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Gene: Dlg1 MGI:107231

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... 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, Intestinal duplication, Uterus didelphys, Myelomeningocele, Cryptorchi... ORPHA:1756
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Humero-Radio-Ulnar Synostosis
Abnormality of the 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
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality ... ORPHA:1926
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia OMIM:618845
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... OMIM:146255
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Renal agenesis, Cryptorchidism OMIM:219050
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Cryptorchidism, Vesicoureteral re... ORPHA:3027
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Meier-Gorlin Syndrome 8
Nephroptosis, Bilateral cryptorchidism, Unilateral renal hypoplasia, Narrow mouth, Thick vermilio... OMIM:617564
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency, Narrow mouth OMIM:618681
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter ORPHA:2547
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Abnormality of the uterus, Recurrent urinary... ORPHA:2970
Bardet-Biedl Syndrome 16
Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency, Renal ... OMIM:615993
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Renal duplication, Ureteral duplication, Anal atresia, Rectovaginal fistu... OMIM:270420
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr... ORPHA:85284
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Horseshoe kidne... ORPHA:2470
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Macdermot-Winter Syndrome
Hydronephrosis, Hypoplastic male external genitalia, Death in infancy OMIM:247990
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Gastroesophageal reflux, Long philtrum, Vesicoureteral reflux, Open mouth, Hydrone... OMIM:614080
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis, Ureteral duplication, Hypospadias OMIM:617516
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Narrow mouth, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lung... ORPHA:1046
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Vesicourete... ORPHA:96169
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Bilateral renal agenesis, Vaginal atresia, Hypoplasia of the uteru... OMIM:616258
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Ne... OMIM:613390
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia OMIM:617661
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Vaginal at... OMIM:617914
Cataract 42
Cataract, Developmental cataract OMIM:115900
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Unilateral renal agenesis, Hypoplasia of the premaxilla, Intraut... ORPHA:2673
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, Attention deficit... ORPHA:217340
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia OMIM:236500
Fryns Syndrome
Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Renal agenesis, Shawl scrotum, Still... OMIM:229850
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, External genital hypoplasia, Renal insufficiency, Hydronephrosis OMIM:615996
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Enuresis, Broad nasal tip, Retrognathia, Inflexible adherence to routine... OMIM:613670
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Intestinal Dysmotility Syndrome
Cataract, Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomiting,... OMIM:620045
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Hypogonadism, Abnormal dental morphology, Cryptorchidism, Micropenis, Hypoplas... ORPHA:85274
Trichomegaly
Cataract OMIM:190330
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Noonan Syndrome 4
Dental malocclusion, Cryptorchidism, Hydronephrosis, Thick vermilion border, Ureteral duplication... OMIM:610733
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Umbilical hernia, Abnormality of the ureter, Renal hypoplasia/aplasia, Polycy... ORPHA:1770
Perching Syndrome
Depressed nasal bridge, Cyanosis, High palate, Dysphagia, Feeding difficulties OMIM:617055
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Oral ulcer, Ileitis OMIM:618287
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Diphallia
Penoscrotal transposition, Renal malrotation, Gastrointestinal duplication, Bifid scrotum, Duplic... ORPHA:227
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Renal agenesis, Long philtrum, Umbilical hernia, Cryptorchidism, Micropenis, Hy... ORPHA:171839
Pyknoachondrogenesis
Stillbirth OMIM:265880
Image Syndrome
Hypogonadism, Hydronephrosis, Hypospadias, Cryptorchidism ORPHA:85173
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Open mouth, Aplasia of the vagina ORPHA:457284
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Anteri... OMIM:618494
Mckusick-Kaufman Syndrome
Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Agangli... OMIM:236700
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Gastroesophageal reflux, Abnormal morphology of female interna... ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Thin upper lip vermilion, Smooth philtrum, Spina bifida, Shawl scrotum, Micropenis OMIM:620439
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Focal Dermal Hypoplasia
Supernumerary nipple, Cryptorchidism, Myelomeningocele, Oligodontia, Hypodontia, Ureteral duplica... OMIM:305600
46,Xy Sex Reversal 4
Renal dysplasia, Gonadal dysgenesis, Long philtrum, Ureteropelvic junction obstruction, Hydroneph... OMIM:154230
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Ambiguous geni... OMIM:615542
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Knobloch Syndrome
Bifid ureter, Vesicoureteral reflux, Occipital encephalocele, Pyloric stenosis ORPHA:1571
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Long philtrum, Gingival overgrowth, Vesicoureteral reflux, Cryptorchidism, Pseu... ORPHA:464288
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia OMIM:600151
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Death in infancy, Hypoperistalsis ORPHA:2241
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Unilateral cleft lip, ... OMIM:610828
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis, Cryptorchidism, Shawl scrotum ORPHA:2256
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Renal hypoplasia, Dental malocclusion, Bifid scrotum, Umbilical her... ORPHA:85321
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency ORPHA:281090
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
High, narrow palate, Duplication of renal pelvis, Long philtrum, Endometrial carcinoma, Ureteral ... ORPHA:457212
Noonan Syndrome 9
Hydroureter OMIM:616559
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia, Median cleft upper lip, High, narrow palate OMIM:617926
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Short stature, Cleft palate ORPHA:2015
Congenital Myopathy 19
Renal atrophy, Cryptorchidism, Hydronephrosis, High palate, Dysphagia OMIM:618578
Duplication Of Urethra
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... ORPHA:237
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malro... ORPHA:2166
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter OMIM:222300
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Mungan Syndrome
Hypoperistalsis, Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Abdominal distention, Cleft upper lip, Hyperechog... OMIM:613885
Rudiger Syndrome
Ureterovesical stenosis, Death in infancy, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Renal insufficiency, Cryptorchidism, Narrow mouth, Microdontia, P... ORPHA:1307
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Holoprosencephaly 9
Hypoplasia of the premaxilla, Bilateral cleft palate, Short hard palate, Short nose, Choanal atre... OMIM:610829
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Intrauterine growth retardation, Gingival overgrowth, Median... ORPHA:1832
Hadziselimovic Syndrome
Renal hypoplasia, Thick lower lip vermilion, High palate, Pulmonary artery atresia, Anal atresia,... OMIM:612946
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Renal hypoplasia, Long philtrum, Narrow mouth, Cryptorchid... OMIM:248700
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Thick vermilion border, Macroglossia, ... OMIM:617107
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ... ORPHA:49
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria OMIM:604273
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cy... OMIM:615982
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Hypodontia, High pal... OMIM:616854
Bladder Exstrophy
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Intestinal malro... ORPHA:93930
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Anal ... ORPHA:322
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Cloacal Exstrophy
Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Myelomeningocele, Intestinal ... ORPHA:93929
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... OMIM:614922
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis ORPHA:1074
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth OMIM:276950
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Long philtrum, C... ORPHA:1106
Knobloch Syndrome 1
Occipital encephalocele, Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting s... OMIM:267750
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Vesicoureteral reflux, Cryptorchidism, Abnormality of the pulmonary artery, Renal... ORPHA:1166
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal... ORPHA:887
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormal morphology of female i... ORPHA:3378
Silver-Russell Syndrome 1
Downturned corners of mouth, Decreased response to growth hormone stimulation test, Abnormality o... OMIM:180860
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Hao-Fountain Syndrome
Micropenis, Cryptorchidism OMIM:616863
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Dental crowding, Long philt... OMIM:609029
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Thick vermilion border,... ORPHA:500095
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis ORPHA:1471
Bowen-Conradi Syndrome
Orofacial cleft, Cryptorchidism, Death in infancy, Abnormal lung lobation ORPHA:1270
Microphthalmia, Syndromic 9
Renal hypoplasia, Agenesis of pulmonary vessels, Horseshoe kidney, Alveolar capillary dysplasia, ... OMIM:601186
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Abnormality of the urinary system, Cryptorchidism, Long philtrum ORPHA:1621
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, ... ORPHA:2704
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia OMIM:618142
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Autosomal Recessive Spondylocostal Dysostosis
Long philtrum, Abnormal morphology of female internal genitalia, Umbilical hernia, Abnormality of... ORPHA:2311
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Short uvula, Agenesis of permanent teeth, Short lingual frenulum, ... OMIM:614091
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Gastroesophageal reflux, Intrauterine growth retardation, Micrognathia, Narrow mouth, Abnormal pa... ORPHA:1495
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Downturned corners of mouth, Narrow mouth, Cryptorchidism, Oligodontia OMIM:616817
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Peutz-Jeghers Syndrome
Intestinal bleeding, Uterine neoplasm, Bladder polyp, Gastrointestinal carcinoma, Abnormality of ... OMIM:175200
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia OMIM:608572
Codas Syndrome
Hydroureter ORPHA:1458
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis OMIM:263000
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short sta... ORPHA:1355
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Myelomeningocele, Vesicoureteral reflux, Cryptorchidism, Renal dup... ORPHA:83628
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r... ORPHA:2924
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Renal dysplasia, Renal insufficiency, Death in infancy, Hydronephrosis, Long-chain... OMIM:608836
Fryns Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Non-midline cleft of the upper lip, Long p... ORPHA:2059
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Oeis Complex
Absent scrotum, Cryptorchidism, Micropenis, Duplicated collecting system, Anal atresia, Rectovagi... OMIM:258040
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Stillbirth ORPHA:294975
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal pain, Abdominal distention, Jaundice ORPHA:313906
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Renal agenesis, Abnormal uterine cervix morphology, Partial vagina... ORPHA:3411
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo... ORPHA:2473
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Cryptorchidism, Hydron... OMIM:619797
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Bifid uvula, Tooth malposit... ORPHA:96170
Small Bowel Atresia
Vomiting, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Intestinal hy... ORPHA:1201
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia ORPHA:2123
Urban-Rogers-Meyer Syndrome
Hypogonadism, Abnormality of the ureter, Cryptorchidism, Abnormality of the philtrum, Hypoplasia ... ORPHA:3409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Meckel Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, ... ORPHA:564
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Cleft lip, Natal tooth, Lobulated tongue, Hamartoma of tongue, Cryptorchidism, ... OMIM:616300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Umbilical hernia, Ureteral triplication, Hydronephrosis, High palate OMIM:104350
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po... ORPHA:110
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Ectopic kidney, Renal agenesis OMIM:212780
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Waardenburg Syndrome, Type 1
Myelomeningocele, Aplasia of the vagina, Smooth philtrum, Orofacial cleft, Spina bifida OMIM:193500
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Pallister-Hall Syndrome
Natal tooth, Cryptorchidism, Neonatal death, Anal atresia, Ectopic kidney, Renal dysplasia, Preco... OMIM:146510
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux OMIM:619955
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Cleft upper lip, Median cleft palate, Cryptorchidism, Encephalo... OMIM:264480
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Isolated Hemihyperplasia
Myelomeningocele, Abnormality of the dentition, Cryptorchidism, Nephroblastoma ORPHA:2128
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Intellectual Disability, Wolff Type
Thick lower lip vermilion, Cryptorchidism, Abnormal intestine morphology, Orofacial cleft, Hyposp... ORPHA:3080
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia ORPHA:568
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
16P11.2P12.2 Microduplication Syndrome
Hypospadias, Cleft palate ORPHA:261204
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... OMIM:614376
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Recessive Dystrophic Epidermolysis Bullosa Inversa
Abnormality of the urinary system, Carious teeth, Vaginal stricture, Oral mucosal blisters, Ureth... ORPHA:79409
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Joubert Syndrome 26
Recurrent upper respiratory tract infections, Cleft lip, Decreased response to growth hormone sti... OMIM:616784
Verheij Syndrome
Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Branchial cyst, Long philtrum, Renal agenes... OMIM:615583
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Peripheral pulmonary artery stenosis, Hydroureter, Hypoplasia of the bladde... OMIM:300707
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Isolated Atp Synthase Deficiency
Respiratory distress, Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Abnormal vagina morphology, Abnormality of the ovary, Short philtrum, Hypoplasia ... ORPHA:247768
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Abnormal renal corticomedullary differentiation, Renal dysplasia OMIM:616733
Severe Acute Respiratory Syndrome
Respiratory distress, Acute kidney injury, Dyspnea ORPHA:140896
Peters Plus Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Renal hypoplasia/aplasia, Anal atresia, Hypoplasia ... ORPHA:709
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Abnormal lung lobation, Intestinal malrotation, Abnor... ORPHA:1666
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Cach Syndrome
Renal hypoplasia, Dysphagia, Gonadal dysgenesis ORPHA:135
Fanconi Anemia, Complementation Group F
Pneumonia, Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test,... OMIM:603467
Ulnar-Mammary Syndrome
Renal hypoplasia, Abnormality of the uterus, Breast aplasia, Cryptorchidism, Hypodontia, Hypoplas... ORPHA:3138
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Achondrogenesis Type 1A
Severe short stature, Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Abdominal ... ORPHA:93299
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Cleft upper lip, Um... ORPHA:373
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Non-Distal Duplication 10Q
Depressed nasal bridge, Abnormality of the urinary system, Micrognathia, Everted lower lip vermil... ORPHA:1695
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Cryptorch... ORPHA:2863
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia, Renal hypoplasia/aplasia OMIM:267400
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Ambiguous genitalia, Uro... ORPHA:753
Johanson-Blizzard Syndrome
Abnormality of the dentition, Abnormal vagina morphology, Anteriorly placed anus, Delayed eruptio... ORPHA:2315
Congenital Myopathy 17
Renal hypoplasia, Dental malocclusion, Long philtrum, Ureteropelvic junction obstruction, Respira... OMIM:618975
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism, Abnormal palate morphology ORPHA:2022
Pierpont Syndrome
Microcornea, Broad nasal tip, Widely spaced teeth, Feeding difficulties, Prominent median palatal... OMIM:602342
Qazi-Markouizos Syndrome
High, narrow palate, Prominent nasal bridge, Open mouth, Chronic constipation, Broad philtrum, Ab... ORPHA:3010
Cornelia De Lange Syndrome 1
Cryptorchidism, Hypoplastic labia majora, High palate, Ectopic kidney, Hypospadias, High, narrow ... OMIM:122470
Microphthalmia, Syndromic 12
Intestinal malrotation, Cryptorchidism, Neonatal death, Bicornuate uterus, Cleft palate, Pulmonar... OMIM:615524
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Intrauterine growth retardation, Anteve... OMIM:613604
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Fibrous syngnathia, Bifid scrotum, Cleft upper lip, Cryptorchidism, L... OMIM:119500
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Neonatal death OMIM:614870
Cleft Velum
Hypoplasia of the maxilla, Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:99772
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Gastroesophageal reflux, Intrauterine growth retarda... OMIM:619793
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Suleiman-El-Hattab Syndrome
Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Cryptorchidism, Hydronephr... OMIM:618950
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Narrow mouth, Cryptorchidism, Hydronephrosis, Ambigu... ORPHA:261344
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Vaginal atresia, Bicornuate uterus, Renal dysplasia, Pulmo... OMIM:191830
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, High palate, Umbilical hernia ORPHA:1035
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Meckel diverticulum, Horseshoe kidney, Vesicoureteral reflux, Dea... OMIM:274000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Mosaic Trisomy 14
Wide mouth, Cryptorchidism, Ectopic anus, High palate, Hypoplasia of penis, Hypospadias, Cleft pa... ORPHA:1703
Autosomal Recessive Amelia
Small scrotum, Cryptorchidism, Orofacial cleft, Aplasia/Hypoplasia of the lungs, Hypoplasia of pe... ORPHA:1027
Athyreosis
Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay, Feeding difficulties ORPHA:95713
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Death in infancy, Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, 3-Methylglutaconic aciduria, Neonatal death OMIM:615228
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Hypospadias, Cryptorchidism ORPHA:250994
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Tented upper lip vermilion, Hydronephrosis, Renal cyst, ... OMIM:618460
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Gingival ov... OMIM:179613
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Proximal tubulopathy, Aminoaciduria OMIM:612075
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Vaginal fistula, Anal atresia OMIM:619318
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Abnormal dental morphology ORPHA:2522
Bardet-Biedl Syndrome 6
Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias OMIM:605231
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Duplication of renal pelvis, Delayed eruption of teeth, Recurrent u... ORPHA:2036
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Horseshoe kidney, Abnormal lung lobation, Crossed f... ORPHA:3097
Severe Generalized Junctional Epidermolysis Bullosa
Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary ret... ORPHA:79404
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Spina bifida occulta, Cryptorchidism OMIM:618060
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardation, Micrognat... OMIM:615419
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Death in infancy, Hyperechogenic kidneys OMIM:614576
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Small scrotum, Abnormality of the dentition, Carious teeth, Cleft upper lip, Hypogonadism, Abnorm... ORPHA:3253
Diamond-Blackfan Anemia 11
Unilateral renal agenesis OMIM:614900
Endove Syndrome, Limb-Only Type
Hydronephrosis, Hypoplastic labia majora, Vesicoureteral reflux, Umbilical hernia OMIM:619217
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis, High palate OMIM:619185
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Juvenile cataract, Thin upper lip vermilion, Smooth philtr... ORPHA:438178
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Abnormality of the urinary system, Anteverted nares, Na... ORPHA:2412
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Cryptorchidism, Hydronephrosis, Gastroin... ORPHA:531151
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Ectopia lentis, Long philtrum, Nausea and vomiting, Feeding difficulties in infanc... ORPHA:833
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Pallister-Hall Syndrome
Small scrotum, Natal tooth, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Micropenis, Anal a... ORPHA:672
Mehmo Syndrome
Downturned corners of mouth, External genital hypoplasia, Cryptorchidism, Thick vermilion border,... ORPHA:85282
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Cataract 47
Cataract, Microcornea OMIM:612018
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Hydroureter, Delayed eruption of t... ORPHA:289
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micropenis, Unilateral renal agenesis, Vesicoureteral reflux OMIM:619951
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypoplasia of penis, Hypospadias ORPHA:1381
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria OMIM:614741
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Renal hypoplasia, Cleft lip, Microphallus, Umbilical hernia, Supernumerary nipple,... OMIM:618454
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Deep ... ORPHA:261120
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Natal tooth, Lobulated tongue, Atelectasis, Hamartoma of tongue, Intestinal mal... OMIM:269860
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Long philtrum, Pulmonary artery stenosis, Abnormality of the anterior pituitary... ORPHA:75389
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Smooth philtrum, Thin vermilion border, Abnormal localization of ... ORPHA:1920
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... ORPHA:363444
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Trisomy 20P
Abnormal localization of kidney, Abnormality of the dentition, Downturned corners of mouth, Umbil... ORPHA:261318
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Feeding difficulties, Short philtrum, Aggressive b... OMIM:617991
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst OMIM:174050
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria ORPHA:26792
Genitopalatocardiac Syndrome
Cleft upper lip, Renal cyst, Gonadal dysgenesis, male, Hypospadias, Cleft palate OMIM:231060
Trisomy 4P
Abnormality of the dentition, Carious teeth, Cryptorchidism, Abnormal palate morphology, Smooth p... ORPHA:1738
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Bifid scrotum, Cryptorchidism, Displacement of the urethral meatus, Esopha... ORPHA:95706
Malan Syndrome
Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Astigmatism, Hyperplasia of the... OMIM:614753
Beckwith-Wiedemann Syndrome
Nephropathy, Macroglossia, Abnormal pancreas morphology, Umbilical hernia, Large placenta, Vesico... ORPHA:116
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Umbilical hernia, Anteverted nares, Micrognathia, Nephroblastoma, Protube... OMIM:618272
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Acrocephalopolydactyly
Abnormal renal morphology, Depressed nasal ridge, Protuberant abdomen, Short nose ORPHA:221054
Webb-Dattani Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Vesicoureteral re... OMIM:615926
Developmental And Epileptic Encephalopathy 73
Cataract, Narrow nasal bridge, Feeding difficulties in infancy, Restlessness, Short nose OMIM:618379
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Serkal Syndrome
Abnormal penis morphology, Sex reversal, Malrotation of small bowel, Hypoplasia of the bladder, R... ORPHA:139466
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Acute kidney injury, Nephronophthisis, Bifid uvula, Umbilical hernia, Widely spaced... OMIM:266920
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Intestinal malrotation, Cryptorchidism, Thin upper lip vermilion, Smooth philtrum,... ORPHA:401935
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Submucous cleft hard palate OMIM:617660
Currarino Syndrome
Anal stenosis, Recurrent urinary tract infections, Horseshoe kidney, Septate vagina, Vesicoureter... OMIM:176450
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Meacham Syndrome
Pulmonary hypoplasia, Horseshoe kidney, Septate vagina, Scimitar anomaly, Congenital alveolar dys... OMIM:608978
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Abnormal renal morphology, Renal hypoplasia, Vesicoureteral reflux OMIM:609053
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Broad nasal t... ORPHA:1830
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Intrauterine growth retardation, Micrognathia, Malar flattening, Abno... ORPHA:2145
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:3363
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Intrauterine growth retardation, Narrow mouth, Corneal opacity, Short stature, Thin v... ORPHA:2370
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Peters-Plus Syndrome
Short lingual frenulum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus, Hypos... OMIM:261540
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Neonatal death OMIM:300076
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Micropenis, Death in childhood OMIM:615597
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse... OMIM:256300
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Hypoplasia ... OMIM:275400
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias OMIM:264600
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Nephrogenic rest, Horseshoe kidney, Nephroblastoma... OMIM:608022
Weiss-Kruszka Syndrome
Feeding difficulties, Exaggerated cupid's bow, Prominent nasal tip, Tube feeding, Broad philtrum,... ORPHA:502430
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Umbilical hernia, Feeding difficulties, Prominent nasal bridge, M... OMIM:613544
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Tracheoesophageal fistula, Es... OMIM:614083
Tetraploidy
Renal hypoplasia/aplasia, Hydronephrosis, Aplasia/Hypoplasia of the lungs, Short philtrum, Cleft ... ORPHA:3305
Chand Syndrome
Imperforate hymen, Hydroureter, Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum ... ORPHA:1401
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:146110
Distal Deletion 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Hypoplasia of penis, Non-midline ... ORPHA:1580
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Wide mouth, Bilateral cryptorchidism OMIM:300982
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Cryptorchidism, Death in infancy, Alveol... OMIM:235255
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Short stature, Acrocyanosis, Cleft palate ORPHA:2901
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... OMIM:617595
Mosaic Trisomy 9
Tessier cleft, Hypoplastic female external genitalia, Abnormality of the uterus, Abnormal lung lo... ORPHA:99776
Schizophrenia 1
Partially duplicated kidney, Ectopic kidney, Renal agenesis OMIM:181510
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Smith-Magenis Syndrome
Abnormality of the ureter, Micrognathia, Open mouth, Delayed eruption of primary teeth, Renal hyp... ORPHA:819
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Spina bifida occulta, Anal atre... OMIM:617466
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Duplicated collecting system, Hypospadias, Precocious puberty, Gas... OMIM:270400
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal upper lip morphology, Anteverted n... ORPHA:2849
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney OMIM:610832
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Occipital encephalocele, Micrognathia, Death in infancy, Me... OMIM:241800
Congenital Tufting Enteropathy
Cataract, Choanal atresia, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... ORPHA:92050
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Intestinal malrotation, Cryptorchidism, Hyd... ORPHA:457193
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Furrowed tongue, Anorectal anomaly, Gingival ov... ORPHA:1839
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:376
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Abdominal distention, Umbilical hernia, Malar flattening, Stil... OMIM:600972
Trisomy 17P
Wide mouth, Narrow mouth, Thick vermilion border, Hydronephrosis, Smooth philtrum, Orofacial clef... ORPHA:261290
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... OMIM:617752
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Delayed eruption of teeth, Umbilical hernia, Horseshoe kidney, Intest... OMIM:235510
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Pulmonary artery atresia, Ureteral ste... OMIM:270100
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver function, Intraute... OMIM:608104
Restrictive Dermopathy 1
Natal tooth, Hydropic placenta, Narrow mouth, Short umbilical cord, Submucous cleft hard palate, ... OMIM:275210
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Van Maldergem Syndrome 2
Renal hypoplasia, Dental malocclusion, Downturned corners of mouth, Bifid scrotum, Anteriorly pla... OMIM:615546
Raine Syndrome
Hydronephrosis, Hydroureter, Death in infancy, Neonatal death OMIM:259775
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Thick vermilion border, Open mouth, Cryptorch... ORPHA:364028
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypospadias, Choanal atresia, Hypoplasia of the maxilla, Downtur... ORPHA:2409
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
12Q14 Microdeletion Syndrome
Renal hypoplasia, Downturned corners of mouth, Horseshoe kidney, Intestinal malrotation, Hypodont... ORPHA:94063
Alfadhel Syndrome
Horseshoe kidney, Nasal flaring OMIM:620655
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormal lung lobation, Narrow mouth, Cryptorchidism, Orofacial cle... ORPHA:3301
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia ORPHA:3032
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Umbilical hernia, Median pseudocleft lip, Absence of renal corticomedullary dif... OMIM:619758
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Orofacial cleft, Cryptorchidism, Cleft upper lip ORPHA:85287
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Depressed nasal bridge, Dental malocclusion, Dental crowding, Long ... OMIM:616331
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Baker-Gordon Syndrome
Self-injurious behavior, Gastroesophageal reflux, Feeding difficulties, Thin upper lip vermilion,... OMIM:618218
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:604292
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Recurrent respiratory infections OMIM:615633
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis OMIM:619227
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Renovascular h... ORPHA:49041
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:752
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the dentition, Gastroesophageal reflux, Abnormality of the male genitalia, Volvulu... ORPHA:847
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... OMIM:140000
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Atelectasis, Penile hypospadias, ... OMIM:300219
Pallister-Killian Syndrome
Small scrotum, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Everted lower lip ... OMIM:601803
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Gastroesophageal reflux, Delay... ORPHA:85201
Chromosome 19Q13.11 Deletion Syndrome, Distal
Wide nasal bridge, Hypospadias, Carious teeth, Retrognathia, Underdeveloped nasal alae, Postnatal... OMIM:613026
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Peho-Like Syndrome
Feeding difficulties, Open mouth, Retrognathia, Short nose OMIM:617507
Recon Progeroid Syndrome
Growth delay, Dental crowding, Underdeveloped nasal alae, Progeroid facial appearance, Anteverted... OMIM:620370
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:2083
Abruzzo-Erickson Syndrome
Cryptorchidism, Abnormal palate morphology, Coronal hypospadias, Abnormal localization of kidney,... ORPHA:921
Intellectual Developmental Disorder, X-Linked 106
Decreased testicular size, Open mouth, Cryptorchidism, Thin upper lip vermilion, Thick vermilion ... OMIM:300997
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Renal Agenesis, Bilateral
Renal agenesis, Abnormal morphology of female internal genitalia, Sirenomelia, Abnormal intestine... ORPHA:1848
Kleefstra Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Recurrent respiratory infections, Supernume... ORPHA:261494
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Interstitial Cystitis
Functional abnormality of the bladder, Abnormal vagina morphology, Abnormality of the urethra, Ur... ORPHA:37202
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Unilateral renal hypoplasia, Cryptorchidism, Nephroblastoma... ORPHA:2874
Thomas Syndrome
Multicystic kidney dysplasia, Cleft upper lip, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Frontonasal Dysplasia 1
Wide nasal bridge, Cataract, Bifid nasal tip, Broad nasal tip, Cranium bifidum occultum, Anterior... OMIM:136760
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Delayed puberty, Abnormality of the kidney, Abdominal distention, Short stature, Gro... ORPHA:369
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, High palate, Short nose OMIM:300577
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle... OMIM:129900
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Intrauterine growth retardation, Cleft soft palate, Anteverted nares, Microgna... ORPHA:2282
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Abruzzo-Erickson Syndrome
Hypospadias, Cleft palate OMIM:302905
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Retro... ORPHA:391372
Retinitis Pigmentosa 59
Micropenis, Renal insufficiency, Cryptorchidism OMIM:613861
Hereditary Orotic Aciduria
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria ORPHA:30
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Tooth malposition, Cryptorchidism, Micropenis, Ectop... OMIM:616541
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Hydronephrosis, Solitary median maxillary central incisor, High palate, Cleft pa... OMIM:602418
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria ORPHA:79284
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Renal hypoplasia, Uterus didelphys, Long philtrum, Cleft upper lip, Cryptorchidism... ORPHA:93271
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Intrauterine growth... OMIM:615866
Orofaciodigital Syndrome Xix
Wide nasal bridge, Narrow palate, Bifid nasal tip, Carious teeth, Downturned corners of mouth, Lo... OMIM:620107
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia OMIM:618914
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormality of the ureter, Cryptorchidism, Renal hypoplasia... ORPHA:52
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Feeding difficulties, Exaggerated cupid's ... OMIM:618506
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Dental malocclusion, Mandibular osteomyelitis... ORPHA:83451
Fraser Syndrome 3
Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Stillbirth, Hypoplasia of... OMIM:617667
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydronephrosis, Anal atresia, Hypospadias,... OMIM:220210
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Recurrent pneumonia, Gastroesophageal reflux, Furrowed tongue, Tented upper... OMIM:616449
Lead Poisoning
Chronic kidney disease, Vomiting, Abdominal distention, Delayed eruption of teeth, Renal tubular ... ORPHA:330015
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Nasogastric tube feeding, Intrauterine growth retardation, Micrognathia, ... ORPHA:284417
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Hydronephrosis, Smooth philtrum, Cleft palate, Urethral sten... ORPHA:1727
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Umbilical hernia, Feeding difficulties in infancy, Constipation, Protuber... ORPHA:226313
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia ORPHA:2578
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v... OMIM:300558
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Long philtrum, Cryptorchidism, Thin upper lip vermilion, Perianal abscess, Micropenis, Upturned c... OMIM:614684
Fraser Syndrome 1
Tessier cleft, Clitoral hypertrophy, Renal hypoplasia, Dental malocclusion, Dental crowding, Clef... OMIM:219000
Silver-Russell Syndrome
Precocious puberty, Abnormal male external genitalia morphology, Abnormality of the urinary syste... ORPHA:813
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Mandibular prognathia, Intrauterine growth retardation, Anteverted nares,... OMIM:614613
Fg Syndrome 5
Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Chronic constipation, Hypospad... OMIM:300581
Restrictive Dermopathy
Microcolon, Natal tooth, Small placenta, Large placenta, Narrow mouth, Short umbilical cord, Subm... ORPHA:1662
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Postnatal growth retardation, Open mouth, Self-biting, Urinary incontinence, Long nose, ... OMIM:300912
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Proximal Xq28 Duplication Syndrome
Tented upper lip vermilion, Hypospadias, Cryptorchidism, Everted lower lip vermilion ORPHA:1762
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Gastroesophageal reflux, Widely-spaced maxillary central incisors, Horseshoe kidney, Wide mouth, ... ORPHA:502434
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esophageal atresia, ... OMIM:314390
Vici Syndrome
Renal tubular acidosis, Death in infancy, Ureteral atresia ORPHA:1493
Micro Syndrome
Abnormal localization of kidney, Cryptorchidism, Hydronephrosis, Short philtrum, High palate, Hyp... ORPHA:2510
Opitz Gbbb Syndrome
Natal tooth, Ankyloglossia, Cryptorchidism, Anal atresia, High palate, Dysphagia, Hypospadias, Cl... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 1
Postnatal growth retardation, Micrognathia, Open mouth, Polyphagia, Everted lower lip vermilion, ... OMIM:156200
3C Syndrome
High, narrow palate, Gastroesophageal reflux, Recurrent respiratory infections, Intestinal malrot... ORPHA:7
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Van Maldergem Syndrome 1
Renal hypoplasia, Dental malocclusion, Downturned corners of mouth, Anteriorly placed anus, Tente... OMIM:601390
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Recurrent upper respiratory tract infections, Long philtrum, Hypogonadism, D... OMIM:612513
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Papillary renal cell carcinoma type 2, Vaginal neoplasm, Esophageal neoplasm, ... ORPHA:523
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cleft lip, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, High... OMIM:612702
Zellweger Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Death in infancy, Hydronephro... ORPHA:912
Intellectual Disability-Strabismus Syndrome
Micrognathia, Chronic constipation, High palate, Hypospadias, Short nose, Gastroesophageal reflux... ORPHA:363528
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Micropenis, Cleft palate OMIM:614880
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Nausea... ORPHA:100924
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, High palate, Duodenal ulcer, Ectopic kidney, Hypospadias, G... OMIM:135900
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Cryptorchidism, Wide mouth, Death in childhood, Hyperuricosuri... OMIM:300661
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the ... ORPHA:1786
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Feeding difficulties, Thin upper lip ve... OMIM:620292
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cryptorchidism OMIM:250951
Cat Eye Syndrome
Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticulum, Renal agenesis, Volv... OMIM:115470
Axenfeld-Rieger Syndrome
Wide nasal bridge, Hypospadias, Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla,... ORPHA:782
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Death in infancy, Cleft palate OMIM:258320
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Microcornea, Dental malocclusion, Downturned corners of mouth, Open bite,... ORPHA:1327
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Unilateral cleft lip, Pleural effusion, Hydronephrosis, Micropenis, Hypospadias, Cleft palate, Pu... OMIM:616897
Seizures-Scoliosis-Macrocephaly Syndrome
Long philtrum, Gastroesophageal reflux, Cryptorchidism, Abnormality of the kidney ORPHA:466926
Stt3B-Cdg
Respiratory distress, Micropenis ORPHA:370924
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Gastroesophageal reflux, Downturned corners of mouth, Broad columella, Wi... OMIM:617865
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... ORPHA:95427
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:615721
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Downturned corners of mouth, Wi... ORPHA:369891
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Downturned corners of mouth, Furrowed tongue, Vesicouretera... ORPHA:453499
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Everted lower lip vermilion, Displacement of the urethral me... ORPHA:893
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Acrofacial Dysostosis, Catania Type
Carious teeth, Cryptorchidism, Spina bifida occulta, Hypospadias, Cleft palate OMIM:101805
Acrorenal-Mandibular Syndrome
Narrow palate, Absent nipple, Uterus didelphys, Renal agenesis, Aplasia of the bladder, Abnormali... OMIM:200980
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Frontofacionasal Dysplasia
Tessier cleft, Cataract, Microcornea, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, De... ORPHA:1791
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Cryptorchidism, Death in infancy OMIM:618815
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Decreased testicular size,... OMIM:619321
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Glycosuria, Pancreatic hypoplasia, Umbilical hernia, Intestinal ma... OMIM:600001
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Death in infancy, Disproportionate short-trunk short stature, Protuberant a... OMIM:277300
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Retrognathia, Long philtrum, Bulbous nose, Intrauterine growth retardation, ... ORPHA:485405
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Megarectum, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, ... OMIM:301056
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Chronic constipation, High palate, Dysphagia, Motor stereotypy, Short nose, Self-in... OMIM:617061
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Abnormal lip morphology, Recurrent urinary tract infections, Abnormal... ORPHA:1334
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Gastroesophageal reflux, Cryptorchidism, Death in infancy, Ambiguous genitalia, Hy... ORPHA:168593
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter OMIM:619426
Distal Duplication 18Q
Choanal atresia, Carious teeth, Abnormal dental morphology, Anteverted nares, Prominent nasal bri... ORPHA:1716
Camptobrachydactyly
Urinary incontinence, Septate vagina OMIM:114150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Small intestin... ORPHA:298
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Depressed nasal bridge, Elevated urina... OMIM:614105
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Decreased testicu... OMIM:300978
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention,... OMIM:619365
Chromosome 3Q13.31 Deletion Syndrome
Decreased testicular size, Cryptorchidism, Short philtrum, Shawl scrotum, Micropenis, High palate OMIM:615433
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Delayed puberty, High palate, Short nose ORPHA:2598
Glucose/Galactose Malabsorption
Glycosuria, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea OMIM:606824
Cornelia De Lange Syndrome 5
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Hypogon... OMIM:300882
Alazami-Yuan Syndrome
Dental crowding, Long philtrum, Narrow mouth, Cryptorchidism, Thin upper lip vermilion, High palate OMIM:617126
Stromme Syndrome
Bilateral renal hypoplasia, Intestinal malrotation, Jejunal atresia, Hydronephrosis, Stillbirth, ... OMIM:243605
Congenital Disorder Of Glycosylation, Type Iu
Feeding difficulties, Micrognathia, Death in infancy, Thin upper lip vermilion, High palate, Shor... OMIM:615042
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis OMIM:619194
Duane-Radial Ray Syndrome
Renal hypoplasia, Anal stenosis, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, V... OMIM:607323
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Pursed lips, Narrow mouth, Cryptorchidism, Thin vermilion border, High pa... OMIM:619110
Verloove Vanhorick-Brubakk Syndrome
Abnormality of the parathyroid gland, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal l... ORPHA:3429
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Renal insufficiency ORPHA:79312
Fetal Akinesia Deformation Sequence 4
High palate, Cryptorchidism, Prenatal death, Neonatal death OMIM:618393
Phosphoserine Aminotransferase Deficiency
Death in infancy, Feeding difficulties, Cyanotic episode OMIM:610992
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal... ORPHA:2919
Stickler Syndrome Type 1
Cataract, Hypoplasia of the maxilla, Long philtrum, Short nose, Cleft palate ORPHA:90653
Fetal Trimethadione Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, High palate, Hypospadias, ... ORPHA:1913
Neu-Laxova Syndrome 2
Cataract, Depressed nasal ridge, Intrauterine growth retardation, Micrognathia, Spina bifida, Pro... OMIM:616038
Cerebrofacioarticular Syndrome
Renal hypoplasia, Anal stenosis, Anteriorly placed anus, Narrow mouth, Irregular dentition, Hypos... ORPHA:314679
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Hepatic failure, Prominent nose, Renal tubular dysfunction, Prominence of the ... OMIM:614886
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid... ORPHA:2429
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Pulmonary hypopl... ORPHA:3033
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr... OMIM:231680
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Nephroblastoma OMIM:612918
Borjeson-Forssman-Lehmann Syndrome
Micropenis, Hypoplasia of the prostate, Cryptorchidism OMIM:301900
Chromosome 15Q26-Qter Deletion Syndrome
Micropenis, Hypospadias, Cryptorchidism OMIM:612626
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Long philtrum, Anteverted nares... OMIM:618529
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism, Thin vermilion border ORPHA:261483
Opitz Gbbb Syndrome
Gastroesophageal reflux, Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral f... OMIM:300000
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Hydronephrosis, Gastrointestinal dysmotility, Micropenis,... OMIM:617798
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Cataract, Microcornea, Delayed eruption of teeth... ORPHA:2712
Currarino Syndrome
Bifid scrotum, Vesicoureteral reflux, Abnormal intestine morphology, Male pseudohermaphroditism, ... ORPHA:1552
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Aplasia of the bladder, Horseshoe kidney, Absent gallbl... OMIM:612284
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Recurrent upper respiratory tract infections, Diarrhea, Retrognathia, Ant... OMIM:614069
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of the bladder, ... OMIM:265380
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Disproportionate short-limb short stature, Malar flattening, Abdominal di... ORPHA:85166
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Hypoplasia of penis, Short nose, Wide nose ORPHA:217385
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Dental crowding, Long philtrum, Umbilical hernia, Ve... OMIM:620654
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Long philtrum, Glandular hypospadias, Hydronephrosis, Thin verm... ORPHA:1358
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Kabuki Syndrome
Precocious puberty, Abnormal localization of kidney, Abnormality of the dentition, Lip pit, Widel... ORPHA:2322
Primary Pulmonary Hypoplasia
Ureteral stenosis, Intrauterine growth retardation, Micrognathia, Cyanosis, Hypoxemia, Cleft palate ORPHA:2257
Odontochondrodysplasia 1
Respiratory distress, Nephronophthisis, Polycystic kidney dysplasia, Death in infancy OMIM:184260
3Mc Syndrome 2
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Horseshoe kidney, Postnatal grow... OMIM:265050
Femoral-Facial Syndrome
Long penis, Long philtrum, Cryptorchidism, Renal hypoplasia/aplasia, Thin upper lip vermilion, Or... ORPHA:1988
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Cataract, Depressed nasal bridge, Gastroesophageal reflux, Intrauterine ... OMIM:619833
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t... ORPHA:915
Seckel Syndrome 5
Clitoral hypertrophy, Selective tooth agenesis, Cryptorchidism, Oligodontia, Hypodontia, Enamel h... OMIM:613823
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Feeding difficulties in infancy, Everted lower lip vermilion, L... OMIM:620450
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Cryptorchidism, Proteinuria ORPHA:1192
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Cryptorchidism OMIM:618110
Bainbridge-Ropers Syndrome
Micrognathia, Everted lower lip vermilion, High palate, Tube feeding, Motor stereotypy, Short nos... OMIM:615485
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Mosaic Trisomy 8
Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, High palate, Cl... ORPHA:96061
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Intr... OMIM:242900
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Narrow maxilla, Intestinal malrotati... OMIM:617602
Otopalatodigital Syndrome Type 2
Myelomeningocele, Ureteral obstruction, Narrow mouth, Encephalocele, Anodontia, Hydronephrosis, O... ORPHA:90652
Coffin-Siris Syndrome 11
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft soft palate... OMIM:618779
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Displacement of the urethral meatus ORPHA:2377
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Hypoplasia of the maxilla, Micrognathia, Death in c... OMIM:301108
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... OMIM:615237
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Functional abnormality of the bladder, Long philtrum, Hors... ORPHA:2953
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Neonatal death OMIM:620024
Li-Campeau Syndrome
Micropenis, Gastrointestinal dysmotility, Cryptorchidism, Long philtrum OMIM:619189
Congenital Disorder Of Glycosylation, Type Iig
Long philtrum, Renal insufficiency, Cryptorchidism, Narrow mouth, Hydronephrosis, Thin upper lip ... OMIM:611209
Otodental Syndrome
Abnormality of canine, Cataract, Abnormal dental pulp morphology, Carious teeth, Periodontitis, A... ORPHA:2791
Miller-Dieker Syndrome
Nephropathy, Anteverted nares, Abnormal upper lip morphology, Growth delay, Short nose ORPHA:531
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Broad columella, Retrognathia, Glandular hypospadias, Thick nasal alae, Bulbous nose, Cleft soft ... ORPHA:293725
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior, Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Vesicouret... OMIM:618828
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Cleft lip, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Cleft palate OMIM:614838
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Gastroesophageal reflux, Bulbous nose, Intrauterine growth retardation, Anteve... ORPHA:261211
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Abnormality of the ureter, Large placenta, Cryptorchidism, ... OMIM:249000
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Dental malocclusion, Short nose OMIM:155050
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Umbilical hernia, Cryptorchidism, Micropenis, Broad philtrum, H... ORPHA:2872
Sotos Syndrome
Small cell lung carcinoma, Cryptorchidism, Abnormality of the kidney, Hypospadias, Gastroesophage... ORPHA:821
Rauch-Steindl Syndrome
Miscarriage, Bilateral renal hypoplasia, Hyperechogenic kidneys OMIM:619695
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Cleft palate, Renal hypoplasia/aplasia ORPHA:971
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Carious teeth, Widely spaced teeth, Protuberant abdome... OMIM:617102
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Micropenis, Short phil... OMIM:601224
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Intrauterine growth retardati... OMIM:619005
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, Renal insufficiency, Ure... OMIM:208540
Gabriele-De Vries Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Ureteropelvic junction obstruction, Cryp... OMIM:617557
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
22Q11.2 Deletion Syndrome
Carious teeth, Narrow mouth, Cryptorchidism, Hypoparathyroidism, Anal atresia, Polycystic kidney ... ORPHA:567
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Feeding difficulties, Thin... OMIM:613443
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Anteverted nares, Micrognathia, Cyanosi... OMIM:619879
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Cataract, Depressed nasal bridge, Ectopia lentis... ORPHA:560
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Short stature, Short philtrum, Thin vermilion bord... OMIM:156510
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Gastroesophageal reflux, Bifid sc... OMIM:107480
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis, Wide mouth, Non-midline cleft of the upper lip, Cleft palate ORPHA:1636
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Depressed nasal bridge, Mandibular prognathia, Head-banging, Unilateral cleft lip, T... OMIM:619103
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Thick anterior alveolar ridges, Hydronephrosis, Ambiguous genitali... ORPHA:2839
Schilbach-Rott Syndrome
Bifid uvula, Prominent nose, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention d... OMIM:164220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Reduced subcutaneous adipose tissue, Excessive wrin... OMIM:619950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Narrow mouth, Urinary bladder wall hypertrophy, Anal atresia, High palate, Dysphagia, Gastroesoph... ORPHA:280633
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Uterus didelphys, Hamartoma of tongue, Septate vagina, Absent gallbladder... OMIM:617925
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal ... OMIM:611812
Mosaic Variegated Aneuploidy Syndrome 1
Cataract, Multicystic kidney dysplasia, Depressed nasal bridge, Long philtrum, Postnatal growth r... OMIM:257300
Donohue Syndrome
Long penis, Thick lower lip vermilion, Postnatal growth retardation, Intrauterine growth retardat... OMIM:246200
Tetraamelia Syndrome 1
Absent external genitalia, Pulmonary hypoplasia, Renal agenesis, Cleft upper lip, Adrenal gland a... OMIM:273395
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio... OMIM:617616
Spinal Muscular Atrophy, X-Linked 2
Micropenis, Hypospadias, Cryptorchidism OMIM:301830
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Mal... OMIM:155310
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Respiratory distress, Renal hypoplasia/aplasia, Dys... ORPHA:3015
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Cryptorchidism, Death in infancy, Death in childhood, Thin vermilion border OMIM:618766
Trisomy 8Q
Myelomeningocele, Cryptorchidism, Displacement of the urethral meatus, Abnormal oral frenulum mor... ORPHA:1752
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis... OMIM:617913
Prader-Willi Syndrome Due To Translocation
Carious teeth, Micrognathia, Feeding difficulties in infancy, Everted lower lip vermilion, Abnorm... ORPHA:177907
Fraser Syndrome
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Encephal... ORPHA:2052
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, High, narrow palate, Abnormality of the urinary system, Long philtrum, Crypto... ORPHA:96092
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Nephrocalcinosis, Retrognathia, Intrauterine growth retardation, Feeding diffi... OMIM:618005
Okamoto Syndrome
Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, D... ORPHA:2729
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Renal insufficiency, Nephrolithiasis,... ORPHA:35710
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Feeding difficulties, Broad phi... OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Feeding di... OMIM:620157
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Liver Failure, Infantile, Transient
Vomiting, Abdominal distention, Dicarboxylic aciduria, Acute hepatic failure, 3-hydroxydicarboxyl... OMIM:613070
Birk-Aharoni Syndrome
Micropenis, Duplicated collecting system, Cryptorchidism OMIM:620071
48,Xxyy Syndrome
Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Recurrent respiratory infectio... ORPHA:10
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Intestinal malrotation, Pul... ORPHA:2255
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Renal hypoplasia, Carious teeth, Xerostomia, Abnormal salivary gland morphology, Abn... ORPHA:2363
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Baraitser-Winter Syndrome 1
Wide nasal bridge, Iris coloboma, Retrognathia, Long philtrum, Cleft upper lip, Postnatal growth ... OMIM:243310
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Retrognathia, Decreased liver function, Intrauterine growth retardation,... OMIM:608779
Omodysplasia 2
Gastroesophageal reflux, Uterus didelphys, Long philtrum, Tented upper lip vermilion, Cryptorchid... OMIM:164745
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Absent uvula, Pulmonary hypoplasia OMIM:616531
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Hypospadias, Cryptorchidism, Pyloric stenosis OMIM:218350
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Renal agenesis, Widely-spaced maxillary central incisors, Umbilical hern... OMIM:301040
Microform Holoprosencephaly
Choanal atresia, Hypoplasia of penis, Renal agenesis, Intrauterine growth retardation, Narrow nas... ORPHA:280200
Koolen-De Vries Syndrome
Narrow palate, Cleft upper lip, Recurrent urinary tract infections, Widely spaced teeth, Vesicour... OMIM:610443
Hypoplasminogenemia
Periodontitis, Abnormality of the ovary, Gingival overgrowth, Nephrolithiasis, Abnormal fallopian... ORPHA:722
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Aganglionic megacolon, Abnormality of the b... ORPHA:3339
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Abnormality of the tongue muscle, Cryptorchidism ORPHA:370968
Triploidy
Intestinal malrotation, Wide mouth, Narrow mouth, Cryptorchidism, Ambiguous genitalia, Meningocel... ORPHA:3376
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose OMIM:125700
Hereditary Fructose Intolerance
Chronic kidney disease, Cataract, Diarrhea, Vomiting, Renal insufficiency, Nausea, Abdominal pain... ORPHA:469
Andersen-Tawil Syndrome
Abnormality of the dentition, Renal hypoplasia, Dental crowding, Persistence of primary teeth, Re... ORPHA:37553
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Retrognathia, Nasogastric tube feeding, Thick nasal alae, Feeding difficulti... ORPHA:163961
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Mandibular prognathia, Gastroesophageal reflux, Bulbous nose, Feeding dif... ORPHA:261144
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Prominent nasal bridge, Chronic constipation, High palate, Mandibular ... OMIM:300676
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Downturned corners of mouth, Cryptorchidism, Male pseudohermaphrodi... ORPHA:2075
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Townes-Brocks Syndrome
Renal hypoplasia, Urethral valve, Abnormal vagina morphology, Abnormality of the uterus, Bifid sc... ORPHA:857
Trisomy 18
Narrow palate, Abnormal morphology of female internal genitalia, Narrow mouth, Cryptorchidism, Hy... ORPHA:3380
Amish Lethal Microcephaly
Organic aciduria, Micrognathia, Cleft soft palate, Death in infancy, Spina bifida, Feeding diffic... ORPHA:99742
Pagod Syndrome
Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal mo... ORPHA:991
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Malar flattening, Protuberant abdomen, Short nose OMIM:614524
Au-Kline Syndrome
Chronic kidney disease, Bifid uvula, Gastroesophageal reflux, Dilatation of the renal pelvis, Dow... OMIM:616580
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
7Q31 Microdeletion Syndrome
Enuresis nocturna, Abnormal temper tantrums, Galactosuria, Hypoplasia of the maxilla, Gastroesoph... ORPHA:251061
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thick lower lip vermilion, Anteverted nares, Feeding difficulties, Tented upper lip vermilion, St... OMIM:619854
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Gastroesophageal reflux, Dental crowding, Branchial cyst, Cryptorchidism, Thin upper lip vermilio... ORPHA:435938
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Prostatitis, Abnormality of the anterior pituitary... ORPHA:449395
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Cryptorchidism, Protruding tongue, Deat... OMIM:214100
Baller-Gerold Syndrome
Abnormal localization of kidney, Anteriorly placed anus, Abnormality of the ureter, Intrauterine ... ORPHA:1225
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Micrognathia, Narrow mouth, Polyphagia, Feeding difficulties in inf... ORPHA:251028
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Cryptorchidism ORPHA:3434
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Stillbirth, Umbilical hernia, Malar flattening, Protub... OMIM:269250
Primary Effusion Lymphoma
Abdominal pain, Abdominal distention ORPHA:48686
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Narrow mouth, Feeding difficu... OMIM:617201
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Upper lip pit, Renal agenesis, Tooth agenesis, Microdontia, Hydrone... ORPHA:1297
Ulbright-Hodes Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Renal hypoplasia, Enlarged labia minora, Narrow ... ORPHA:3404
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Open bite, Ankyloglossia, Cryptorchidism, Hypoplastic female extern... ORPHA:1507
Autosomal Dominant Omodysplasia
Long philtrum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis ORPHA:93328
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Trisomy 12P
Wide nasal bridge, Abnormality of the urinary system, Downturned corners of mouth, Micrognathia, ... ORPHA:1699
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Abnormal vagina morphology, Abnormal ple... ORPHA:537
Mesomelia-Synostoses Syndrome
High, narrow palate, Long philtrum, Aplasia/Hypoplasia of the uvula, Umbilical hernia, Narrow mou... ORPHA:2496
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias OMIM:269150
Lathosterolosis
Cataract, Microcornea, Hepatic failure, Downturned corners of mouth, Long philtrum, Horseshoe kid... ORPHA:46059
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Microphallus, Long philtrum, Myelomeningocele, Decreased response t... ORPHA:94065
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Hyperactivity, Short nose, Mandibular pr... OMIM:300143
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism ORPHA:3303
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... OMIM:612292
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Feeding difficulties, Micrognathia, Malar flattening, Short stature, C... ORPHA:79113
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Cryptorchidism OMIM:620327
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Open mouth, Cryptorchidism, Protruding tongue, High palate, Widely-spaced maxillar... OMIM:309580
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Abnormality of the ki... ORPHA:261222
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Gastroesophageal reflux, Long philtrum, Intrauterine growth retardatio... OMIM:613805
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Cleft mandible, Short nose, Intra... ORPHA:364577
Pfeiffer Syndrome Type 3
Respiratory distress, Hydronephrosis, Vesicoureteral reflux, Horseshoe kidney ORPHA:93260
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth... ORPHA:261295
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Congenital megau... ORPHA:369837
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Cataract, Depressed nasal bridge, Myelomeningocele, Intrauterine growth retardat... ORPHA:1914
Microcephaly 27, Primary, Autosomal Dominant
Micropenis, Cryptorchidism OMIM:619180
Kinsship Syndrome
Renal hypoplasia, Gastroesophageal reflux, Downturned corners of mouth, Thick lower lip vermilion... OMIM:619297
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Cryptorchidism, Encephalocele, Renal hypopl... ORPHA:2911
Sialuria
Wide nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Attention deficit hy... OMIM:269921
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Attention deficit hyperactivity disorder, Short nose OMIM:245570
Kury-Isidor Syndrome
Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Hydronephrosis, Triangular mouth,... OMIM:619762
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Broad nasal tip, Bruxism, Tented upper lip vermilion, Thin upper lip vermilion... OMIM:615716
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Anal stenosis, Microcornea, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:601499
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Growth del... ORPHA:75233
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Cryptorchidism, 3-Methylglutaconic aciduria, Death in infancy, Abnormality of the kid... ORPHA:1194
46,Xy Ovotesticular Difference Of Sex Development
Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology... ORPHA:325345
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Holoprosencephaly 2
Bifid uvula, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilat... OMIM:157170
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Downturned corners of mouth, Long philtrum, Intrauterine growth retardation, Anteverted nares, Na... ORPHA:391408
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Tooth agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Cleft... OMIM:147950
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Feeding difficulties, Micrognathia, 3-Methylglutaconic aciduria, Delayed puberty, Corne... ORPHA:496790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Respiratory distress, Hyperphosphaturia, Renal tubular dysfunction, De... OMIM:220110
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Developm... ORPHA:335
Keratoconus Posticus Circumscriptus
Cleft upper lip, Vesicoureteral reflux, Cleft palate, Recurrent urinary tract infections OMIM:244600
Tarp Syndrome
Horseshoe kidney, Cryptorchidism, Alveolar ridge overgrowth, Hydronephrosis, Abnormal duodenum mo... ORPHA:2886
Renpenning Syndrome 1
Renal hypoplasia, Decreased testicular size, Macrodontia, Narrow mouth, Death in childhood, Phimo... OMIM:309500
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Prominent nasal bridge, Aggressive behavior, Short stature, High palate ORPHA:85279
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis, Stillbirth OMIM:308050
Cebalid Syndrome
Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Feeding difficulties, Polyphagia... OMIM:618774
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cataract, Cleft lip, Microretrognathia, Downturned corners of mouth, Long phil... OMIM:618571
Thakker-Donnai Syndrome
Downturned corners of mouth, Narrow mouth, Hydronephrosis, Tracheoesophageal fistula, Anal atresi... ORPHA:1780
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia ORPHA:1918
Normosmic Congenital Hypogonadotropic Hypogonadism
Abnormality of the dentition, Male hypogonadism, Non-obstructive azoospermia, Decreased testicula... ORPHA:432
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Oligosacchariduria,... ORPHA:163649
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Long philtrum, Abnormal... ORPHA:439822
1Q21.1 Microdeletion Syndrome
Long philtrum, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, High palate ORPHA:250989
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Umbilical hernia, Intrauterine growth retardation, Death in infancy, Abd... OMIM:620275
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Death in infancy, Aganglionic megacolon, Ambiguous genitalia, Hypoplasia of penis ORPHA:452
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Abnormal lip morphology, Myelomeningocele,... ORPHA:3440
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydronephros... OMIM:618653
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome, Acrocyanosis OMIM:123540
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... ORPHA:168558
Alg9-Cdg
Bifid uvula, Hypoplasia of the bladder, Gastroesophageal reflux, Long philtrum, Abnormal lung lob... ORPHA:79328
Achondrogenesis, Type Ii
Microretrognathia, Disproportionate short-limb short stature, Long philtrum, Disproportionate sho... OMIM:200610
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Peripheral pulmonary artery stenosis, Pelvic kidney, Cryptorchidism OMIM:613001
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
14Q22Q23 Microdeletion Syndrome
Small scrotum, Renal hypoplasia, Downturned corners of mouth, Cryptorchidism, Anterior pituitary ... ORPHA:264200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Gastroesophageal reflux, Retrognathia, Long philtrum, Wide mout... OMIM:620250
Harel-Yoon Syndrome
Feeding difficulties, Micrognathia, Developmental cataract, Corneal opacity, Mandibular prognathi... OMIM:617183
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Long philtrum, Supernumerary nipple, Hypogonadism, Decreased testic... ORPHA:261349
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Fetal Alcohol Syndrome
Intrauterine growth retardation, Anteverted nares, Micrognathia, Microdontia, Thin upper lip verm... ORPHA:1915
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Chronic kidney disease, Nephropathy, Uterine neoplasm, Gastroesophageal reflux, Aspiration pneumo... ORPHA:1018
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... ORPHA:289548
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Dental crowding, Hypopl... ORPHA:293939
Distal Deletion 10Q
Postnatal growth retardation, Micrognathia, High palate, Anal atresia, Short nose, Acute kidney i... ORPHA:96148
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:163971
Acromicric Dysplasia
Severe short stature, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, N... ORPHA:969
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Feeding difficulties, Tented u... OMIM:618430
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Abnormality of the kidney, Axial malrotation of the kidn... ORPHA:3320
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:610628
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Depressed nasal bridge, Long philtrum, Open mouth, Intestinal polyp, Lactose intoler... ORPHA:457485
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Long philtrum, Cryptorchidism, Fetal... ORPHA:73246
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Al Amyloidosis
Nephrotic syndrome, Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Gastropares... ORPHA:85443
Meckel Syndrome, Type 10
Bifid uvula, Occipital encephalocele, Anencephaly, Renal cyst, Micropenis, Hypospadias, Cleft palate OMIM:614175
Reni Syndrome
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogonadism, Stage 5 c... OMIM:617575
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Microphthalmia, Syndromic 1
High, narrow palate, Pyloric stenosis, Renal hypoplasia, Tooth malposition, Hydroureter, Dental c... OMIM:309800
Weaver Syndrome
Hypoplasia of penis, Deep philtrum, Cryptorchidism, Long philtrum ORPHA:3447
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Megalocornea, Postnatal growth retardation, Microgna... OMIM:223370
Fibrochondrogenesis 1
Depressed nasal bridge, Rhizomelia, Stillbirth, Long philtrum, Megalocornea, Anteverted nares, Na... OMIM:228520
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, High palate, Anal atre... ORPHA:84
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed erup... OMIM:619356
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux... OMIM:301111
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Downturned corners of mouth, Umbilical hernia, Cryptorchidism, Wide mouth OMIM:273390
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Dysplastic testes, Partial development of the penile shaft, Cryptorchidi... OMIM:608800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Micrognathia, Death in infanc... ORPHA:163966
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Wide mouth, Narrow mouth, Renal atrophy, Vesicoureteral reflux, Cryptorchidism, Ex... OMIM:618659
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Dilatation of the renal pelvis, Cleft soft palate, Chordee, Iris coloboma, Hypospadias, Dysphagia... ORPHA:268261
Buratti-Harel Syndrome
Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Velopharyngeal insufficiency, Cryptorc... OMIM:619314
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Long philtrum, Feeding difficulties, Gingival overgrowth, Prominent nasal brid... OMIM:619179
Mercury Poisoning
Respiratory distress, Acute kidney injury, Dyspnea ORPHA:330021
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:2772
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Renal dyspl... OMIM:314300
Pitt-Hopkins Syndrome
Tooth malposition, Triangular nasal tip, Postnatal growth retardation, Esophagitis, Micropenis, S... ORPHA:2896
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polypos... OMIM:617100
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Organic aciduria ORPHA:79242
Robinow Syndrome
Small scrotum, Multicystic kidney dysplasia, Tooth malposition, Ankyloglossia, Marked delay in er... ORPHA:97360
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Choanal atresia, Depressed nasal bridge, Absent cupid's bow, Bulbous nose, Feeding difficulties, ... ORPHA:284169
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Dark urine, Renal insufficiency... ORPHA:93552
Orofaciodigital Syndrome V
Bifid uvula, Horseshoe kidney, Ankyloglossia, Hamartoma of tongue, Median cleft upper lip, Agangl... OMIM:174300
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Broad nasal tip, Downturned corners of mouth, Cleft upper lip, Anteriorly plac... OMIM:239300
Thyroid Hypoplasia
Jaundice, Constipation, Abdominal distention, Short stature, Macroglossia, Growth delay ORPHA:95720
5Q14.3 Microdeletion Syndrome
Anteverted nares, Feeding difficulties, Open mouth, Short philtrum, Motor stereotypy, Short nose ORPHA:228384
Teebi-Shaltout Syndrome
High, narrow palate, Ureteral stenosis, Horseshoe kidney, Prominent palatine ridges, Narrow mouth... OMIM:272950
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism OMIM:616910
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Abnormality of the uterus, Recurrent urinary tract infections, Ureter... ORPHA:2438
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Feeding difficulties in infancy,... ORPHA:192
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Ureterope... ORPHA:444072
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil... ORPHA:2701
Oculoauriculovertebral Spectrum With Radial Defects
Distal urethral duplication, Vesicoureteral reflux, Renal hypoplasia/aplasia, Ectopic anus, Orofa... ORPHA:2549
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Umbilical hernia, Open bite, Abnormal dental morphology, Hydronephrosis, Hig... ORPHA:3079
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Death... ORPHA:166272
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Widely spaced teeth, Cryptorchidism, Microdontia, Pr... ORPHA:2728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Micropenis, Macroglossia, Open mouth, Cryptorchidism OMIM:613156
Stt3A-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370921
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Gastroesophageal reflux, Long philtrum, Intestinal malrotation, Cryptorchidism, Exaggerated cupid... OMIM:618316
Chromosome 3Pter-P25 Deletion Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Cryptorchidism, Thin upper l... OMIM:613792
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Smooth philtrum, Bicornuate uterus, Polycystic kidney dysplasia, Pulmonar... OMIM:263210
2Q23.1 Microdeletion Syndrome
Macrodontia, Open mouth, Cryptorchidism, Tented upper lip vermilion, Everted lower lip vermilion,... ORPHA:228402
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Diarrhea, Anteverted nares, Micrognathia, Malabsorption, Protruding tongu... OMIM:242860
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Sepsis In Premature Infants
Oliguria, Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointes... ORPHA:90051
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Urinary incontinence, Dental crowding, Eruption failure, Long philt... ORPHA:476126
Degcags Syndrome
Chronic kidney disease, Oral-pharyngeal dysphagia, Cryptorchidism, Protruding tongue, Abnormal re... OMIM:619488
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Renal dysplasia, Cryptorchidism, High palate, Hypospadias, Broad alveolar ridges OMIM:300004
Multiple Epiphyseal Dysplasia, Lowry Type
Rhizomelia, Broad nasal tip, Micrognathia, Cleft hard palate, Short stature ORPHA:166016
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Cataract, Gastroesophageal reflux, Dental crowding, Horseshoe kidne... ORPHA:65286
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Thick lower lip vermilion, Hypogonadism, Decreased testicular size, Wide mouth, Cryptorchidism, M... OMIM:300354
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Anteverted nares, Malar flattening, Smooth philtrum, Hyperactivity, Shor... OMIM:601853
Thyroid Hemiagenesis
Umbilical hernia, Jaundice, Constipation, Abdominal distention, Macroglossia, Growth delay ORPHA:95719
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Long penis, Meckel diverticulum, Long philtrum, Short nose OMIM:190440
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Long philtrum, Abnormal palate morphology, Short stature, Short nose ORPHA:1389
Culler-Jones Syndrome
Ectopic posterior pituitary, Cleft upper lip, Hypogonadism, Hypopituitarism, Cryptorchidism, Ante... OMIM:615849
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Renal insufficie... ORPHA:96179
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis ORPHA:2155
Desmosterolosis
Severe short stature, Bifid uvula, Depressed nasal bridge, Renal agenesis, Abnormality of the nos... ORPHA:35107
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Bilateral cryptorchidism OMIM:618840
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Abdominal distention OMIM:619345
Harrod Syndrome
Multicystic kidney dysplasia, Dental malocclusion, Narrow mouth, Cryptorchidism, High palate, Hyp... ORPHA:2115
Edinburgh Malformation Syndrome
Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narrow mouth, Thin ... ORPHA:1895
Tarp Syndrome
Meckel diverticulum, Horseshoe kidney, Neonatal death, Hydronephrosis, High palate, Glossoptosis,... OMIM:311900
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Vesic... OMIM:301068
Microvillus Inclusion Disease
Nephrocalcinosis, Diarrhea, Abdominal distention, Villous atrophy, Abnormal small intestinal vill... ORPHA:2290
Bartsocas-Papas Syndrome
Popliteal pterygium, Underdeveloped nasal alae, Short nose, Micrognathia, Narrow mouth, Renal hyp... ORPHA:1234
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cryptorchidism OMIM:620135
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Rapp-Hodgkin Syndrome
Bifid uvula, Conical tooth, Carious teeth, Depressed nasal bridge, Velopharyngeal insufficiency, ... OMIM:129400
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Acrocallosal Syndrome
Hypospadias, Cryptorchidism ORPHA:36
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Hypodontia, Cryptorchidism, Microdontia ORPHA:1174
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Abnormal lung lobation, Abnormal stomach morphology, Abnor... ORPHA:141127
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Recurrent pneumonia, Gastroesophageal reflux, Dental malocclusion, Recurrent urinary... OMIM:619293
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections ORPHA:221139
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Hypoplasia of the maxilla, Stage 5 chronic kidney disease, Renal insuffi... OMIM:166300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypercalciuria, Micropenis... OMIM:614732
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Renal hypoplasia/aplasia, Hyp... ORPHA:818
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Intestin... OMIM:614701
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Prominent nasal bridge,... ORPHA:776
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Neurooculorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... OMIM:620305
Acute Intermittent Porphyria
Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Ileus, Increased urinary porphob... ORPHA:79276
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Long philtrum, Intrauterine growth retardation, Anteverted nares, Narrow mouth, Ma... OMIM:219200
Zaki Syndrome
Renal agenesis, Median pseudocleft lip, Hydronephrosis, Short philtrum, High palate, Wide mouth OMIM:619648
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Long philtrum, Narrow nasal bridge, Anteverted nares, Tented ... OMIM:619383
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Abnormality of the dentition, Hypoplasia of the maxilla... ORPHA:363417
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Decreased liver function, Anteverted nares, Open mouth, Feeding difficulties i... OMIM:618437
3Mc Syndrome 3
Tessier cleft, Bifid scrotum, Cleft upper lip, Horseshoe kidney, Cryptorchidism, Penoscrotal hypo... OMIM:248340
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Respiratory distress, Proteinuria, Microscopic hematuria, Hemolytic-ur... OMIM:274150
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Male urethral meatus stenosis, Widely spaced teeth, Cryptorchidism, Smooth philtru... OMIM:616001
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depressed nasal bridge, Anteverted nares, Fulminant hepatic failure, Abdominal distention, Jaundice OMIM:618528
Weill-Marchesani Syndrome 2
Tooth malposition, Narrow palate, Cataract, Microspherophakia, Ectopia lentis, Depressed nasal br... OMIM:608328
Waardenburg Syndrome Type 1
Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Premature graying of hair, Tented ... ORPHA:894
Williams Syndrome
Carious teeth, Open bite, Death in early adulthood, Cryptorchidism, Polycystic ovaries, Everted l... ORPHA:904
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Cataract, Rhizomelia, Disproportionate short stature, Depressed nasal bridge, ... OMIM:222765
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Progeroid facial appearance, Stage 5 chronic kidney disease, Narrow mouth, Decre... OMIM:608612
Bardet-Biedl Syndrome 1
High, narrow palate, Dental crowding, Abnormality of the ovary, Decreased testicular size, Hypogo... OMIM:209900
Avian Influenza
Acute kidney injury, Respiratory distress, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Feeding difficulties, Malar flattening, Prolonged neona... OMIM:613038
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Carious teeth, Broad nasal tip, Long philtrum, Prominent veins on trunk, Postnatal growth retarda... ORPHA:357074
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Vesicoureteral reflux, Short nose, Short stature, Cleft palate, Wide nose OMIM:614261
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction, Urinary incontinence, Restlessn... OMIM:300266
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum, Widely-spaced... OMIM:618737
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Natal tooth, Volvulus, Myopic astigmatism, Micrognathia, Motor stereotypy... OMIM:617802
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors, Mandibular prognathia, Hype... ORPHA:397973
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ... ORPHA:1790
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Micrognathia, Narrow mouth, Short nose, Short stature, Cleft palate OMIM:614078
Cousin Syndrome
Hydranencephaly, Microglossia, Ambiguous genitalia, female, Alveolar ridge overgrowth, Hydronephr... OMIM:260660
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Bulbous nose, Short stature, Short philtrum, Mandibular prognathia ORPHA:93945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft lip, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Widely... OMIM:106260
Warburg Micro Syndrome 3
Cataract, Microcornea, Downturned corners of mouth, Postnatal growth retardation, Micrognathia, D... OMIM:614222
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Respiratory distress, Death in childhood, Proteinu... OMIM:617303
Achondrogenesis
Severe short stature, Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Short nose ORPHA:932
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent p... OMIM:613177
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Postnatal growth retardation, Recurrent aphthous stomatitis, Abdominal pain, ... OMIM:212750
Immunodeficiency 95
Respiratory distress OMIM:619773
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Orofacial cleft, Widely-spaced maxillary central incisors, Cleft... OMIM:601349
Orofaciodigital Syndrome Xiv
Cleft lip, Occipital encephalocele, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Uni... OMIM:615948
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Cryptorchidism, Hydronephrosis, Ecto... OMIM:101200
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Long philtrum, Umbilical hernia, Anteverted... ORPHA:93298
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Schinzel-Giedion Syndrome
Abnormality of the ureter, Streak ovary, Hepatoblastoma, High palate, Dysphagia, Hypospadias, Neu... ORPHA:798
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Cataract, Microcornea, Dental malocclusion, D... OMIM:257850
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Long philtrum, Vesicouret... ORPHA:96149
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:352665
49,Xxxxy Syndrome
Small scrotum, Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Recurrent respi... ORPHA:96264
Myhre Syndrome
Severe short stature, Bifid uvula, Gingival cleft, Cataract, Abnormal penis morphology, Unilatera... ORPHA:2588
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Abnormal lung lobation, Anencephaly, Hydronephrosis, Adrenal gland dy... OMIM:236680
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Spondylometaphyseal Dysplasia, Schmidt Type
Severe short stature, Gastroesophageal reflux, Cleft soft palate, Micrognathia, Gastrostomy tube ... ORPHA:93316
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Tented upper lip vermilion, Short philtrum, Motor stereotypy, Short nose ORPHA:85277
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Cryptorchidism,... OMIM:612541
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Homocystinuria, Methylmalonic aciduria OMIM:250940
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Postnatal growth retardation, Anteverted nares, Micrognathia, C... ORPHA:3309
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Gastroesophageal reflux, Dental crowding, Exaggerated median tongue furr... ORPHA:313892
Trisomy 8P
Bifid uvula, Nephrocalcinosis, Recurrent upper respiratory tract infections, Peripheral pulmonary... ORPHA:264450
Fetal Akinesia Deformation Sequence 2
High palate, Tented upper lip vermilion, Cryptorchidism, Cleft palate OMIM:618388
Hsd10 Disease, Infantile Type
Cyanosis, Abnormality of the lower urinary tract, Gastrointestinal dysmotility, Dysphagia, Abnorm... ORPHA:391428
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Petechiae, Prolonged neonatal jaundice, Diffuse telangiecta... OMIM:170100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Micropenis, Narrow mouth, Cryptorchidism, Thin vermilion border OMIM:612447
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Abnormal female external genitalia morphology, Crypto... ORPHA:1707
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Gastroesophageal reflux, Cutis marmorata, Malabsorption, Renal insufficiency, Na... ORPHA:183
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Renal tubu... ORPHA:2088
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Umbilical hernia, Heparan sulfate exc... OMIM:607014
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Recurrent pneumonia, Cholelithiasis, Male urethral meatus stenosis, Furrowed... ORPHA:464738
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Microphallus, Small placenta, Abnormal scrotum morphology, Cryptorchidism, Hypospa... ORPHA:397590
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Hypoplasia of the ovary, Cryptorchidism OMIM:618841
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Cleft lip, Delayed eruption of teeth, Umbilical hernia, Wid... OMIM:280000
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Feeding difficulties, High palate, Short nose OMIM:218000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Abnormality of the dentition, Long philtrum, Hydronephrosis, Smooth philtrum, Anal a... OMIM:300968
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, ... OMIM:617159
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Ureteral stenosis, Recurrent intrapulmonary hemorrhage, Renal insuff... ORPHA:900
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
48,Xxxy Syndrome
Small scrotum, Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Recurrent respi... ORPHA:96263
Microcephaly 30, Primary, Autosomal Recessive
Intrauterine growth retardation, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis, P... OMIM:620183
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Hepatic failure, Everted upper lip vermilion, Retrognathia, Intrauterine ... OMIM:608013
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Micrognathia, Cyanosis, Thin upper lip vermilion, Hypoplastic nasal tip, High ... ORPHA:3304
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Methylmalonic aciduria, Stage 5 chronic kidney disease, Tubulointerstitial ... OMIM:251000
Tetanus
Respiratory distress, Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:3299
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron... ORPHA:210122
Eec Syndrome
Carious teeth, Xerostomia, Tooth agenesis, Decreased response to growth hormone stimulation test,... ORPHA:1896
Vacterl With Hydrocephalus
Renal agenesis, Cryptorchidism, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnormal fal... ORPHA:3412
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Cyanosis, Peritonitis, Abdominal rigidity, Abdominal... ORPHA:391673
Kallmann Syndrome
Renal agenesis, Abnormal morphology of female internal genitalia, Tooth agenesis, Decreased testi... ORPHA:478
Coffin-Siris Syndrome
Wide nasal base, Postnatal growth retardation, Oral aversion, Hypospadias, Short nose, Broad nasa... ORPHA:1465
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Marshall-Smith Syndrome
Irregular dentition, Death in childhood, Prominence of the premaxilla, High palate, Short nose, C... OMIM:602535
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Pyloric stenosis, Cleft lip, Delayed eruption of teeth, Bifid scrotum,... OMIM:619148
Double Outlet Right Ventricle
Depressed nasal bridge, Intestinal malrotation, Feeding difficulties, Narrow mouth, Cyanosis, Sub... ORPHA:3426
Feingold Syndrome Type 1
Nephritis, Duodenal atresia, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Jejuna... ORPHA:391641
Kleefstra Syndrome 1
Gastroesophageal reflux, Natal tooth, Persistence of primary teeth, Cryptorchidism, Protruding to... OMIM:610253
Encephalopathy, Ethylmalonic
Ethylmalonic aciduria, Petechiae, Death in infancy, Chronic diarrhea, Acrocyanosis, Feeding diffi... OMIM:602473
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... OMIM:263200
Ovarian Fibroma
Abdominal pain, Peritonitis, Odontogenic keratocysts of the jaw, Abdominal distention ORPHA:314473
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... ORPHA:468631
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Gastroesophageal reflux, Long philtrum, Cryptorchidism, Thin upper lip vermilion, Everted lower l... OMIM:619595
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Diastema, Umbilical hernia, Cryptorchidism,... ORPHA:329224
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Long philtrum, Umbilical hernia, Abnormal scrotum morphology, Cryptorchidism, Hypo... ORPHA:2505
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Abnormal renal morphology, Hypoplastic labia majora, Fused labia minora, Vaginal a... OMIM:207410
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, High... OMIM:608670
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Trisomy 10P
Depressed nasal bridge, Gastroesophageal reflux, Abnormality of the nose, Abnormal lip morphology... ORPHA:171929
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Pentalogy Of Cantrell
Renal agenesis, Non-midline cleft of the upper lip, Absent gallbladder, Encephalocele, Anencephal... ORPHA:1335
7Q11.23 Microduplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Enuresis, Hypospadias ORPHA:96121
Charge Syndrome
Cryptorchidism, Hypoparathyroidism, Anal atresia, Dysphagia, Duodenal atresia, Parathyroid hypopl... OMIM:214800
Jacobsen Syndrome
Multicystic kidney dysplasia, Annular pancreas, Long philtrum, Intestinal malrotation, Cryptorchi... ORPHA:2308
Alternating Hemiplegia Of Childhood
Mydriasis, Diarrhea, Abdominal distention, Downturned corners of mouth, Oral-pharyngeal dysphagia... ORPHA:2131
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Renal hypoplasia, Cryptorchidism, Microdontia, Smooth philtrum, Thick vermilion border OMIM:620005
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Downturned corners of mouth, Anteriorly placed anus, Supernumerary nipple, Tented up... ORPHA:247262
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Thin upper lip vermilion, Short philtrum, Hyp... OMIM:300712
Deeah Syndrome
Narrow palate, Retrognathia, Long philtrum, Exocrine pancreatic insufficiency, Intrauterine growt... OMIM:619004
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Cardiac-Urogenital Syndrome
Bifid scrotum, Intestinal malrotation, Scimitar anomaly, Cryptorchidism, Aplasia of the uterus, A... OMIM:618280
Molybdenum Cofactor Deficiency, Type B
Decreased urinary urate, Increased urinary taurine, Ectopia lentis, Long philtrum, Short nose, In... OMIM:252160
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary hypoplasia, Lacticaciduria OMIM:619003
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Cryptorchidism, Orofacial cleft, Hypoplas... ORPHA:127
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Cataract, Nephrocalcinosis, Dental crowding, Delayed eruption of teeth, Depressed na... OMIM:300990
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Nasal regurgitation, Gastroesophageal reflux, Narrow jaw, Cyanosis, High palat... ORPHA:98914
Congenital Myasthenic Syndrome
Microretrognathia, Nasal regurgitation, Gastroesophageal reflux, Narrow jaw, Cyanosis, High palat... ORPHA:590
Schisis Association
Renal agenesis, Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Ana... ORPHA:63862
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Enuresis, Carious teeth, Renal agenesis, Downturned corners of m... OMIM:619522
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Abnormal female external ... ORPHA:235
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Renal hypoplasia/apla... ORPHA:958
Recombinant 8 Syndrome
Small scrotum, Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Gingiv... ORPHA:96167
Chromosome 16Q22 Deletion Syndrome
High palate, Hypospadias, Cryptorchidism OMIM:614541
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Renal agenesis, Bilateral cryptorchidism, Decreased testicular size,... ORPHA:2326
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract,... ORPHA:357001
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Branchial Arch Syndrome, X-Linked
High, narrow palate, High palate, Cryptorchidism OMIM:301950
Loeys-Dietz Syndrome 5
Bifid uvula, Bruising susceptibility, Retrognathia, Overhanging nasal tip, Cleft soft palate, Ten... OMIM:615582
Vater/Vacterl Association
Occipital encephalocele, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstructio... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Diastema, Furrowed tongu... OMIM:300534
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Cleft lip, IgA deposition ... OMIM:616730
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormality of the kidney, Ab... ORPHA:1772
Tetraamelia Syndrome 2
Absent nipple, Ankyloglossia, Bilateral lung agenesis, Bilateral cleft lip, Hypoplastic pulmonary... OMIM:618021
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Cryptorchidism, Short hard palate, Hypoplastic labia majora, High palate,... OMIM:180700
Macs Syndrome
Eclabion, Long philtrum, Umbilical hernia, Recurrent aphthous stomatitis, Gingival overgrowth, Cr... OMIM:613075
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Hypoplastic labia majora, Hypospadias, Downturned corners of mouth, Renal duplica... OMIM:268310
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Long philtrum, Horseshoe kidney, Thin upper lip ve... ORPHA:508498
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Prominent nasal bri... OMIM:309520
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Campomelic Dysplasia
Hydronephrosis, Male pseudohermaphroditism, Ambiguous genitalia, Cleft palate ORPHA:140
Malignant Peritoneal Mesothelioma
Abdominal pain, Peritonitis, Ileus, Abdominal distention ORPHA:168811
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves... ORPHA:95699
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Carious teeth, Ureterocele, Narrow mouth, Cryptorchidism, Microdontia, Thin upper ... OMIM:616734
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Dentinogenesis imperfecta, Periodontitis, Hydronephrosi... OMIM:619269
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Cleft palate OMIM:612370
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Cataract, Delayed eruption of teeth, Thick upper lip vermilion, Intrauterine g... OMIM:247200
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Hypodontia, Atte... OMIM:305400
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Furrowed tongue, Cryptorchidism, Short philtrum, Hypogonadotropic hypogonadism... ORPHA:1387
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Congenital Heart Block
Intrauterine growth retardation, Feeding difficulties in infancy, Cyanosis ORPHA:60041
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Vaginal fistula, Abnormal female external genitalia morphology, Renal hypoplasia/aplasia, Persist... ORPHA:1112
15Q Overgrowth Syndrome
High, narrow palate, Bifid uvula, Dental crowding, Ureterovesical stenosis, Horseshoe kidney, Nep... ORPHA:314585
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Ankyloglossia, Polyphagia, Everted lower lip vermilion, Motor stereotypy, Dysphagi... OMIM:615873
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Depressed nasal bridge, Thick lower lip vermilion, Open mouth, Submucous cleft hard ... OMIM:617412
Ruvalcaba Syndrome
Dental crowding, Intrauterine growth retardation, Narrow mouth, Hematuria, Delayed puberty, Conve... ORPHA:3121
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the or... ORPHA:543
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Decreased testicular size, Cryptorchidism, 3-Methylglutaconic aciduria... OMIM:610198
Postaxial Acrofacial Dysostosis
Conical tooth, Cleft upper lip, Supernumerary nipple, Cryptorchidism, Abnormality of the kidney, ... OMIM:263750
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Bifid uvula, High, narrow palate, Cataract, Wide nasal bridge, Delayed erup... ORPHA:2780
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Intestinal polyposis, Attention deficit hyperactivity d... ORPHA:210548
Adenylosuccinase Deficiency
Growth delay, Long philtrum, Elevated urinary succinylaminoimidazole carboxamide riboside level, ... OMIM:103050
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Micropenis, Cryptorchidism OMIM:616030
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Intrauterine growth... ORPHA:1110
Orofaciodigital Syndrome Type 4
Micrognathia, Perineal fistula, Renal hypoplasia/aplasia, Rectal atresia, Anal atresia, Rectovagi... ORPHA:2753
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Everted lower lip vermilion, Thin verm... ORPHA:1702
Kapur-Toriello Syndrome
Abnormality of the urinary system, Cleft upper lip, Intestinal malrotation, Cryptorchidism, Hypop... OMIM:244300
Acrocallosal Syndrome
Everted upper lip vermilion, Postnatal growth retardation, Narrow mouth, Open mouth, Protruding t... OMIM:200990
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Recurrent infection of the gastrointestinal tract, ... ORPHA:51890
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Recurren... OMIM:619680
Desbuquois Dysplasia 1
Severe short stature, Depressed nasal bridge, Microretrognathia, Disproportionate short-limb shor... OMIM:251450
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph... OMIM:312300
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Postnatal growth reta... OMIM:227810
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Erythema, Anteverted nares, Neonatal death, Thin vermi... OMIM:610015
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Protuberant abdomen, Disproportionate short-limb short stature, Cleft palate OMIM:184250
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermittent hyperventilati... ORPHA:348
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias OMIM:619272
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Renal cyst, Meningocele, Anencephaly, Bile duct proliferat... OMIM:603194
Oculoskeletodental Syndrome
Protein-losing enteropathy, Renal agenesis, Cryptorchidism, Oligodontia, Hypercalciuria, Mucopoly... OMIM:618440
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Hypodontia, Cryptorchidism OMIM:619310
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Horseshoe kidney, Aplasia of the epiglottis, Median cleft upper lip, Hypodontia... OMIM:617088
Succinic Acidemia
Respiratory distress OMIM:600335
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Anteverted nares, Gingi... ORPHA:363659
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Marshall Syndrome
Bifid uvula, Macrodontia of permanent maxillary central incisor, Lens luxation, Cataract, Depress... OMIM:154780
Schaaf-Yang Syndrome
Gastroesophageal reflux, Hypogonadism, Open mouth, Cryptorchidism, Abnormality of the philtrum, M... OMIM:615547
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis OMIM:181270
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia ORPHA:2141
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Hypospadias, Intrauterine growth retardation, Prominent nasal bridge, Microgna... ORPHA:251071
Filippi Syndrome
Serrated incisors, Abnormal dental morphology, Cryptorchidism, Microdontia, Hypodontia, Ambiguous... OMIM:272440
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z... ORPHA:193
Cri-Du-Chat Syndrome
Bifid uvula, Gastroesophageal reflux, Downturned corners of mouth, Thick lower lip vermilion, Cry... OMIM:123450
Diamond-Blackfan Anemia 10
Respiratory distress, Ectopic kidney, Renal duplication OMIM:613309
Cenani-Lenz Syndrome
High, narrow palate, Cataract, Abnormal dental enamel morphology, Crossed fused renal ectopia, Ma... ORPHA:3258
Autosomal Dominant Centronuclear Myopathy
Urinary incontinence, Miscarriage, Cryptorchidism, Pyloric stenosis ORPHA:169189
Proboscis Lateralis
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis ORPHA:141099
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cataract, Narrow nasal bridge, Feeding difficulties, Gastrostomy tube feeding in infancy, Hypodon... ORPHA:544503
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Abnormal mandible morphology, Submucous cleft hard palate, Abnormality of th... ORPHA:3201
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Short stature, Short ... ORPHA:2835
Kabuki Syndrome 1
Abnormality of the dentition, Anal stenosis, Anoperineal fistula, Intestinal malrotation, Crossed... OMIM:147920
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Renal hypoplasia, Villous atrophy, Hypoplasia of the thymus... ORPHA:84064
Intellectual Developmental Disorder, Autosomal Dominant 58
Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala... OMIM:618106
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Recurrent corneal erosions, Feeding difficulties in ... OMIM:223900
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Rectovaginal fistula, Iris col... ORPHA:861
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Mandibular prognathia, Hypoplasia of the zygomatic bone, Malar prominence, Renal insuff... ORPHA:2715
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Carious teeth, Hypoplasia of the maxilla, Delayed eruption of teeth... ORPHA:50814
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Carious teeth, Dental maloc... ORPHA:191
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Gastroesophageal reflux, Long philtrum, Anteriorly place... OMIM:117650
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, V... OMIM:617063
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel mo... ORPHA:1812
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Blomstrand Lethal Chondrodysplasia
Cataract, Rhizomelia, Neonatal short-limb short stature, Natal tooth, Depressed nasal bridge, Lon... ORPHA:50945
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dicarboxylic aciduria OMIM:212140
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Cryptorchidism, Death in childhood, Hypoplasia of the thymus... OMIM:214110
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Peho Syndrome
Retrognathia, Tented upper lip vermilion, Open mouth, Feeding difficulties in infancy, Short nose OMIM:260565
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Short stature, Intrauterine growth retardation, Progeroid facial appearance, Hypoplasia of the ma... OMIM:608154
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Lacticaciduria OMIM:615595
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Peritoneal Cystic Mesothelioma
Abdominal pain, Peritonitis, Constipation, Abdominal distention ORPHA:168816
Martsolf Syndrome 1
Tooth malposition, Cataract, Broad nasal tip, Depressed nasal bridge, Hypoplasia of the maxilla, ... OMIM:212720
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Retrognathia, Malabsorption, Intestinal obstruction, Death in infancy, Tri... OMIM:601675
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Anteverted nares, Micrognathia, Malar flattening, Feeding difficulties in infanc... OMIM:610536
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Imagawa-Matsumoto Syndrome
Cryptorchidism, Anteriorly placed anus, Umbilical hernia OMIM:618786
Oculodentodigital Dysplasia
Cataract, Microcornea, Carious teeth, Selective tooth agenesis, Cleft upper lip, Underdeveloped n... OMIM:164200
Leopard Syndrome 1
Micropenis, Unilateral renal agenesis, Hypospadias OMIM:151100
Cardiofaciocutaneous Syndrome 1
Open bite, Micrognathia, Open mouth, Feeding difficulties in infancy, High palate, Short nose, Ga... OMIM:115150
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Abnormality of the urinary system, Dental malocclusion, Pursed lips, Umbili... ORPHA:800
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Renal cyst, Anencephaly, Bile duct proliferation, Cleft... OMIM:611561
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Hypoplasia of the zygomatic bone, Thin upper lip vermilion, Abnormal nostril morphology,... ORPHA:1295
Molybdenum Cofactor Deficiency, Type A
Decreased urinary urate, Increased urinary taurine, Ectopia lentis, Long philtrum, Short nose, In... OMIM:252150
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Long philtrum, Anteverted nares, Thin upper lip vermilion, Everted lower lip ver... OMIM:617877
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Micrognathia, Short stature, Spina bifida occulta, Short nose ORPHA:1514
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Wiedemann-Steiner Syndrome
Wide nasal bridge, Rhizomelia, Gastroesophageal reflux, Long philtrum, Postnatal growth retardati... ORPHA:319182
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Abnormality iris morphology, Underdeveloped nasal alae, ... ORPHA:250999
Atelosteogenesis, Type I
Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Stillbirth, Microg... OMIM:108720
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Urinary glycosaminoglycan excretion, Dysphagia, Cataract, Thick nasal ... ORPHA:581
ERI1-related disease
Hydronephrosis, High palate, Vesicoureteral reflux, Velopharyngeal insufficiency OMIM:608739
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Depressed nasal bridge, Gastroesophageal reflux, Cleft upper lip, Anteve... ORPHA:261236
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Cryptorchidism, Thin vermilion border, Incisor macrodontia, Cleft pa... OMIM:615502
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Cryptorchidism, Hydronephr... OMIM:601776
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Umbilical hernia, Open mouth, Cryptorchidism, Hypospadias ORPHA:500159
Fetal Hydantoin Syndrome
Depressed nasal ridge, Intrauterine growth retardation, Everted lower lip vermilion, Short nose, ... ORPHA:1912
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Death in childhood, Death in infancy, Abdominal distention OMIM:619423
Focal Dermal Hypoplasia
Abnormality of the dentition, Multicystic kidney dysplasia, Gastroesophageal reflux, Umbilical he... ORPHA:2092
Williams-Beuren Syndrome
Open mouth, Celiac disease, Rectal prolapse, Gastroesophageal reflux, Renal insufficiency, Abnorm... OMIM:194050
Esophageal Atresia
Barrett esophagus, Choanal atresia, Cleft lip, Abnormality of the urinary system, Renal agenesis,... ORPHA:1199
Chromosome 18P Deletion Syndrome
Tooth malposition, Gonadal dysgenesis, Decreased testicular size, Cryptorchidism, Micropenis, Hig... OMIM:146390
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Macrodontia, Abnormality of the upper urinary tract, Hypodonti... ORPHA:2916
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
High palate, Hypospadias, Cryptorchidism ORPHA:98791
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal ridge, Hypoplasia of the maxilla... ORPHA:178303
Scarf Syndrome
Bifid scrotum, Umbilical hernia, Long philtrum, Cryptorchidism, Hypoplastic nipples, Hepatocellul... ORPHA:3134
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Anal atresia, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93950
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Vesicoureteral reflux, Renal insufficiency, Cryptorchidism, Protrudi... ORPHA:96147
Moebius Syndrome
Respiratory distress, Micropenis OMIM:157900
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Carious teeth, Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdom... OMIM:277440
Niemann-Pick Disease, Type A
Vomiting, Prolonged neonatal jaundice, Feeding difficulties in infancy, Constipation, Protuberant... OMIM:257200
Mirizzi Syndrome
Vomiting, Abdominal colic, Anorexia, Dark urine, Nausea, Abdominal pain, Abdominal distention, Ja... ORPHA:521219
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Short Stature-Micrognathia Syndrome
Small scrotum, Gastroesophageal reflux, Cryptorchidism, Penoscrotal hypospadias, Micropenis, High... OMIM:617164
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis OMIM:614897
Mowat-Wilson Syndrome
Tooth malposition, Ectopia pupillae, Prominent nasal tip, Abnormality of the kidney, Abdominal di... OMIM:235730
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Carious teeth, Periodontitis, Diarrhea, Oral ulcer, Tubuloin... ORPHA:79259
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Castleman Disease
Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Intestinal obstruction, Hematuria... ORPHA:160
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Cyanosis, Proteinuria, Aggressive b... ORPHA:488627
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Vomiting, Long philtrum, Bulbous nose, Anteverted nares, Smooth philtr... ORPHA:481152
Cirrhosis, Familial
Increased level of L-fucose in urine, Abdominal distention, Jaundice, Fulminant hepatitis, Esopha... OMIM:215600
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Convex nasal ridge, Conjunctivitis, Narrow palate, Ir... ORPHA:207
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
High Altitude Pulmonary Edema
Hypoxemia, Nausea and vomiting, Cyanosis, Anorexia ORPHA:330012
Robinow Syndrome, Autosomal Dominant 3
Cleft lip, Dental malocclusion, Downturned corners of mouth, Anteriorly placed anus, Long philtru... OMIM:616894
Zttk Syndrome
Narrow mouth, Feeding difficulties in infancy, High palate, Short nose, Hypoplasia of the maxilla... OMIM:617140
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Gastroesophageal reflux, Cryptorchidism OMIM:249270
Nicolaides-Baraitser Syndrome
Wide nasal base, Short lingual frenulum, Excessive wrinkled skin, Everted lower lip vermilion, Sh... OMIM:601358
Orofaciodigital Syndrome Ii
Bifid nasal tip, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the maxilla, Lobulated to... OMIM:252100
Choanal Atresia
Nasal congestion, Cyanosis, Chronic sinusitis, Choking episodes, Feeding difficulties ORPHA:137914
Elsahy-Waters Syndrome
Megalocornea, High palate, Hypospadias, Wide nose, Cataract, Hypoplasia of the maxilla, Impacted ... OMIM:211380
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Open bite, Congenital pyloric atresia, Cryptorchidism, Abnormal palate morphology ORPHA:2617
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, Cryptorchidism, Dysphagia ORPHA:494344
Sanjad-Sakati Syndrome
Abnormality of the dentition, Recurrent respiratory infections, Long philtrum, Abnormal dental en... ORPHA:2323
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Absent pulmonary artery, Cryptorchidism, Death in childhood, Shawl scrotum, Micr... OMIM:600460
Chylomicron Retention Disease
Diarrhea, Vomiting, Growth delay, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Congenital Syphilis
Cataract, Nephrotic syndrome, Diarrhea, Keratitis, Hyperplasia of the maxilla, Intrauterine growt... ORPHA:499009
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Cryptorchidism, Oligodontia, High palate, Cleft palate OMIM:600325
Arboleda-Tham Syndrome
Narrow mouth, Motor stereotypy, Dysphagia, Mandibular prognathia, Broad nasal tip, Gastroesophage... OMIM:616268
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Hereditary Methemoglobinemia
Cyanosis, Lip discoloration ORPHA:621
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Thin upper lip vermilion, Micropenis, Short p... ORPHA:163979
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Hypospadias, Cryptorchidism, Bifid scrotum OMIM:606851
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Renal cyst, Short stat... ORPHA:2031
Arthrogryposis, Distal, Type 2A
Wide nasal bridge, Whistling appearance, Dental crowding, Pursed lips, Long philtrum, Underdevelo... OMIM:193700
Fixed Drug Eruption
Vaginal mucosal ulceration, Stomatitis, Oral ulcer ORPHA:293812
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Long philtrum, Pterygium, Anteverted nares, Micrognathia, Sho... ORPHA:93329
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Gastroesophageal reflux, Widely spaced teeth, Narrow mouth, Cryptorchidism, Tented u... OMIM:300260
Frontofacionasal Dysplasia
Bifid uvula, Cataract, Microcornea, Cranium bifidum occultum, Hypoplasia of the frontal bone, Cle... OMIM:229400
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Cryptorchidism, Submucous cleft hard palate, A... ORPHA:2189
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Thoracoabdominal Syndrome
Hypospadias, Renal agenesis, Cleft upper lip, Anencephaly, Cleft palate, Pulmonary hypoplasia OMIM:313850
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Thick lower lip vermilion, Intrauterine growth retardation, Micrognath... OMIM:613804
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Spina bifida, Dysphagia, Feeding difficulties OMIM:207950
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstru... ORPHA:343
Oculodentodigital Dysplasia
Carious teeth, Micrognathia, Non-midline cleft of the upper lip, Short nose, Cataract, Microcorne... ORPHA:2710
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspirat... OMIM:616368
Smith-Kingsmore Syndrome
Depressed nasal bridge, Rhizomelia, Long philtrum, Umbilical hernia, Feeding difficulties, Open m... OMIM:616638
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Distal Duplication 17Q
Vesicoureteral reflux, Cryptorchidism, Renal duplication, Thin upper lip vermilion, Short philtru... ORPHA:3379
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, High palate, Renal dysplasia, Downturned cor... ORPHA:3310
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Precocious puberty, High, narrow palate, Gastroesophageal reflux, Dental crowding, Downturned cor... ORPHA:96182
Antley-Bixler Syndrome
Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Narrow mouth,... ORPHA:83
Greig Cephalopolysyndactyly Syndrome
Anal atresia, Hypospadias, Cryptorchidism, Umbilical hernia OMIM:175700
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Paroxys... OMIM:105830
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Supernumerary nipple, Cryptorchidism, Thin upper lip vermilion, Short philtrum, Sm... OMIM:618929
Martin-Probst Syndrome
Dental malocclusion, Bifid scrotum, Umbilical hernia, Thick lower lip vermilion, Renal insufficie... OMIM:300519
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Small scrotum, Tented upper lip vermilion, Cryptorchidism, High palate, Micropenis, Re... ORPHA:98905
Cardiofaciocutaneous Syndrome
Long philtrum, Functional abnormality of the gastrointestinal tract, Cryptorchidism, Submucous cl... ORPHA:1340
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Disproportionate short-limb short stature, Long philtr... OMIM:619479
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Convex ... ORPHA:93262
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal palate morphology ORPHA:3082
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Nasogastric tube feeding, Micrognathia, Vesicourete... ORPHA:3078
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, Cryp... OMIM:614607
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Dilatation of the renal pelvis, Interstitial emphysema, Abse... OMIM:619708
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Anosmia, Depressed nasal bridge, Short nasal septum, Short stature, Short nose OMIM:302950
Mucolipidosis Ii Alpha/Beta
Depressed nasal bridge, Myelopathy, Long philtrum, Megalocornea, Progressive alveolar ridge hyper... OMIM:252500
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Gapo Syndrome
High, narrow palate, Keratoconus, Depressed nasal bridge, Eruption failure, Long philtrum, Thick ... OMIM:230740
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Cryptorchidism, Death in infancy ORPHA:95496
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Tooth agenesis, Cryptorchidism, Abnormal palate morphology, Multiple uner... ORPHA:2063
Early Infantile Epileptic Encephalopathy
Precocious puberty, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia, Cleft palate ORPHA:1934
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus OMIM:300957
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Wide nose ORPHA:3074
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Celiac disease, Long nose, Restlessness, Hypospadi... ORPHA:2044
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Erdheim-Chester Disease
Pleural effusion, Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Abnormal pu... ORPHA:35687
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Anal stenosis, Malrotation of ... OMIM:606170
Down Syndrome
Keratoconus, Open mouth, Narrow mouth, Protruding tongue, Renal hypoplasia/aplasia, Chronic const... ORPHA:870
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria, Anorexia, Abdominal distention, Corne... ORPHA:95455
Van Esch-O'Driscoll Syndrome
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Retrognathia, Intrauterine grow... OMIM:301030
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath... ORPHA:989
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney ORPHA:2273
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Rhizomelia, Micrognathia, Malar flattening, Cl... OMIM:108721
Mcdonough Syndrome
Dental malocclusion, Open bite, Cryptorchidism, Abnormal palate morphology, Short philtrum ORPHA:2471
Bcard Syndrome
Abnormality of the dentition, Cataract, Downturned corners of mouth, Bruising susceptibility, Pos... OMIM:612394
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Delayed puberty, Short stature, Su... ORPHA:3145
Desmoplastic Small Round Cell Tumor
Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention ORPHA:83469
Ear-Patella-Short Stature Syndrome
Severe short stature, High, narrow palate, Bifid uvula, Hypospadias, Hypoplasia of the maxilla, R... ORPHA:2554
Gabriele-De Vries Syndrome
Abnormality of the dentition, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Decreased res... ORPHA:506358
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cryptorchidism, Cleft palate OMIM:164180
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Long philtrum, Thick lower lip vermilion, Prominent nose, Acrocyanosis OMIM:614407
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Depressed nasal bridge, Abnormality of the urinary system, Urete... ORPHA:2719
Stickler Syndrome, Type I
Cataract, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, ... OMIM:108300
German Syndrome
Open mouth, Cryptorchidism, Orofacial cleft, Ambiguous genitalia, Everted lower lip vermilion, Hi... ORPHA:2077
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Supernumerary nipple, Wide mouth, Cryptorchidism, Solitary median maxillary centra... ORPHA:217346
Bnar Syndrome
Renal agenesis ORPHA:217266
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Prominent nasal bridge, Aganglionic megacolon, Short nose, Micropenis, Agitation OMIM:613870
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Anterior pituitary hypoplasia, Hyp... ORPHA:3157
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Cataract, Failure of eruption of permanent teeth, Anosmia, Single... ORPHA:2250
Seckel Syndrome 1
Clitoral hypertrophy, Dental malocclusion, Dental crowding, Selective tooth agenesis, Cryptorchid... OMIM:210600
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Growth delay, Cyanosis ORPHA:2414
Diamond-Blackfan Anemia 8
Wide nasal bridge, Thick upper lip vermilion, Short stature, Growth delay, Short nose OMIM:612563
Mucopolysaccharidosis, Type Vii
Severe short stature, Recurrent upper respiratory tract infections, Widely spaced teeth, Umbilica... OMIM:253220
Cranioectodermal Dysplasia 1
High, narrow palate, Chronic kidney disease, Rhizomelia, Wide nasal bridge, Hepatic failure, Rena... OMIM:218330
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Abnormal lung morphology, High palate ORPHA:35173
Doors Syndrome
Aspiration pneumonia, Short lingual frenulum, Adrenal hyperplasia, Open mouth, High palate, Gastr... ORPHA:79500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Intrauterine growth retardation, Death in infancy, 4-Hydroxyphenylpyruvic acidur... OMIM:617156
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Xerostomia, Downturned corners of mouth... ORPHA:398079
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Intrauterine growth retardation, Ante... OMIM:612863
Perlman Syndrome
Distal ileal atresia, Renal hamartoma, Volvulus, Nephroblastomatosis, Nephrogenic rest, Everted u... OMIM:267000
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Feeding difficulties, Hyperactivity, Submucous cleft hard palate OMIM:619239
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Narrow mouth, Cryptorchidism, Short philtrum, High palate, Cleft... ORPHA:96184
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen, Gro... OMIM:264700
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Cryptorchidism OMIM:616816
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Cryptorchidism, Smooth philtrum, Thin vermilion border, Hypospadias OMIM:618109
Al-Raqad Syndrome
Thin upper lip vermilion, Narrow mouth, Short nose, Chronic constipation OMIM:616459
Pycnodysostosis
Abnormality of the dentition, Rhizomelia, Carious teeth, Disproportionate short-limb short statur... ORPHA:763
Microphthalmia With Limb Anomalies
Flared nostrils, Depressed nasal bridge, Retrognathia, Cleft upper lip, Postnatal growth retardat... OMIM:206920
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Narrow palate, Abnormality of the urinary system, Gastroesophageal reflux, Carious tee... ORPHA:353281
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Poor wound healing, Long philtrum, Narrow mouth, High palate, Short nose OMIM:615539
Digeorge Syndrome
High, narrow palate, Unilateral renal agenesis, Recurrent pneumonia, Cholelithiasis, Parathyroid ... OMIM:188400
Developmental And Epileptic Encephalopathy 111
Umbilical hernia, Cryptorchidism, Nephrolithiasis, Pulmonary artery stenosis, Recurrent respirato... OMIM:620504
Ritscher-Schinzel Syndrome 4
Wide mouth, Thick vermilion border, Cryptorchidism, Short philtrum, High palate, Micropenis, Narr... OMIM:619435
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Microdontia, Thin upper lip vermilion, Hypospadias, Cleft palate OMIM:603736
Autosomal Recessive Multiple Pterygium Syndrome
Small scrotum, Long philtrum, Umbilical hernia, Hypogonadism, Cryptorchidism, Abnormal gastrointe... ORPHA:2990
Isolated Childhood Apraxia Of Speech
High, narrow palate, Feeding difficulties, Submucous cleft hard palate ORPHA:209908
Warburg Micro Syndrome 4
Small scrotum, Long philtrum, Decreased testicular size, Narrow mouth, Cryptorchidism, Micropenis OMIM:615663
Fg Syndrome Type 1
Small pituitary gland, Gastroesophageal reflux, Abnormal large intestine morphology, Dental crowd... ORPHA:93932
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla OMIM:618302
Ogden Syndrome
Flared nostrils, Diarrhea, Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermili... OMIM:300855
Tetrasomy 18P
Long philtrum, Narrow mouth, Achalasia, Thin vermilion border, Short nose ORPHA:3307
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge, Abnormal palate morphology ORPHA:1540
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Urinary incontinence, Central apnea, Neonatal death OMIM:616482
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Fetal pyelectasis ORPHA:50810
Charge Syndrome
Gastroesophageal reflux, Delayed eruption of teeth, Bifid scrotum, Abnormal morphology of female ... ORPHA:138
Dermotrichic Syndrome
Aminoaciduria, Depressed nasal bridge, Proportionate short stature, Aganglionic megacolon, Short ... ORPHA:99688
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Anorexia, Facial telangiectasia, Intermittent jaundice, Episodic abdominal pain, Abdomi... ORPHA:100085
Microphthalmia, Syndromic 6
Small scrotum, Renal hypoplasia, Bifid uvula, Microglossia, Cryptorchidism, Female hypogonadism, ... OMIM:607932
Wilson Disease
Aminoaciduria, Sunflower cataract, Hepatic failure, Vomiting, Glycosuria, Kayser-Fleischer ring, ... OMIM:277900
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Broad nasal tip, Dental crowding, Re... OMIM:617157
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased testicular size, Cryptorchidism, Short philtrum, High ... OMIM:616222
Orofaciodigital Syndrome Type 1
Abnormality of the dentition, Multicystic kidney dysplasia, Odontogenic neoplasm, Broad alveolar ... ORPHA:2750
Pontocerebellar Hypoplasia, Type 10
Wide nasal bridge, Gastroesophageal reflux, Underdeveloped nasal alae, Widely spaced teeth, Bulbo... OMIM:615803
Leukodystrophy, Hypomyelinating, 10
Long philtrum, Bulbous nose, Anteverted nares, Malar flattening, Smooth philtrum, Thin vermilion ... OMIM:616420
Mucopolysaccharidosis, Type Ix
Short stature, Bifid uvula, Depressed nasal bridge, Submucous cleft hard palate OMIM:601492
Laryngotracheal Angioma
Vomiting, Cyanosis, Feeding difficulties ORPHA:137935
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Respiratory distress, Vesicoureteral reflu... ORPHA:508488
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Depressed nasal bridge, Postnatal growth retardation, Anteverted nares, Death in childhood, Death... OMIM:613320
Donnai-Barrow Syndrome
Depressed nasal bridge, Umbilical hernia, Intestinal malrotation, Proteinuria, Iris coloboma, Sho... ORPHA:2143
C Syndrome
Wide nasal bridge, Anteverted nares, Renal cortical cysts, Micrognathia, Thick anterior alveolar ... OMIM:211750
Schuurs-Hoeijmakers Syndrome
Volvulus, Downturned corners of mouth, Diastema, Cryptorchidism, Thin upper lip vermilion, Smooth... OMIM:615009
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Axenfeld-Rieger Syndrome, Type 1
Wide nasal bridge, Anal stenosis, Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia ... OMIM:180500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Ambiguous genitali... OMIM:613091
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Abnormal oral mucosa morphology, Wide nasal bridge, Downturned corners of mo... ORPHA:1968
Pfeiffer Syndrome
Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Dental crowding, Choanal sten... OMIM:101600
Floating-Harbor Syndrome
Varicocele, Nephrocalcinosis, Carious teeth, Downturned corners of mouth, Umbilical hernia, Gland... OMIM:136140
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Gastroesophageal reflux, Cryptorchidism, High palate ORPHA:486815
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Thick upper lip vermilion, Cryptorchidism... ORPHA:284339
Cortical Dysplasia, Complex, With Other Brain Malformations 12
High palate, Death in childhood, Cryptorchidism, Exaggerated cupid's bow OMIM:620316
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Hypernatriuria, Decreased liver function, Malnutrition, Abno... ORPHA:275761
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hypoplasia of penis, Hypospadias ORPHA:77298
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Decreased response to growth hormone stimulation test, Cryptorchidism... OMIM:241410
Poikiloderma With Neutropenia
Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Underdeveloped nasal alae, Mi... OMIM:604173
Thyroid Ectopia
Umbilical hernia, Jaundice, Constipation, Dysphagia, Abdominal distention, Short stature, Macrogl... ORPHA:95712
Leprechaunism
Megarectum, Nephrocalcinosis, Long penis, Abdominal distention, Postnatal growth retardation, Wid... ORPHA:508
Holoprosencephaly 3
Bifid uvula, Cleft lip, Hydronephrosis, Solitary median maxillary central incisor, Cleft palate OMIM:142945
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Microphallus, Hyperechogenic kidneys, Thick upper lip vermilion, Medi... OMIM:612651
Mirage Syndrome
Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, ... OMIM:617053
Branchioskeletogenital Syndrome
Carious teeth, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of mouth, Ureteral ... ORPHA:1299
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela... ORPHA:950
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Corneal scarring, Recurrent corneal e... OMIM:256810
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Natal tooth, Long philtrum, Anteverte... OMIM:145420
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Ureteral stenosis, Hydronephrosis, Stillbirth, Recu... OMIM:309350
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Long philtrum, Vesicoureteral reflux, Cryptorchidism, Thin upper lip vermilion, Sm... OMIM:609625
Beckwith-Wiedemann Syndrome
Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal c... OMIM:130650
Multiple Endocrine Neoplasia Type 2
Diarrhea, Abdominal distention, Elevated urinary norepinephrine level, Abnormal tongue morphology... ORPHA:653
Microphthalmia, Syndromic 5
Micropenis, Cleft palate, Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Cataract, Broad nasal tip, Hypoplasia of the maxilla, Gastroesophageal ref... ORPHA:79345
Camptobrachydactyly
Septate vagina ORPHA:1319
Donnai-Barrow Syndrome
Cataract, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the iris, Intestinal malrotation... OMIM:222448
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematochezia, Pleural e... OMIM:618183
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Micropenis ORPHA:2519
Apert Syndrome
Bifid uvula, Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Delayed eruption... ORPHA:87
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:3085
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Premature skin wrinkling, Intrauterin... OMIM:601559
Shwachman-Diamond Syndrome 1
Respiratory distress, Nephrocalcinosis OMIM:260400
Aicardi Syndrome
Gastroesophageal reflux, Cleft upper lip, Malabsorption, Intestinal polyposis, Prominence of the ... ORPHA:50
Breath-Holding Spells
Cyanosis OMIM:607578
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Cadds
Cataract, Intrauterine growth retardation, Micrognathia, Short nose ORPHA:369942
Blepharonasofacial Malformation Syndrome
Long philtrum, Tooth agenesis, Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate ORPHA:1252
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Frontal encephalocele ORPHA:261102
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Death in childhood, Corneal opacity, Short nose OMIM:618961
Pfeiffer Syndrome
Wide nasal bridge, Hypoplasia of the zygomatic bone, Open mouth, Short philtrum, Short stature, H... ORPHA:710
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Underdeveloped nasal alae, Umbilical hernia, Retrognathia, Bulbous ... OMIM:192430
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Vesicoureteral ref... OMIM:614749
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosis OMIM:241310
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Nasogastric tube feeding, Micrognathia, Thin upper lip vermilion, Deep philt... ORPHA:329178
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Gastroesophageal reflux, Cryptorchidism, Death in childhood, Death in infancy, ... OMIM:210710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Recurrent hand flapping, Protruding tongue, Cyanosis, Aggressive behavior, Attention deficit hype... OMIM:619580
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Long philtrum, Astigmatism, Submucous cleft hard palate, Thin upper lip... ORPHA:457279
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pelvic kidney, Cryptorchidism OMIM:613951
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access... OMIM:619142
Noonan Syndrome 13
Gastroesophageal reflux, Long philtrum, Widely spaced teeth, Cryptorchidism, Microdontia, Duplica... OMIM:619087
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Microcolon, Renal cortical hyperechogenicity, Ileal atresia, Megacystis, Anuria, Pyelo... OMIM:619351
Chronic Graft Versus Host Disease
Gastroesophageal reflux, Xerostomia, Abnormal vagina morphology, Urinary bladder inflammation, Ab... ORPHA:99921
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve... ORPHA:8
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Tented upper lip vermilion, Feeding diffi... ORPHA:314655
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, High palate, Vesicoureteral reflux, Velopharyngeal insufficiency OMIM:620663
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae, Ethylmalonic aciduria ORPHA:51188
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood, Nephrolithiasis OMIM:613848
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased... ORPHA:90791
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Narrow nose, Intrauterine growth retardation, Submucous cleft hard palate, Attention deficit hype... OMIM:618891
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Depressed nasal bridge, Mandibular prognathia, Long philtrum, Underdeveloped nasal alae... OMIM:616007
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Cryptorchidism ORPHA:178148
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Mandibular prognathia, Short nose, Wide nose ORPHA:2831
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Hydronephrosis OMIM:614921
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Occipital encephalocele, Bile duct proliferation, Cleft palate OMIM:607361
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Protruding tongue, Disproport... OMIM:200600
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Renal salt wasting, Cryptorchidism OMIM:614736
Neu-Laxova Syndrome 1
Hydranencephaly, Renal agenesis, Cleft upper lip, Thick lower lip vermilion, Small placenta, Cryp... OMIM:256520
Witteveen-Kolk Syndrome
Flared nostrils, Male urethral meatus stenosis, Hyperplasia of the maxilla, Overhanging nasal tip... OMIM:613406
Postsynaptic Congenital Myasthenic Syndromes
High palate, Cyanosis ORPHA:98913
Fg Syndrome 3
Cryptorchidism, Death in infancy, Pyloric stenosis OMIM:300406
Diamond-Blackfan Anemia 1
Renal hypoplasia, Cleft upper lip, Spina bifida occulta, High palate, Cleft palate, Colon cancer OMIM:105650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cholelithiasis, Pancreatic hypoplasia, Narrow mouth, Cryptorchidism, Hydronephr... ORPHA:83617
Frontorhiny
Cataract, Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Encep... ORPHA:391474
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Wide nasal bridge, Broad nasal tip, Long philtrum, Postnatal growth retardation, Feeding difficul... OMIM:300749
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Combined Oxidative Phosphorylation Deficiency 25
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Feeding difficulties,... OMIM:616430
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Depressed nasal bridge, Carious teeth, Delayed... ORPHA:1452
Kaufman Oculocerebrofacial Syndrome
Depressed nasal bridge, Microcornea, Carious teeth, Diastema, Intestinal malrotation, Anteverted ... OMIM:244450
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Neonatal death OMIM:602199
Nijmegen Breakage Syndrome
Recurrent pneumonia, Anal stenosis, Cleft upper lip, Recurrent urinary tract infections, Recurren... OMIM:251260
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Microphallus, Cryptorchidism, Thin upper lip vermilion, Micropenis, Short philtrum OMIM:300486
Opsismodysplasia
Renal phosphate wasting, Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short st... OMIM:258480
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Megalocornea, Bulbous nose, Prominent nasal bridge,... OMIM:609460
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia, ... OMIM:300200
Neu-Laxova Syndrome
Bifid uvula, Cataract, Depressed nasal ridge, Retrognathia, Pterygium, Intrauterine growth retard... ORPHA:2671
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Open mouth, Exaggerated cupid's bow, Hydronephrosis, Macroglossia ORPHA:254528
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Abnormal gastroi... ORPHA:404440
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Postnatal growth retardatio... OMIM:605627
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level... OMIM:300869
Marshall-Smith Syndrome
Choanal atresia, Bruising susceptibility, Retrognathia, Anteverted nares, Gingival overgrowth, Op... ORPHA:561
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Abnormality of the dentition, Depressed nasal bridge, Hypoplasia of the maxill... OMIM:608156
Atelosteogenesis Type Ii
Wide nasal base, Rhizomelia, Long philtrum, Rhizomelic arm shortening, Micrognathia, Bilateral cl... ORPHA:56304
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Anteverted nares, Gingival overgrowth, Open mouth, Agitation, Cyanosis,... OMIM:620423
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Bifid uterus, Cleft palate ORPHA:2736
Alkuraya-Kucinskas Syndrome
Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Micropenis, High palate, Short ... OMIM:617822
Letterer-Siwe Disease
Jaundice, Stomatitis, Abdominal distention OMIM:246400
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Acquired Methemoglobinemia
Abdominal pain, Vomiting, Hypoxemia, Cyanosis ORPHA:464453
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate OMIM:248390
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Large placenta, Wide mouth, Abnorm... ORPHA:1708
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst, Submucous cleft hard palate, Trismus, Short stature OMIM:609166
Rin2 Syndrome
Abnormal lip morphology, Umbilical hernia, Long philtrum, Gingival overgrowth, Irregular dentitio... ORPHA:217335
3Mc Syndrome 1
Cleft lip, Dental crowding, Cleft upper lip, Supernumerary nipple, Hydronephrosis, Spina bifida o... OMIM:257920
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Vomiting, Cyanosis OMIM:240200
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Narrow nose, Prominent nasal ... OMIM:601812
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Short philtrum, Thin vermilion border, Spina bifida occulta, Hypopla... ORPHA:2983
Viss Syndrome
Cleft soft palate, Micrognathia, Chronic constipation, Abdominal distention, Celiac disease, High... OMIM:619472
Distal Duplication 5Q
Carious teeth, Long philtrum, Prominent nasal bridge, Narrow mouth, Micrognathia, Short nose, Sho... ORPHA:96097
Meier-Gorlin Syndrome 6
Severe short stature, Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Gastroeso... OMIM:616835
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Abnormal endometrium morpholog... ORPHA:314478
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Gastroesophageal reflux, Intrauterine growth retard... OMIM:613803
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Tented upper lip vermilion, Cryptorchidism, Thin vermilion border, Dilatation of... OMIM:614294
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Deat... OMIM:612938
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Oral leukoplakia, Cryptorchidism, Urethral stricture, Abnormal pulmo... OMIM:613990
Laryngomalacia
Respiratory distress OMIM:150280
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Nausea and vomiting, Episodic abdominal pain, Abdominal distention, Jaundice ORPHA:370348
Bdv Syndrome
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619326
Ethylene Glycol Poisoning
Vomiting, Renal insufficiency, Cyanosis, Renal tubular dysfunction, Hematuria, Addictive alcohol ... ORPHA:31826
19P13.12 Microdeletion Syndrome
Precocious puberty, Long philtrum, Cryptorchidism, Hypodontia, Thin vermilion border, Hypospadias... ORPHA:254346
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Depressed nasal bridge, Mandibular prognathia, Delayed eruption of teeth, ... OMIM:268400
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Retrognathia, Long philtrum, Micrognathia, Cleft soft palate, Accessory o... ORPHA:2756
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum ORPHA:90348
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Intestinal malrotation, Pulmonary hypoplasia OMIM:601163
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Supernumerary nipple, Widely spaced teeth, Tented upper lip vermilion, Cryptorch... OMIM:612530
C Syndrome
Depressed nasal bridge, Multicystic kidney dysplasia, Long philtrum, Horseshoe kidney, Anteverted... ORPHA:1308
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Um... ORPHA:2095
Chromosome 14Q11-Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Gastroesophageal reflux, Long philtrum, Feeding diffic... OMIM:613457
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Downturned corners of mouth, Narrow mouth, Cryptorchidism, Exaggera... ORPHA:284160
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Cutis marmorata, Micrognathia, Feeding difficulties in infancy, Hig... ORPHA:199
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Meckel Syndrome, Type 4
Encephalocele, Renal cyst, Meningocele, Anencephaly, Bile duct proliferation, Cleft palate OMIM:611134
Ring Chromosome 12 Syndrome
High, narrow palate, Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Uterine leiomyoma ORPHA:1439
Familial Dysautonomia
Gastroesophageal reflux, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Gl... ORPHA:1764
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Bulbous nose, Persistence of primary teeth, Micrognat... OMIM:170390
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Tyshchenko Syndrome
High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, High palate, Cleft palate OMIM:615102
Diamond-Blackfan Anemia
Wide nasal bridge, Adenocarcinoma of the colon, Hypospadias, Cleft lip, Depressed nasal bridge, R... ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Gastroesophageal reflux, Dental crowding, Long philtrum, Bilateral cryptorchidism, Decreased test... OMIM:300998
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Hypogonadotropic hypogonadism, Micropen... OMIM:619718
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Micropenis, Dysphagia, Cryptorchidism, Death in childhood OMIM:619847
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Prominent nasal bridge, Increased overbite, High ... ORPHA:319171
Microphthalmia, Syndromic 2
Bifid uvula, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Umbil... OMIM:300166
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Long philtrum, Short nose OMIM:300887
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Respiratory distress, Elevated urine 3-hydroxypropionic acid l... OMIM:251100
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Acrocardiofacial Syndrome
Cleft upper lip, Cryptorchidism, Death in infancy, Anal atresia, Hypoplasia of penis, Hypospadias... ORPHA:2008
Lathosterolosis
Cataract, Long philtrum, Thick upper lip vermilion, Horseshoe kidney, Anteverted nares, Micrognat... OMIM:607330
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Mullegama-Klein-Martinez Syndrome
Wide nasal bridge, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Depressed nas... OMIM:301022
Absent Eyebrows And Eyelashes With Impaired Intellectual Development
Encephalocele, Convex nasal ridge, Short nose OMIM:200130
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Protuberant abdomen OMIM:613330
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Downturned corners of mouth, Malar flattening, Gastrostomy tube feeding i... OMIM:618590
Mosaic Trisomy 1
Thick lower lip vermilion, Renal cortical cysts, Penile hypospadias, Renal cyst, Orofacial cleft,... ORPHA:1692
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Anorexia ORPHA:1302
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Polycystic kidney dysplasia, ... OMIM:608776
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Dysphagia, Pulmonary hypoplasia ORPHA:171430
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Cryptorchidism, Gastroesophageal reflux OMIM:614857
Autosomal Dominant Robinow Syndrome
Open bite, Micrognathia, Anodontia, Hypospadias, Short nose, Epispadias, High, narrow palate, Abn... ORPHA:3107
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Bifid uvula, Decreased testicular size, Hypoplasia of the tooth germ, Cryptorchidism, Hypogonadot... ORPHA:293967
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Micropenis, Hypospadias OMIM:607143
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:163976
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... OMIM:309801
Dyskeratosis Congenita
Abnormality of the dentition, Cataract, Carious teeth, Periodontitis, Oral leukoplakia, Hypoplasi... ORPHA:1775
Stickler Syndrome
Open bite, Micrognathia, Short hard palate, Feeding difficulties in infancy, Short nose, Cataract... ORPHA:828
Pontocerebellar Hypoplasia, Type 7
Thick upper lip vermilion, Cryptorchidism, Ambiguous genitalia, Deep philtrum, Micropenis, High p... OMIM:614969
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Proximal renal tubular acidosis OMIM:615824
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Hematuria, Tics, High palate, Jaundice, Motor stereotypy, Iris coloboma, Hypospadi... OMIM:619475
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Supernumerary nipple, Cryptorchidism, Thin upper lip vermilion, Anal atresia OMIM:619243
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Fetal Akinesia Deformation Sequence
Cleft palate, Cryptorchidism, Intestinal hypoplasia, Pulmonary hypoplasia ORPHA:994
Ehlers-Danlos Syndrome, Classic Type, 1
Ectopia lentis, Poor wound healing, Bruising susceptibility, Umbilical hernia, Bowel diverticulos... OMIM:130000
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Colonic diverticula, Downturned corners of mouth, Anteriorly placed anus, L... OMIM:243800
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea ORPHA:70589
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:619761
Crane-Heise Syndrome
Hypoplasia of penis, Cryptorchidism, Cleft palate ORPHA:1512
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Male pseudoherm... OMIM:201810
Holoprosencephaly
Encephalocele, Feeding difficulties in infancy, Iris coloboma, Choanal atresia, Depressed nasal r... ORPHA:2162
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Death in childhood, Deat... OMIM:308205
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Renal steatosis, Ketonuria, Cyanosis OMIM:261680
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Dental crowding, Anteriorly placed anus, Umbilical hernia, Intestin... OMIM:305450
Frontometaphyseal Dysplasia
Bifid uvula, Ureteral obstruction, Oligodontia, Hydronephrosis, Spina bifida occulta, Cleft palat... ORPHA:1826
Peho Syndrome
Abnormal upper lip morphology, Gingival overgrowth, Open mouth, Anteverted nares, Abnormal palate... ORPHA:2836
Aicardi Syndrome
Cataract, Cleft upper lip, Postnatal growth retardation, Anteverted nares, Prominence of the prem... OMIM:304050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Anteverted nares, Mi... OMIM:217980
Ohdo Syndrome, X-Linked
Small scrotum, Long philtrum, Widely spaced teeth, Narrow mouth, Cryptorchidism, Microdontia, Hia... OMIM:300895
Thanatophoric Dysplasia, Type I
Protuberant abdomen, Disproportionate short-limb short stature, Lethal short-limbed short stature... OMIM:187600
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Glandular hypospadias OMIM:620306
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Rhizomelia, Bulbous nose, Intrauterine growth retardation, Micrognathia, ... OMIM:614114
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Abnormal temper... ORPHA:363611
Atelosteogenesis Type I
Pulmonary hypoplasia, Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreat... ORPHA:1190
Monosomy 9Q22.3
Cataract, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Feeding difficulties, Narro... ORPHA:77301
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Abnormal morpholog... ORPHA:538
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Ambiguous geni... OMIM:263520
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Retrognathia, Anteverted nares, Keratoconjunctivitis sicca, Hypoplasia of teeth, Gro... OMIM:234050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Depressed nasal bridge, Rhizomelia, Neonatal short-limb short stature, Protuberant abdomen, Still... OMIM:151210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidism, Chordee, Urinary inc... ORPHA:261537
Perrault Syndrome 4
Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico... OMIM:615300
Bartsocas-Papas Syndrome 1
Tessier cleft, Axillary pterygium, Anal stenosis, Popliteal pterygium, Hypoplasia of the maxilla,... OMIM:263650
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Recurrent urinary tract infections, Decreased response to growth hormone stim... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Recurrent urinary tract infections, Decreased response to growth hormone stim... ORPHA:363958
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Cryptorchidism, Exaggerated cupid's bow, Short philtrum, Micropenis,... OMIM:614230
Hajdu-Cheney Syndrome
Periodontitis, Open bite, Micrognathia, Narrow mouth, Absent frontal sinuses, Iris coloboma, Hypo... ORPHA:955
Distal Deletion 9P
High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Short nose, Hypospadias, Cl... ORPHA:1642
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Disproportionate short-limb short stature, Abdominal distention OMIM:602557
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Occipital meningocele, Accessory oral frenulum, Anencephaly, Micropenis, Pol... OMIM:616546
Laryngotracheoesophageal Cleft
Cyanosis, Choking episodes, Impaired oropharyngeal swallow response ORPHA:2004
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Conical tooth, Hypohidrotic ectodermal d... OMIM:305100
Brain-Lung-Thyroid Syndrome
Respiratory distress, Vesicoureteral reflux, Hypospadias, Megacystis ORPHA:209905
Rubinstein-Taybi Syndrome 1
Narrow mouth, Cryptorchidism, High palate, Hypospadias, High, narrow palate, Gastroesophageal ref... OMIM:180849
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Narrow mouth, Cryptorchidism, Neonatal death, Pulmonary hypoplasia OMIM:224410
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Vomiting, Acute hepatic failure, Death in infancy, Protuberant abdomen... OMIM:278000
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Chromosome 18Q Deletion Syndrome
Bifid uvula, Downturned corners of mouth, Cleft upper lip, Umbilical hernia, Decreased response t... OMIM:601808
X-Linked Mandibulofacial Dysostosis
Hypoplasia of the zygomatic bone, Prominent nasal bridge, Branchial anomaly, Micrognathia, Short ... ORPHA:1131
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Anteriorly placed anus... ORPHA:1555
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short stature, Short nose, Stereotypical hand wringing ORPHA:289266
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Long philtrum, Umbilical hernia, Cryptorchidism, 3-Methylglutaconic aciduria, Neonatal death, Dea... OMIM:614052
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Gastroesophageal reflux, Cario... OMIM:150230
Mowat-Wilson Syndrome
Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidism, Chordee, Everted low... ORPHA:2152
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Spinal dysraphism, Carious teeth, Long philtrum, Na... OMIM:114290
Occipital Horn Syndrome
Long philtrum, Ureteral obstruction, Hydronephrosis, Hiatus hernia, Bladder diverticulum, High pa... OMIM:304150
Liver Disease, Severe Congenital
Diarrhea, Micrognathia, Abdominal distention, Jaundice, Hypospadias, Aminoaciduria, Chronic gastr... OMIM:619991
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Ketonuria, Methylmalonic aciduria OMIM:251110
Osteoglophonic Dysplasia
Severe short stature, Hypospadias, Rhizomelia, Choanal atresia, Depressed nasal bridge, Eruption ... OMIM:166250
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Weill-Marchesani Syndrome 1
Tooth malposition, Cataract, Microspherophakia, Ectopia lentis, Depressed nasal bridge, Hypoplasi... OMIM:277600
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Submucous cleft hard palate,... ORPHA:2804
Arthrogryposis, Distal, Type 3
Bifid uvula, Micrognathia, Submucous cleft hard palate, Short stature, High palate, Cleft palate OMIM:114300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Thin upper lip vermilion, Abdominal distention, Chronic diarrhea OMIM:620233
Fanconi Anemia, Complementation Group A
Renal agenesis, Horseshoe kidney, Cryptorchidism, Abnormal renal morphology, Duplicated collectin... OMIM:227650
1P36 Deletion Syndrome
Gastroesophageal reflux, Annular pancreas, Long philtrum, Abnormal female external genitalia morp... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Polyphagia, Prominent nasal tip, High palate, Motor stereotypy, Short nose, Self-in... OMIM:620330
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Decreased testic... ORPHA:90794
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cle... OMIM:619122
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration OMIM:620011
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Aganglio... OMIM:613603
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Cryptorchidism ORPHA:166035
Dravet Syndrome
Cyanotic episode, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Broad nasal tip, Abnormal eating behavior, Micrognathia, Astigmatism, Se... ORPHA:293948
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Gastroesophageal reflux, Xerostomia, Do... ORPHA:398069
Cowden Syndrome 5
Cataract, Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, M... OMIM:615108
Fanconi Anemia, Complementation Group E
Renal agenesis, Horseshoe kidney, Cryptorchidism, Duplicated collecting system, Ectopic kidney, H... OMIM:600901
Gaucher Disease, Type Ii
Gastroesophageal reflux, Death in infancy, Protuberant abdomen, Trismus, Dysphagia, Feeding diffi... OMIM:230900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Cleft soft palate, Narrow mouth, Reduced subcutaneous adipose tissue, Micrognathia, Chr... OMIM:619503
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:614858
Otopalatodigital Syndrome, Type I
Wide nasal bridge, Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted te... OMIM:311300
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Umbilical hernia, Cryptorchidism, Smooth philtrum, Neurogenic bla... OMIM:130720
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hyperplasia of the maxilla, Prominent nose, Micrognathia, High palate, Feeding difficulties OMIM:620194
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depressed nasal bridge, Recurrent upper respiratory tract infections, Po... ORPHA:293987
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Orofaciodigital Syndrome I
Carious teeth, Cleft upper lip, Myelomeningocele, Ankyloglossia, Hamartoma of tongue, Agenesis of... OMIM:311200
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Hepatoblastoma, Anal atre... OMIM:312870
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Delayed eruption of teeth, Postnatal growth retardation, Enamel hypopl... ORPHA:289157
Scarf Syndrome
Bifid scrotum, Umbilical hernia, Long philtrum, Cryptorchidism, Hypoplastic nipples, Enamel hypop... OMIM:312830
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Reduced subcutaneous adipose tissue, Neonatal deat... OMIM:612289
X-Linked Intellectual Disability, Pai Type
Recurrent respiratory infections, Hydrocele testis, Narrow mouth, Cryptorchidism ORPHA:85322
Colchicine Poisoning
Respiratory distress, Oliguria, Renal insufficiency ORPHA:31824
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Respiratory distress, Renal insufficiency, Tachypnea, Glomeru... ORPHA:36234
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cataract, Depressed nasal bridge, Long philtrum, Megalocornea, Narrow mouth, Malar flattening, Th... OMIM:601353
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Organic aciduria ORPHA:79241
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Feeding difficulties, Micrognathia, Tented upper lip vermilion, Smooth philtrum, H... OMIM:617527
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Supernumerary nipple, Cryptorchidism, Wide mouth, Widely-spaced incisors OMIM:617635
Histiocytoid Cardiomyopathy
Vomiting, Megalocornea, Cyanosis, Renal cyst, Corneal opacity, Congenital aphakia, Cleft palate ORPHA:137675
Intellectual Developmental Disorder, Autosomal Dominant 42
Ureteropelvic junction obstruction, Hydronephrosis, Short philtrum, Neurogenic bladder, High pala... OMIM:616973
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Ellis-Van Creveld Syndrome
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Hypodontia, Abnormal alv... OMIM:225500
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism OMIM:620073
Primary Hyperoxaluria
Chronic kidney disease, Abnormality of the dentition, Aciduria, Abnormal dental pulp morphology, ... ORPHA:416
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose DECIPHER:52
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Gastroesophageal reflux, Increased circulating prolactin concentration, Aspir... ORPHA:438213
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate... ORPHA:635
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Mesomelic/rhizomelic limb shortening, Severe short-limb dwarfism, Cleft palate ORPHA:2347
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Growth delay, Hypoplasia of the zygomatic bone... ORPHA:920
Orofaciodigital Syndrome Type 2
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Tongue nodules, Peg-shaped maxillar... ORPHA:2751
Mietens Syndrome
Severe short stature, Cataract, Microcornea, Wide nasal bridge, Corneal opacity, Sclerocornea, Sh... ORPHA:2557
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Respiratory distress, Decreased glomerular filtration rate, R... OMIM:614748
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Self-mutilation, Multiple gastric polyps, Prolonged neonatal jaundice, Feedi... OMIM:225750
X-Linked Acrogigantism
Polyphagia, Delayed puberty, Diastema, Abdominal distention ORPHA:300373
Tricuspid Atresia
Cyanosis ORPHA:1209
Chime Syndrome
Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hydronephrosis, Hypodontia... ORPHA:3474
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Uterine rupture, Emphysema,... OMIM:130050
Gallbladder Neuroendocrine Tumor
Anorexia, Intermittent jaundice, Episodic abdominal pain, Abdominal distention, Nausea ORPHA:100086
Cutis Laxa, Autosomal Recessive, Type Iic
Nephrocalcinosis, Broad nasal tip, Dental crowding, Broad columella, Long philtrum, Narrow naris,... OMIM:617402
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Rhizomelia, Intrauterine growth retardation, Short stature, Short nose OMIM:300863
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Dental malocclusion, Cryptorchidism, Hypoplasia of teeth, Hypogonadotropic hypogonadis... OMIM:603457
Walker-Warburg Syndrome
Bifid uvula, Cataract, Microcornea, Submucous cleft hard palate, Corneal opacity, Hypoplasia of p... ORPHA:899
Hereditary Bullous Dystrophy, Macular Type
Cataract, Growth delay, Corneal opacity, Short stature, Acrocyanosis ORPHA:1867
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Feeding difficulties, Micrognathia, Short nose ORPHA:1129
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Enlarged kidney OMIM:261740
Lig4 Syndrome
Micropenis, Recurrent respiratory infections, Cryptorchidism OMIM:606593
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... ORPHA:228396
Lig4 Syndrome
Thin vermilion border, Hypoplasia of penis, Cryptorchidism ORPHA:99812
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine, Extrapulmonary lobar s... OMIM:200995
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Keratitis, Deviated nasal septum, Conjunctivitis, Hig... OMIM:123500
Ring Chromosome 7 Syndrome
Wide nasal bridge, Bifid uvula, Hypospadias, Mandibular prognathia, Narrow naris, Short nose, Ant... ORPHA:1449
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Greenberg Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Rhizomelia, Disproportionate short-limb short stat... OMIM:215140
9Q33.3Q34.11 Microdeletion Syndrome
Small scrotum, Tented philtrum, Esophagitis, Narrow mouth, Cryptorchidism, Abnormality of the kid... ORPHA:495818
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, He... ORPHA:505248
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Respiratory distress, Decreased gl... ORPHA:340
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Conical tooth, Abnormality of the dentition, Hypogonadism, Encephalocele, Cryptorc... ORPHA:228390
Native American Myopathy
Bifid uvula, Gastroesophageal reflux, Downturned corners of mouth, Feeding difficulties, Microgna... ORPHA:168572
Hereditary Spherocytosis
Jaundice, Abdominal pain, Growth delay, Abdominal distention ORPHA:822
Rhombencephalosynapsis
Microretrognathia, Anteverted nares, Narrow mouth, Aganglionic megacolon, Abnormal renal morpholo... ORPHA:59315
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Smooth philtrum, Mandibula... ORPHA:1778
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Carious teeth, Natal tooth, Cryptorchidism, Abnormality of the kidney, High palate, Hypospadias, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Carious teeth, Natal tooth, Cryptorchidism, Abnormality of the kidney, High palate, Hypospadias, ... ORPHA:353277
Pauci-Immune Glomerulonephritis
Acute kidney injury, Crescentic glomerulonephritis, Decreased glomerular filtration rate, Renal i... ORPHA:93126
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Feeding difficulties in infancy, Bilateral renal dysplasia, Dysphagia, Short nose, Hypoplasia of ... ORPHA:500150
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Occipital encephalocele, Decreased testicular size, Hydronephrosis,... OMIM:615287
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Depressed nasa... ORPHA:2399
Toriello-Carey Syndrome
Anteriorly placed anus, Postnatal growth retardation, Intrauterine growth retardation, Micrognath... ORPHA:3338
Warburg Micro Syndrome 2
Cataract, Microcornea, Postnatal growth retardation, Prominent nasal bridge, Developmental catara... OMIM:614225
Hydatidiform Mole
Enlarged uterus, Miscarriage ORPHA:99927
Cowden Syndrome 6
Cataract, Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, M... OMIM:615109
Menke-Hennekam Syndrome 1
Everted upper lip vermilion, Micrognathia, Chronic constipation, High palate, Short nose, Catarac... OMIM:618332
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Retrognat... OMIM:301044
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Multiple glomerular cysts, Episodic respiratory distress, Abnormal renal tubule morphology... ORPHA:255210
Van Den Ende-Gupta Syndrome
High, narrow palate, Depressed nasal bridge, Hypoplasia of the maxilla, Dental crowding, Dilatati... OMIM:600920
Cog5-Cdg
Urinary incontinence, Cryptorchidism, Neurogenic bladder, Micropenis, High palate ORPHA:263487
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Abdomina... ORPHA:309031
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Large placenta, Narrow mouth, Micrognathia, Wide nose, Hypoplasia o... ORPHA:96334
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Anteverted nares, Thick vermilion border, Short stature, Spina bifid... ORPHA:1185
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Gastroesophageal reflux, Dental crowding, Horseshoe kidney, Open bite, Penile hypospadias, Crypto... OMIM:620083
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, 3-Methylglutaconic aciduria OMIM:616271
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia OMIM:615415
Idiopathic Hypereosinophilic Syndrome
Vomiting, Abdominal distention, Angioedema, Cutis marmorata, Malabsorption, Feeding difficulties ... ORPHA:3260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Rieger anomaly, Malar flattenin... OMIM:109120
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Cyanosis, Hypospadias, Scrotal hypospadias OMIM:250790
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Death in childhood, Prominence ... OMIM:614437
Prolidase Deficiency
Depressed nasal bridge, Depressed nasal ridge, Carious teeth, Erythema, Hypoplasia of the zygomat... ORPHA:742
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Annular pancreas, Renal agenesis, Horseshoe kidney, Cryptorchidism,... OMIM:227646
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Ileal atresia, Gonadal dysgenesis, Long philtrum, Streak ... OMIM:618820
Polyembryoma
Abdominal pain, Abdominal distention ORPHA:180229
Plaa-Associated Neurodevelopmental Disorder
Long philtrum, Feeding difficulties, Micrognathia, Tented upper lip vermilion, Smooth philtrum, H... ORPHA:521426
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
X-Linked Centronuclear Myopathy
Respiratory distress ORPHA:596
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Gastroesophageal reflux, Emphysema, Breast hypoplasia, Narrow mouth, Crypto... OMIM:224690
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia... OMIM:181450
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia OMIM:601809
Autosomal Dominant Popliteal Pterygium Syndrome
Small scrotum, Fibrous syngnathia, Lip pit, Bifid scrotum, Cryptorchidism, Thin upper lip vermili... ORPHA:1300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental... ORPHA:1071
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Multicystic kidney dysplasia, Ectopia pupillae, Open mouth, Axenfeld anomaly, ... ORPHA:261552
Sotos Syndrome
High, narrow palate, Narrow palate, Gastroesophageal reflux, Cryptorchidism, Advanced eruption of... OMIM:117550
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Dental crowding, Thick lower lip vermilion, Narrow ... ORPHA:3063
Pancreatoblastoma
Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Jaundice ORPHA:677
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Open mouth, Cryptorchidism, Hematuria, Everted lower lip... ORPHA:534
Monosomy 9P
Abnormality of the dentition, Long philtrum, Ureteropelvic junction obstruction, Cryptorchidism, ... ORPHA:261112
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, High palate, Hypoplasia... ORPHA:251066
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Long philtrum, Penile freckling, High palate, Short nose OMIM:605309
Weiss-Kruszka Syndrome
Anteverted nares, Exaggerated cupid's bow, Short nose, Broad philtrum, Feeding difficulties OMIM:618619
Uruguay Faciocardiomusculoskeletal Syndrome
Retrognathia, Hyperplasia of the maxilla, Prominent nose, Everted lower lip vermilion, Thick verm... OMIM:300280
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Progeroid facial appearance, Micrognathia, Narrow mouth, Delayed pu... ORPHA:90154
Cocaine Intoxication
Acute kidney injury, Respiratory distress, Hematuria, Proteinuria, Tachypnea, Glomerulonephritis,... ORPHA:90068
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco... OMIM:614207
Multiple Pterygium Syndrome, Escobar Variant
Dental malocclusion, Downturned corners of mouth, Long philtrum, Umbilical hernia, Narrow mouth, ... OMIM:265000
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Microcornea, Bruising susceptibility, Umbilical hernia, Cleft soft palate, Bladder diverticulum, ... OMIM:614557
Lujo Hemorrhagic Fever
Respiratory distress, Microscopic hematuria, Oliguria, Renal insufficiency ORPHA:319213
Faciocardiorenal Syndrome
Horseshoe kidney, Narrow mouth, Smooth philtrum, Hypodontia, Cleft palate ORPHA:1973
Specc1L-Related Hypertelorism Syndrome
Long philtrum, Umbilical hernia, Female pseudohermaphroditism, Cryptorchidism, Advanced eruption ... ORPHA:1519
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Anteverted nares, Prominent nasal bridge, Proportionate short stature, Deep ... OMIM:227330
Ileal Neuroendocrine Tumor
Intestinal fistula, Zollinger-Ellison syndrome, Hydronephrosis, Small intestine carcinoid, Gastro... ORPHA:100078
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tented upper lip vermilion ORPHA:896
Limb-Mammary Syndrome
Bifid uvula, Absent nipple, Cleft lip, Breast aplasia, Aplasia of the ovary, Submucous cleft soft... ORPHA:69085
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Abdominal distention ORPHA:309263
Pfeiffer Syndrome Type 2
Choanal atresia, Depressed nasal bridge, Intestinal malrotation, Malar flattening, High palate, A... ORPHA:93259
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Orofacial Cleft 15
Palate fistula, Cryptorchidism, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral ... OMIM:616788
Jacobsen Syndrome
Hypospadias, Microcornea, Depressed nasal bridge, Intrauterine growth retardation, Anteverted nar... OMIM:147791
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Thick lower lip vermilion, Persistence of primar... ORPHA:2785
Hatipoglu Immunodeficiency Syndrome
Hypospadias, Cryptorchidism, Recurrent bronchitis OMIM:620331
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Depressed nasal bridge, Disproportionate short stature, Long philtrum, Horseshoe kidney, Bulbous ... ORPHA:508533
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration OMIM:604377
Primary Sjögren Syndrome
Usual interstitial pneumonia, Xerostomia, Bronchitis, Abnormal pulmonary interstitial morphology,... ORPHA:289390
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Dental crowding, Widely spaced teeth, Narrow nasal ... OMIM:300967
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Bifid uvula, High, narrow palate, Hypospadias, Abnormal penis morphology, C... ORPHA:2658
Spondyloepimetaphyseal Dysplasia, Shohat Type
Severe short stature, Disproportionate short stature, Abdominal distention ORPHA:93352
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Encephalocele, Cryptorchidism, Miscarriage, Cleft palate, Pulmonary hypoplasia ORPHA:1865
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Methylmalonic aciduria, Respiratory distress, Apnea,... ORPHA:17
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Defect Type 23
Feeding difficulties in infancy, Cyanosis ORPHA:444013
Fucosidosis
Abnormality of the dentition, Vascular skin abnormality, Mucopolysacchariduria, Corneal opacity, ... ORPHA:349
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Hypoplasia of the zygomatic bone, Intrauterine growth retardat... ORPHA:556955
Carpenter Syndrome
Abnormal reproductive system morphology, External genital hypoplasia, Cryptorchidism, Umbilical h... ORPHA:65759
Monosomy 22Q13.3
Gastroesophageal reflux, Dental malocclusion, Dental crowding, Umbilical hernia, Recurrent pyelon... ORPHA:48652
Spondylocarpotarsal Synostosis Syndrome
Cataract, Broad nasal tip, Failure of eruption of permanent teeth, Anteverted nares, Renal cyst, ... OMIM:272460
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Hypernatriuria, Recurrent urinary tract infections, Az... ORPHA:361
Cleft Soft Palate
Cleft soft palate OMIM:119570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Supernumerary nipple, Widely spaced teeth, Open mouth, Cryptorchidism, D... OMIM:610954
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Moderate albuminuria, Hypogonadism, External genital hypoplasia, Gingival overgrow... OMIM:614231
Pterygium Colli, Isolated
Short nose OMIM:177990
Tuberous Sclerosis Complex
Chronic kidney disease, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency... ORPHA:805
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Furrowed tongue, Ves... OMIM:616975
Hajdu-Cheney Syndrome
Hypospadias, Dental malocclusion, Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow... OMIM:102500
Congenital Myopathy 9A
Cryptorchidism, Death in infancy OMIM:618822
Pontocerebellar Hypoplasia, Type 2E
Facial telangiectasia, Micrognathia, Short stature, Short nose, Wide nose OMIM:615851
Ring Chromosome 13 Syndrome
Bifid scrotum, Anencephaly, Short philtrum, Ambiguous genitalia, Anal atresia, Urogenital sinus a... ORPHA:96176
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Long philtrum, Subcutaneous hemorrhage, Anteverted nares, Cu... ORPHA:109
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Intrauterine growth retarda... ORPHA:436252
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Dental crowding, Retrognathia, Micrognathia, Tented upper lip vermilion, Trian... OMIM:620369
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Cockayne Syndrome Type 1
Abnormality of the dentition, Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the p... ORPHA:90321
Coffin-Lowry Syndrome
Narrow palate, Mandibular prognathia, Dental malocclusion, Thick nasal septum, Broad columella, T... OMIM:303600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cataract, Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal b... ORPHA:306542
Distal Deletion 15Q
Abnormality of the dentition, Multicystic kidney dysplasia, Cryptorchidism, Thin upper lip vermil... ORPHA:1596
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Downturned corners of mouth, Wide mouth, Vesicoureteral ref... ORPHA:163956
Craniofrontonasal Syndrome
Abnormality of the dentition, Cleft upper lip, Umbilical hernia, Breast hypoplasia, Cryptorchidis... OMIM:304110
Ayme-Gripp Syndrome
Wide nasal bridge, Abnormality of the dentition, Craniofacial asymmetry, Depressed nasal bridge, ... OMIM:601088
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Micrognathia, Short lingual frenulum, Narrow mouth, High palate, Corneal ulceratio... ORPHA:740
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Horseshoe kidney, ... ORPHA:444077
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Oliguria, Cyanosis, Dicarboxylic aciduria ORPHA:159
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Bowel incontinence, Abdominal distention ORPHA:309271
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Mosaic Trisomy 20
Cleft lip, Horseshoe kidney, Cryptorchidism, Abnormality of the kidney, Cleft palate ORPHA:1724
Ovarian Hyperstimulation Syndrome
Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention ORPHA:64739
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia,... OMIM:613717
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia OMIM:267430
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Gastroesophageal reflux, Tented philtrum, Anteriorly placed anus, Long philtrum, Abs... ORPHA:495875
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cryptorchidism, Death in infancy, Renal cyst, Hypoplastic nipples, Cleft pa... OMIM:614866
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Woodhouse-Sakati Syndrome
Decreased testicular size, Anodontia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of th... OMIM:241080
Fanconi Anemia, Complementation Group C
Renal agenesis, Horseshoe kidney, Cryptorchidism, Duplicated collecting system, Ectopic kidney, H... OMIM:227645
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Secretory diarrhea, Abdominal distention OMIM:214700
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney ORPHA:140952
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Exocrine pancreatic insu... OMIM:618500
Cowden Syndrome 1
Cataract, Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, M... OMIM:158350
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea ORPHA:2759
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Oligosacchariduria ORPHA:308552
Nipah Virus Disease
Respiratory distress ORPHA:99825
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Prominent scalp veins, Narrow mouth, Reduced subcutaneous adipose tissue, Hypospadia... ORPHA:3455
Coffin-Siris Syndrome 12
Hypospadias, Depressed nasal bridge, Gastroesophageal reflux, Velopharyngeal insufficiency, Under... OMIM:619325
Hypotonia, Ataxia, And Delayed Development Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Thick lower lip vermilion, Thick upper lip ... OMIM:617330
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Short philtrum, Micropenis, High palate, Wide mouth OMIM:620224
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Nephrotic syndrome, Membranous nephropathy, Tubulointerstitial nephritis ORPHA:37042
X-Linked Intellectual Disability, Seemanova Type
Hypogonadism, High palate, Cryptorchidism ORPHA:85323
Geroderma Osteodysplasticum
Severe short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Pro... OMIM:231070
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Recurrent upper respiratory tract infections, Conjunctivitis, Progeroid facial appearan... OMIM:256040
Primary Biliary Cholangitis
Hepatic failure, Dermatographic urticaria, Jaundice, Gastrointestinal inflammation, Abdominal dis... ORPHA:186
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis, Gastroesophageal reflux ORPHA:2032
Acromelic Frontonasal Dysplasia
Hypopituitarism, Median cleft palate, Encephalocele, Cryptorchidism, Median cleft upper lip, Ante... ORPHA:1827
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,... OMIM:608149
Arterial Tortuosity Syndrome
Keratoconus, Gastroesophageal reflux, Esophagitis, Median cleft palate, Malar flattening, Hiatus ... ORPHA:3342
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Abnormality of the dentition, Rhizomelia, Posterior subcapsular cataract, Disproportionate short-... OMIM:271510
Desmosterolosis
Rhizomelia, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Alveolar ridge overgrowth, ... OMIM:602398
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Respiratory distress, Renal insufficiency, Glomerulopathy, Hem... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Renal dysplasia, Cleft upper lip, Cryptorchidism, Anal atresia, Hypoplas... OMIM:236670
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Unilateral renal agenesis, D-2-hydroxyglutaric aciduria ORPHA:99646
Lipodystrophy, Familial Partial, Type 7
Cataract, Diarrhea, Vomiting, Progeroid facial appearance, Facial wrinkling, Cutis marmorata, Dec... OMIM:606721
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Vomiting, Growth delay, Cyanosis, 3-hydroxydicarboxylic aciduria, Death in infan... OMIM:252010
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Gastroesophageal reflux, Long phil... OMIM:620568
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Depressed nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip vermilion, B... OMIM:309590
Aymé-Gripp Syndrome
Cataract, Depressed nasal bridge, Long philtrum, Megalocornea, Postnatal growth retardation, Narr... ORPHA:1272
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea ORPHA:178320
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... ORPHA:3464
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Gastroesophageal reflux, Dental malocclusion, Umbilical hernia, Anteve... OMIM:182212
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose OMIM:618087
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Prominent nasal bridge, Convex nasa... ORPHA:794
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Short nose, Short stature, Broad philtrum, Wide mouth, Cleft palate, Wide nose ORPHA:1394
Diets-Jongmans Syndrome
Umbilical hernia, Wide mouth, Cryptorchidism, Thin upper lip vermilion, Hypospadias, Duodenal atr... OMIM:618846
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Recurrent upper respiratory tract infections, Disproportionate ... ORPHA:239
Autosomal Recessive Faciodigitogenital Syndrome
Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Micrognathia, Deep philtrum, ... ORPHA:1974
Sponastrime Dysplasia
Cataract, Rhizomelia, Hypospadias, Disproportionate short-limb short stature, Depressed nasal bri... ORPHA:93357
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis ORPHA:2302
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Short lingual frenulum, Abnormal reproductive system morphology, Bifid uter... ORPHA:1521
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Intestinal malrotation, Cryptorchidism, Protruding tongue, Short phi... OMIM:300963
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypospadias OMIM:123790
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Death in childhood OMIM:211530
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Long philtrum, Tented upper lip vermilion, Cryptorchidism, Thin upper lip vermilion, Short philtr... OMIM:619244
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Dyskeratosis Congenita, X-Linked
Carious teeth, Oral leukoplakia, Premature loss of teeth, Horseshoe kidney, Decreased testicular ... OMIM:305000
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Narrow mouth, Cryptorchidism, Hydronephrosis, Spina bifida, Stillbirth, Hypospa... OMIM:304120
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Tularemia
Respiratory distress ORPHA:3392
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Microcornea, Carious teeth, Depressed nasal bridge, Bruising susceptib... ORPHA:536467
Pyknoachondrogenesis
Depressed nasal ridge, Craniofacial hyperostosis, Abnormality of mouth shape, Abdominal distention ORPHA:3003
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Depressed nasal bridge, Tented upper lip vermilion, Malar flattening, Thick vermilion border, Sho... OMIM:616723
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism OMIM:601794
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hypogonadism, Gastroesophageal reflux, Micropenis, Cryptorchidism ORPHA:500055
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Short nose OMIM:611936
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea ORPHA:411703
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anal stenosis, Anteriorly placed anus OMIM:248450
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Dend Syndrome
Vomiting, Downturned corners of mouth, Long philtrum, Anteverted nares, Short nose ORPHA:79134
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Depressed nasal bridge, Cleft lip, Hypoplasia of the maxilla, Bilateral choanal ... OMIM:616462
Jaberi-Elahi Syndrome
Triangular mouth, Cataract, Depressed nasal bridge, Short nose OMIM:617988
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis OMIM:250800
Branchiooculofacial Syndrome
Premature graying of hair, Postnatal growth retardation, Micrognathia, Short nasal septum, Hyposp... OMIM:113620
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Vomiting, Feeding difficulties, Self-mutilation, Thin upper lip vermilio... ORPHA:522077
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Short philtrum, Neurogenic bladder, Deep ph... OMIM:617137
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Bifid uvula, Retrognathia, Bulbous nose, Prominent nose, Micrognathia, Subm... ORPHA:3047
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Gastroesophageal reflux, Cryptorchidism OMIM:620012
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Pelvic kidney, Dilatation of renal calices ORPHA:466943
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Delayed eruption of teeth, Peripheral opacification of the cornea, Bul... OMIM:259600
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Feeding difficulties in infancy, High palate, Hypospadias, Dysphagia, Ectopic kidney,... OMIM:607872
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Feeding difficulties in infancy, Constipation, Abdominal distention, Macrogloss... OMIM:218700
Mucolipidosis Type Ii
Depressed nasal bridge, Umbilical hernia, Postnatal growth retardation, Gingival overgrowth, Gast... ORPHA:576
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Treacher Collins Syndrome 1
Choanal atresia, Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Wide mouth, Abn... OMIM:154500
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Downturned corners of mo... OMIM:194190
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Cryptorchidism ORPHA:1338
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Downturned corners of mouth, Supernumerary nipple, Widely spaced teeth, Cryptorchidism, Thin uppe... OMIM:616728
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst... OMIM:208500
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Arthrogryposis, Distal, Type 12
Dental crowding, Cryptorchidism, High palate, Hydrocele testis, Agenesis of maxillary incisor OMIM:620545
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Abnormality of the pulmonary artery, Spina bifida occulta, Abnormal localization ... ORPHA:500
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Carious teeth, Downturned corners of mouth, Decreased response... OMIM:176270
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Deep philtrum ORPHA:1237
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cleft upper lip, Cryptorchidism, High palate, Polycystic kidney... ORPHA:3103
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Gastroesophageal reflux, Renal agenesis, Long philtr... OMIM:134780
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the dentition, Posterior subcapsular cataract, Depressed nasal bridge, Long philtr... ORPHA:536471
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Umbilical hernia, Cryptorchidism, Thin upper lip vermilion, Deep philtrum, ... OMIM:613884
Chromosome 16P13.3 Duplication Syndrome
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Long philtrum, Bulbous nose, Anteverted n... OMIM:613458
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Prader-Willi Syndrome
Precocious puberty, Small scrotum, Small pituitary gland, Abnormality of the dentition, Xerostomi... ORPHA:739
Hartsfield Syndrome
Cleft upper lip, Cryptorchidism, Gonadotropin deficiency, Median cleft upper lip, Micropenis, Hyp... OMIM:615465
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Pr... OMIM:616682
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormality of the dentition, Tooth malposition, Long philtrum, Gingival overgrowth, Thick vermil... ORPHA:480880
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Anteriorly placed anus, Cryptorchidism, Chordee, Enam... OMIM:151050
Q Fever
Respiratory distress, Hematuria ORPHA:781
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Long philtrum, Absent pulmonary artery, Death in infancy, Hydronephros... OMIM:610682
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Acute kidney injury, Oliguria, Spontaneous pneumothorax, Recurrent pn... ORPHA:731
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Galactosuria, Organic aciduria, Downturned corners of mouth, Cryptorchidism, Short... ORPHA:85276
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Respiratory distress, Renal tubular acidosis, Prote... ORPHA:358
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Biliary, Renal, Neurologic, And Skeletal Syndrome
Depressed nasal bridge, Gastroesophageal reflux, Dilatation of the renal pelvis, Hyperechogenic k... OMIM:619534
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Horseshoe kidney, Renal agenesis, Enlarged kidney OMIM:306955
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Renal insufficiency, Cyanosis, Death in infancy OMIM:617478
Mesomelia-Synostoses Syndrome
Hydronephrosis, Short umbilical cord, Absent uvula OMIM:600383
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea ORPHA:36238
Vascular Ehlers-Danlos Syndrome
Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, Cryptorchidism, Abnormal intestine m... ORPHA:286
Myhre Syndrome
Cataract, Hypoplasia of the maxilla, Cleft lip, Intrauterine growth retardation, Prominent nasal ... OMIM:139210
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Umbilical hernia, Cryptorchidism, Smooth philtrum, High pal... ORPHA:2789
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Prominent nose, Bladder diverticulum, Palmoplantar cutis laxa, Abnorm... ORPHA:2976
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Wolf-Hirschhorn Syndrome
Abnormality of the urinary system, Downturned corners of mouth, Abnormal lip morphology, Cleft up... ORPHA:280
Listeriosis
Respiratory distress, Acute kidney injury, Pyelonephritis, Miscarriage ORPHA:533
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Gastroesophageal reflux, Everted upper lip vermilion, Hyperplasia of the ... ORPHA:513456
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Megalocornea, Umbilical hernia, An... ORPHA:1101
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Abnormality of canine, Supernumerary nipple, Widely spaced teeth, Cryptorchidism, Abnormal palate... ORPHA:477993
Mend Syndrome
Smooth philtrum, Crossed fused renal ectopia, Cryptorchidism, High palate OMIM:300960
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Classical Ehlers-Danlos Syndrome
Abnormal cornea morphology, Poor wound healing, Bruising susceptibility, Abnormality of the tempo... ORPHA:287
Tolchin-Le Caignec Syndrome
Wide nasal bridge, Umbilical hernia, Prominent nose, Micrognathia, Narrow mouth, Submucous cleft ... OMIM:618971
Chitayat Syndrome
Respiratory distress OMIM:617180
Craniolenticulosutural Dysplasia
Bifid uvula, Gastroesophageal reflux, Carious teeth, Delayed eruption of teeth, Long philtrum, Wi... OMIM:607812
Holoprosencephaly 13, X-Linked
Gastroesophageal reflux, Micrognathia, Median cleft palate, Submucous cleft hard palate, Median c... OMIM:301043
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypoplasia of the zygomatic bone, Long philtrum, Postnatal growth retardation, Short stature, Thi... OMIM:614800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Vomiting, Gastroesophageal reflux, Cyanosis, Death in childhood, Death in infancy, Feeding diffic... OMIM:618426
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Pulmonary Arteriovenous Malformation
Epistaxis, Gastrointestinal infarctions, Cyanosis, Telangiectasia, Hypoxemia ORPHA:2038
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Dominant Beta-Thalassemia
Depressed nasal bridge, Abnormality of the dentition, Diarrhea, Hyperplasia of the maxilla, Malar... ORPHA:231226
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Macular purpura ORPHA:49566
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Occipital meningocele, Cryptorchidism, Aplasia of the uterus, Anter... OMIM:276820
Kbg Syndrome
Long philtrum, Macrodontia, Tented upper lip vermilion, Cryptorchidism, Oligodontia, Widely-space... OMIM:148050
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Short nose OMIM:256600
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the dentition, Depressed nasal bridge, Tented upper lip vermilion, Malar flattenin... ORPHA:457395
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Slc35A1-Cdg
Respiratory distress ORPHA:238459
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Distal Deletion 3P
Downturned corners of mouth, Long philtrum, Umbilical hernia, Cryptorchidism, Thin vermilion bord... ORPHA:1620
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Recurrent pneumonia, Natal tooth, Dental malocclusion, Select... OMIM:234100
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Prominent scalp veins, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tiss... OMIM:264090
Congenital Tricuspid Valve Dysplasia
Cyanosis, Intrauterine growth retardation, Hypoxemia ORPHA:555874
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose ORPHA:3044
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Respiratory distress, Heparan sulfate excretion in urine,... OMIM:615273
Neuroocular Syndrome 1
Cataract, Microcornea, Short uvula, Downturned corners of mouth, Peters anomaly, Widely spaced te... OMIM:619539
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Adnp Syndrome
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Oral-pharyngeal dysphagia,... ORPHA:404448
Coccidioidomycosis
Respiratory distress, Abnormality of the bladder, Renal insufficiency, Abnormality of the kidney ORPHA:228123
Shprintzen-Goldberg Syndrome
High, narrow palate, Hypoplasia of the maxilla, Gastroesophageal reflux, Retrognathia, Umbilical ... ORPHA:2462
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferat... ORPHA:48435
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Bifid scrotum, Horseshoe kidney, Thin vermilion border, ... OMIM:609945
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Microphthalmia, Syndromic 3
Cryptorchidism, Hypogonadotropic hypogonadism, Esophageal atresia, Anterior pituitary hypoplasia,... OMIM:206900
Adams-Oliver Syndrome 1
Imperforate hymen, Cleft upper lip, Supernumerary nipple, Encephalocele, Pulmonary artery stenosi... OMIM:100300
Myasthenia Gravis
Acrocyanosis, Dysphagia, Glycosuria ORPHA:589
Pfeiffer Syndrome Type 1
Depressed nasal bridge, High palate, Short nose ORPHA:93258
Spondyloepiphyseal Dysplasia, Nishimura Type
Disproportionate short-limb short stature, Short nose OMIM:618618
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus... OMIM:201750
Pseudoaminopterin Syndrome
Horseshoe kidney, Cryptorchidism, Microdontia, Short philtrum, Orofacial cleft, High palate ORPHA:221120
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Exertional dyspnea, Orthopnea, Oligosacchariduria ORPHA:365
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Aspartylglucosaminuria
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Vascular skin abnormality, Umbili... ORPHA:93
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Cleft upper lip, Midline defect of the nose,... OMIM:603671
Agnathia-Otocephaly Complex
Respiratory distress OMIM:202650
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Kasabach-Merritt Phenomenon
Abdominal pain, Purpura, Petechiae, Abdominal distention ORPHA:2330
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Beta-Thalassemia Major
Depressed nasal bridge, Abnormality of the dentition, Diarrhea, Hyperplasia of the maxilla, Malar... ORPHA:231214
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea ORPHA:363705
Criss-Cross Heart
Cyanosis, Feeding difficulties ORPHA:1461
Kniest Dysplasia
Respiratory distress OMIM:156550
Omodysplasia 1
Axillary pterygium, Wide nasal bridge, Rhizomelia, Popliteal pterygium, Disproportionate short-li... OMIM:258315
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Cutis marmorata, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinar... OMIM:259900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Cryptorchidism OMIM:620365
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Exertional dyspnea, Hypoventilation ORPHA:98915
Distal Deletion 19P
Hypoplasia of the maxilla, Short philtrum, Cleft palate, Umbilical hernia ORPHA:96129
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea ORPHA:26793
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Cryptorchidism, Cleft palate OMIM:619123
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Dyspnea, Hypospadias, Epispadias ORPHA:2556
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hematochezia, Gastrointestinal hemorrhage, Tongue telangiectasia, Nail bed telangiectasia, Nasal ... OMIM:187300
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Gastroesophageal reflux, Long philtrum, Decreased testicular size, Narrow mouth, Cryptorchidism, ... ORPHA:459070
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Long philtrum, Small placenta, Narrow mouth, Cryptorchidism, Short umbilical... OMIM:208150
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Meconium ileus, Feeding difficulties OMIM:617239
Unilateral Polymicrogyria
Epistaxis, Nasogastric tube feeding, Cyanosis, Pseudobulbar paralysis ORPHA:268943
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress ORPHA:367
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Keratoconus, Epistaxis, Gastroesophageal reflux, Dental crowding, Bruising s... ORPHA:285
Congenital Tracheomalacia
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Cyanosis, Tracheoesophagea... ORPHA:95430
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Narrow nose, Malar flattening, Long nose, Cleft of chin, Convex nasal ... OMIM:101400
Roberts-Sc Phocomelia Syndrome
Wide nasal bridge, Cataract, Hypospadias, Long penis, Stillbirth, Cleft upper lip, Narrow naris, ... OMIM:268300
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal dental pulp morphology, Long philtrum, Renal hypoplasia/aplasia, Hydronephrosis, Abnorma... ORPHA:363700
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, High palate, Cryptorchidism OMIM:607721
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Bruising susceptibility, Short nose, Ecchymosis OMIM:277450
Noonan Syndrome
Dilatation of the renal pelvis, Thick lower lip vermilion, Cryptorchidism, Pulmonary artery steno... ORPHA:648
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Depressed nasal bridge, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdome... OMIM:618019
Joubert Syndrome 21
Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Renal cyst, Dysphagia, Pulmonary ... OMIM:615636
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Celiac di... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Celiac di... ORPHA:99228
Monosomy X
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Celiac di... ORPHA:99226
Turner Syndrome
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Celiac di... ORPHA:881
Primrose Syndrome
Narrow mouth, Torus palatinus, Tics, High palate, Restlessness, Motor stereotypy, Self-injurious ... OMIM:259050
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Yunis-Varon Syndrome
High, narrow palate, Clitoral hypertrophy, Gingival recession, Broad secondary alveolar ridge, Re... ORPHA:3472
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ... OMIM:600376
Infantile Krabbe Disease
Respiratory distress ORPHA:206436
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Oxygen desaturation on exertion, Cyanosis, Hematuria, Hypoxemia ORPHA:60025
Complete Atrioventricular Septal Defect
Cyanosis, Feeding difficulties ORPHA:1329
Leptospirosis
Respiratory distress, Acute kidney injury, Cellular urinary casts ORPHA:509
Cardiogenic Shock
Cyanosis, Oliguria, Hypoxemia ORPHA:97292
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Pulmonary artery dilatation, Cryptorchidism OMIM:613834
Tibial Hemimelia
Myelomeningocele, Cryptorchidism, Ambiguous genitalia, Hypospadias, Cleft palate ORPHA:93322
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Umbilical hernia, Labial hypertrophy, Gingival overgrowth, Cryptorchidism, Ma... ORPHA:96191
Opsismodysplasia
Severe short stature, Depressed nasal bridge, Short nose ORPHA:2746
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Noonan Syndrome 3
Hypoplastic nasal bridge, Bruising susceptibility, Anteverted nares, Short stature, High palate, ... OMIM:609942
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in adolescence, Death in infancy OMIM:615512
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, High palate OMIM:110100
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:609441
Eisenmenger Syndrome
Hypoxemia, Renal insufficiency, Cyanosis, Abdominal distention ORPHA:97214
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Hypoplasia of the maxilla, Occipital encephalocele, Renal agenesis,... OMIM:164210
Glycerol Kinase Deficiency
Cryptorchidism, Increased urinary glycerol, Downturned corners of mouth OMIM:307030
Japanese Encephalitis
Respiratory distress, Abnormal pattern of respiration, Irregular respiration ORPHA:79139
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in childhood, Death in infancy OMIM:620278
Carpenter Syndrome 2
High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Long philtrum, Umbilical ... OMIM:614976
Achondroplasia
Respiratory distress, Death in infancy OMIM:100800
Craniosynostosis And Dental Anomalies
Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth... OMIM:614188
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Low-molecular-weight proteinuria, Stage 5 chronic kidney disease, Renal insufficie... OMIM:309000
Farber Disease
Respiratory distress ORPHA:333
Noonan Syndrome 1
High, narrow palate, Chylothorax, Dental malocclusion, Hypogonadism, Cryptorchidism, High palate,... OMIM:163950
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Respiratory distress, Medullary nephrocalcinosis, Hy... ORPHA:51608
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Aicardi-Goutières Syndrome
Cutis marmorata, Prolonged neonatal jaundice, Micropenis, Convex nasal ridge, Short stature, Acro... ORPHA:51
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Geleophysic Dysplasia 2
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short stature, Short nose OMIM:614185
Geleophysic Dysplasia 1
Wide nasal bridge, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Sh... OMIM:231050
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Loeys-Dietz Syndrome
Bifid uvula, High palate, Orofacial cleft, Uterine rupture ORPHA:60030
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Umbilical hernia, Narrow mouth, Cryptorchidism, High palate, Glosso... OMIM:616145
Rodrigues Blindness
Nasal flaring OMIM:268320
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal ridge, Depressed nasal bridge, Disproportionate short-limb short stature, Long ph... OMIM:271665
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Ablepharon-Macrostomia Syndrome
Hypoplasia of the zygomatic bone, Anteriorly placed anus, Premature skin wrinkling, Aplastic zygo... OMIM:200110
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Cyanosis OMIM:616749
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Abnormal mandible morphology, Abnormality of the sphenoid si... ORPHA:249
Mgat2-Cdg
Respiratory distress ORPHA:79329
Double Outlet Left Ventricle
Orofacial cleft, Cyanosis ORPHA:3427
Waardenburg Syndrome, Type 4C
Hypogonadism, Aganglionic megacolon, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Spontaneous, recurrent epistaxis, C... OMIM:610655
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cyanosis, Cylindruri... OMIM:233450
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea ORPHA:100050
Poems Syndrome
Acrocyanosis, Plethora ORPHA:2905
Faciocardiomelic Syndrome
Depressed nasal bridge, Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Anteverte... OMIM:612731
Dermatomyositis
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Gastrointestinal stroma tumor, Facial e... ORPHA:221
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Alpha-Thalassemia
Jaundice, Malar prominence, Hyperplasia of the maxilla ORPHA:846
Cryptococcosis
Respiratory distress, Dyspnea ORPHA:1546
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology ORPHA:563612
Absence Of The Pulmonary Artery
Hypocapnia, Growth delay, Cyanosis ORPHA:980
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Acromesomelic Dysplasia 1
Disproportionate short-limb short stature, Short nose OMIM:602875
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Aortic Arch Interruption
Feeding difficulties in infancy, Cyanosis ORPHA:2299
Yunis-Varon Syndrome
Cataract, Hypospadias, Hypoplastic facial bones, Intrauterine growth retardation, Premature loss ... OMIM:216340
Truncus Arteriosus
Intrauterine growth retardation, Cyanosis ORPHA:3384
Oculopharyngodistal Myopathy 1
Respiratory distress OMIM:164310
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Scimitar Syndrome
Respiratory distress ORPHA:185
Norrie Disease
Thin vermilion border, Uterine rupture, Cryptorchidism ORPHA:649
Isolated Arrhinia
Respiratory distress ORPHA:1134
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... OMIM:182250
Nocardiosis
Respiratory distress, Dyspnea ORPHA:31204
Pmm2-Cdg
Respiratory distress, Proteinuria, Abnormal renal tubule morphology, Multiple renal cysts, Nephro... ORPHA:79318
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Functional abnormality of the bladder, Ur... ORPHA:64
Holt-Oram Syndrome
Micrognathia, Cleft soft palate, Long philtrum OMIM:142900
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Plague
Respiratory distress ORPHA:707
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Poor suck 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

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MGI Allele Allele Type Produced
Dlg1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dlg1tm39007(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dlg1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dlg1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dlg1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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