrome	Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Sept...	OMIM:176450
Carpenter Syndrome 1	Hydroureter, Hydronephrosis	OMIM:201000
Tetraploidy	Renal hypoplasia/aplasia, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Hydronep...	ORPHA:3305
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Restlessness, Cataract, Feeding difficulties in infancy, Short nose	OMIM:618379
Diaphanospondylodysostosis	Nephrogenic rest, Depressed nasal bridge, Micrognathia, Disproportionate short-trunk short statur...	OMIM:608022
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp...	OMIM:614083
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Hydronephrosis	OMIM:607598
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cryptorchidi...	ORPHA:3363
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Toluene Embryopathy	Cryptorchidism, Abnormal localization of kidney, Thin vermilion border, Hydronephrosis, Smooth ph...	ORPHA:1920
Perlman Syndrome	Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, High, narrow palate, Short n...	ORPHA:2849
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Median cleft lip, Short stature, Depressed nasal bridg...	OMIM:241800
Tonne-Kalscheuer Syndrome	Short stature, Hypospadias, Prominent nasal bridge, Micrognathia, Prominent nose, Narrow mouth, V...	OMIM:300978
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Micrognathia, Abdominal distention, Alveolar ridge ov...	OMIM:235255
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Intellectual Developmental Disorder, X-Linked 103	Wide mouth, Bilateral cryptorchidism, Micropenis	OMIM:300982
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth, Umbilical hernia, Malar flattening, Neonatal short-limb short s...	OMIM:600972
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,...	ORPHA:819
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobati...	OMIM:270400
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycystic ovaries, Ect...	ORPHA:1580
Clark-Baraitser Syndrome	Thin upper lip vermilion, Hyperactivity, Exaggerated cupid's bow, Anteverted nares, Depressed nas...	OMIM:617752
Chand Syndrome	Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morph...	ORPHA:1401
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis	OMIM:264600
Oliver-Mcfarlane Syndrome	Cryptorchidism, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth ...	OMIM:275400
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Frontometaphyseal Dysplasia 1	Stridor, Hydroureter, Hydronephrosis	OMIM:305620
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Orofacial cleft, Cleft palate, Wide mouth...	ORPHA:261290
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec...	ORPHA:49041
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ...	ORPHA:90797
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Lowry-Maclean Syndrome	Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia...	ORPHA:2409
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Hypospadias, Submucous cleft hard palate, Hydropic placenta, S...	OMIM:275210
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrow...	ORPHA:1839
12Q14 Microdeletion Syndrome	Intestinal malrotation, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Downturned corners of...	ORPHA:94063
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, Cry...	ORPHA:912
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Protein-los...	OMIM:608104
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Spina bifida, Cryptorchidism, Abnormal lung lobation...	ORPHA:99776
Acrofacial Dysostosis, Catania Type	Carious teeth, Cryptorchidism, Spina bifida occulta, Hypospadias	OMIM:101805
Baker-Gordon Syndrome	Thin upper lip vermilion, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux,...	OMIM:618218
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism...	OMIM:300219
Raine Syndrome	Neonatal death, Death in infancy, Hydroureter, Hydronephrosis	OMIM:259775
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Respiratory distress	ORPHA:289916
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsor...	ORPHA:92050
Shashi-Pena Syndrome	Unilateral renal agenesis	OMIM:617190
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Abnormal lung lobation, Orofacial cleft, Aplasia/Hy...	ORPHA:3301
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe...	ORPHA:314588
Van Maldergem Syndrome 2	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Hypospadias, Cryptorchidism, Dent...	OMIM:615546
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Urinary bladder inflammation, Hematuria, Aplasia of the blad...	ORPHA:79403
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Short stature, Hypospadias, Anteverted nares, Micrognathia, ...	OMIM:613026
Recon Progeroid Syndrome	Prominence of the premaxilla, Short stature, Dental crowding, Anteverted nares, Narrow nasal ridg...	OMIM:620370
Intellectual Developmental Disorder, X-Linked 91	High palate, Short nose, Macrodontia	OMIM:300577
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose, Feeding difficulties	OMIM:617507
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Cleft upper lip	ORPHA:3316
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Cleft palate, Downturned corner...	ORPHA:457193
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Narrow palate, Micropenis, Short upper lip, Thick vermilion border, Short philtru...	ORPHA:364028
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Renal hypopl...	OMIM:619758
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr...	OMIM:602418
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:604292
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Short stature, Abnormality of the kidney, Abdominal distention, Growth delay, Delaye...	ORPHA:369
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition...	OMIM:619445
Frontonasal Dysplasia 1	Median cleft lip, Cataract, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplas...	OMIM:136760
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroeso...	ORPHA:85201
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pleural lymphangiectasia, Ectopic kidney, Cryptorchidism, Rectal prola...	OMIM:235510
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Intestinal malrotation, Ectopic kidney, Cryptorchidism, Long philtrum, ...	ORPHA:401935
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch...	OMIM:140000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnorma...	ORPHA:847
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Anteverted nares, Feeding difficulties, Wide mouth, Delayed eruption of ...	OMIM:618506
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Cons...	ORPHA:226313
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Bilateral renal agenesis, Stil...	OMIM:617667
Ohdo Syndrome	Short stature, Proteinuria, Anteverted nares, Micrognathia, Feeding difficulties in infancy, Depr...	OMIM:249620
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Abnormality of the kidney, Broad nasal tip, Repetitive compulsive behavior...	ORPHA:391372
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of...	ORPHA:139466
Abruzzo-Erickson Syndrome	Hypospadias, Cleft palate	OMIM:302905
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short stature, Hypospadias, Cleft soft palate, Micrognathia, Anteverted nares, Wide nasal bridge,...	ORPHA:2282
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia	OMIM:618914
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Cleft palate, Hydronephrosis,...	OMIM:220210
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Primary amenorrhea, High palate, Small ...	OMIM:612702
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding, ...	ORPHA:284417
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Cryptorchidism, Hypoplasia of penis, Small scrotum, Hydronephrosis	ORPHA:2083
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Kleefstra Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Tented upper li...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Hyperactivity, Restlessness, Short stature, Anteverted nares, Prominent...	OMIM:300558
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Short stature, Dental crowding, Cleft soft palate, Micrognathia, Abnorm...	OMIM:616331
Gordon Syndrome	Cryptorchidism, High palate, Cleft palate	ORPHA:376
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Dental crowding, Hypospadias, Cleft upper lip...	OMIM:219000
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, High...	OMIM:616449
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Pulmonary hypoplasia, Neonatal d...	OMIM:314390
Short Stature, Microcephaly, And Endocrine Dysfunction	Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney	OMIM:616541
Phakomatosis Pigmentokeratotica	Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral r...	ORPHA:2874
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Intestinal malrotation, Partial...	OMIM:270100
Vici Syndrome	Renal tubular acidosis, Ureteral atresia, Death in infancy	ORPHA:1493
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Urinary incontinence, Long nose, Self-biting, ...	OMIM:300912
Fg Syndrome 5	Anteverted nares, Hypospadias, Depressed nasal bridge, Diastema, Chronic constipation, Long philt...	OMIM:300581
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Short stature, Anteverted nares, Depressed nasal br...	OMIM:615866
Abruzzo-Erickson Syndrome	Hypospadias, Coronal hypospadias, Cryptorchidism, Abnormal localization of kidney, Cleft palate, ...	ORPHA:921
Silver-Russell Syndrome	Abnormality of male external genitalia, Dental crowding, Hypospadias, Precocious puberty, Cryptor...	ORPHA:813
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Chronic k...	ORPHA:330015
Opitz Gbbb Syndrome	Bifid scrotum, High palate, Vesicoureteral reflux, Recurrent aspiration pneumonia, Enlarged ovari...	ORPHA:2745
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size, Orofacial cleft, Cleft upper lip	ORPHA:85287
3C Syndrome	Death in infancy, Hypoplasia of penis, Recurrent respiratory infections, Hypospadias, Intestinal ...	ORPHA:7
Restrictive Dermopathy	Natal tooth, Ureteral duplication, Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, ...	ORPHA:1662
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Vaginal neoplasm, Esophageal neoplasm, Papillary renal cell carcinoma type 2, ...	ORPHA:523
Pallister-Killian Syndrome	Tented upper lip vermilion, Small scrotum, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypos...	OMIM:601803
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Hypospadias, Dental malocclusion, Renal hypoplas...	OMIM:601390
22Q11.2 Duplication Syndrome	Urethral stenosis, Cleft palate, Displacement of the urethral meatus, Hydronephrosis, Smooth phil...	ORPHA:1727
Intellectual Disability-Strabismus Syndrome	Micrognathia, Prominent nose, Gastroesophageal reflux, High palate, Micropenis, Hyperactivity, Sh...	ORPHA:363528
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C...	ORPHA:2510
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Hyperactivity, Hypospadias, Anteverted nares, Depressed nasal bridge, Blue...	OMIM:614613
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Nausea, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behav...	ORPHA:100924
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Cryptorchidism, Recurrent respiratory infections	OMIM:615633
Stt3B-Cdg	Respiratory distress, Micropenis	ORPHA:370924
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Fe...	OMIM:620292
Coffin-Siris Syndrome 1	Conical tooth, Ectopic kidney, Short philtrum, High palate, Microdontia, Spina bifida occulta, Hy...	OMIM:135900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Cryptorchidism,...	ORPHA:93271
Chromosome 2P16.1-P15 Deletion Syndrome	Decreased testicular size, Thin upper lip vermilion, High, narrow palate, Cryptorchidism, Recurre...	OMIM:612513
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Cleft palate, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased te...	OMIM:614880
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Downturned corners of...	OMIM:156200
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Retinitis Pigmentosa 59	Cryptorchidism, Renal insufficiency, Micropenis	OMIM:613861
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria	OMIM:606824
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose,...	ORPHA:1200
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Feeding difficulties, Downturned c...	OMIM:617865
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Cryptorchidism, Orofacial cleft, Horseshoe kidney, Wide mouth, Widely-spaced maxillary central in...	ORPHA:502434
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Short stature, Anteverted nares, Depressed nasal bridge, Spina bifida, Ope...	ORPHA:1327
Intellectual Developmental Disorder, X-Linked 106	Thin upper lip vermilion, Hypospadias, Cryptorchidism, Thick vermilion border, Open mouth, Decrea...	OMIM:300997
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Severe short stature, Short stature, Abdominal distention, Disproportionate sho...	OMIM:277300
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pala...	OMIM:115470
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Perianal abscess, Cryptorchidism, Wide mouth, Long philtrum, Micropenis...	OMIM:614684
Alagille Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Short ph...	ORPHA:52
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Narrow palate, Aplasi...	OMIM:200980
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno...	ORPHA:1848
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, High, narrow palate, Bulbous nose, Wide mouth, Chronic constipation, ...	ORPHA:485405
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Orofaciodigital Syndrome Xix	Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Carious ...	OMIM:620107
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Renal hypoplasia, Downturned corners of mouth, Hypopla...	OMIM:619321
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
White-Kernohan Syndrome	Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Long philtrum, Short nose, Delayed puberty	ORPHA:2598
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete...	ORPHA:280633
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m...	ORPHA:95427
Distal Duplication 18Q	Hypoplasia of penis, Abnormal dental morphology, Anteverted nares, Choanal atresia, Micrognathia,...	ORPHA:1716
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Intestinal malrotation, Pulmonary artery stenosis, Glyc...	OMIM:600001
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Cleft palate, Pleural effusion, Unilateral cleft lip, Pulmonary hypoplasia, Micropen...	OMIM:616897
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Restlessness, Hyperactivity, Short stature, Depressed nasal bridge, Aggres...	ORPHA:369891
Duane-Radial Ray Syndrome	Renal malrotation, Anal stenosis, Aganglionic megacolon, Renal agenesis, Renal hypoplasia, Horses...	OMIM:607323
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin...	ORPHA:298
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Death in infancy, Micrognathia, Feeding difficulties, High palate, Shor...	OMIM:615042
Chronic Mucocutaneous Candidiasis	Dyspareunia, Recurrent urinary tract infections, Recurrent respiratory infections, Abnormal denta...	ORPHA:1334
Wagr Syndrome	Ambiguous genitalia, Displacement of the urethral meatus, Everted lower lip vermilion, Cryptorchi...	ORPHA:893
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Compulsive behaviors, Ab...	OMIM:617061
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Wide mouth, St...	OMIM:243605
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Anteverted nares, Depressed n...	OMIM:614105
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Wide mouth, High...	OMIM:300661
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Feeding difficulties	OMIM:610992
Axenfeld-Rieger Syndrome	Anal stenosis, Posterior embryotoxon, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxi...	ORPHA:782
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose	ORPHA:90653
Proximal Xq28 Duplication Syndrome	Cryptorchidism, Tented upper lip vermilion, Everted lower lip vermilion, Hypospadias	ORPHA:1762
Camptobrachydactyly	Urinary incontinence, Septate vagina	OMIM:114150
Acrofacial Dysostosis, Catania Type	Microretrognathia, Short stature, Hypospadias, Abnormality of the dentition, Feeding difficulties...	ORPHA:1786
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Neu-Laxova Syndrome 2	Cataract, Spina bifida, Micrognathia, Depressed nasal ridge, Cleft palate, High palate, Protubera...	OMIM:616038
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima...	OMIM:231680
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Renal insufficiency	ORPHA:79312
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia	OMIM:612918
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Cleft upper lip, Postnatal gro...	OMIM:265050
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive...	ORPHA:432
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Glandular hypospadias, Cleft palate, Glo...	ORPHA:1358
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Hypospadias, Renal hypoplasia, Anteriorly placed anus, Narrow...	ORPHA:314679
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Cryptorchidism, Gastrointestinal dysmotility, Cleft pa...	ORPHA:453499
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Cornelia De Lange Syndrome 5	Cryptorchidism, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Wi...	OMIM:300882
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, High palate, Short philtrum, Shawl scrotum, Micropenis, Decreased testicular size	OMIM:615433
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Death in infancy, Hypoplasia of penis, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Am...	ORPHA:168593
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Aredyld Syndrome	Abnormal dental enamel morphology, Abnormality of the ureter, Narrow mouth, Advanced eruption of ...	ORPHA:1133
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis	OMIM:619194
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Prominent nose, Wide nasal bridge, Growth delay, Ren...	OMIM:614886
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Depressed nasal bridge, Diarrhea, Recurrent upper respiratory tract infections,...	OMIM:614069
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Pulmonary artery atresia, Cryptorchidism, Megarectum, ...	OMIM:301056
Takenouchi-Kosaki Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, High palate, Narrow mouth, Short nose	ORPHA:217385
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Fetal Trimethadione Syndrome	Depressed nasal bridge, Hypospadias, Micrognathia, High palate, Intrauterine growth retardation, ...	ORPHA:1913
Otodental Syndrome	Delayed eruption of teeth, Cataract, Anteverted nares, Abnormal dental enamel morphology, Agenesi...	ORPHA:2791
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Short stature, Exaggerated cupid's bow, Depressed nasal bridge, Micro...	OMIM:619833
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Cataract, Intestinal malrotation, Prominent nasal bridge, Abnormality ...	ORPHA:2712
Platyspondylic Dysplasia, Torrance Type	Depressed nasal bridge, Abdominal distention, Cleft palate, Disproportionate short-limb short sta...	ORPHA:85166
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Unilateral renal agenesis	OMIM:620024
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Micropenis, Hypoplasia of the prostate	OMIM:301900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Clef...	OMIM:106260
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Micropenis, Hypospadias, Death in infancy	OMIM:618815
Spinal Muscular Atrophy, X-Linked 2	Cryptorchidism, Micropenis, Hypospadias, Tongue fasciculations	OMIM:301830
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short stature, Anteverted nares, Cleft upper lip, Hypoplasia of the ma...	ORPHA:915
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis	OMIM:620141
Arthrogryposis, Distal, Type 1C	Pursed lips, Cleft lip, Cryptorchidism, Cleft palate, Thin vermilion border, High palate, Narrow ...	OMIM:619110
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Abnormal lung lobation, Neonatal death, Hypospadias, Esophageal atresia, Cleft lip, Pulmonary art...	OMIM:265380
Congenital Heart Defects And Skeletal Malformations Syndrome	Anal atresia, Short stature, Hypospadias, Dental crowding, Intestinal malrotation, Carious teeth,...	OMIM:617602
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Gastroesophageal reflux, Abnormality of the kidney, Long philtrum	ORPHA:466926
Seckel Syndrome 5	Hypospadias, Selective tooth agenesis, Cryptorchidism, Cleft palate, Oligodontia, High palate, Hy...	OMIM:613823
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Myelomeningocele, Pierre-Robin sequence, Cleft palate, Hydronephrosis...	ORPHA:90652
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Vomiting, Gastroesophageal reflux, High palate, Choanal stenosis, ...	OMIM:615485
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Depressed nasal bridge, Bulbous nose, Disproportionate short-tr...	OMIM:242900
Odontochondrodysplasia 1	Respiratory distress, Death in infancy, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Ambiguous genitalia, female, Lobulated tong...	OMIM:249000
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Abnormal dental m...	ORPHA:2322
Proximal Myotonic Myopathy	Cataract	ORPHA:606
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Thick nasal alae, Micrognathia, Feeding difficulties, Dysphagia, Short nose,...	ORPHA:163961
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Decreased testicular size	OMIM:614838
Netherton Syndrome	Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis	ORPHA:634
Baller-Gerold Syndrome	Malabsorption, Abnormality of the ureter, Cleft palate, Abnormal localization of kidney, Anterior...	ORPHA:1225
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter	OMIM:610759
Tetraamelia Syndrome 1	Renal agenesis, Hypoplasia of the fallopian tube, Cleft upper lip, Absent external genitalia, Per...	OMIM:273395
Opitz Gbbb Syndrome	Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, Cryptorchidism, Ve...	OMIM:300000
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Hyperactivity, Short stature, Anteverted nares, Long nose, Bulbous nose, Orofa...	ORPHA:261211
Miller-Dieker Syndrome	Anteverted nares, Growth delay, Abnormal upper lip morphology, Nephropathy, Short nose	ORPHA:531
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Rauch-Steindl Syndrome	Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage	OMIM:619695
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Cleft palate, Renal hypoplasia/aplasia	ORPHA:971
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, 3-Methylglutaric aciduria	OMIM:250951
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behavior, Prolonged ...	OMIM:618828
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Microp...	OMIM:601224
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m...	ORPHA:1552
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Thin vermilion border, Hypogonadism, Decreased testicular size	ORPHA:261483
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Short philtrum, Abnormality of the uterus, Hypoplasia ...	ORPHA:567
Frontofacionasal Dysplasia	Encephalocele, Cataract, Short stature, Depressed nasal bridge, Choanal atresia, Bifid nasal tip,...	ORPHA:1791
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Alazami-Yuan Syndrome	Thin upper lip vermilion, Dental crowding, Narrow mouth, Cryptorchidism, High palate, Long philtrum	OMIM:617126
Femoral-Facial Syndrome	Thin upper lip vermilion, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Oro...	ORPHA:1988
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Wide mouth, Micropenis, Hyd...	OMIM:617798
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Feeding difficulties, Downtur...	OMIM:613443
Fetal Akinesia Deformation Sequence 4	Neonatal death, Cryptorchidism, High palate, Prenatal death	OMIM:618393
Primary Pulmonary Hypoplasia	Cyanosis, Ureteral stenosis, Micrognathia, Cleft palate, Hypoxemia, Intrauterine growth retardation	ORPHA:2257
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short stature, Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss o...	OMIM:156510
Marshall Syndrome	Cataract, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of th...	ORPHA:560
Coffin-Siris Syndrome 11	Depressed nasal bridge, Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, B...	OMIM:618779
Sotos Syndrome	Ureteral duplication, No permanent dentition, Gastroesophageal reflux, Vesicoureteral reflux, Hyp...	ORPHA:821
Chromosome 15Q26-Qter Deletion Syndrome	Cryptorchidism, Micropenis, Hypospadias	OMIM:612626
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Pancreatic cysts, Ureteral atre...	OMIM:208540
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Cyanosis, Anteverted nares, Micrognathia, Abdominal d...	OMIM:619879
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal ala...	OMIM:619005
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Thick nasal alae, Cleft soft palate, Abnormal preputium morphology, Prominent nose, Bulbous nose,...	ORPHA:293725
Donohue Syndrome	Postnatal growth retardation, Abdominal distention, Long penis, Thick lower lip vermilion, Gingiv...	OMIM:246200
Musculocontractural Ehlers-Danlos Syndrome	Thin upper lip vermilion, Cleft lip, Cryptorchidism, Malrotation of small bowel, Functional abnor...	ORPHA:2953
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Cl...	OMIM:617925
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Non-midline cleft lip, Abnormality of the parathyroid gland, Abnormal localizatio...	ORPHA:3429
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Recurrent urinary tract infections, Hypospadias, Depressed nasal bridge, B...	OMIM:619103
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, R...	OMIM:107480
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short stature, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion border, ...	OMIM:617102
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Mosaic Trisomy 8	Decreased testicular size, Cryptorchidism, Cleft palate, High palate, Vesicoureteral reflux, Hydr...	ORPHA:96061
Visceral Myopathy 1	Gastroparesis, Intestinal pseudo-obstruction, Aganglionic megacolon, Abdominal pain, Abdominal di...	OMIM:155310
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ...	OMIM:619950
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism	ORPHA:2377
Robinow Syndrome, Autosomal Recessive 2	Short stature, Cleft soft palate, Anteverted nares, Micrognathia, Abnormality of the dentition, B...	OMIM:618529
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Wide nasal bridge, Feeding difficulties, Nephrocalcinosis, Buphthalmos, High palat...	OMIM:618005
48,Xxyy Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Hypergonadotrop...	ORPHA:10
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchi...	OMIM:611209
Prader-Willi Syndrome Due To Translocation	Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Prominent nos...	ORPHA:177907
Skraban-Deardorff Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Feeding...	OMIM:617616
Omodysplasia 2	Dyspareunia, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Uterus...	OMIM:164745
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Microglossia, Cleft palate, Ambiguous genitalia, Thick anterior al...	ORPHA:2839
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenosis, Gastroesop...	OMIM:617913
Cardiocranial Syndrome, Pfeiffer Type	Hypospadias, High, narrow palate, Cryptorchidism, Umbilical hernia, Micropenis, Bifid uvula, Broa...	ORPHA:2872
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Tetrasomy 15Q26	Hydronephrosis, Horseshoe kidney	OMIM:614846
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury	ORPHA:330021
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Neonatal d...	OMIM:619003
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Death in infancy, Dicarboxylic aciduria, F...	OMIM:613070
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Ambi...	ORPHA:452
Schilbach-Rott Syndrome	Short stature, Hypospadias, Micrognathia, Prominent nose, Long nose, Submucous cleft hard palate,...	OMIM:164220
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Wide nose, Short stature, Hypospadias, Anteverted nares, Micrognath...	OMIM:257300
Li-Campeau Syndrome	Cryptorchidism, Micropenis, Gastrointestinal dysmotility, Long philtrum	OMIM:619189
Birk-Barel Syndrome	Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi...	OMIM:612292
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Cataract, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Retina...	OMIM:620157
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Neurogenic bladder, Wide nose, Short stature, Micrognathia, Protruding tongue, ...	OMIM:608779
Gabriele-De Vries Syndrome	Abnormality of the dentition, Cryptorchidism, Pierre-Robin sequence, Thick lower lip vermilion, H...	OMIM:617557
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Hereditary Fructose Intolerance	Renal insufficiency, Cataract, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney dis...	ORPHA:469
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper...	ORPHA:2729
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism	ORPHA:1192
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Intestinal malrotation, Pulmonary artery stenosis, Aplasia/Hypoplasia of th...	ORPHA:2255
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormality of the kidney...	ORPHA:857
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Cleft upper lip, Bilobe...	OMIM:612284
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Bulbous nose, Feeding ...	ORPHA:261144
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ure...	ORPHA:3339
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide mou...	ORPHA:96092
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Wide nasal bridge, Feeding difficulties, Long philtrum, Short nos...	OMIM:618577
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Short stature, Anteverted nares, Cleft upper lip, Postnatal growth reta...	OMIM:243310
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Severe temper tantrums, T...	OMIM:619854
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Chronic constipation, H...	OMIM:300676
Trisomy 18	Abnormality of the upper urinary tract, Spina bifida, Esophageal atresia, Non-midline cleft lip, ...	ORPHA:3380
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi...	ORPHA:90793
Distal Monosomy 7Q36	Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mouth	ORPHA:1636
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Gingival overgrowth, Gingivitis, Periodontitis, Abno...	ORPHA:722
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle...	ORPHA:1297
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:251028
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Anteverted nares, Abnormal so...	ORPHA:884
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Short stature, Abnormality of the dentition	ORPHA:2776
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Protruding tongue, Diastema, Cryptorchidism, Thick lower lip vermili...	OMIM:301040
Triploidy	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-midline cleft lip, ...	ORPHA:3376
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho...	ORPHA:2496
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Short stature, Anteverted n...	ORPHA:280200
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abno...	ORPHA:537
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Non-midline cleft lip, Male pseudoherm...	ORPHA:2075
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Trisomy 8Q	Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofa...	ORPHA:1752
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, Death in childhood, Macroglo...	OMIM:214100
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis	OMIM:269150
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Impulsivity, O...	OMIM:300143
Trisomy 12P	Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasi...	ORPHA:1699
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Recurrent urinary tract infections, Recurrent aspiration pneumonia...	ORPHA:221139
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau...	ORPHA:369837
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh...	ORPHA:1507
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Corneal opacity, Abn...	ORPHA:364577
Lathosterolosis	Hypoplasia of penis, Cataract, Anteverted nares, Micrognathia, Bulbous nose, Meningocele, Gingiva...	ORPHA:46059
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Glucose-Galactose Malabsorption	Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph...	ORPHA:35710
Schneckenbecken Dysplasia	Cleft palate, Stillbirth, Umbilical hernia, Disproportionate short-limb short stature, Protuberan...	OMIM:269250
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Cryptorchidism, Micropenis	ORPHA:370968
Sialuria	Thin upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Protuberant abdomen, Long...	OMIM:269921
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Pierre-Robin sequence, Cleft ...	OMIM:617201
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Pn...	ORPHA:3404
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Fe...	ORPHA:79113
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Protuberant abdomen, Malar flattening, Short nose	OMIM:614524
Vitamin K Antagonist Embryofetopathy	Cataract, Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Macrogloss...	ORPHA:1914
Kury-Isidor Syndrome	Tented upper lip vermilion, High palate, Widely spaced teeth, Long philtrum, Triangular mouth, Hy...	OMIM:619762
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dental malocclusion, Dilatation of ...	OMIM:616580
20P12.3 Microdeletion Syndrome	Short stature, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth...	ORPHA:261295
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, ...	OMIM:601499
7Q31 Microdeletion Syndrome	Hyperactivity, Wide nasal ridge, Prominent nose, Postnatal growth retardation, Nasogastric tube f...	ORPHA:251061
Kinsship Syndrome	Thin upper lip vermilion, Death in infancy, Thick lower lip vermilion, Gingival overgrowth, Renal...	OMIM:619297
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Cleft upper lip, Pyloric stenosis, Cryptorchidism, Narrow pal...	OMIM:610443
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Feeding diff...	OMIM:613805
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Cryptorchidism, Narrow mouth, Thin vermilion border, Death in childhood	OMIM:618766
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Autosomal Dominant Omodysplasia	Bifid scrotum, Hypoplasia of penis, Cryptorchidism, Long philtrum, Ambiguous genitalia	ORPHA:93328
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Short stature, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal br...	OMIM:618571
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft lip, Pulmonary artery st...	OMIM:611812
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in...	OMIM:602088
Igg4-Related Aortitis	Asthma, Hydronephrosis	ORPHA:449400
15Q24 Microdeletion Syndrome	Smooth philtrum, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality ...	ORPHA:94065
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Short stature, Attention deficit hyperactivity disorder	OMIM:245570
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Primary amenorrhea,...	OMIM:147950
Congenital Fibrinogen Deficiency	Cyanosis, Abdominal pain, Volvulus, Developmental cataract, Gingival bleeding, Micropenis, Bruisi...	ORPHA:335
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Growth delay, Steatorr...	ORPHA:75233
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ...	ORPHA:168558
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Tongue fasci...	OMIM:608800
Thakker-Donnai Syndrome	Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal fistula, Narrow mouth, Hydro...	ORPHA:1780
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Small scrotum, Widely-spaced maxillary central incisors, High palate,...	OMIM:309580
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Wide nose, Anteverted nares, Dorsocervical fat pad, Proportionate short...	ORPHA:391408
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Feeding difficulties, Organic ac...	ORPHA:99742
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Prominent nasal bridge, Aggressive behavior, Hypoplasia of the maxilla, High palate	ORPHA:85279
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Recurrent urinary tract infections, Cleft palate, Cleft upper lip	OMIM:244600
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Hypospadias, Abnormal denta...	ORPHA:439822
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, Oligosacchariduri...	ORPHA:163649
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Feeding difficulties, 3-Methylglu...	ORPHA:496790
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464311
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Renal salt wasting, Female ...	ORPHA:289548
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Achondrogenesis, Type Ii	Microretrognathia, Disproportionate short-trunk short stature, Cleft palate, Stillbirth, Dispropo...	OMIM:200610
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Abdominal distention, Feeding difficulties, Umbilical hernia, Gastroesophageal ...	OMIM:620275
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Aggressive behavior, Narrow mouth, Wide nasal bridge, Narrow palate, Hypoplasia of ...	OMIM:620250
Fetal Valproate Spectrum Disorder	Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi...	ORPHA:1906
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis, Respiratory insufficiency	ORPHA:2484
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Fanconi Anemia	High palate, Abnormality of the uterus, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Hypospadias, Horseshoe kidney, Cryptorchidism	OMIM:218350
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia...	ORPHA:3440
Poland Syndrome	Duplicated collecting system, Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidis...	ORPHA:2911
Alg9-Cdg	Thin upper lip vermilion, Villous atrophy, Hypoplasia of the bladder, Ureteral hypoplasia, Abnorm...	ORPHA:79328
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Respirat...	ORPHA:2636
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Feeding difficulties, High palat...	OMIM:618774
Harel-Yoon Syndrome	Mandibular prognathia, Corneal opacity, Micrognathia, Feeding difficulties, Developmental catarac...	OMIM:617183
Fetal Alcohol Syndrome	Thin upper lip vermilion, Short stature, Anteverted nares, Micrognathia, Non-midline cleft lip, C...	ORPHA:1915
Acromicric Dysplasia	Severe short stature, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Lo...	ORPHA:969
Distal Deletion 10Q	Micrognathia, Prominent nose, Functional abnormality of the bladder, High palate, Vesicoureteral ...	ORPHA:96148
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Hypospadias, Phimosis, Renal hypoplasia, Cleft palate, Dea...	OMIM:309500
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Thin upper lip vermilion, Dental crowding, Hypospadias, Cryptorchidism, Pulmonary...	ORPHA:435938
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Recurrent respiratory infections, Multicystic kidney dysplasia, Supern...	ORPHA:261349
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Depressed nasal bridge, Hypospadias, Short nose	OMIM:616910
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Depressed nasal bridge, Aggr...	OMIM:618430
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Short stature, Micrognathia, Depressed nasal ridge, Wide mouth, Sho...	ORPHA:163966
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, ...	OMIM:619356
Alport Syndrome	Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi...	ORPHA:63
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Short stature, Dental crowding, Broad nasal tip, Hypoplasia of the maxill...	ORPHA:293939
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Gingival overgrowth, Wide nasal bridge,...	OMIM:619179
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul...	OMIM:610628
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Short philtrum, Micropenis, Acrocyanosis, Anteverted nares, Hiatus herni...	ORPHA:2896
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hypospadias, Abnormality of the kidney, Cryptorchidism, Wide mouth, 3-Methylglu...	ORPHA:1194
Fibrochondrogenesis 1	Rhizomelia, Anteverted nares, Depressed nasal bridge, Megalocornea, Cleft palate, Stillbirth, Pro...	OMIM:228520
Teebi-Shaltout Syndrome	Ureteral stenosis, High, narrow palate, Cleft palate, Horseshoe kidney, Wide mouth, Hydronephrosi...	OMIM:272950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Anteriorly placed anus, High palate, Vesicoureteral reflux,...	OMIM:618653
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, ...	ORPHA:478
Thyroid Hypoplasia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation	ORPHA:95720
Tarp Syndrome	Cryptorchidism, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Horseshoe kidney,...	ORPHA:2886
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Holocarboxylase Synthetase Deficiency	Respiratory distress, Organic aciduria, Tachypnea	ORPHA:79242
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
Birk-Aharoni Syndrome	Duplicated collecting system, Cryptorchidism, Micropenis	OMIM:620071
Intellectual Disability, Buenos-Aires Type	Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia, Hydron...	ORPHA:3079
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Cleft palate, Horseshoe kidney, Aplasia of the uterus, Axial malrotati...	ORPHA:3320
Mmep Syndrome	Cryptorchidism, Median cleft lip, Orofacial cleft	ORPHA:3434
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anterior pituitary hypoplasia, Cryptorchidism, Renal hypoplasia, Downturned corner...	ORPHA:264200
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Aggressive behavior, Celiac disease, Absent cupid's bow,...	ORPHA:284169
Microcephaly 27, Primary, Autosomal Dominant	Cryptorchidism, Micropenis	OMIM:619180
Al Amyloidosis	Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Gastroparesis, Abnormality of the ...	ORPHA:85443
Meckel Syndrome, Type 10	Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Cleft palate, Micropenis, Bifid uvula	OMIM:614175
Dubowitz Syndrome	Micrognathia, Feeding difficulties in infancy, Hypoplasia of the iris, Gastroesophageal reflux, H...	OMIM:223370
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Hydronephrosis	OMIM:620327
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Nasogastric tube feeding in infancy, Gastroesophageal reflux, Widely spaced teeth, Micropenis, Ir...	ORPHA:268261
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Orofacial cleft, Clitoral hypoplasia...	ORPHA:97360
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis	OMIM:101800
Coffin-Lowry Syndrome	Feeding difficulties in infancy, Hypoplasia of the maxilla, High palate, Widely spaced teeth, Adv...	ORPHA:192
Sepsis In Premature Infants	Cyanosis, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Jaundice, Oliguria, Enter...	ORPHA:90051
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Diarrhea, Ora...	ORPHA:93552
5Q14.3 Microdeletion Syndrome	Anteverted nares, Feeding difficulties, Short philtrum, Open mouth, Abnormal repetitive mannerism...	ORPHA:228384
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hyperactivity, Hypospadias, Depressed nasal bridge, Wide mouth, Protuberant ...	ORPHA:457485
Orofaciodigital Syndrome V	Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Aganglionic megacol...	OMIM:174300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Micrognathia, Feeding difficulties in infancy, Abnormality...	ORPHA:476126
Trigonocephaly 1	High, narrow palate, Long penis, Wide nasal bridge, Long philtrum, Short nose, Meckel diverticulum	OMIM:190440
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis	ORPHA:2772
1Q21.1 Microdeletion Syndrome	Cryptorchidism, High palate, Long philtrum, Vesicoureteral reflux, Ankyloglossia, Hydronephrosis	ORPHA:250989
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic...	OMIM:251000
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short stature, Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin ve...	ORPHA:2701
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr...	OMIM:617575
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul...	OMIM:300068
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Agg...	ORPHA:65286
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Short stature, Anteverted nares, Self-injurious behavior, Thin vermilion border, H...	OMIM:601853
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Hydronephrosis, Cleft palate	ORPHA:488613
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention, Severe short stature	OMIM:619345
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis	ORPHA:2155
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis	ORPHA:464306
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Weaver Syndrome	Cryptorchidism, Deep philtrum, Hypoplasia of penis, Long philtrum	ORPHA:3447
Microphthalmia, Syndromic 1	Hydroureter, Dental crowding, Aganglionic megacolon, Hypospadias, Cleft upper lip, Renal hypoplas...	OMIM:309800
Tarp Syndrome	Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Neonatal death, Meckel...	OMIM:311900
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Short stature, Depressed nasal bridge, Short nose, R...	ORPHA:166272
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Proteinur...	ORPHA:1018
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Depressed nasal bridge, Anteverted nares, Abdominal distention, Jaundice	OMIM:618528
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Downturned corners of mouth, T...	ORPHA:1895
Rapp-Hodgkin Syndrome	Short stature, Hypospadias, Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Car...	OMIM:129400
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill...	ORPHA:2290
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Micropenis	OMIM:202150
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Renal hypoplasia/aplasia, Non-midline cleft lip, Cleft palate, Orofa...	ORPHA:2549
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Miscarriage, Abnormality of the urethra, Bicornu...	ORPHA:2438
Zaki Syndrome	Renal agenesis, Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Hydronephrosis	OMIM:619648
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Restlessness, Dysuria, Urinary incontinence...	ORPHA:79276
Desmosterolosis	Severe short stature, Depressed nasal bridge, Intestinal malrotation, Renal agenesis, Micrognathi...	ORPHA:35107
Multiple Epiphyseal Dysplasia, Lowry Type	Rhizomelia, Short stature, Broad nasal tip, Cleft hard palate, Micrognathia	ORPHA:166016
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teet...	ORPHA:2728
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Short stature, Intestinal malrotation, Anteverted nares, Cutis marmorat...	OMIM:614701
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs...	OMIM:157170
Temtamy Preaxial Brachydactyly Syndrome	Short stature, Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of ...	ORPHA:363417
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of ...	ORPHA:776
Bartsocas-Papas Syndrome	Median cleft lip, Corneal opacity, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia/apla...	ORPHA:1234
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Stage...	OMIM:166300
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's bow, Hypospadia...	OMIM:619293
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Cryptorchidism, Thick lower lip vermilion, Wide mouth, Macroglossia, Hypogonadism, M...	OMIM:300354
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr...	OMIM:620305
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Proteinuria, Recurrent pneumonia, Death in childhood, Nephrotic syndrome, F...	OMIM:617303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tong...	OMIM:242860
Williams Syndrome	Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G...	ORPHA:904
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Exaggerated cupid's bow, Hypospadias, Narrow mouth, Cryptorchidism, Renal atrophy, Wide mouth, Lo...	OMIM:618659
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis	OMIM:613001
Buratti-Harel Syndrome	Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent...	OMIM:619314
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Microscopic hematuria, Abnormal ren...	OMIM:274150
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent...	OMIM:608612
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Enuresis, Tracheomalacia, Hydronephrosis	ORPHA:96121
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hyperactivity, Hyperopic astigmatism, Hypoplasia of the maxilla, Crowded m...	ORPHA:397973
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormal stomach morphology, Abnormal lung morphology, Abnormality of ...	ORPHA:141127
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophageal reflux, Hypo...	OMIM:619488
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias	OMIM:618840
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Feeding difficulties in infancy, Wide nasal bridge, Short philtrum, Decreased l...	OMIM:618437
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Lo...	ORPHA:73246
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Wide nasal bridge, Feeding dif...	OMIM:619383
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif...	ORPHA:2521
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Cryptorchidism, Everted lower lip v...	ORPHA:228402
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Abnormal lung lobation, Gastroesophageal reflux, Advanced eruption of teeth,...	ORPHA:818
49,Xxxxy Syndrome	Delayed eruption of teeth, Decreased testicular size, Hypoplasia of penis, Small scrotum, Recurre...	ORPHA:96264
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Feeding difficulties in infancy, Carious teeth, Excessive wrinkled skin, High p...	OMIM:219200
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Cryptorchidism, Abnormal renal morphology, Downturned corners of mouth,...	OMIM:613792
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea	OMIM:618841
Celiac Disease, Susceptibility To, 1	Short stature, Abdominal pain, Postnatal growth retardation, Abdominal distention, Diarrhea, Celi...	OMIM:212750
Spastic Paraplegia 16, X-Linked	Restlessness, Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Urinary bladder s...	OMIM:300266
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Depressed nasal bridge, Postnatal growth retardation, Hypercalciuria, Intrauterine g...	OMIM:614732
Warburg Micro Syndrome 3	Cataract, Micrognathia, Postnatal growth retardation, Narrow palate, Developmental cataract, Down...	OMIM:614222
Achondrogenesis	Severe short stature, Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose	ORPHA:932
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Myopic astigmatism, Dysphagia, Volvulus, Abnor...	OMIM:617802
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose	OMIM:614078
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Recurrent respiratory infections, Exaggerated cupid's bow, Intestinal m...	OMIM:618316
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short stature, Hypoplasia of the maxilla, Cleft palate, Vesicoureteral reflux, Short nose	OMIM:614261
Achondrogenesis Type 1B	Severe short stature, Anteverted nares, Micrognathia, Disproportionate short stature, Long philtr...	ORPHA:93298
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur...	OMIM:608670
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	High, narrow palate, Cryptorchidism, Wide mouth, Downturned corners of mouth, Umbilical hernia	OMIM:273390
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Bardet-Biedl Syndrome 1	Decreased testicular size, Aganglionic megacolon, Dental crowding, Abnormality of the kidney, Hig...	OMIM:209900
48,Xxxy Syndrome	Delayed eruption of teeth, Decreased testicular size, Hypoplasia of penis, Small scrotum, Recurre...	ORPHA:96263
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia	ORPHA:1918
Cousin Syndrome	Ambiguous genitalia, female, Alveolar ridge overgrowth, Cleft palate, Ambiguous genitalia, male, ...	OMIM:260660
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Hypogeusia, Growth delay, Corneal ulceration, Vomiting...	OMIM:223900
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Hypospadias, Cryptorchidism, High palate, Broad alveolar ridges, Renal dysplasia	OMIM:300004
Cerebellar-Facial-Dental Syndrome	Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macro...	ORPHA:444072
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous cleft har...	OMIM:222765
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Gastroesophageal reflux, Short philtrum, Short nose, Abnormal repetit...	ORPHA:85277
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Cryptorchidism, Dental malocclus...	OMIM:101200
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cryptorchidism, Macroglossia, Open mouth, Micropenis	OMIM:613156
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High palate, Hepa...	ORPHA:798
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short stature, Anteverted nares, Depressed nasal bridge, Jaundice, Feeding difficulties, Macroglo...	OMIM:613038
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Cataract, Short stature, Dental crowding, Micrognathia, Hypoplasia of ...	OMIM:257850
Fanconi-Bickel Syndrome	Hyperphosphaturia, Abdominal distention, Hypercalciuria, Generalized aminoaciduria, Growth delay,...	ORPHA:2088
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narr...	ORPHA:2115
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Short stature, Depressed nasal bridge, Proportionate short stature, Lens ...	OMIM:608328
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Feeding di...	ORPHA:313892
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal steno...	ORPHA:1790
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Gastrointestinal dysmotility, Dysphagia, Abnormal concentration of acylca...	ORPHA:391428
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Epispa...	OMIM:615948
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Petechiae, Micrognathia, N...	OMIM:608013
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am...	ORPHA:1772
Tetanus	Respiratory distress, Elevated urinary epinephrine level, Tachypnea, Elevated urinary norepinephr...	ORPHA:3299
Ovarian Fibroma	Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain	ORPHA:314473
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Bifid uterus, Anencephaly, Abnormal lung lobation, Cleft palate, S...	OMIM:236680
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Hurler Syndrome	Short stature, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Heparan sulfate excreti...	OMIM:607014
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Cleft palate, Abnormality of the scrotu...	ORPHA:397590
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Micrognathia, Wide nasal bridge, Hypoplastic nasal tip, High ...	ORPHA:3304
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Distal Deletion 12Q	Median cleft lip, Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Supernumerary t...	ORPHA:96149
Dubowitz Syndrome	Delayed eruption of teeth, Hypoparathyroidism, Anal stenosis, Hypospadias, Abnormality of the den...	ORPHA:235
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Renal dysplasia, Recurrent respiratory infections, Abnormality of the dentition,...	OMIM:300968
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Wide nasal bridge, Feeding difficulties, High palate, Short nose	OMIM:218000
Distal Duplication 15Q	Cryptorchidism, Downturned corners of mouth, High palate, Long philtrum, Abnormality of female ex...	ORPHA:1707
Tetrasomy 5P	Cyanosis, Anteverted nares, Micrognathia, Postnatal growth retardation, Wide nasal bridge, High p...	ORPHA:3309
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short stature, Anteverted nares, Broad nasal tip, Postnatal growth retardation, Carious teeth, Ab...	ORPHA:357074
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Microphallus, Abnormal renal collecting system morphology...	ORPHA:468631
Double Outlet Right Ventricle	Cyanosis, Short stature, Intestinal malrotation, Depressed nasal bridge, Submucous cleft hard pal...	ORPHA:3426
Coffin-Siris Syndrome	Intrauterine growth retardation, Thick nasal alae, Hyperactivity, Hypospadias, Anteverted nares, ...	ORPHA:1465
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent pneumonia, Death in c...	OMIM:613177
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Eec Syndrome	Hypospadias, Abnormal dental enamel morphology, Decreased response to growth hormone stimulation ...	ORPHA:1896
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Lacticaciduria	OMIM:615595
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre...	ORPHA:391641
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Bifid scrotum, Tented upper lip vermilion, Hyposp...	OMIM:619148
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Supernu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Supernu...	ORPHA:352665
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph...	ORPHA:210122
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Aspiration, Multiple renal cysts, Respiratory dis...	OMIM:618733
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, High, narrow palate, Recurrent ...	ORPHA:464738
Myhre Syndrome	Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Severe short stature...	ORPHA:2588
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Hypospadias	OMIM:619272
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Stage 5 c...	OMIM:616730
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Anterior...	OMIM:617159
Acrocallosal Syndrome	Cryptorchidism, Hypospadias	ORPHA:36
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Si...	ORPHA:183
Trisomy 10P	Anteverted nares, Depressed nasal bridge, Abnormality of the kidney, Micrognathia, Abnormality of...	ORPHA:171929
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Esophageal atresia, Cryptorchidism, Trach...	ORPHA:3412
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Ureteropelvic junction obstruction, Duplicated collecting system, Clef...	OMIM:280000
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 18	Nuclear cataract	OMIM:610019
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, Anteriorly placed anus, ...	ORPHA:247262
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Keipert Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Short stature, Depressed nasal bridge, Promi...	ORPHA:2662
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Short lingual frenulum, Short stature, Partial anosmia, Total anosmia, Renal agenesis, ...	ORPHA:2326
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Acute respiratory distress syndrome, Wheezing, Renal hypoplasia, Respiratory insufficiency, Cough...	OMIM:620005
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Annular pancreas, Abnormal lung lo...	ORPHA:264450
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis	OMIM:618419
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal ins...	ORPHA:900
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ...	OMIM:214800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Absent nipple, Cryptorchidism, Widely spaced teeth, Male urethral meatus stenosis, Hypoplastic ni...	OMIM:616001
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth...	OMIM:601216
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Cyanosis, Nasal regurgitation, Narrow jaw, Feeding difficulties, Gastroesophag...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Cyanosis, Nasal regurgitation, Narrow jaw, Feeding difficulties, Gastroesophag...	ORPHA:590
Marshall-Smith Syndrome	Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Choanal s...	OMIM:602535
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abdominal pain, Diarrhea, Fun...	ORPHA:357001
Down Syndrome	Cataract, Aganglionic megacolon, Depressed nasal bridge, Prematurely aged appearance, Protruding ...	ORPHA:870
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Carious teeth, Cryptorchid...	OMIM:619522
Alternating Hemiplegia Of Childhood	Exaggerated cupid's bow, Mydriasis, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abd...	ORPHA:2131
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Cataract, Short stature, De...	OMIM:300990
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cryptorchidism, Hypospadias	OMIM:620135
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Lens luxation, Ectopia lentis, Xanthin...	OMIM:252160
Schisis Association	Encephalocele, Renal agenesis, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate...	ORPHA:63862
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Cryptorchidism, Gingival o...	OMIM:268310
Cohen Syndrome	Short stature, Prominent nasal bridge, Micrognathia, Feeding difficulties in infancy, Hypoplasia ...	OMIM:216550
Spondylometaphyseal Dysplasia, Schmidt Type	Severe short stature, Cleft soft palate, Micrognathia, Nasogastric tube feeding in infancy, Dispr...	ORPHA:93316
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal renal morphology, Hypoplastic labia majora, Long philtrum, Vaginal atresia, Fused labia ...	OMIM:207410
Encephalopathy, Ethylmalonic	Death in infancy, Chronic diarrhea, Feeding difficulties, Ethylmalonic aciduria, Acrocyanosis, Pe...	OMIM:602473
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Abnormality of the urinar...	ORPHA:95699
3Mc Syndrome 3	Bifid scrotum, Cleft upper lip, Cryptorchidism, Horseshoe kidney, Cleft palate, Micropenis, Penos...	OMIM:248340
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Ma...	OMIM:227810
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cleft upper lip, Cry...	OMIM:615849
Malignant Peritoneal Mesothelioma	Abdominal distention, Peritonitis, Ileus, Abdominal pain	ORPHA:168811
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, Clitoral h...	OMIM:180700
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Hyperactivity, Dental crowding, Prominent nasal br...	OMIM:309520
15Q Overgrowth Syndrome	Dental crowding, Ureterovesical stenosis, High, narrow palate, Abnormal renal morphology, Horsesh...	ORPHA:314585
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Long philtr...	ORPHA:2505
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Recombinant 8 Syndrome	Small scrotum, Abnormality of the kidney, Cleft upper lip, Abnormality of the dentition, Cryptorc...	ORPHA:96167
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Cryptorchidism, Micropenis, Thin vermilion border, Narrow mouth	OMIM:612447
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Kleefstra Syndrome 1	Natal tooth, Recurrent respiratory infections, Hypospadias, Protruding tongue, Persistence of pri...	OMIM:610253
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Campomelic Dysplasia	Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis, Cleft palate	ORPHA:140
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Diffuse telangiectasia, Concave nas...	OMIM:170100
Aarskog-Scott Syndrome	Short stature, Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, C...	OMIM:305400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Recurrent urinary tract infections, Perianal abscess, Cryptorch...	OMIM:612541
Non-Distal Duplication 13Q	Abnormality of the dentition, Micrognathia, Thin vermilion border, High palate, Everted lower lip...	ORPHA:1702
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Short stature, Prom...	OMIM:300534
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Hypospadias, Renal agenesis, Spina bifida, Renal hypoplasia, Horseshoe ...	ORPHA:508498
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Congenital Heart Block	Feeding difficulties in infancy, Intrauterine growth retardation, Cyanosis	ORPHA:60041
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Short stature, Cleft soft palate...	OMIM:615582
Deeah Syndrome	Prominent nasal tip, Death in infancy, Short stature, Malabsorption, Narrow mouth, Exocrine pancr...	OMIM:619004
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Microdontia, Cryptorchidism, Hypodontia	ORPHA:1174
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Orofacial cleft, Hypogonadism, Decreased test...	ORPHA:127
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D...	ORPHA:2753
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly	OMIM:618901
Ruvalcaba Syndrome	Dental crowding, Convex nasal ridge, Abnormal localization of kidney, Hematuria, Thin vermilion b...	ORPHA:3121
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Jacobsen Syndrome	Smooth philtrum, Death in infancy, Multicystic kidney dysplasia, Recurrent respiratory infections...	ORPHA:2308
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Anteverted nares, Micrognathia, Wi...	OMIM:247200
Phocomelia, Schinzel Type	Hypoplasia of penis, High, narrow palate, Cryptorchidism, Meningocele, Tracheoesophageal fistula,...	ORPHA:2879
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis	ORPHA:141099
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Severe short stature, Cataract, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Carious teeth, Downturned corners of mouth, Hypopl...	ORPHA:1110
Brachycephaly, Trichomegaly, And Developmental Delay	Short stature, Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lo...	OMIM:617412
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Short ph...	OMIM:300712
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Increased urinary glycerol, Intermittent hyperventilation, Episodic tachypn...	ORPHA:348
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Polyphagia, Enuresis nocturna, Oligodontia, Gastroesophageal reflux, Widely ...	OMIM:615873
Succinic Acidemia	Respiratory distress	OMIM:600335
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:616030
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Attention deficit hyperactivity d...	ORPHA:210548
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Hypogonadotropic hypogonadism, Cleft palate, Cryptorchidism	OMIM:612370
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Postnatal growth retardation, Micrognathia, Car...	OMIM:117650
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Cenani-Lenz Syndrome	Cataract, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, High, narrow palate, Short...	ORPHA:3258
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the ovary, Neoplasm of the or...	ORPHA:543
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cryptorchidism, Cleft palate, Hypoplastic labia majora, ...	OMIM:244300
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Hydrometrocolpos, Aplasia of the ...	OMIM:617088
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Tetraamelia Syndrome 2	Absent nipple, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bila...	OMIM:618021
Desbuquois Dysplasia 1	Microretrognathia, Severe short stature, Depressed nasal bridge, Developmental glaucoma, Growth d...	OMIM:251450
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size	OMIM:614897
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Diamond-Blackfan Anemia 10	Respiratory distress, Renal duplication, Ectopic kidney	OMIM:613309
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tented philtrum, Gingival o...	ORPHA:363659
Cohen Syndrome	Short stature, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Feeding difficulties ...	ORPHA:193
8P23.1 Microdeletion Syndrome	Short stature, Hypospadias, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Growth delay...	ORPHA:251071
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Peters anomaly, Smooth philtrum	OMIM:614526
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Erythema, Wide nasal bridge, Thin vermilion border, Neo...	OMIM:610015
Microphthalmia, Syndromic 8	Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i...	OMIM:601349
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Renal hypoplasia/aplasia, Pulmonary hypoplasia, Abnormality of female external genitalia, Vaginal...	ORPHA:1112
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Short stature, Anteverted nares, Depressed nasa...	ORPHA:950
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Marshall Syndrome	Thick upper lip vermilion, Cataract, Short stature, Anteverted nares, Depressed nasal bridge, Mic...	OMIM:154780
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Cleft palate, Severe short stature, Disproportionate short-limb short stature, Protuberant abdomen	OMIM:184250
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Diastema, Cryptorchidism, Abnormal renal morphology, Downturned corners...	ORPHA:329224
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma...	ORPHA:50814
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Aggressive behavior, Submucous...	OMIM:619680
Peho Syndrome	Tented upper lip vermilion, Feeding difficulties in infancy, Open mouth, Retrognathia, Short nose	OMIM:260565
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Delayed eruption of permanent teeth, Periodontitis...	OMIM:619269
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn...	OMIM:192350
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Intrauterin...	OMIM:620183
Macs Syndrome	Irregular dentition, Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenosis, Gingival ...	OMIM:613075
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Thin upper lip vermilion, Cryptorchidism, Wide mouth, Everted lower lip vermilion, Gastroesophage...	OMIM:619595
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate, Bile d...	OMIM:603194
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Glomerulopathy, Renal insufficiency, Cataract, Short stature, Proteinuria,...	ORPHA:2715
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Ab...	ORPHA:3201
Blomstrand Lethal Chondrodysplasia	Natal tooth, Cataract, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Protru...	ORPHA:50945
Fetal Akinesia Deformation Sequence 2	Cryptorchidism, Tented upper lip vermilion, High palate, Cleft palate	OMIM:618388
Chromosome 16Q22 Deletion Syndrome	Cryptorchidism, High palate, Hypospadias	OMIM:614541
Carnitine Deficiency, Systemic Primary	Respiratory distress, Dicarboxylic aciduria	OMIM:212140
Cardiac-Urogenital Syndrome	Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Intestinal malrotation, Crypto...	OMIM:618280
Williams-Beuren Syndrome	Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Microdontia, M...	OMIM:194050
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, Short ...	ORPHA:2835
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf...	ORPHA:51890
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Recurrent sinusitis, Unilateral renal agenesis	OMIM:213980
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Small scrotum, Hypospadias, Carious teeth, Cryptorchidism, Cleft palate...	OMIM:616734
Syndromic Diarrhea	Villous atrophy, Gastritis, Renal hypoplasia, Colitis, Hypoplasia of the thymus, Polycystic kidne...	ORPHA:84064
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Feeding difficult...	ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 58	Short stature, Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, ...	OMIM:618106
Cardiofaciocutaneous Syndrome 1	Micrognathia, Feeding difficulties in infancy, Deep philtrum, Vomiting, Gastroesophageal reflux, ...	OMIM:115150
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis	ORPHA:990
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnata...	ORPHA:319182
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Cleft palate, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasi...	OMIM:214110
Leopard Syndrome 1	Micropenis, Hypospadias, Unilateral renal agenesis	OMIM:151100
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Cleft palat...	OMIM:617063
Postaxial Acrofacial Dysostosis	Abnormality of the kidney, Supernumerary nipple, Cleft upper lip, Conical tooth, Midgut malrotati...	OMIM:263750
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short stature, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature, Progeroid facial appea...	OMIM:608154
Cataract-Intellectual Disability-Hypogonadism Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Furrowed tongue, Everted lower lip vermilion, High...	ORPHA:1387
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Hypoplasia of penis, Anosmia, Hypoplasia of the zygomatic bone, Abnorma...	ORPHA:1295
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Restlessness, Cataract, Feeding difficulties, Hypodontia, Short nose, Gastro...	ORPHA:544503
Wilson Disease	Acute hepatic failure, Hyperphosphaturia, Proteinuria, Abdominal distention, Jaundice, Esophageal...	OMIM:277900
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Intestinal malrot...	OMIM:147920
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Short stature, Anteverted nares, Cleft upper l...	ORPHA:261236
Schaaf-Yang Syndrome	Abnormality of the philtrum, Cryptorchidism, Micropenis, Hypogonadism, Gastroesophageal reflux, O...	OMIM:615547
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Renal cyst, Cleft palate, Bile duct prolif...	OMIM:611561
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Anteverted nares, Depressed nasal bridge, Choanal atresia, Coronal hypospadias, Es...	OMIM:619859
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Short stature, Dental crowding, Anteverted nares, Pierre-Robin sequence...	OMIM:617877
Atelosteogenesis, Type I	Encephalocele, Rhizomelia, Depressed nasal bridge, Micrognathia, Cleft palate, Stillbirth, Dispro...	OMIM:108720
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Martsolf Syndrome 1	Cataract, Short stature, Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, H...	OMIM:212720
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Short stature, Death in infancy, Death in childhood	OMIM:619423
Fetal Hydantoin Syndrome	Short stature, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Intr...	ORPHA:1912
Esophageal Atresia	Barrett esophagus, Cyanosis, Intestinal malrotation, Choanal atresia, Renal agenesis, Feeding dif...	ORPHA:1199
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Anteverted nares, Choanal atresia, Micrognathia, Feeding difficulties in infancy, ...	OMIM:610536
3-Methylglutaconic Aciduria, Type V	Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Decreased te...	OMIM:610198
Schwartz-Jampel Syndrome	Pursed lips, Death in infancy, Narrow mouth, Supernumerary tooth, Dental malocclusion, Abnormalit...	ORPHA:800
Oculodentodigital Dysplasia	Narrow nasal bridge, Neurogenic bladder, Cataract, Anteverted nares, Selective tooth agenesis, Na...	OMIM:164200
Niemann-Pick Disease, Type A	Short stature, Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Prol...	OMIM:257200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Urinary incontinence, Respiratory failure, Neonatal death, P...	OMIM:616482
Moebius Syndrome	Respiratory distress, Micropenis	OMIM:157900
1Q41Q42 Microdeletion Syndrome	Short stature, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous clef...	ORPHA:250999
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin...	ORPHA:2092
Mirizzi Syndrome	Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, ...	ORPHA:521219
Mowat-Wilson Syndrome	Delayed eruption of teeth, Cataract, Short stature, Hypospadias, Aganglionic megacolon, Abnormali...	OMIM:235730
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Cataract, Short stature, Malabsorption, Chronic diarrhe...	OMIM:601675
Cri-Du-Chat Syndrome	Hypospadias, Abnormality of the kidney, Cryptorchidism, Thick lower lip vermilion, Orofacial clef...	OMIM:123450
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Hematem...	OMIM:263200
Chromosome 18P Deletion Syndrome	Cryptorchidism, Micropenis, Gonadal dysgenesis, High palate, Tooth malposition, Decreased testicu...	OMIM:146390
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Non-midline cleft lip, Anencephal...	ORPHA:1335
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Anal atresia	ORPHA:93950
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Abnormality of the upper urinary ...	ORPHA:2916
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Iris col...	ORPHA:861
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis,...	ORPHA:488627
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Growth delay, Protuberant abdomen, E...	OMIM:277440
Mohr Syndrome	Median cleft lip, Short stature, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, H...	OMIM:252100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tub...	ORPHA:79259
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Depressed n...	ORPHA:178303
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Abnormal dental morphology, Urinary incontinence, Delaye...	ORPHA:191
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Perineal hypospadias, Micropenis, Hypoplas...	ORPHA:3134
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Gastroesophageal reflux, Short philtrum, Conj...	OMIM:616268
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Increased level of L-fucos...	OMIM:215600
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Aggressive behavior, Hypoplasia of the maxilla, Bulbous nose, Feeding difficult...	ORPHA:481152
Filippi Syndrome	Ambiguous genitalia, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Microdont...	OMIM:272440
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis	ORPHA:621
Branchial Arch Syndrome, X-Linked	High, narrow palate, High palate, Cryptorchidism	OMIM:301950
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of pe...	OMIM:616894
Zttk Syndrome	Feeding difficulties in infancy, Hypoplasia of the maxilla, Downturned corners of mouth, High pal...	OMIM:617140
High Altitude Pulmonary Edema	Nausea and vomiting, Cyanosis, Anorexia, Hypoxemia	ORPHA:330012
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Dental crowding, Underdeveloped nasal alae, Postnatal growth ...	OMIM:193700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Anteverted nares, Underdeveloped nasal alae, Meningo...	ORPHA:2031
Choanal Atresia	Cyanosis, Feeding difficulties, Nasal congestion, Choking episodes, Chronic sinusitis	ORPHA:137914
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni...	ORPHA:343
Mucopolysaccharidosis Type 3	Adenoiditis, Thick nasal alae, Hyperactivity, Hypersexuality, Constipation, Thick vermilion borde...	ORPHA:581
Meier-Gorlin Syndrome 4	Short stature, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Feeding diffic...	OMIM:613804
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Conjunctivitis, Iris coloboma, Convex ...	ORPHA:207
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Dyspnea, Stage 5 chro...	OMIM:308940
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ...	ORPHA:1876
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Widely spaced teeth, Short stature, Anteverted nares...	OMIM:601358
Fixed Drug Eruption	Stomatitis, Oral ulcer, Vaginal mucosal ulceration	ORPHA:293812
Sim1-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypog...	ORPHA:398079
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Feeding difficulties, Cervical myelopathy, Dysphagia	OMIM:207950
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hypospadias, Asthma, Recurrent pneumonia, Me...	ORPHA:209905
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Protruding tongue, Feeding difficulties in infancy, Hypopla...	OMIM:105830
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Castleman Disease	Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Abdominal pain, Abdominal diste...	ORPHA:160
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Microcornea, Broad columella, Anteverted nares, Abnormal den...	ORPHA:2710
Autosomal Recessive Omodysplasia	Rhizomelia, Anteverted nares, Short stature, Micrognathia, Depressed nasal bridge, Pterygium, Lon...	ORPHA:93329
Autosomal Dominant Centronuclear Myopathy	Pyloric stenosis, Miscarriage, Urinary incontinence, Cryptorchidism	ORPHA:169189
Hydrolethalus	Cryptorchidism, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Unilatera...	ORPHA:2189
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Short lingual frenulum, Depressed nasal bridge, Wide nasal bridge, Feeding difficult...	OMIM:619479
Short Stature-Micrognathia Syndrome	Small scrotum, Cryptorchidism, Cleft palate, High palate, Gastroesophageal reflux, Micropenis, Pe...	OMIM:617164
Tetrasomy 9P	Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Bifid uvul...	ORPHA:3310
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Umbilical hernia, Hypospadias	OMIM:175700
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Short stature, Anosmia, Short nose, Short nasal septum	OMIM:302950
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Gapo Syndrome	Keratoconus, Prominent scalp veins, Anteverted nares, Depressed nasal bridge, Megalocornea, Micro...	OMIM:230740
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Narrow mouth, Abnormal renal morphology, Cleft palate, Hypopla...	ORPHA:83
Oculoskeletodental Syndrome	Renal agenesis, Cryptorchidism, Hypercalciuria, Macroglossia, Oligodontia, Mucopolysacchariduria,...	OMIM:618440
Frontofacionasal Dysplasia	Cataract, Cleft upper lip, Underdeveloped nasal alae, Orofacial cleft, Microcornea, Midline defec...	OMIM:229400
Severe X-Linked Intellectual Disability, Gustavson Type	Micrognathia, Recurrent upper respiratory tract infections, Severe postnatal growth retardation, ...	ORPHA:3078
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Abnormal palate...	ORPHA:93262
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Neonatal respiratory distress, Respiratory distress	OMIM:260400
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Megalocorn...	OMIM:211380
Van Esch-O'Driscoll Syndrome	Short stature, Depressed nasal bridge, Impulsivity, Esophageal atresia, Spina bifida occulta, Tra...	OMIM:301030
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism, Downturned corners o...	ORPHA:96147
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Micropenis	ORPHA:2519
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, High palate, Hypospadias	ORPHA:98791
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Short nose, Feeding difficulties, W...	OMIM:616638
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic...	ORPHA:989
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Oligodontia, Gastroesophageal...	ORPHA:2044
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares, Long philtrum	ORPHA:3074
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Intestinal obstruction, Hypoplasia of penis...	ORPHA:2323
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnormality of the kidney	ORPHA:2273
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Gastroesophageal reflux, Dysphagia, Vesicoureteral reflux	ORPHA:494344
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Short ph...	ORPHA:163979
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent nose, Thick lower lip vermilion, Growth delay, Long philtrum, Acrocyanosis	OMIM:614407
Bnar Syndrome	Renal agenesis	ORPHA:217266
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone...	ORPHA:3145
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Anteverted nares, Abnormality of the dentition, Postnatal growth retardation, Downturne...	OMIM:612394
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Cranioectodermal Dysplasia 1	Rhizomelia, Anteverted nares, Renal magnesium wasting, High, narrow palate, Chronic kidney diseas...	OMIM:218330
Dysostosis, Stanescu Type	Narrow nasal bridge, Short stature, Abnormal dental enamel morphology, Abnormality of the dentiti...	ORPHA:1798
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodo...	OMIM:615502
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Death in childhood, Chronic lung disease	OMIM:613848
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis	ORPHA:541423
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Death in infancy, 4-hydroxyphenylacetic aciduria, Abdominal distention, Jaundice, 4-Hydroxyphenyl...	OMIM:617156
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Hypospadias, Decreased response to growth hormone stimulation test, Precocious p...	ORPHA:96182
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Cryptorchidism, Recurrent pneumonia, Umbilical hernia, Open mouth	ORPHA:500159
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Short stature, Anteverted nares, Depressed nasal bridge, Corneal opacity, Cata...	ORPHA:2719
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Cleft palate, Death in chi...	OMIM:600460
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Pneumothorax, Cl...	OMIM:601776
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Emphysema	ORPHA:90348
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Severe short stature, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:2554
Pituitary Stalk Interruption Syndrome	Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Cryptorchidism, Primary ameno...	ORPHA:95496
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Abnormality of the t...	ORPHA:2990
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Multicystic kidney dysplasia, Small scrotum, Clitoral h...	OMIM:606170
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Hypospadias, Cryptorchidism, Dental malocclusion, Clef...	OMIM:210600
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, High palate, Hydronephrosis	ORPHA:35173
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel...	ORPHA:79500
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Dyspnea, Cough, Pleural effusion, Hydronephrosis	ORPHA:35687
Mucolipidosis Ii Alpha/Beta	Anteverted nares, Depressed nasal bridge, Micrognathia, Myelopathy, Gingival overgrowth, Growth d...	OMIM:252500
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Distal Duplication 17Q	Thin upper lip vermilion, Cryptorchidism, Cleft palate, Wide mouth, High palate, Short philtrum, ...	ORPHA:3379
Charge Syndrome	Delayed eruption of teeth, Bifid scrotum, Hypogonadotropic hypogonadism, Cleft upper lip, Abnorma...	ORPHA:138
Early Infantile Epileptic Encephalopathy	Precocious puberty, Cleft palate, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia	ORPHA:1934
8Q24.3 Microdeletion Syndrome	Respiratory distress, Abnormality of the kidney, Unilateral renal agenesis, Bilateral renal hypop...	ORPHA:508488
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Fetal pyelectasis	ORPHA:50810
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Recurrent respiratory infections, Tented upper lip vermilion, Hypospadias, Cryptorchidism, Dyspha...	OMIM:300260
Tetrasomy 18P	Thin vermilion border, Narrow mouth, Achalasia, Short nose, Long philtrum	ORPHA:3307
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Agitation, Micropenis, Short nose	OMIM:613870
Diamond-Blackfan Anemia 8	Short stature, Wide nasal bridge, Growth delay, Short nose, Thick upper lip vermilion	OMIM:612563
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cataract, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, ...	ORPHA:2250
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, High palate, Short philtrum, Long...	OMIM:618929
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph...	ORPHA:2750
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Thick lower lip vermilion, Denta...	OMIM:300519
Adenylosuccinase Deficiency	Thin upper lip vermilion, Hyperactivity, Anteverted nares, Aggressive behavior, Growth delay, Wid...	OMIM:103050
Mucopolysaccharidosis, Type Vii	Severe short stature, Short stature, Corneal opacity, Postnatal growth retardation, Heparan sulfa...	OMIM:253220
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Microphthalmia With Limb Anomalies	Depressed nasal bridge, Cleft upper lip, Postnatal growth retardation, Deep philtrum, Flared nost...	OMIM:206920
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Hypoplasia of penis, Abnormal palate morphology	ORPHA:3082
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Generalized aminoaciduria, Growth delay, Protuberant abdomen, Enamel h...	OMIM:264700
Chops Syndrome	Cataract, Short stature, Gastroparesis, Anteverted nares, High, narrow palate, Horseshoe kidney, ...	OMIM:616368
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Wide mouth, Polycystic kidney dysplasia, Long philtrum, Short nose	OMIM:608776
Al-Raqad Syndrome	Chronic constipation, Short nose, Thin upper lip vermilion, Narrow mouth	OMIM:616459
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Anteverted nares, High, narrow palate, Submucous cleft hard palate, Fee...	OMIM:612863
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Cryptorchidism, Submucous cleft hard palate, Functiona...	ORPHA:1340
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties	OMIM:619239
Stickler Syndrome, Type I	Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous cleft hard palate, Pi...	OMIM:108300
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Short stature, Dental crowding, Anteverted nares, Depressed n...	OMIM:617157
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Pycnodysostosis	Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia...	ORPHA:763
Atelosteogenesis, Type Iii	Rhizomelia, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar ...	OMIM:108721
Laryngeal Abductor Paralysis	Cyanosis, Dysphagia	OMIM:150260
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Aminoaciduria, Short ...	ORPHA:99688
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas...	ORPHA:3085
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar...	OMIM:615300
Congenital Disorder Of Glycosylation, Type It	Dyspnea, Hydronephrosis, Pulmonary arterial hypertension	OMIM:614921
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm...	ORPHA:95455
C Syndrome	Short stature, Anteverted nares, Accessory oral frenulum, Micrognathia, Wide nasal bridge, Renal ...	OMIM:211750
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Tented upper lip vermilion, Small scrotum, Pneumonia, Cryptorch...	ORPHA:98905
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Supernumerary nipple, Cryptorchidis...	ORPHA:217346
Holoprosencephaly 3	Cleft lip, Cleft palate, Hydronephrosis, Solitary median maxillary central incisor, Bifid uvula	OMIM:142945
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Hypospadias, Renal salt wasting, Female external genitalia in individual wi...	ORPHA:90791
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Feeding dif...	OMIM:615803
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate, Feeding difficulties	ORPHA:209908
Congenital Pulmonary Lymphangiectasia	Growth delay, Cyanosis, Gastroesophageal reflux	ORPHA:2414
Ogden Syndrome	Micrognathia, Deep philtrum, Vomiting, Short philtrum, High palate, Thick upper lip vermilion, Ab...	OMIM:300855
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypospadias, Hypoplasia of the maxilla, ...	OMIM:180500
Donnai-Barrow Syndrome	Depressed nasal bridge, Proteinuria, Intestinal malrotation, Umbilical hernia, Short nose, Iris c...	ORPHA:2143
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Depressed nasal bridge, Choanal atresia, Hypoplasia of th...	OMIM:101600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Postnatal g...	OMIM:613320
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Narrow mouth, Long philtrum, Micropenis, Decreased testicular size	OMIM:615663
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flattening, Short nos...	OMIM:616420
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Underdeveloped nas...	ORPHA:1968
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Poor wound healing, Narrow mouth, High palate, Long philtrum, Short nose	OMIM:615539
Gabriele-De Vries Syndrome	Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Abnor...	ORPHA:506358
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis	ORPHA:261337
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cryptorchidism, Aminoaciduria, Gastroesophageal reflux	OMIM:249270
Leprechaunism	Reduced subcutaneous adipose tissue, Wide nose, Postnatal growth retardation, Abdominal distentio...	ORPHA:508
German Syndrome	Cryptorchidism, Orofacial cleft, Everted lower lip vermilion, High palate, Dysphagia, Ambiguous g...	ORPHA:2077
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Esophageal atresia, Cryptorchidism, Tracheoes...	ORPHA:3157
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Short philtrum, ...	ORPHA:96184
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Aganglionic megacolon,...	ORPHA:653
Cree Mental Retardation Syndrome	Bifid scrotum, Cryptorchidism, Hypospadias, Cleft soft palate	OMIM:606851
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Ritscher-Schinzel Syndrome 4	Cryptorchidism, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum, D...	OMIM:619435
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Mucopolysaccharidosis, Type Ix	Depressed nasal bridge, Submucous cleft hard palate, Short stature, Bifid uvula	OMIM:601492
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology	ORPHA:1540
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Cryptorchidism, Tongue fasciculations, Hypoplastic male external genitalia	OMIM:618823
Fg Syndrome Type 1	Dental crowding, Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric ...	ORPHA:93932
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Microphallus	OMIM:300957
Thyroid Ectopia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbilica...	ORPHA:95712
Floating-Harbor Syndrome	Thin upper lip vermilion, Hypospadias, Celiac disease, Carious teeth, Cryptorchidism, Glandular h...	OMIM:136140
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Premature ovarian insufficiency, Recurrent bro...	OMIM:251260
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Renal salt wasting, Abdomina...	ORPHA:275761
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Short stature, Reye syndrome-like episodes, Abdominal distention, Diarrhea...	OMIM:256810
Breath-Holding Spells	Cyanosis	OMIM:607578
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis	OMIM:154400
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Temple Syndrome	Decreased testicular size, Precocious puberty, Cryptorchidism, Cleft palate, High palate, Short p...	OMIM:616222
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Ureteral stenosis, Cleft palate, Sti...	OMIM:309350
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short no...	ORPHA:329178
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, High, narr...	OMIM:188400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention defici...	OMIM:619580
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent urinary tract infections, Recurrent respiratory infections, Dental crowdin...	ORPHA:353281
Poikiloderma With Neutropenia	Short stature, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, Te...	OMIM:604173
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Intermittent jaundice, Facial ...	ORPHA:100085
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly...	OMIM:613091
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Cleft upper lip, Anencephaly, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Depressed nasal bridge, Anteverted nares, Death in childhood, Short nose	OMIM:618961
Pfeiffer Syndrome	Mandibular prognathia, Short stature, Wide nasal bridge, High palate, Hypoplasia of the zygomatic...	ORPHA:710
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
Donnai-Barrow Syndrome	Cataract, Depressed nasal bridge, Proteinuria, Intestinal malrotation, Broad nasal tip, Non-acido...	OMIM:222448
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Downturned corners of m...	ORPHA:1299
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614749
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac...	OMIM:619351
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Short stature, Dental crowding, Anteverted nares, Microgna...	OMIM:145420
Cadds	Intrauterine growth retardation, Short nose, Cataract, Micrognathia	ORPHA:369942
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, ...	OMIM:607932
Diamond-Blackfan Anemia 1	Cleft upper lip, Renal hypoplasia, Cleft palate, Colon cancer, High palate, Spina bifida occulta	OMIM:105650
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex...	ORPHA:87
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Hyperplasia of the maxilla	OMIM:613671
Glycogen Storage Disease Ia	Proteinuria, Short stature, Nephrolithiasis, Growth delay, Focal segmental glomerulosclerosis, Pr...	OMIM:232200
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Renal salt wasting, Precocious puberty, Cryptorchidism, Oligozoosp...	OMIM:300200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Hydronephrosis	ORPHA:254528
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation, Narrow palate, Abnormal palat...	ORPHA:2063
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Cleft upper lip, Feeding difficulties in infa...	ORPHA:50
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Cryptorchidism, Cleft palate, Microdontia	OMIM:603736
Camptobrachydactyly	Septate vagina	ORPHA:1319
Chromosome 10Q26 Deletion Syndrome	Thin upper lip vermilion, Small scrotum, Cryptorchidism, High palate, Long philtrum, Vesicoureter...	OMIM:609625
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Hypoplasia ...	ORPHA:79345
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Feeding diffi...	ORPHA:314655
3Mc Syndrome 1	Dental crowding, Supernumerary nipple, Cleft upper lip, Cleft lip, Cleft palate, Spina bifida occ...	OMIM:257920
Velocardiofacial Syndrome	Posterior embryotoxon, Short stature, Underdeveloped nasal alae, Aggressive behavior, Velopharyng...	OMIM:192430
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Small scrotum, Cryptorchidism, S...	OMIM:612651
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Rhizomelia, Depressed nasal ridge, Short nose	ORPHA:2831
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, High palate	ORPHA:98913
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chr...	ORPHA:457279
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain	ORPHA:370348
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ...	OMIM:267000
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Disproport...	OMIM:200600
Hypoadrenocorticism, Familial	Feeding difficulties in infancy, Cyanosis, Vomiting	OMIM:240200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Letterer-Siwe Disease	Stomatitis, Abdominal distention, Jaundice	OMIM:246400
Glycogen Storage Disease Ib	Proteinuria, Short stature, Nephrolithiasis, Oral ulcer, Focal segmental glomerulosclerosis, Infl...	OMIM:232220
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Prominent nasal bridge, Micrognathia, Postnatal growth retardation, Broad nasal ti...	OMIM:300749
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Short stature, Intestinal malrotation, Anteverted nares, Micrognathia, ...	OMIM:244450
Frontorhiny	Encephalocele, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Mi...	ORPHA:391474
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Cataract, Short stature, Depressed nasal bridge, Telangiectasia of the ski...	OMIM:616007
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Cleft palate	OMIM:164180
Combined Oxidative Phosphorylation Deficiency 25	Short stature, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Feeding difficulties,...	OMIM:616430
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Short philtrum, Gastr...	OMIM:210710
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula	ORPHA:77298
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Epistaxis, Dyspnea, Chr...	ORPHA:340
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Short stature, Hypospadias, Feeding difficulties in infancy, Submucous cleft hard palate, Chordee...	OMIM:618891
Opsismodysplasia	Rhizomelia, Anteverted nares, Depressed nasal bridge, Renal phosphate wasting, Disproportionate s...	OMIM:258480
Witteveen-Kolk Syndrome	Feeding difficulties in infancy, High, narrow palate, Anisocoria, Male urethral meatus stenosis, ...	OMIM:613406
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Bile duct proliferation, Cleft palate	OMIM:607361
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age...	OMIM:308205
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria	OMIM:602199
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Cryptorchidism, ...	OMIM:241410
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename...	ORPHA:1452
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,...	OMIM:608156
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Bruising susceptibilit...	ORPHA:561
Cerebrooculonasal Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Postnatal growth retardation,...	OMIM:605627
Neu-Laxova Syndrome 1	Renal agenesis, Spina bifida, Cleft upper lip, Swollen lip, Bifid uterus, Cryptorchidism, Thick l...	OMIM:256520
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, ...	OMIM:617053
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Smooth philtrum	OMIM:618109
Alkuraya-Kucinskas Syndrome	Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, High palate, Micropenis, Short ...	OMIM:617822
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator...	OMIM:614748
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short no...	ORPHA:2983
Rin2 Syndrome	Irregular dentition, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchid...	ORPHA:217335
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Over...	OMIM:619142
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Corneal e...	OMIM:609460
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Glandular hypospadias	OMIM:620306
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Pancreatic hyperplasia, Nephrol...	OMIM:130650
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Vomiting, Abdominal pain	ORPHA:464453
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Pleural ef...	ORPHA:314478
Distal Duplication 5Q	Short stature, Hypospadias, Prominent nasal bridge, Micrognathia, Carious teeth, Thin vermilion b...	ORPHA:96097
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening	OMIM:241310
Ethylmalonic Encephalopathy	Diarrhea, Acrocyanosis, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Meier-Gorlin Syndrome 3	Microretrognathia, Short stature, Hypospadias, Prominent nasal bridge, Micrognathia, Hypoplasia o...	OMIM:613803
Noonan Syndrome 13	Duplicated collecting system, Cryptorchidism, Wide mouth, High palate, Widely spaced teeth, Gastr...	OMIM:619087
Lig4 Syndrome	Cryptorchidism, Hypoplasia of penis, Thin vermilion border, Malabsorption	ORPHA:99812
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Microphthalmia, Syndromic 5	Cryptorchidism, Micropenis, Cleft palate, Ectopic posterior pituitary	OMIM:610125
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Atelosteogenesis Type Ii	Thin upper lip vermilion, Bilateral cleft palate, Rhizomelia, Micrognathia, Cleft palate, Rhizome...	ORPHA:56304
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Cataract, Short stature, Depressed nasal bridge...	OMIM:268400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Narrow...	ORPHA:83617
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Proportionate short stature, Micrognathia, Wide nasal bridge, Feeding dif...	OMIM:613457
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,...	ORPHA:90794
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Short stature, Anteverted nares, Accessory oral f...	ORPHA:1308
Diamond-Blackfan Anemia	Short stature, Hypospadias, Cleft soft palate, Micrognathia, Depressed nasal bridge, Cleft lip, D...	ORPHA:124
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Ec...	OMIM:601552
Orofaciodigital Syndrome Type 10	Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ...	ORPHA:2756
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downturned corners of mouth, Wide mo...	OMIM:618590
Johanson-Blizzard Syndrome	Colonic diverticula, Clitoral hypertrophy, Hypospadias, Urethrovaginal fistula, Malabsorption, Se...	OMIM:243800
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Micropenis, Recurrent pneumonia, Hypospadias	OMIM:607143
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia...	ORPHA:2095
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Gastritis, Nausea, Renal tubular epithelial necrosis, Renal tubula...	ORPHA:31826
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Ketonuria, Methylmalonic aciduria	OMIM:251110
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Prematurely ag...	OMIM:601812
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Short stature, Short mandibular rami, Dental crowding, Persistence of p...	OMIM:170390
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Neu-Laxova Syndrome	Cataract, Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cleft hard ...	ORPHA:2671
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Meier-Gorlin Syndrome 6	Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Underdeveloped...	OMIM:616835
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, Exaggerated cupid's bow, High palate, Death in childhood	OMIM:620316
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Short stature, Trismus, Submucous cleft hard palate	OMIM:609166
Bdv Syndrome	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:619326
Distal 17P13.1 Microdeletion Syndrome	Prominent nasal bridge, High palate, Hypoplasia of the zygomatic bone, Increased overbite, Retrog...	ORPHA:319171
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Stridor, Nephrotic syndrom...	ORPHA:505248
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Thin vermilion border, Hypogonadism, De...	OMIM:300869
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Thin upper lip vermilion, Small scrotum, Cryptorchidism, Short philtrum, Microphallus, Micropenis	OMIM:300486
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Short stature, Long philtrum	OMIM:300887
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Deep philtrum, High palate, Tongue fasciculations, Ambiguous genitalia, Micropeni...	OMIM:614969
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Necrotizing Enterocolitis	Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting	ORPHA:391673
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Short stature, Postnatal growth retardation, Generalized aminoaciduria...	ORPHA:289157
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Disproportionate short-trunk short stature, Protuberant abdomen	OMIM:613330
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Renal cyst, Cleft palate, Bile duct proliferation	OMIM:611134
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Feeding difficul...	ORPHA:1764
Lathosterolosis	Cataract, Anteverted nares, Micrognathia, Myelomeningocele, Gingival overgrowth, Horseshoe kidney...	OMIM:607330
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Cryptorchidism, Renal salt wasting	OMIM:614736
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Ring Chromosome 12 Syndrome	High, narrow palate, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Breast hypoplasia	ORPHA:1439
Cornelia De Lange Syndrome	Hypoplasia of penis, Micrognathia, Feeding difficulties in infancy, Downturned corners of mouth, ...	ORPHA:199
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Gastro...	OMIM:619472
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Hypospadias, Tracheomalacia	OMIM:217980
Colchicine Poisoning	Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest	ORPHA:31824
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Renal hypoplasia/aplasia, Tracheoesophageal fistu...	ORPHA:958
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Cryptorchidism, Urethral stenosis, Pulmonary fibrosis, Oral leukoplakia	OMIM:613990
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Blepharonasofacial Malformation Syndrome	Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
19P13.12 Microdeletion Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Cleft palate, Thin vermilion border, Hypodontia,...	ORPHA:254346
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Deep philtrum, Cleft palate, Do...	ORPHA:404440
Fanconi Anemia, Complementation Group P	Cryptorchidism, Pelvic kidney, Horseshoe kidney	OMIM:613951
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Esophageal stricture, Pneumothorax, Xerostomia, Bronchiec...	ORPHA:99921
Bacterial Toxic-Shock Syndrome	Respiratory distress, Recurrent urinary tract infections, Renal insufficiency, Sinusitis, Glomeru...	ORPHA:36234
Stickler Syndrome	Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Depressed nasal ridge, ...	ORPHA:828
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Exaggerated cupid's bow, Abnormality of the dentition, Cryptorchidism, Downt...	ORPHA:284160
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Mic...	ORPHA:293967
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Vomiting, Short philtrum, High palate, Tics, Compulsive behaviors, Micropeni...	OMIM:619475
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis, Cyanosis, Hepatic failure	OMIM:261680
Frontometaphyseal Dysplasia	Ureteral obstruction, Urethral stenosis, Cleft palate, Hydronephrosis, Oligodontia, Spina bifida ...	ORPHA:1826
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Anteverted nares, Spina bifida, Hiatus hernia, Postnatal ...	OMIM:304050
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyuria, Cryptorchidism, Recurrent upper respiratory tract infections, Hematoc...	OMIM:618183
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid...	OMIM:251100
Stuve-Wiedemann Syndrome 1	Pursed lips, Death in infancy, Short stature, Anteverted nares, Micrognathia, Carious teeth, Feed...	OMIM:601559
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Septate vagina, Persistence of primary teeth, Cryptorchid...	OMIM:300166
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of...	OMIM:309801
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Peho Syndrome	Anteverted nares, Short nose, Gingival overgrowth, Feeding difficulties, Abnormal upper lip morph...	ORPHA:2836
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Hypoplasia of teeth, Growth delay, Microcornea, Keratoconjunctivitis sicca, Sho...	OMIM:234050
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Cryptorchidism, Cleft palate, Thin vermilion border,...	OMIM:614294
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Hypogonadotropic hypogonadism, Diastema, Agenesis of molar, Supernumerary tooth, Cry...	OMIM:619718
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Depressed nasal bridge, Micrognathia, Bulbous nose, Growth delay, Seve...	OMIM:614114
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micrognathia, Epispadias, Abnormality of the gingiva, High, narrow palate, D...	ORPHA:3107
Ehlers-Danlos Syndrome, Classic Type, 1	Short stature, Poor wound healing, Ectopia lentis, Irregularly spaced teeth, Recurrent sinusitis,...	OMIM:130000
Holoprosencephaly	Hypoplasia of penis, Feeding difficulties in infancy, Deep philtrum, Depressed nasal ridge, Absen...	ORPHA:2162
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too...	OMIM:305100
Thanatophoric Dysplasia, Type I	Neonatal death, Lethal short-limbed short stature, Disproportionate short-limb short stature, Pro...	OMIM:187600
Cocaine Intoxication	Respiratory distress, Proteinuria, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Hematur...	ORPHA:90068
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Small scrotum, External genital hypop...	ORPHA:398069
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Cleft upper lip, Cryp...	OMIM:612530
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Cataract, Nephrobla...	ORPHA:77301
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border...	OMIM:612938
Fg Syndrome 3	Pyloric stenosis, Death in infancy, Cryptorchidism	OMIM:300406
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, Vesicour...	ORPHA:261537
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Thin vermilion border, Disproportionate short-limb short stature	OMIM:602557
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Submucous cleft ...	ORPHA:2751
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Thin upper lip vermilion, Dental crowding, Hypospadias, Bilateral cryptorchidism, Cryptorchidism,...	OMIM:300998
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Death in childhood, Cryptorchidism, Micropenis, Dysphagia	OMIM:619847
Mowat-Wilson Syndrome	Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmoti...	ORPHA:2152
Laryngotracheoesophageal Cleft	Impaired oropharyngeal swallow response, Cyanosis, Choking episodes	ORPHA:2004
Occipital Horn Syndrome	Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Long philtrum, Hydronephr...	OMIM:304150
Ohdo Syndrome, X-Linked	Small scrotum, Hiatus hernia, Shawl scrotum, Cryptorchidism, Thin vermilion border, High palate, ...	OMIM:300895
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract...	ORPHA:163976
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Aminoaciduria, Vomiting, Protein-losing enteropathy, Hypospadias...	OMIM:619991
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Depressed nasal bridge, Rhizomelia, Stillbirth, Protuberant abdomen, Neonatal short-limb short st...	OMIM:151210
X-Linked Mandibulofacial Dysostosis	Short stature, Prominent nasal bridge, Micrognathia, Branchial anomaly, Hypoplasia of the zygomat...	ORPHA:1131
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Iris coloboma, ...	ORPHA:955
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Intestinal malrotation, Hypospadias, Cleft upper lip, Pyloric ste...	OMIM:305450
Acrocardiofacial Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate...	ORPHA:2008
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Renal interst...	ORPHA:93126
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome...	OMIM:278000
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Global Developmental Delay With Speech And Behavioral Abnormalities	Thin upper lip vermilion, Supernumerary nipple, Precocious puberty, Cryptorchidism, Anal atresia	OMIM:619243
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal dental morphology,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal dental morphology,...	ORPHA:363958
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Papillary cy...	OMIM:180849
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Oliguria, Rhinitis, Mic...	ORPHA:319213
Dyskeratosis Congenita	Esophageal stenosis, Short stature, Displacement of the urethral meatus, Telangiectasia of the sk...	ORPHA:1775
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Aicardi-Goutieres Syndrome 1	Short stature, Feeding difficulties in infancy, Erythema, Multiple gastric polyps, Prolonged neon...	OMIM:225750
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618117
Cowden Syndrome 5	Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartom...	OMIM:615108
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis	OMIM:302960
Distal Deletion 9P	Hypospadias, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, ...	ORPHA:1642
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Wide nasal bridge, Short columel...	OMIM:613603
Native American Myopathy	Short stature, Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, Gas...	ORPHA:168572
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Campomelic Dysplasia	Irregular dentition, Hypospadias, Spina bifida, Carious teeth, Submucous cleft hard palate, Recur...	OMIM:114290
Bartsocas-Papas Syndrome 1	Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Cleft upper lip, Underdev...	OMIM:263650
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Anteverted nares, Depressed nasal bridge, Choanal atresia, Narrow palate, Cleft palate, Anteriorl...	ORPHA:1555
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Thin upper lip vermilion, Recurrent respiratory infections, Carious teeth, Bil...	OMIM:150230
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Arthrogryposis, Distal, Type 3	Short stature, Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula	OMIM:114300
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Aggressive behavior, Abnormal eating behavior, Wide mouth, Self-in...	ORPHA:293948
Tyshchenko Syndrome	Supernumerary nipple, High, narrow palate, Cryptorchidism, Cleft palate, Narrow palate, High palate	OMIM:615102
Otopalatodigital Syndrome, Type I	Short stature, Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate,...	OMIM:311300
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypospadias, ...	OMIM:166250
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate, ...	OMIM:614230
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Chronic kidney disease, Stage 5 c...	ORPHA:567546
W Syndrome	Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr...	ORPHA:2804
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Feeding difficulties in infancy, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Downtur...	ORPHA:500150
Crane-Heise Syndrome	Cryptorchidism, Hypoplasia of penis, Cleft palate	ORPHA:1512
Primary Hyperoxaluria	Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the den...	ORPHA:416
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Homocystinuria, Methylmalonic aciduria, Gastroesophageal reflux	OMIM:614857
Gaucher Disease, Type Ii	Death in infancy, Trismus, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dy...	OMIM:230900
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Short stature, Stereotypical hand wringing	ORPHA:289266
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:619761
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, High palate, Abnormal repetitive mannerisms, Bifid uvula, Nail-biting, Hai...	OMIM:620330
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft...	OMIM:603457
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Cataract, Depressed nasal bridge, Megalocornea, Cleft palate, Growth de...	OMIM:601353
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Anteverted nares, Phimosis, Abnormality of the dentition, Nasogastric t...	ORPHA:363611
Chromosome 18Q Deletion Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Hypospadias, Decreased response to gr...	OMIM:601808
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga...	OMIM:612289
Hydatidiform Mole	Miscarriage, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Chime Syndrome	Abnormal dental morphology, Abnormality of the kidney, Abnormality of the dentition, Supernumerar...	ORPHA:3474
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Pyloric stenosis, Narrow mouth, Cryp...	ORPHA:1606
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Tricuspid Atresia	Cyanosis	ORPHA:1209
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea, Enlarged kidney	OMIM:261740
Histiocytoid Cardiomyopathy	Cyanosis, Corneal opacity, Cleft palate, Renal cyst, Vomiting, Megalocornea, Congenital aphakia	ORPHA:137675
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Corneal opacity, Underdeveloped na...	ORPHA:920
Lethal Kniest-Like Dysplasia	Cleft palate, Severe short-limb dwarfism, Protuberant abdomen, Mesomelic/rhizomelic limb shortening	ORPHA:2347
Dravet Syndrome	Obsessive-compulsive trait, Cyanotic episode, Impulsivity	ORPHA:33069
X-Linked Acrogigantism	Diastema, Abdominal distention, Polyphagia, Delayed puberty	ORPHA:300373
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Feeding difficulties, High palate, Dysphagia, Short nos...	OMIM:617527
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Nausea	ORPHA:100086
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Proximal renal tubular acidosis	OMIM:615824
Mietens Syndrome	Wide nose, Severe short stature, Corneal opacity, Cataract, Sclerocornea, Wide nasal bridge, Micr...	ORPHA:2557
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea, Malabsorption	OMIM:600705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Hydronephrosis, Micropenis, D...	OMIM:615287
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Cleft palate, High palate, Short philtrum, Dysphagia, Ureteropelvic junction ...	OMIM:616973
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Prominent nose, Deep philtrum, Facial eryth...	OMIM:619503
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, 3-Methylglutaconic aciduria, Recurrent pneumonia	OMIM:616271
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Short st...	OMIM:617402
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Orofaciodigital Syndrome I	Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancreatic cy...	OMIM:311200
Biotinidase Deficiency	Respiratory distress, Organic aciduria, Apnea, Hyperventilation	ORPHA:79241
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Micrognathia, Prominent nose, Feeding difficulties, High palate, Hyperplasia of the maxilla	OMIM:620194
Pseudoleprechaunism Syndrome, Patterson Type	Prominent nose, Abnormal mandible condylar process morphology, Abnormal ethmoid bone morphology, ...	ORPHA:2976
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardation, Short nose	OMIM:300863
Ring Chromosome 7 Syndrome	Mandibular prognathia, Short stature, Hypospadias, Anteverted nares, Prominent nasal bridge, Wide...	ORPHA:1449
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia	OMIM:620073
Hereditary Bullous Dystrophy, Macular Type	Cataract, Short stature, Corneal opacity, Growth delay, Acrocyanosis	ORPHA:1867
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil...	ORPHA:228396
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Short stature, Anteverted nares, Depressed nasal bridge, Aggressive behavior, Celiac di...	ORPHA:293987
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, Hypospadias...	OMIM:312870
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Weill-Marchesani Syndrome 1	Cataract, Short stature, Depressed nasal bridge, Proportionate short stature, Ectopia lentis, Hyp...	OMIM:277600
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Urinary incontinence	ORPHA:309256
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Death in childhood, 3-Methylglutaconic aciduria, Long philtrum, Neon...	OMIM:614052
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis, Hypoplastic nipples, Long philtr...	OMIM:312830
Hereditary Spherocytosis	Growth delay, Abdominal distention, Jaundice, Abdominal pain	ORPHA:822
Rhombencephalosynapsis	Microretrognathia, Aganglionic megacolon, Anteverted nares, Esophageal atresia, Abnormal renal mo...	ORPHA:59315
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Precocious puberty, Cryptorchidism, Deep philtrum, Abnormality of the anterior ...	ORPHA:438213
Cowden Syndrome 6	Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartom...	OMIM:615109
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry...	OMIM:600901
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Cryptorchidism, Pulmonary hypoplasia, Cleft palate	ORPHA:994
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:617690
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Toriello-Carey Syndrome	Short stature, Aganglionic megacolon, Micrognathia, Postnatal growth retardation, Feeding difficu...	ORPHA:3338
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcin...	ORPHA:534
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Smo...	ORPHA:1778
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting	OMIM:620233
Warburg Micro Syndrome 2	Cataract, Prominent nasal bridge, Postnatal growth retardation, Developmental cataract, Microcorn...	OMIM:614225
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle...	OMIM:619122
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect...	ORPHA:538
Walker-Warburg Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Submucous cleft hard palate, Cleft palate, Microc...	ORPHA:899
Greenberg Dysplasia	Rhizomelia, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large placenta, Depr...	OMIM:215140
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Limbal...	ORPHA:100050
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Depressed nasal ridge, Gastroesophageal reflux, High palate, Short p...	OMIM:618332
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Cataract, Corneal opacity, Hypoplasia of the maxilla, Recurrent upper respiratory trac...	ORPHA:2399
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Keratoconjunctivitis sicca, Colitis...	ORPHA:309031
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Keratitis, High palate, Conjun...	OMIM:123500
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short stature, Convex nasal ridge, Prematurely aged appearance, Abnormality of the dentition, Mic...	ORPHA:90154
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short stature, Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose,...	ORPHA:1185
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,...	OMIM:263520
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Van Den Ende-Gupta Syndrome	Dental crowding, Depressed nasal bridge, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, H...	OMIM:600920
Lateral Meningocele Syndrome	Neurogenic bladder, Dental crowding, Cryptorchidism, Meningocele, Cleft palate, High palate, Long...	OMIM:130720
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Thin upper lip vermilion, Dental crowding, Anteverted nares, Choanal atresia, Narrow nose, Cleft ...	OMIM:301044
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias	OMIM:250790
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Conjunctival hyperemia, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Short stature, Hypoplasia of the maxilla, Malar flattening, Abnormally prominent ...	OMIM:109120
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Cryptorchidism, Pulmonary hypoplasia, Narrow mouth, Neonatal death	OMIM:224410
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Accessory oral frenulum, Anencephaly, Cleft palate, Pulmonary hypoplasia, Po...	OMIM:616546
Lig4 Syndrome	Cryptorchidism, Micropenis, Recurrent respiratory infections, Amenorrhea	OMIM:606593
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Small scrotum, Abnormality of the dentition, Conical tooth, Cryptorchidism, Hypogo...	ORPHA:228390
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia, Feeding difficulties	ORPHA:1129
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Hypospadias, Abnorm...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Hypospadias, Abnorm...	ORPHA:353277
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Multiple glomerular cysts, Apnea, Dyspnea, Episodic respiratory...	ORPHA:255210
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Dental crowding, Impulsivity, Prominent nose, Aggressive behavior, High, nar...	OMIM:300967
Idiopathic Hypereosinophilic Syndrome	Cutis marmorata, Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Malabsorp...	ORPHA:3260
Prolidase Deficiency	Recurrent cystitis, Depressed nasal bridge, Micrognathia, Carious teeth, Erythema, Depressed nasa...	ORPHA:742
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermilion, Proximal r...	ORPHA:2785
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Abnormality of the kidney, Cryptorchidism, Tented philtrum, Dysphagia, Thin vermil...	ORPHA:495818
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, ...	OMIM:618820
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Sta...	ORPHA:805
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, High palate, Hyp...	ORPHA:251066
Plaa-Associated Neurodevelopmental Disorder	Tented upper lip vermilion, Micrognathia, Feeding difficulties, High palate, Long philtrum, Impai...	ORPHA:521426
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Feeding difficulties, Microcornea, Bladder diverticulum, Umbilical hernia, Bru...	OMIM:614557
Meier-Gorlin Syndrome 1	Death in infancy, Clitoral hypertrophy, Cryptorchidism, Hypoplastic labia minora, Emphysema, Clef...	OMIM:224690
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla	OMIM:183400
Limb-Mammary Syndrome	Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Primary amenorrhea, Bilateral breast h...	ORPHA:69085
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Weiss-Kruszka Syndrome	Anteverted nares, Exaggerated cupid's bow, Feeding difficulties, Short nose, Broad philtrum	OMIM:618619
Ulnar-Mammary Syndrome	Anal stenosis, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Pyloric...	OMIM:181450
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Multiple pterygia, Micrognathia	OMIM:601809
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, Vesicour...	ORPHA:261552
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Cryptorchidism, Non-midline clef...	ORPHA:1300
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Monosomy 9P	Hypospadias, Abnormality of the dentition, Cryptorchidism, Cleft palate, High palate, Narrow mout...	ORPHA:261112
Cog5-Cdg	Neurogenic bladder, Urinary incontinence, Cryptorchidism, High palate, Micropenis	ORPHA:263487
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Eso...	OMIM:227646
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Dental crowding, Hypospadias, Open bite, Cryptorchidism, Horseshoe kidney, High palate, Congenita...	OMIM:620083
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Proportionate short stature, Trismus, Deep philtrum, De...	OMIM:227330
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-El...	ORPHA:100078
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Broad nasal tip,...	OMIM:614207
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt...	ORPHA:79282
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Cryptorchidism, Dental malocclusion, Absence of labia majora, Cleft palate, Downturn...	OMIM:265000
Uruguay Faciocardiomusculoskeletal Syndrome	Wide nose, Prominent nose, Thick vermilion border, Everted lower lip vermilion, Retrognathia, Hyp...	OMIM:300280
Intellectual Developmental Disorder, Autosomal Dominant 47	Supernumerary nipple, Cryptorchidism, Wide mouth, Gastroesophageal reflux, Widely-spaced incisors	OMIM:617635
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Jaundice, Gastrointestinal inflammation, Dermatographic urt...	ORPHA:186
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Penile freckling, High palate, Long philtrum, Short nose	OMIM:605309
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Jacobsen Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Microcorne...	OMIM:147791
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Cryptorchidism, Orofacial cleft, Thin vermilion border, Everted lower lip vermili...	ORPHA:1519
X-Linked Intellectual Disability, Snyder Type	Dental crowding, Hypospadias, Ectopic kidney, Cryptorchidism, Thick lower lip vermilion, Cleft pa...	ORPHA:3063
Congenital Myopathy 9A	Cryptorchidism, Tongue fasciculations, Death in infancy	OMIM:618822
Combined Oxidative Phosphorylation Defect Type 23	Feeding difficulties in infancy, Cyanosis	ORPHA:444013
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Hypoxemia, High palate, Hypoplasia of the zygomatic bone, Soli...	ORPHA:556955
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Urinary incontinence	ORPHA:309263
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Malar...	ORPHA:93259
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Hypospadias, Apnea, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Et...	ORPHA:17
Waardenburg Syndrome Type 3	Narrow nasal bridge, Acrocyanosis, Tented upper lip vermilion	ORPHA:896
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Death in infancy, Cyanosis, Hypospadias, Feeding difficulties in ...	OMIM:252010
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Long nose, Bulbous nose, Disproportionate...	ORPHA:508533
Dyggve-Melchior-Clausen Disease	Hyperactivity, Severe short stature, Rhizomelia, Corneal opacity, Recurrent upper respiratory tra...	ORPHA:239
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognath...	OMIM:616462
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Faciocardiorenal Syndrome	Horseshoe kidney, Cleft palate, Hypodontia, Narrow mouth, Smooth philtrum	ORPHA:1973
Coffin-Lowry Syndrome	Mandibular prognathia, Wide nose, Short stature, Anteverted nares, Cutis marmorata, Rectal prolap...	OMIM:303600
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Mandibular prognathia, Severe short stature, Hypospadias, Abnormal den...	ORPHA:2658
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Abdominal distention, Bloody diarrhea, Intestinal atresia, Rectal abscess...	ORPHA:436252
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Disproportionate short stature, Severe short stature	ORPHA:93352
Wiedemann-Rautenstrauch Syndrome	Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature loss of...	ORPHA:3455
X-Linked Intellectual Disability, Pai Type	Hydrocele testis, Cryptorchidism, Recurrent respiratory infections, Narrow mouth	ORPHA:85322
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Short stature, Anteverted nares, Abnormal large intestine morpho...	ORPHA:109
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H...	OMIM:241080
Spondylocarpotarsal Synostosis Syndrome	Cataract, Anteverted nares, Broad nasal tip, Disproportionate short-trunk short stature, Cleft pa...	OMIM:272460
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia	ORPHA:363741
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Micrognathia, Facial telangiectasia, Short nose	OMIM:615851
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Vomiting	ORPHA:677
Familial Glucocorticoid Deficiency	Recurrent urinary tract infections, Renal salt wasting, Precocious puberty, Cryptorchidism, Testi...	ORPHA:361
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Monosomy 22Q13.3	Renal dysplasia, Dental crowding, Dental malocclusion, Gastroesophageal reflux, Vesicoureteral re...	ORPHA:48652
Pterygium Colli, Isolated	Short nose	OMIM:177990
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Anencephaly, Urogenital sinus anomaly,...	ORPHA:96176
Fucosidosis	Corneal opacity, Abnormality of the dentition, Mucopolysacchariduria, Acrocyanosis, Vascular skin...	ORPHA:349
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, High palate, Short ...	OMIM:620369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Pneumonia, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nep...	ORPHA:37042
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, D-2-hydroxyglutaric aciduria, Recurrent pneumonia, Unilateral renal agenesis	ORPHA:99646
Buerger Disease	Acrocyanosis	ORPHA:36258
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cleft lip, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Broad alveolar ...	OMIM:616975
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ...	ORPHA:740
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria, Cyanosis, Hepatic failure	ORPHA:159
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Carpenter Syndrome	Abnormal reproductive system morphology, Cryptorchidism, Umbilical hernia, External genital hypop...	ORPHA:65759
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short stature, Depressed nasal bridge, Abnormali...	OMIM:601088
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Pitt-Hopkins Syndrome	Supernumerary nipple, Cryptorchidism, Deep philtrum, Micropenis, Wide mouth, Short philtrum, Wide...	OMIM:610954
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Urinary incontinence, Bowel incontinence	ORPHA:309271
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Cryptorchidism, Dental malocclusion, Renal cyst, High palate...	OMIM:102500
Craniofrontonasal Syndrome	Hypospadias, Abnormality of the dentition, Cleft upper lip, Cryptorchidism, Cleft palate, Shawl s...	OMIM:304110
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Abdominal distention, Secretory diarrhea	OMIM:214700
Cowden Syndrome 1	Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartom...	OMIM:158350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Cataract, Short stature, Hypospadias, Anteverted nares, Micrognathia, H...	ORPHA:444077
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Growth delay, High palate, Hypoplasia of the zygomatic bone, Long philtru...	OMIM:618500
Primary Sjögren Syndrome	Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Bronchitis, Lymphocytic inter...	ORPHA:289390
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Hyperactivity, Short stature, Hypospadias, Depressed nasal bridge, Micr...	OMIM:309590
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Tented philtrum, Absence of labia majora, ...	ORPHA:495875
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnormality of the dentition...	ORPHA:90321
Prader-Willi Syndrome	Thin upper lip vermilion, Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypog...	OMIM:176270
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Cryptorchidism, Renal cyst, Cleft palate, Death in adolescence, Hi...	OMIM:614866
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux	ORPHA:140952
Q Fever	Respiratory distress, Pneumonia, Hematuria, Cough, Pleural effusion	ORPHA:781
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone,...	OMIM:613717
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Tented upper lip vermilion, Small scrotum, External genital hyp...	OMIM:614231
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long philtrum,...	OMIM:608149
Proteasome-Associated Autoinflammatory Syndrome 1	Short stature, Progeroid facial appearance, Prominent nose, Thick lower lip vermilion, Recurrent ...	OMIM:256040
Hypotonia, Ataxia, And Delayed Development Syndrome	Thin upper lip vermilion, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Downturned co...	OMIM:617330
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Distal Deletion 15Q	Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Abnormality of the dentition...	ORPHA:1596
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose	OMIM:618087
Aymé-Gripp Syndrome	Thin upper lip vermilion, Cataract, Short stature, Proteinuria, Depressed nasal bridge, Megalocor...	ORPHA:1272
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Rhizomelia, Anteverted nares, Depressed nasal bridge, Abnormality of the d...	OMIM:271510
Coffin-Siris Syndrome 12	Hypospadias, Short stature, Prominent nasal bridge, Micrognathia, Celiac disease, Anteverted nare...	OMIM:619325
Hatipoglu Immunodeficiency Syndrome	Cryptorchidism, Hypospadias, Recurrent bronchitis	OMIM:620331
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Narrow mouth	ORPHA:1865
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry...	OMIM:227645
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Gingival fibromatosis, Alve...	OMIM:602398
Mosaic Trisomy 20	Abnormality of the kidney, Cryptorchidism, Cleft lip, Cleft palate, Horseshoe kidney	ORPHA:1724
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Cryptorchidism, Meningoencephalocele, Cleft palate, Hyp...	OMIM:236670
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Disproportionate short-limb short stature	OMIM:618618
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Autosomal Recessive Faciodigitogenital Syndrome	Short stature, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, ...	ORPHA:1974
Saethre-Chotzen Syndrome	Short stature, Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Open bi...	ORPHA:794
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, ...	ORPHA:306542
Arterial Tortuosity Syndrome	Keratoconus, Prematurely aged appearance, Telangiectasia of the skin, Hiatus hernia, Abnormal zyg...	ORPHA:3342
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis	OMIM:250800
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Denta...	OMIM:182212
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Hypospadias, Cryptorchidism, Deep philtrum, Downturned corners ...	ORPHA:163956
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Asthma, Pelvic kidney, Nasal flaring	ORPHA:466943
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, High palate, Co...	OMIM:614437
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypospadias	OMIM:123790
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Polyu...	OMIM:606721
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Rhizomelia...	ORPHA:93357
Geroderma Osteodysplasticum	Mandibular prognathia, Severe short stature, Progeroid facial appearance, Hypoplasia of the maxil...	OMIM:231070
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Aneurysm Of Sinus Of Valsalva	Dyspnea, Oliguria, Cough	ORPHA:1054
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Cryptorchidism, Wide mouth, High palate, Short philtrum, Micropenis	OMIM:620224
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Cleft upper lip, Cleft palate, Wide mouth, Short nose, Broad philtrum	ORPHA:1394
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo...	ORPHA:1521
Pyknoachondrogenesis	Abdominal distention, Abnormality of mouth shape, Craniofacial hyperostosis, Depressed nasal ridge	ORPHA:3003
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Tented upper lip vermilion, Short stature, Depressed nasal bridge, Thick vermilion border, Malar ...	OMIM:616723
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Asbestos Intoxication	Hypoxemia, Cyanosis, Oxygen desaturation on exertion	ORPHA:2302
X-Linked Intellectual Disability, Seemanova Type	Hypogonadism, Cryptorchidism, High palate	ORPHA:85323
Jaberi-Elahi Syndrome	Triangular mouth, Cataract, Depressed nasal bridge, Short nose	OMIM:617988
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Branchiooculofacial Syndrome	Micrognathia, Renal cyst, Premature graying of hair, Gastroesophageal reflux, Iris coloboma, Hypo...	OMIM:113620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal growth retardat...	ORPHA:536467
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Pyelonephritis, Respiratory failure, Acute kidney i...	ORPHA:533
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis, Vaginal atresia	OMIM:248450
Femoral-Facial Syndrome	Thin upper lip vermilion, Short stature, Renal agenesis, Abnormal renal collecting system morphol...	OMIM:134780
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Prader-Willi Syndrome	Recurrent respiratory infections, Small scrotum, Decreased response to growth hormone stimulation...	ORPHA:739
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Repetitive compulsive behavior, Feeding difficulties, Self-biting, Gast...	ORPHA:522077
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Growth delay, Macroglossia, Constipation, ...	OMIM:218700
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Wide...	ORPHA:1827
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm...	ORPHA:2232
Dend Syndrome	Anteverted nares, Downturned corners of mouth, Vomiting, Long philtrum, Short nose	ORPHA:79134
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Cleft palate, Stillbirth, Narrow mouth, Umbilical hern...	OMIM:304120
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid glan...	OMIM:154500
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hypospadias, Cryptorchidism, Wide mouth, Umbilical hernia, Duodenal atr...	OMIM:618846
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Feeding difficulties in infancy, Depressed nasal ridge, Orofacial cleft, Gastroes...	OMIM:607872
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Severe short stature, Micrognathia, Prominent nose, Long nose, Bulbous nose, Submucous cleft hard...	ORPHA:3047
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Narrow nasal bridge, Peripheral opacification of the cornea, Short sta...	OMIM:259600
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Wolf-Hirschhorn Syndrome	Hypospadias, Cleft upper lip, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cle...	OMIM:194190
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Anteverted nares, Depressed nasa...	OMIM:613458
Roberts Syndrome	Cleft upper lip, Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplas...	ORPHA:3103
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Esophageal stric...	OMIM:305000
Coccidioidomycosis	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Pneumonia, Abnormality of t...	ORPHA:228123
Mucolipidosis Type Ii	Short stature, Depressed nasal bridge, Postnatal growth retardation, Gingival overgrowth, Protube...	ORPHA:576
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Thin upper lip vermilion, Abnormality of the dentition, Cyst of the ductus choledochus, Gingival ...	ORPHA:480880
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormality of the temporomandibular joint, Short stature, Anteverted nare...	ORPHA:536471
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Gitelman Syndrome	Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointer...	ORPHA:358
Mesomelia-Synostoses Syndrome	Short umbilical cord, Hydronephrosis, Absent uvula	OMIM:600383
Osteogenesis Imperfecta, Type Vii	Death in infancy, Hydronephrosis	OMIM:610682
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Protruding tongue, Cryptorchidism, Pulmonary artery hypoplasia, High pala...	OMIM:300963
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Cyanosis, Renal cyst	OMIM:617478
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Short stature, Anteverted nares, Depressed nasal bridge, Abdomin...	OMIM:619534
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, Cryptorchidism, Cleft...	OMIM:617137
Noonan Syndrome With Multiple Lentigines	Hypospadias, Cryptorchidism, Decreased fertility, Abnormal localization of kidney, Spina bifida o...	ORPHA:500
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Feeding diff...	ORPHA:513456
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Deep philtrum	ORPHA:1237
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Enlarged kidney, Renal agenesis, Horseshoe kidney	OMIM:306955
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Downturned corners of mouth, Chor...	OMIM:616728
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Supernumerary nipple, Cryptorchidism, Deep philtrum, Everted lower lip ...	OMIM:613884
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal infarctions, Period...	ORPHA:286
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Cataract, Short stature, Prominent nasal bridge,...	OMIM:139210
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries	OMIM:615363
Hartsfield Syndrome	Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Gonadotropin deficiency, Cleft pa...	OMIM:615465
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Precocious puberty, Cry...	OMIM:616682
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat...	ORPHA:287
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Abnormality of the dentition, Cryptorchidism, Cleft p...	OMIM:151050
Acute Interstitial Pneumonia	Hypoxemia, Cyanosis	ORPHA:79126
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Postnatal growth retardation, Thin vermilion border, Hypoplasia of the zygomatic b...	OMIM:614800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Feeding difficulties, Gastroesophageal reflux, Vomiting, Death in chi...	OMIM:618426
Acquired Purpura Fulminans	Acrocyanosis, Hepatic failure, Macular purpura	ORPHA:49566
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis	ORPHA:860
Tolchin-Le Caignec Syndrome	Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Attent...	OMIM:618971
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu...	OMIM:301043
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Telangiectasia, Hypoxemia, Gastrointestinal infarctions	ORPHA:2038
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Corneal dystrophy, Hypoplasia of the maxilla, High, narrow palate, Long ph...	ORPHA:1101
Dominant Beta-Thalassemia	Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Diarrhea, Jaundice, Feedi...	ORPHA:231226
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Thin upper lip vermilion, Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypog...	ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypogonadism, Anterior pituitar...	ORPHA:98754
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormality of the philtrum, Hypospadias, Abnormality of the ki...	ORPHA:280
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Tented upper lip vermilion, Short stature, Depressed nasal bridge, Abnormality of the dentition, ...	ORPHA:457395
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Hypospadias, Supernumerary nipple, Abnormality of canine, Cryptorchidis...	ORPHA:477993
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis	OMIM:265120
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, Hamartoma of tongue	ORPHA:1338
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Downturned corners of mouth, Short stature, Hypospadias, Anteverted nares, Depresse...	OMIM:264090
X-Linked Intellectual Disability, Armfield Type	Cryptorchidism, Cleft palate, Downturned corners of mouth, Wide mouth, Aminoaciduria, Organic aci...	ORPHA:85276
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Myasthenia Gravis	Acrocyanosis, Dysphagia, Glycosuria	ORPHA:589
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anorexia, Abdominal pa...	ORPHA:48435
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent urinary tract infections, Urinary incontinence	ORPHA:404448
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, Cleft palate,...	OMIM:607812
Kbg Syndrome	Tented upper lip vermilion, Macrodontia, Epispadias, Cryptorchidism, Widely-spaced maxillary cent...	OMIM:148050
Mend Syndrome	Cryptorchidism, Crossed fused renal ectopia, High palate, Smooth philtrum	OMIM:300960
Shprintzen-Goldberg Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Gastroesophageal ...	ORPHA:2462
Neuroocular Syndrome	Cataract, Short stature, Peters anomaly, Brushfield spots, Short uvula, Submucous cleft hard pala...	OMIM:619539
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Heparan sulfate excretion in urine, 3-Methylglutaconic aciduria, Chondroiti...	OMIM:615273
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Intrauterine growth retardation, Cyanosis	ORPHA:555874
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Micropenis, Clitoral hypoplasia, Th...	OMIM:609945
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Pulmonary arterial hypertension	ORPHA:363705
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Adams-Oliver Syndrome 1	Encephalocele, Supernumerary nipple, Cleft upper lip, Pulmonary artery stenosis, Cleft palate, Im...	OMIM:100300
Pfeiffer Syndrome Type 1	Depressed nasal bridge, High palate, Short nose	ORPHA:93258
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Kasabach-Merritt Syndrome	Abdominal distention, Purpura, Petechiae, Abdominal pain	ORPHA:2330
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Microphthalmia, Syndromic 3	Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Esophageal atresia, Cr...	OMIM:206900
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl...	ORPHA:785
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Beta-Thalassemia Major	Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Diarrhea, Jaundice, Feedi...	ORPHA:231214
Distal Deletion 3P	Cryptorchidism, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, Lo...	ORPHA:1620
Criss-Cross Heart	Cyanosis, Feeding difficulties	ORPHA:1461
Leptospirosis	Respiratory distress, Cellular urinary casts, Cough, Pleural effusion, Acute kidney injury	ORPHA:509
Pseudoaminopterin Syndrome	Cryptorchidism, Orofacial cleft, Horseshoe kidney, High palate, Short philtrum, Microdontia	ORPHA:221120
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Keratoconus, Abnormality of the dentition, Malabsorption, Gastrointestinal d...	ORPHA:285
Omodysplasia 1	Rhizomelia, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Popliteal pterygium, Umbilic...	OMIM:258315
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Thick vermilion border, High palate, Long ph...	ORPHA:363700
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci...	OMIM:259900
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Dyspnea, Respiratory fa...	ORPHA:2556
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, High urinary gonadotropin level, Abnormality of the dentition, C...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, High urinary gonadotropin level, Abnormality of the dentition, C...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, High urinary gonadotropin level, Abnormality of the dentition, C...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, High urinary gonadotropin level, Abnormality of the dentition, C...	ORPHA:881
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Meconium ileus, Feeding difficulties	OMIM:617239
Roberts-Sc Phocomelia Syndrome	Cataract, Hypospadias, Corneal opacity, Micrognathia, Postnatal growth retardation, Cleft upper l...	OMIM:268300
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate	ORPHA:96129
Telangiectasia, Hereditary Hemorrhagic, Type 1	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Conjunctival telangiectasia, Cyano...	OMIM:187300
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Saethre-Chotzen Syndrome	Short stature, Hypoplasia of the maxilla, Long nose, Cleft of chin, Narrow palate, Cleft palate, ...	OMIM:101400
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Short nose, Cystic renal dysplasia, Enlarge...	OMIM:200995
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction	OMIM:100800
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Increased pulmonary vascular resistance, Wheezing, Hyp...	ORPHA:97214
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Primrose Syndrome	Hypoplasia of the maxilla, Downturned corners of mouth, High palate, Tics, Torus palatinus, Poste...	OMIM:259050
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdome...	OMIM:618019
Aspartylglucosaminuria	Mandibular prognathia, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Malab...	ORPHA:93
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Yunis-Varon Syndrome	Hypospadias, Premature loss of primary teeth, Abnormality of dental structure, High, narrow palat...	ORPHA:3472
Unilateral Polymicrogyria	Pseudobulbar paralysis, Cyanosis, Epistaxis, Nasogastric tube feeding	ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Ecchymosis, Short nose, Bruising susceptibility, Epistaxis	OMIM:277450
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Everted lower l...	ORPHA:459070
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Complete Atrioventricular Septal Defect	Cyanosis, Feeding difficulties	ORPHA:1329
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Narrow mouth, Cryptorchidism, Cleft palate, Stillbirth, High palate, Short u...	OMIM:208150
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Cyanosis, Hematuria, Hypoxemia, Oxygen desaturation on exertion	ORPHA:60025
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Opsismodysplasia	Short nose, Severe short stature, Depressed nasal bridge	ORPHA:2746
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Cryptorchidism, Labial hypertrophy, Gingival overgrowth, Macroglossia, High p...	ORPHA:96191
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Supernumerary...	ORPHA:434179
Tibial Hemimelia	Hypospadias, Cryptorchidism, Myelomeningocele, Cleft palate, Ambiguous genitalia	ORPHA:93322
Glycerol Kinase Deficiency	Downturned corners of mouth, Cryptorchidism, Increased urinary glycerol	OMIM:307030
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hypoplasia...	OMIM:164210
Noonan Syndrome 3	Hypoplastic nasal bridge, Short stature, Anteverted nares, High palate, Short nose, Bruising susc...	OMIM:609942
Carpenter Syndrome 2	Supernumerary nipple, Carious teeth, High, narrow palate, Bilateral cryptorchidism, Cryptorchidis...	OMIM:614976
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Emphysema, Pulmonary fibrosis	OMIM:620365
Noonan Syndrome 1	Male infertility, Hypospadias, High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft pa...	OMIM:163950
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Short stature, Dental crowding, Depr...	OMIM:614188
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Generalized Arterial Calcification Of Infancy	Respiratory distress, Hyperphosphaturia, Nephrocalcinosis, Cortical nephrocalcinosis, Pulmonary a...	ORPHA:51608
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Aicardi-Goutières Syndrome	Short stature, Cutis marmorata, Developmental glaucoma, Prolonged neonatal jaundice, Micropenis, ...	ORPHA:51
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Pulmonary artery dilatation, Intestinal malrotation, Hypoperistalsis	OMIM:613834
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short stature, Long philtrum, Short nose, Smooth philtrum	OMIM:614185
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Cyanosis	ORPHA:199241
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Rodrigues Blindness	Nasal flaring	OMIM:268320
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Loeys-Dietz Syndrome	High palate, Bifid uvula, Orofacial cleft, Uterine rupture	ORPHA:60030
Geleophysic Dysplasia 1	Anteverted nares, Short stature, Wide mouth, Long philtrum, Short nose, Smooth philtrum	OMIM:231050
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Concave nasal ridge, High palate, Di...	OMIM:271665
Ablepharon-Macrostomia Syndrome	Abnormal nasal morphology, Short upper lip, Anteriorly placed anus, Wide mouth, Premature skin wr...	OMIM:200110
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Fibrous Dysplasia Of Bone	Short stature, Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal ...	ORPHA:249
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation	OMIM:616749
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Double Outlet Left Ventricle	Cyanosis, Orofacial cleft	ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Lip telangiectasia, Tong...	OMIM:610655
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mouth, Long phi...	OMIM:612731
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent ...	OMIM:233450
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon	OMIM:613266
Atrial Septal Defect, Ostium Primum Type	Cyanosis	ORPHA:99106
Poems Syndrome	Acrocyanosis	ORPHA:2905
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Dermatomyositis	Telangiectasia of the skin, Feeding difficulties in infancy, Gastrointestinal stroma tumor, Eryth...	ORPHA:221
Absence Of The Pulmonary Artery	Growth delay, Cyanosis, Hypocapnia	ORPHA:980
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone	ORPHA:563612
Atrial Septal Defect, Coronary Sinus Type	Cyanosis	ORPHA:99104
Acromesomelic Dysplasia 1	Short nose, Disproportionate short stature	OMIM:602875
Aortic Arch Interruption	Feeding difficulties in infancy, Cyanosis	ORPHA:2299
Atrial Septal Defect, Ostium Secundum Type	Cyanosis	ORPHA:99103
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Yunis-Varon Syndrome	Thin upper lip vermilion, Cataract, Hypospadias, Anteverted nares, Premature loss of primary teet...	OMIM:216340
Truncus Arteriosus	Intrauterine growth retardation, Cyanosis	ORPHA:3384
Norrie Disease	Cryptorchidism, Thin vermilion border, Erectile dysfunction, Uterine rupture	ORPHA:649
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failu...	OMIM:182250
Alström Syndrome	Respiratory distress, Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter ...	ORPHA:64
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Pmm2-Cdg	Respiratory distress, Proteinuria, Nephrotic syndrome, Multiple renal cysts, Aspiration pneumonia...	ORPHA:79318
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis	ORPHA:99050
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Disproportionate short-trunk short stature	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^{tm39007(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dlg1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
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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