banner
Genes Phenotypes Help, News, Blog

Gene: Lrp2 MGI:95794

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
low density lipoprotein receptor-related protein 2
Synonyms:
b2b1625.2Clo,  D230004K18Rik,  Megalin,  Gp330

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 Lrp2 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 Lrp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... ORPHA:2143
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:222448

The table below shows human diseases predicted to be associated to Lrp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Facial Paresis, Hereditary Congenital, 2
Facial palsy, Hearing impairment OMIM:604185
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio... OMIM:231060
Omphalocele
Omphalocele ORPHA:660
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Broad nasal tip, Microg... OMIM:615524
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Holoprosencephaly 5
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Omphalocele, Autosomal
Omphalocele OMIM:164750
Omphalocele, X-Linked
Omphalocele OMIM:310980
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Fetal Minoxidil Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Cryptorchidism, Umbilical hernia ORPHA:1918
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Diaphragmatic ... OMIM:601186
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Prominent nasal bridge, Ventricular septal defect, Ectopic kidney, Short thum... ORPHA:401935
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... ORPHA:141091
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasal septum, Holo... OMIM:610828
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Underdeveloped nasal alae, Renal hypopla... ORPHA:2516
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly,... OMIM:601355
Verheij Syndrome
Branchial cyst, Anteverted nares, Ventricular septal defect, Optic nerve hypoplasia, Broad nasal ... OMIM:615583
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Holoprosencephaly 4
Median cleft lip, Depressed nasal bridge, Median cleft lip and palate, Absent nasal septal cartil... OMIM:142946
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Birk-Aharoni Syndrome
Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricul... OMIM:620071
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Prominent nose, Short... OMIM:617516
Skraban-Deardorff Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a... OMIM:617616
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Depressed nasal ridge... OMIM:613885
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Bardet-Biedl Syndrome 6
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia OMIM:605231
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c... OMIM:300555
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fall... ORPHA:251076
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Fetal Encasement Syndrome
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... OMIM:619452
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... OMIM:601927
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Wide nasal bridge, Perimembranous ventricular septal defect, ... OMIM:618804
Adams-Oliver Syndrome 6
Ventricular septal defect, Splenomegaly, Renal hypoplasia, Foot oligodactyly, Truncus arteriosus OMIM:616589
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Acalvaria
Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... ORPHA:2003
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... OMIM:604213
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Renal hypoplasia/aplasia, Micro... ORPHA:2570
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Cutaneous photosensitivity, Ag... OMIM:616570
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... ORPHA:79127
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Orbital encephalocele, Cleft palate, Microphthalmia, Agenesis of co... OMIM:164180
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus, Underdeveloped nasal alae OMIM:611867
Hartsfield Syndrome
Encephalocele, Depressed nasal bridge, Respiratory insufficiency, Lobar holoprosencephaly, Aplasi... ORPHA:2117
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis OMIM:616833
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Lissencephaly 4
Colpocephaly, Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:614019
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1926
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasi... ORPHA:1166
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Emanuel Syndrome
Broad jaw, Torticollis, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenita... OMIM:609029
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Abnormality of the kidney, Hydrocephalus, Patent ductus ar... ORPHA:93274
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Trisomy 1Q
Omphalocele, Microretrognathia, Wide nose, Anophthalmia, Ventricular septal defect, Depressed nas... ORPHA:261344
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Atrial se... OMIM:614261
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria OMIM:189800
Holoprosencephaly 2
Aplasia of the nasal bone, Proboscis, Alobar holoprosencephaly, Submucous cleft hard palate, Abse... OMIM:157170
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Urethral stenosis, Depressed nasal ridge, Hyd... ORPHA:1727
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Snijders Blok-Campeau Syndrome
Inguinal hernia, Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Tau... OMIM:618205
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ... OMIM:617478
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Pachygyria, Hydroce... OMIM:613153
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Nephropathy, Nephrocalci... OMIM:208085
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Holoprosencephaly 11
Cleft lip, Agenesis of corpus callosum, Holoprosencephaly, Cleft palate OMIM:614226
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Double outlet right ventri... ORPHA:3426
Meckel Syndrome, Type 7
Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis,... OMIM:267010
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ... ORPHA:353
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... OMIM:212093
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... OMIM:608978
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Bardet-Biedl Syndrome 19
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Partial atrioventricular ca... OMIM:615996
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Proteinuria, Nephrogenic diabetes insipidus, Nephropathy... OMIM:613404
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Pat... ORPHA:3378
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... ORPHA:60033
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Microce... ORPHA:1908
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Scimitar Syndrome
Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ve... ORPHA:185
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Anteverted nares, Short toe, Anterior open-bite malocclusion, Perimembranous ve... OMIM:617877
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... ORPHA:206546
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventri... OMIM:620070
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... ORPHA:171703
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia, Camptodactyly of finger DECIPHER:70
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Alg13-Cdg
Abnormal lateral ventricle morphology, Anteverted nares, Long philtrum ORPHA:324422
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Atypical Hemolytic Uremic Syndrome
Hematuria, Abnormal lactate dehydrogenase level, Proteinuria, Acute kidney injury ORPHA:2134
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Retrognathia,... ORPHA:352490
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricu... OMIM:158170
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormone stimulati... OMIM:220210
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ... OMIM:611722
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Thin upper lip vermilion, Abnormal lateral ventricle morphology, Wide nose, D... ORPHA:488635
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... OMIM:147250
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Recombinant Chromosome 8 Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptorchidism... OMIM:179613
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre... OMIM:618913
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Peripheral pulmonary arte... OMIM:613177
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Underdeveloped nasal alae, Crypto... OMIM:192430
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Microcephaly, Dyspnea, Depressed nasal ridg... ORPHA:1832
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Short ... ORPHA:261120
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... OMIM:619302
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Asplenia, Aortic valve s... OMIM:615415
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... OMIM:600001
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Micrognathia, Pulmonary hypoplasia, Holoprosencephaly, Tracheoma... OMIM:202650
Myofibrillar Myopathy 10
Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Truncus arter... ORPHA:96170
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphys... ORPHA:1164
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Hydrocephalus, Patent ductus arteriosus, Holopros... ORPHA:77298
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Inguinal hernia, Micrognathia, Lens coloboma, Renal hypoplasia, Small then... OMIM:618914
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis ORPHA:85274
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Aplasia/Hypopla... ORPHA:990
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta, Short 5th metaca... ORPHA:228190
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Wide nose, Left ventricular hypertrophy, Left atrial enlargement, Cardio... OMIM:300280
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge OMIM:270460
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Renal agenesis, Cryptorchidi... ORPHA:171839
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, C... OMIM:612530
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Cyanosis, Anteverted nares, Micrognathia, Pneumothora... OMIM:619879
Houge-Janssens Syndrome 3
Inguinal hernia, Broad nasal tip, Muscular ventricular septal defect, Atrial septal defect, Umbil... OMIM:618354
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Emphysema, Jaundice ORPHA:60
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Uraciluria, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Distal Deletion 13Q
Encephalocele, Renal hypoplasia/aplasia, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the cor... ORPHA:1590
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the ... ORPHA:2872
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... ORPHA:521308
Hydrolethalus
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle... ORPHA:2189
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Micrognathia... ORPHA:391641
Microcephaly 17, Primary, Autosomal Recessive
Renal agenesis, Bulbous nose, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the bra... OMIM:617090
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect OMIM:620062
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... OMIM:265380
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s... ORPHA:500159
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic r... OMIM:613730
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... ORPHA:411986
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Hypos... OMIM:301040
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Microtia-Anotia
Holoprosencephaly OMIM:600674
Macrocephaly, Acquired, With Impaired Intellectual Development
Narrow nasal bridge, Probst bundles, Anteverted nares, Agenesis of corpus callosum, Thin corpus c... OMIM:618286
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Umbili... OMIM:616028
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia... OMIM:617022
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Increased circulating lactate dehydrogenase concentration, Myoglobinuria, Acute kidney injury, Hy... OMIM:268200
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Increased urine succinate level, Hepatomegaly OMIM:619048
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Microphthalmia, Patent du... OMIM:115470
Microgastria-Limb Reduction Defect Syndrome
Renal dysplasia, Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Multicystic kidney ... ORPHA:2538
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum... ORPHA:85179
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Transposition of th... ORPHA:1913
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diabetes mellitus, Ragged-red muscle fibers, Stroke-like episode, Myopathy, Left ventricular hype... OMIM:540000
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Bulbous nose, Renal hypopla... OMIM:618494
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Persistence of primary teeth, Patent ductus arteriosus,... OMIM:619769
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Angioedema, Hematuria, Restrictive ven... ORPHA:36412
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of... OMIM:615771
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Atrioventricular canal de... ORPHA:508498
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Congenital diaphragmati... ORPHA:2059
Triploidy
Hypoplasia of penis, Hypospadias, Micrognathia, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of... ORPHA:3376
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Renal dysplasia, Flexion contracture, Abnormal renal corticomedulla... OMIM:616733
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Camptodactyly o... ORPHA:2008
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Anteverted nares, Wide nasal bridge, Abnormality of the urinary system, Agen... ORPHA:1621
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Colpocephaly, Macular hypoplasia, Ventriculomegaly ORPHA:2185
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... ORPHA:2143
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... ORPHA:86812
Cantu Syndrome
Bicuspid aortic valve, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Pericardial effusi... OMIM:239850
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Anteverted nares, Absent septum pellucidum, Prominent nose, Microcephaly, Bulbous nose, Simplifie... OMIM:618492
Sotos Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad... OMIM:117550
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Lissencephaly, X-Linked, 1
Death in infancy, Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Chromosome 3Q13.31 Deletion Syndrome
Micropenis, Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly OMIM:615433
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Renal agenesis, Anteverted nares, Choanal atresia, Midn... ORPHA:280200
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Agenesis of corpus callosum, Death in infancy ORPHA:85334
Beta-Mercaptolactate Cysteine Disulfiduria
Anteverted nares, Micromelia, Abnormality of the ureter, Atrial septal defect, Umbilical hernia, ... ORPHA:1035
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Micrognathia OMIM:619501
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Cryptorchidism, Bulbous... ORPHA:369891
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... OMIM:611603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Respiratory insufficienc... OMIM:253800
Distal Monosomy 7Q36
Hypoplasia of penis, Microcephaly, Micrognathia, Bulbous nose, Holoprosencephaly ORPHA:1636
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Hypoplasia of the pons, Micrognathia, Partial agenesis of the corpus callosum, Mi... OMIM:616171
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Ring Chromosome 8 Syndrome
Short nose, Abnormality of the ureter, Anteverted nares, Hydronephrosis ORPHA:1450
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:303350
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Prominent superficial veins, Atypical scarring of skin, Umbilical hernia, Nephro... OMIM:617174
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Dextrotransposition of the gr... OMIM:618619
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Median cleft lip, Anteverted nares, Proboscis, Alobar holop... OMIM:619895
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal nostril morphology, Microphthalmia, Ventricular septal defect ORPHA:3469
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Hypoplasia of th... OMIM:136760
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Muscular ventricular septa... OMIM:619227
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Respiratory insufficiency, Respiratory failure, Hypoplasia of the c... OMIM:616081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus... OMIM:613156
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
49,Xxxxy Syndrome
Mandibular prognathia, Recurrent respiratory infections, Hypoplasia of penis, Delayed eruption of... ORPHA:96264
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Total anosmia, Bilateral cryptorc... ORPHA:2326
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, S... OMIM:300887
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Micrognathia OMIM:615731
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Death in chil... OMIM:618766
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Abnormally large globe, Knee flexion contract... OMIM:603387
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Dyspnea, Hydrocephalus,... ORPHA:538
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodac... OMIM:614846
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Recurrent respiratory infections, Periventricular leukomalacia, Agenesis of corpus callosum, Resp... OMIM:618324
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... ORPHA:1200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Abnormality of the urinary system, Short no... ORPHA:1695
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia, Microceph... OMIM:600118
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Renal hypoplasia/a... ORPHA:2166
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cl... ORPHA:1104
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiomegaly, Pericardial effus... OMIM:115197
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Pelger-Huet Anomaly
Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, ... OMIM:169400
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Perimembranous ventricu... OMIM:608104
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Microcephaly, Wide nasal bridge, Neuronal loss in the cereb... ORPHA:168486
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Hydrocephalus, Wide nasal bridge, Hypoplasia of the corpus callos... OMIM:618577
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As... ORPHA:2902
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Depressed nasal ridge, Absent nares, Holoprosencephaly, Aplasi... ORPHA:2162
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Microphallus, Vesicoureteral reflux, P... OMIM:618454
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Prune belly, Hydronephrosis, Pulmonic stenosis, Hydroureter OMIM:264140
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Wide nose, Hepatomegaly, Neurogenic bladder, Micrognathia, Secundum atri... OMIM:608779
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Depressed nasal bridge, Nephroblastoma, Hernia, Microphthalmia, Leukemia OMIM:602501
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Micrognathia, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge, Umbilical h... ORPHA:1516
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis ORPHA:3033
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrog... OMIM:607598
Imerslund-Grasbeck Syndrome 1
Somatic sensory dysfunction, Microscopic hematuria, Proteinuria, Paresthesia OMIM:261100
Monosomy 18P
Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Short philtrum, Hypo... ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Hypos... OMIM:617751
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia ORPHA:2668
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Spina bifida occulta, Depressed na... OMIM:201000
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Ve... ORPHA:567
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Pyknoachondrogenesis
Stillbirth OMIM:265880
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Umbilical hernia, Nephro... OMIM:618272
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... OMIM:610205
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Rhizomelia, Micrognathia, Wide nasal bridge, Microphthalmia ORPHA:93267
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus ... OMIM:207950
Distal Triplication 15Q
Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Flexion contracture, Hypoplast... ORPHA:314588
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dow... OMIM:613443
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Noonan Syndrome 8
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:615355
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Flexion contracture, Patent duct... OMIM:613870
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Delayed eruption of teeth, Hypospadias, Choanal atresia, Micrognathia, Short thumb... OMIM:619148
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:222448
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor... OMIM:205400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly OMIM:615041
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Patent... OMIM:618652
Mungan Syndrome
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis OMIM:611376
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... ORPHA:1354
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Multiple Mitochondrial Dysfunctions Syndrome 3
Microcephaly, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Hypoplasia of the... OMIM:615330
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Inguinal hernia, Short fourth metatarsal, Ventricular sept... OMIM:134780
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... ORPHA:1110
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Gillespie Syndrome
Hypoplasia of the iris, Truncus arteriosus, Aniridia OMIM:206700
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Microcephaly, Flared nostrils, Wide nasal bridge, Cerebral atrophy, Apneic epis... OMIM:312170
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Elevated circulating alanine aminotransferase concentration, Proteinuria, Elevated circ... OMIM:620010
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick cerebral cortex, Anteverted nares, Broad nasal tip, Carious teeth, Abnormal subcutaneous fa... ORPHA:357074
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... ORPHA:976
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Microcephaly, Respiratory insufficiency, Respiratory failure, Cereb... ORPHA:370968
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hypoplasia of th... OMIM:613001
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Hydrocephalus, Myelomeningocele, Respi... ORPHA:1914
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Umbil... OMIM:615834
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Periventricular leukomalacia, Microcephaly, Partial agenesis of th... ORPHA:79243
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Microcep... ORPHA:899
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... ORPHA:453533
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Microphthalmia With Limb Anomalies
Anophthalmia, Depressed nasal bridge, Unilateral cryptorchidism, Flared nostrils, Hand oligodacty... OMIM:206920
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... OMIM:613680
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration OMIM:614458
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Isotretinoin-Like Syndrome
Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricl... ORPHA:2306
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Short palm, Atrial septal defect, Vesicoureteral reflux, Spina b... OMIM:235510
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Bulbous nose, ... ORPHA:329224
Joubert Syndrome 15
Micropenis, Ataxia, Exencephaly, Nephronophthisis OMIM:614464
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
3C Syndrome
Inguinal hernia, Hypoplasia of penis, Depressed nasal bridge, Ventricular septal defect, Abnormal... ORPHA:7
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Renal cell carcinoma, Pulmonary sequestration ORPHA:122
Pseudotrisomy 13 Syndrome
Encephalocele, Renal agenesis, Microcephaly, Hydrocephalus, Renal hypoplasia, Holoprosencephaly, ... OMIM:264480
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Coffin-Siris Syndrome 3
Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Central diaphragmatic herni... OMIM:614608
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Cerebellar vermis hypoplasia, Micrognathia, Respiratory insufficiency due to muscl... OMIM:618291
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Lateral ventricle dilatation, Anteverted nares OMIM:300982
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria... OMIM:214800
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Delayed puberty, Malar flattening, Short nose ORPHA:217340
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... OMIM:188400
Netherton Syndrome
Recurrent respiratory infections, Ectopic kidney, Asthma, Urticaria, Aminoaciduria, Emphysema, Hy... ORPHA:634
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria, Decreased lecithin cholesterol acyl transferase level OMIM:245900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Anteverted nares, Optic nerve hypoplasia, Vesicoureteral reflux, Short... OMIM:615879
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Microphallus, Abnormal peri... ORPHA:468631
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypertrophy of the urinary bladder, Atrial septal defect, Patent foramen ovale, Microretrognathia... ORPHA:280633
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Anteverted nares, Depressed ... ORPHA:261236
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Depressed nasal bridge, Micrognathia, Microcephaly, Hy... OMIM:241800
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... ORPHA:250999
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Respiratory insufficiency due to muscle weakness, Microcephaly, Hydroceph... OMIM:615249
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Abnormal muscle fiber morphology, Cryptorchidism, Wide nasal bridge... OMIM:175700
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplas... OMIM:605627
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contra... ORPHA:3208
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Renal cyst, Horseshoe kidney, Camptodactyly, ... OMIM:614815
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Inguinal hernia, Recurrent urinary tract infections, Ventricular septal defect... ORPHA:261330
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Cryptorchidism, Renal atrophy, Depressed... OMIM:618578
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie... ORPHA:1770
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... OMIM:620200
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... ORPHA:90117
Glycine Encephalopathy 1
Death in infancy, Agenesis of corpus callosum, Hyperglycinuria OMIM:605899
Pallister-Hall Syndrome
Renal dysplasia, Natal tooth, Hydroureter, Anteverted nares, Depressed nasal bridge, Distal ureth... OMIM:146510
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, High, nar... OMIM:619941
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia OMIM:275100
Hadziselimovic Syndrome
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Ren... OMIM:612946
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Agyria, Optic nerve hy... ORPHA:171680
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Multicystic kidney dysplasia, Ab... ORPHA:2092
Burn-Mckeown Syndrome
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Choana... OMIM:608572
Cooper-Jabs Syndrome
Ventricular septal defect, Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Cofs Syndrome
Death in infancy, Cerebral calcification, Micrognathia, Abnormal nasal morphology, Microcephaly, ... ORPHA:1466
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Umbilical ... OMIM:612938
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Retrogna... OMIM:300219
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Diffuse cerebral atrophy, Prominent nasal bridge, Micrognathia, Cariou... OMIM:214150
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Thrombocytopenia, Patent ductus arteriosus... ORPHA:290
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Micromelia, Bilateral renal hypoplasia, Vesicoureter... ORPHA:508488
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd toe, Short thumb, Muscular ventricular septal defect, Hypothyroidism, Wide nasal bridge... OMIM:618569
Short-Rib Thoracic Dysplasia 12
Natal tooth, Atelectasis, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Renal hypoplasia,... OMIM:269860
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Atelectasis, Anosmia, Bronchiectasis, Im... OMIM:244400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m... ORPHA:1655
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... ORPHA:2970
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Respiratory insuf... ORPHA:375
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Tetraploidy
Convex nasal ridge, Renal hypoplasia/aplasia, Micrognathia, Hydronephrosis, Aplasia/Hypoplasia af... ORPHA:3305
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Short nose, Delayed eruption of permanent teeth, Anteverted nares OMIM:618506
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Thick nasal alae, Episodic tachypnea, Agenesis of cerebellar vermis... ORPHA:163961
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Renal insufficiency, Anteverted nares, Splenomegaly, Patent duct... OMIM:251290
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Abnormal localizati... ORPHA:83473
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardio... ORPHA:66634
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Stroke, Renal sodium ... ORPHA:320
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Choanal stenosis, Vesicoureteral reflux, ... OMIM:607323
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife... OMIM:611134
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Lacticaciduria, Respiratory insufficiency, Methy... OMIM:245400
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Wide nose, Apnea, Micrognathia, Microcephaly, Abnormal lung lobatio... ORPHA:1052
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Dyspnea, Single naris, Renal cyst, R... OMIM:615636
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Ventricular septal defect, Depressed nasal bridge, A... ORPHA:2256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Type II lissencephaly OMIM:614830
Teebi Hypertelorism Syndrome 1
Omphalocele, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Mi... OMIM:145420
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Micrognathia, Microcephaly, Recurrent pneumonia, Hypoplasia of the corpus callo... ORPHA:1495
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Dental malocclusion, Wide nasal bridge, Abnormal cardiac septum morphology... ORPHA:3079
Phaver Syndrome
Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger, Short thumb, Myelomen... ORPHA:2876
Heart And Brain Malformation Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wid... OMIM:616920
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Perching Syndrome
Respiratory distress, Cyanosis, Depressed nasal bridge OMIM:617055
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Macrodontia, Anteverted nares, Downturned corners of mouth, Tooth agenesis, Colpocephaly, Short p... OMIM:618731
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal bridge, Microcephaly, B... OMIM:614105
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... OMIM:178600
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc... OMIM:601357
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas... ORPHA:2470
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Atrial septal defect, Malar fla... ORPHA:1388
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Depressed nasal bridge, Campto... ORPHA:137834
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, Stage 5 chronic kidney disea... OMIM:613390
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Micrognathia, Microcephaly, Organic... ORPHA:99742
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Short metacarpal, Ventricular septal defect, Micrognathia, Underdeveloped nasal ... ORPHA:166035
Trisomy 17P
Skeletal muscle atrophy, Wide nose, Hypoplasia of penis, Urethral valve, Prominent nose, Microgna... ORPHA:261290
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Glycosuria, Elev... OMIM:616026
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypo... OMIM:304100
Chromosome 6Q11-Q14 Deletion Syndrome
Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia, Bilateral cryptorchidism,... OMIM:613544
Ring Chromosome 21 Syndrome
Cutaneous photosensitivity, Holoprosencephaly, Microcephaly ORPHA:1445
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... ORPHA:284169
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Agenesis of corpus callosum, H... OMIM:617127
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:251274
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Waardenburg Syndrome Type 3
Narrow nasal bridge, Microcephaly, Atelectasis, Tracheomalacia, Acrocyanosis ORPHA:896
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Alg12-Cdg
Wide nose, Decreased serum insulin-like growth factor 1, Hypospadias, Prominent nasal bridge, Mic... ORPHA:79324
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia... OMIM:616897
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Cednik Syndrome
Proteinuria, Prominent nasal bridge, Microcephaly, Depressed nasal ridge, Nephrotic syndrome, Pac... ORPHA:66631
Robinow Syndrome
Micrognathia, Atrial septal defect, Webbed penis, Micropenis, Multicystic kidney dysplasia, Depre... ORPHA:97360
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Choanal stenosis, Atrial septal defect, Hypothyroidism, Patent fora... OMIM:620186
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... ORPHA:85451
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... OMIM:313850
Endocrine-Cerebroosteodysplasia
Natal tooth, Hypospadias, Absent septum pellucidum, Micrognathia, Focal polymicrogyria, Hydroceph... OMIM:612651
Pituitary Gigantism
Mandibular prognathia, Elevated circulating growth hormone concentration, Increased circulating i... ORPHA:99725
Imagawa-Matsumoto Syndrome
Mandibular prognathia, Wide nasal ridge, Cryptorchidism, Camptodactyly, Umbilical hernia OMIM:618786
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Mic... OMIM:618504
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia ORPHA:2015
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Hyperechogenic kidneys, ... OMIM:619111
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Hernia, Vesicouret... ORPHA:261494
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Respiratory insufficiency due to muscle weakness, Microcephaly, Cerebral atrophy, R... OMIM:611890
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Inc... ORPHA:84064
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Anteverted nares, Nephroblast... ORPHA:2849
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Lambotte Syndrome
Microcephaly, Intrauterine growth retardation, Retrognathia, Convex nasal ridge, Semilobar holopr... OMIM:245552
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p... ORPHA:66625
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Apnea, Anteverted nares, Promin... ORPHA:220497
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Perimembrano... OMIM:618651
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... OMIM:615474
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Hypoxemia, Hypoplasia of the zygomatic bone, Holoprosencephaly... ORPHA:556955
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Splenomegaly, Nephropathy, Flexion contra... ORPHA:87876
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Distal sensory i... OMIM:614455
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Depressed nasal bridge, Anteverted nares, Parachute mitral valve, Prominent nose, Ve... OMIM:618316
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia ORPHA:254534
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Bi... OMIM:132900
Galloway-Mowat Syndrome 5
Mandibular prognathia, Periventricular leukomalacia, Proteinuria, Stage 5 chronic kidney disease,... OMIM:617731
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Ventricular septal defect ORPHA:391646
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Polysyndactyly With Cardiac Malformation
Ventricular septal defect, Anteverted nares, Renal cyst, Atrial septal defect, Hepatic cysts OMIM:263630
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... OMIM:608751
Microphthalmia, Syndromic 2
Anophthalmia, Flexion contracture, Atrial septal defect, Contracture of the proximal interphalang... OMIM:300166
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Micrognath... OMIM:300855
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Cryptorchidism, Short toe, Patent ductus arteriosus, Aortic root aneurysm,... ORPHA:404443
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Respiratory insufficiency, Short ... ORPHA:1895
Jacobsen Syndrome
Recurrent respiratory infections, Hypospadias, Anteverted nares, Depressed nasal bridge, Microgna... OMIM:147791
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Respiratory insufficiency, Respiratory fail... OMIM:276950
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Anteverted nares, Depress... OMIM:610015
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Suleiman-El-Hattab Syndrome
Microretrognathia, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Wide nasal bridge,... OMIM:618950
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Cyanos... ORPHA:2257
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Ground-glass opacification, Dysp... ORPHA:90060
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge OMIM:614870
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Anteverted nares, Micrognathia, Membranous subvalvular aortic stenosis, Type II ... ORPHA:3191
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Abnor... OMIM:610829
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Wide nasal bridge ORPHA:380
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic her... OMIM:208050
Microcephaly 16, Primary, Autosomal Recessive
Primary microcephaly, Agenesis of corpus callosum, Simplified gyral pattern, Micrognathia OMIM:616681
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Lissencephaly 8
Occipital encephalocele, Type II lissencephaly, Microcephaly, Hypoplasia of the brainstem, Cerebe... OMIM:617255
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Wide nasal bridge, Cerebral atrophy ORPHA:166024
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, Ventricular septal defect, Short middle phal... OMIM:614326
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Short palm, Atrial septal def... OMIM:312870
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Anteverted nares, Rhizomelia, Hypospadias, Micrognathia, Hemolytic-uremic sy... OMIM:611209
Lateral Meningocele Syndrome
Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Neuroge... OMIM:130720
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, W... OMIM:601499
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Microphthalmia, Type II lissencephaly ORPHA:324416
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalu... ORPHA:157
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Proteinuria, Dysplastic corp... ORPHA:488627
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Camptodactyly, Umbilical hernia OMIM:618011
Mosaic Trisomy 1
Omphalocele, Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Depressed nas... ORPHA:1692
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... OMIM:619301
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Submuc... OMIM:301043
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... OMIM:615993
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Nonarteriosclerotic cerebral calcification OMIM:210050
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct... ORPHA:980
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly,... ORPHA:370959
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal defect, Depressed nasal ... OMIM:618142
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Achondrogenesis
Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Umbilical hernia, Short nose ORPHA:932
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Micrognathia OMIM:608227
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Achondrogenesis Type 1A
Femoral hernia, Anteverted nares, Micromelia, Micrognathia, Short foot, Short palm, Umbilical her... ORPHA:93299
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar verm... ORPHA:77299
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... OMIM:608758
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... ORPHA:229
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly OMIM:616540
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Absence of the pulmonary valve, V... OMIM:601808
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ca... ORPHA:99776
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Microhydranencephaly
Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydrane... OMIM:605013
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Zaki Syndrome
Wide nose, Anteverted nares, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Paten... OMIM:619648
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Cerebral atrophy, Respiratory failure, Aspiration pneumonia, Intra... OMIM:619057
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Developmental And Epileptic Encephalopathy 88
Depressed nasal bridge, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Inferior... OMIM:618959
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Adams-Oliver Syndrome 2
Depressed nasal bridge, Cutis marmorata, Micrognathia, Microcephaly, Hydrocephalus, Bulbous nose,... OMIM:614219
Cln3 Disease
Left ventricular hypertrophy, Vacuolated lymphocytes, Urinary bladder sphincter dysfunction, Incr... ORPHA:228346
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Achondrogenesis Type 1B
Femoral hernia, Anteverted nares, Micromelia, Micrognathia, Short foot, Umbilical hernia, Short nose ORPHA:93298
Vacterl With Hydrocephalus
Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Microg... ORPHA:3412
Glutathionuria
Asthma, Agenesis of corpus callosum, Urinary incontinence, Glutathionuria OMIM:231950
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Vesicoureteral reflux, Atrial septal defect, Paten... ORPHA:2745
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, 11 pairs of ribs, Inguinal hernia, Bicuspid aortic valve, Depressed nasal brid... OMIM:245600
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
8P23.1 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidis... ORPHA:251071
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Respiratory ... OMIM:225753
Cardiospondylocarpofacial Syndrome
Anteverted nares, Ventricular septal defect, Congenital diaphragmatic hernia, Bulbous nose, Muscu... OMIM:157800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Depressed nasal bridge, Micrognathia, Simplified gyral pattern, Lat... ORPHA:284417
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Li-Campeau Syndrome
Ventricular septal defect, Patent foramen ovale, Cryptorchidism, Patent ductus arteriosus, Patell... OMIM:619189
2Q37 Microdeletion Syndrome
Short metacarpal, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congeni... ORPHA:1001
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Atrial septal defect,... OMIM:612474
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Unilater... OMIM:619955
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, High palate, Microphthalmia, Inferior cerebellar vermis hypoplasia, Agenesis of cor... ORPHA:139471
Rubinstein-Taybi Syndrome 1
Premature thelarche, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorch... OMIM:180849
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Inguinal hernia, Anteverted nares, Micrognathia, Elbow flexion... OMIM:616266
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Microcephaly, Pachygyria, Vesicoureteral reflux, Hypoplasia of the fro... ORPHA:2512
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal alae, Left superior ve... OMIM:611961
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Hydrocephalus, Patent ductus arteriosus, Horseshoe kidney, Hypoplasia of the corpus ... OMIM:218350
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Depressed nasal bridge, Anteverted nares, Ventric... ORPHA:435638
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Wide nose, Cerebral calcification, 4-layered lissencepha... ORPHA:89844
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Hypospadias, Bulbous nose, Patent ductus arteriosus, Atrial septal defect OMIM:618330
Bresek Syndrome
Hypoplasia of the bladder, Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Hydrocephalu... ORPHA:85284
Fabry Disease
Renal insufficiency, Transient ischemic attack, Proteinuria, Ventricular septal hypertrophy, Urin... OMIM:301500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p... OMIM:615716
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Cryptorchi... ORPHA:457193
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Broad nasal tip, Bifid nasal tip, Secundum atrial septal defect, Absence of renal corticomedullar... OMIM:619758
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Depressed nasal bridge, Anteverted nares, Underdeve... ORPHA:228390
Baraitser-Winter Syndrome 1
Anteverted nares, Microcephaly, Pachygyria, Patent ductus arteriosus, Short nose, Wide nasal brid... OMIM:243310
Trisomy 18
Microretrognathia, Choanal atresia, Abnormality of the upper urinary tract, Spina bifida, Microce... ORPHA:3380
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Renal hypoplasia/... ORPHA:2863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Respiratory fai... OMIM:616538
Developmental And Epileptic Encephalopathy 71
Simplified gyral pattern, Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Rhiny
Short nose, Anteverted nares, Inguinal hernia OMIM:180360
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Wide nasal bridge, Buphthalmos, Nephrocalcinosis, Joint contracture, Li... OMIM:618005
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper ... OMIM:252900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Mitral valve ... OMIM:104350
Congenital Toxoplasmosis
Cerebral calcification, Microcephaly, Hydrocephalus, Jaundice, Microphthalmia, Ventriculomegaly, ... ORPHA:858
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, Short... ORPHA:250989
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... OMIM:612561
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia,... OMIM:235255
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Hypertrophic card... OMIM:615418
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... OMIM:618736
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Hypospadias, Abnormality of the kidney, Microcephaly, Aplasia/Hypoplasia of the... ORPHA:1194
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Micrognathia, Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Hypoplasia ... OMIM:214110
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cerebellar vermis hypo... ORPHA:228308
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Branchial anomaly, Malar flattening ORPHA:1296
Acrocephalopolydactyly
Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly, Limb undergrowth, Short nose ORPHA:221054
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Hypoplasia of the maxilla, Diffuse white matter abnormalities, Wide ... OMIM:218000
Hogue-Janssen Syndrome 2
Anteverted nares, Unilateral renal agenesis, Microcephaly, Hydrocephalus, Hypoplasia of the corpu... OMIM:616362
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Hypospadias, Abnormality of the thyroid gland, Coarct... ORPHA:1923
Meier-Gorlin Syndrome 6
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, Un... OMIM:616835
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Intestinal malrotation, Velopharyng... OMIM:614701
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ca... OMIM:300967
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Microcephaly OMIM:302000
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise... ORPHA:99845
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Micro... OMIM:243605
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... ORPHA:488618
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Choanal atresia, Prob... ORPHA:141099
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Microcephaly, Wide nasal bridge, Cerebral atrophy, Respiratory insufficiency, Respiratory ... OMIM:610127
Foxg1 Syndrome
Optic disc hypoplasia, Abnormal respiratory system physiology, Hypoplasia of the corpus callosum,... ORPHA:561854
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Broad nasal tip, Recurrent upper respirat... ORPHA:284180
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cerebellar vermis hypoplasia, Apnea, Secondary microcephaly, Cyanotic episode OMIM:610992
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia ORPHA:225
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Congenital di... ORPHA:2311
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Cerebellar vermis hypoplasia, Prog... ORPHA:2962
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Microcephaly 10, Primary, Autosomal Recessive
Prominent nasal bridge, Choanal atresia, Reduced cerebral white matter volume, Micrognathia, Simp... OMIM:615095
Gaba-Transaminase Deficiency
Retrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood OMIM:613163
Galloway-Mowat Syndrome 8
Proteinuria, Microcephaly, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal s... OMIM:618349
Image Syndrome
Hypogonadism, Cryptorchidism, Hypospadias, Adrenal hypoplasia ORPHA:85173
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Cyanosis, Anteverted... ORPHA:3309
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... OMIM:225790
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... OMIM:619167
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotransferase concen... OMIM:227810
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Decreased glomerular filt... ORPHA:730
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Macrodontia, Anteverted nares, Hypoplasia... OMIM:618606
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia OMIM:615982
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... OMIM:208530
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Prominent nasal bridge, Meningocele, Renal cyst, Intrac... OMIM:614424
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebella... OMIM:613155
Temtamy Syndrome
Micrognathia, Short toe, Microphthalmia, Convex nasal ridge, Aortic aneurysm ORPHA:1777
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Cardiac-Valvular Ehlers-Danlos Syndrome
Inguinal hernia, Abnormal heart valve morphology, Bulbous nose, Mitral valve prolapse, Atrophic s... ORPHA:230851
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Prominent superficial veins, Carotid artery stenosis, Micrognath... OMIM:618000
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Prominent nose, Micrognath... OMIM:301022
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Bulbous nose, Microphth... ORPHA:2328
Peho-Like Syndrome
Retrognathia, Progressive microcephaly, Lissencephaly, Hypoplasia of the corpus callosum, Short n... OMIM:617507
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Lowry-Maclean Syndrome
Inguinal hernia, Hypospadias, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Hyp... ORPHA:2409
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Cherry red spot of the macula, Hepatosp... ORPHA:93399
1Q44 Microdeletion Syndrome
Optic disc hypoplasia, Micrognathia, Microcephaly, Hydrocephalus, Horseshoe kidney, Vesicouretera... ORPHA:238769
Desmosterolosis
Renal agenesis, Depressed nasal bridge, Absent septum pellucidum, Renal hypoplasia/aplasia, Micro... ORPHA:35107
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho... ORPHA:1596
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias ORPHA:1355
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Depressed na... ORPHA:1458
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Increased axia... ORPHA:513456
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee ... ORPHA:85285
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Inguinal hernia, Nephropathy, Nephrolithiasis, Hematuria, Abnormal circulating calcium-phosphate ... ORPHA:2196
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Vaginal atresia, Fused labia minora OMIM:207410
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Choanal atresia, Optic nerve hypoplasia, Promi... ORPHA:93932
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm ORPHA:79094
Hepatic Veno-Occlusive Disease
Renal insufficiency, Jaundice, Respiratory failure ORPHA:890
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormal cardiac septum morphology ORPHA:2370
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Pachygyri... OMIM:614643
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Acute kidney i... ORPHA:54057
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Short thumb, Bulbous nose, Cryptorchidism, Pa... OMIM:244300
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Holoprosencephaly, Microcephaly ORPHA:2165
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Anophthalmia, Scarring, Delayed eruption of primary teeth, C... ORPHA:90322
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Hernia... ORPHA:1745
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Spondylometaphyseal Dysplasia, X-Linked
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Respiratory insufficiency, Respirato... OMIM:313420
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Hypoplasia of penis, Renal insufficiency, Micrognathia, Hypothyroidism, Cryptorchid... ORPHA:85321
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Nephrolithiasis, Wide nasal bridge, Dermatan sulfate excretion in ur... OMIM:619698
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro... OMIM:301006
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Hy... OMIM:301056
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Diabetes mellitus, Abnormality of the kidney, Broad nasal tip, Recurrent u... ORPHA:391372
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarct... OMIM:620210
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospadias, Micrognathia, Crypto... OMIM:300712
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
8Q12 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Vesicoureteral reflux, Short foot, Atrial septal de... ORPHA:228399
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... OMIM:619356
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Hypoplastic scapulae, Depressed nasal bridge, Ad... OMIM:308050
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia OMIM:613670
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Renal dysplasia, Hypospadias, Renal hypoplasia/aplasia, Microcephaly, Agenesis of corpus callosum... ORPHA:2508
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Wide nasal bridge, Short hallux, Broad nasal tip OMIM:620393
Baraitser-Winter Syndrome 2
Retrognathia, Lissencephaly, Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corp... OMIM:614583
Hurler Syndrome
Flexion contracture, Hernia, Endocardial fibroelastosis, Hepatomegaly, Depressed nasal bridge, An... OMIM:607014
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Depressed nasal bridge, Antever... OMIM:606812
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia, Hypothyroidism ORPHA:2349
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Depressed nasal bridge, Malar flattening, Patent ductus arteriosus, Sh... OMIM:612582
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Hypospadias ORPHA:141333
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Ventricular... OMIM:608149
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Anteverted nares, Hypospadias, Atrial septal defect, ... OMIM:616449
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure OMIM:619386
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Prominent na... ORPHA:85201
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral white matter atrophy, Myelopathy, Cerebral edema, Leukoencephalopathy, Bradypnea, Respir... OMIM:617186
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Renal neoplasm, Anteverted nares, Repeated pneumothoraces, Depressed nasal ... ORPHA:536467
C Syndrome
Omphalocele, Hepatomegaly, Short metacarpal, Ventricular septal defect, Anteverted nares, Microme... OMIM:211750
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... OMIM:620156
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Ventricular septal defect, Anteverted nares, Micrognathi... ORPHA:444072
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Combined Oxidative Phosphorylation Deficiency 50
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Generalized limb muscle atrophy, Myopathy, Delayed puberty, Short nose, Anemia ORPHA:2598
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Low... OMIM:619318
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... OMIM:619472
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Advanced eruption o... ORPHA:818
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Cherry red spo... ORPHA:93400
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Flexion contracture, Inguinal hernia OMIM:618379
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... OMIM:616564
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Facial hypotonia, Hypospadias, Bulbous nose, Abnormal cardiac v... ORPHA:261311
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Simplified gyral pattern, Cerebellar hemisph... ORPHA:500150
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Micrognathia, Wide nasal bridge, Lissencephaly, Micropenis, Pachygyria, A... OMIM:300215
Even-Plus Syndrome
Recurrent urinary tract infections, Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ... OMIM:616854
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Prominent nose, Micrognathia, Flexion contracture, Renal cyst, Knee flexion contractu... OMIM:210710
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Micropenis ORPHA:85282
Idiopathic Pulmonary Arterial Hypertension
Abnormal jugular vein morphology, Chronic hemolytic anemia, Abnormality of connective tissue, Rig... ORPHA:275766
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakn... ORPHA:98915
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Hypochromic anemia OMIM:606893
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic syndrome, Left ventricular hypert... OMIM:617713
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Inguinal hernia, Umbilical hernia, Wide nasal bridge OMIM:616025
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Micrognathia, Bulbous nose, Umbilical hernia, Holoprosencephaly, Hypopl... OMIM:613884
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Ac... ORPHA:275555
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum OMIM:619972
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Inguinal hernia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the ... ORPHA:1101
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... ORPHA:99931
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Abnormal tricuspid valve morphology, Atrial septal defect, Mul... ORPHA:1507
Pierpont Syndrome
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Micropenis, Short foot, Short finger, Shor... OMIM:602342
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Underdeveloped nasal alae, Micrognathia,... ORPHA:83617
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy... OMIM:236500
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:618266
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele OMIM:614450
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Cryp... ORPHA:96092
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia ORPHA:1373
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, S... ORPHA:1519
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... ORPHA:96097
Hyperparathyroidism, Transient Neonatal
Inguinal hernia, Short femur, Depressed nasal bridge, Anteverted nares, Hyperparathyroidism, Unil... OMIM:618188
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathia, Flexion co... OMIM:263210
Boomerang Dysplasia
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:1263
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Intellectual Developmental Disorder, X-Linked 91
Short foot, Short nose, Small hand, Short 5th finger OMIM:300577
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:243150
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Inguinal hernia, Ventricular septal defect, Anteverted nares, Hy... OMIM:300000
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Micrognathia, Hydrocephalus, Depressed nasal ridge, Cerebellar hypoplasia, Micr... ORPHA:163966
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Micrognathia, Partial agenesis of the corpus callosum, Abnormal lung lo... OMIM:270400
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Cigarette-paper scars, Mitral valve prolapse, Aortic root aneurysm, Recurrent si... OMIM:130000
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Urinary incontinence, Megalencephaly... OMIM:616482
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Multicystic kidney dysplasia, Prominent nasal bridge, Prominent nose ORPHA:3270
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Micrognathia, Mi... ORPHA:564
Omodysplasia 1
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Crypt... OMIM:258315
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent ductus arteriosus after premature birth, Micrognathia, Renal hypopla... OMIM:618460
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Hypoplasia... ORPHA:915
Joubert Syndrome 37
Hepatomegaly, Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Hydronephrosis, Mic... OMIM:619185
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... OMIM:619995
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... OMIM:616276
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Depressed nasal bridge, Camptodactyly of finger, Thenar muscle atr... OMIM:607015
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu... OMIM:605711
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Neonatal respiratory distress, Apnea,... OMIM:608836
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Umbilical hernia, Bulbous nose, Tetraamelia, Cryptorchidism OMIM:273390
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Fibular Hemimelia
Anophthalmia, Short femur, Spina bifida, Short toe, Fibular hypoplasia, Abnormal heart morphology... ORPHA:93323
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia OMIM:601163
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Absent radius, Urethral atresia, Transposition of the great arteries... OMIM:314390
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Degeneration of the lateral corticospinal tracts, Urinary urgency, Hypoplas... OMIM:604360
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Mild fetal ventriculomegaly, Patent ductus arteriosus, Agenesis of corpus callosum OMIM:610498
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Depressed nasal bridge, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac ... OMIM:608776
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Coarcta... ORPHA:268249
Acromelic Frontonasal Dysplasia
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Upper airway obstruction, Hypoplasi... ORPHA:1827
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the kidney, Micrognathia, Hy... ORPHA:459061
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Bulbous nose, Short foot, Hydronephrosis, Mesomelia, Umbilical hernia, ... ORPHA:2496
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Long nose, Carious teeth... OMIM:617602
Meier-Gorlin Syndrome 4
Microcephaly, Hypoplasia of the maxilla, Micrognathia, Intrauterine growth retardation, Emphysema OMIM:613804
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Abnormal pattern of respiration, Short nose, Microcephaly ORPHA:833
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Recurrent respiratory infections, Microcephaly, Abnormal globus pallidus morphology, Hypoplasia o... OMIM:618603
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Microcephaly, Bladder diverticulum, Umbilical hernia, Emphysema OMIM:219100
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Hypoplasia of the maxilla, Hydrocephalus, Agenesis of corpus callosum, Ventriculo... OMIM:109120
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Mic... OMIM:619503
Marden-Walker Syndrome
Hypospadias, Anteverted nares, Micrognathia, Microcephaly, Renal hypoplasia, Hypoplasia of the br... OMIM:248700
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal al... ORPHA:398156
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Wide nose, Anophthalmia, Hypospadias, Abnormal d... ORPHA:2556
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, H... OMIM:164210
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Convex nasal ridge, Ventricular septal defect, Wide nasal bridge OMIM:314320
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Micrognathia, Short thumb, Cryptorchidism, Umbilical hernia, Joint contracture o... OMIM:600325
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Anteverted nares, R... OMIM:220500
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infect... OMIM:619487
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Leukocytosis, Ischemic stroke, Left ventricular hypertrophy, Hypopituitarism... ORPHA:90065
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Hypospadias, Absent septum pellucidum, Micrognathia, Dysplastic corpus... OMIM:618820
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Hypospadias, Cryptorc... ORPHA:494344
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia... ORPHA:373
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea, Thin corpus callosum OMIM:616277
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, 3-Methylglutaconic a... ORPHA:496790
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Elevated alkaline phosphatas... ORPHA:411634
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... OMIM:618624
Monosomy 18Q
Mandibular prognathia, Depressed nasal bridge, Absence of the pulmonary valve, Prominent nose, Se... ORPHA:1600
Maternal Phenylketonuria
Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal renal morphology, Wide nasal ... ORPHA:2209
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Muscular Hypertonia, Lethal
Umbilical hernia OMIM:254120
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Anteverted nares, Cholelithias... ORPHA:464738
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Inguinal hernia, Arterial dissection, Camptodactyly of finger, Arterial tortuos... ORPHA:284984
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia, Hypogonadism ORPHA:2528
Intellectual Developmental Disorder, Autosomal Dominant 43
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Pulmonic stenosis, Umbilical hernia,... OMIM:616977
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Wide nasal bridge, Vascular dilatation OMIM:614859
Peripartum Cardiomyopathy
Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat... ORPHA:563
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Noncommunicating hydrocephalus, ... OMIM:619320
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Convex nasal ridge, Ventricular septal defect, Wide nasal bridge ORPHA:3369
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Hypoplasia of penis, Anteverted nares, Femoral hernia, Renal insufficiency, Cryp... ORPHA:96147
Trigonocephaly 1
Omphalocele OMIM:190440
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Fabry Disease
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Angiokeratoma, Tel... ORPHA:324
Dent Disease
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Proteinuria, Non-acidotic proxima... ORPHA:1652
Microtia
Holoprosencephaly ORPHA:83463
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Partial agenesis of the corpus callosum, La... OMIM:619517
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Diastasis recti, Large pl... ORPHA:254528
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, A... ORPHA:75389
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Vascular dilatation ORPHA:2924
Thakker-Donnai Syndrome
Anteverted nares, Ventricular septal defect, Congenital diaphragmatic hernia, Bulbous nose, Trans... ORPHA:1780
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Inguinal hernia, Abnormal mitral valve morphology, Prominent nose, Wide nasal bridge, Short dista... ORPHA:1292
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P... OMIM:618829
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp... OMIM:614922
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Short ribs, Preductal coarctation of the aorta,... OMIM:215045
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... ORPHA:3093
Tangier Disease
Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca... ORPHA:31150
Distal Duplication 15Q
Omphalocele, Camptodactyly of finger ORPHA:1707
Transaldolase Deficiency
Abnormality of the kidney, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of ... ORPHA:101028
Familial Visceral Myopathy
Hyperparathyroidism, Hydroureter, Anteverted nares, Camptodactyly of finger, Prominent nasal brid... ORPHA:2604
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Patent ductus arterios... OMIM:618974
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Aplasia of the abdominal wall musculature,... OMIM:100100
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Hajdu-Cheney Syndrome
Wide nose, Inguinal hernia, Ventricular septal defect, Anteverted nares, Hypospadias, Micrognathi... OMIM:102500
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge, Microcephaly OMIM:200130
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Choan... ORPHA:2067
Vici Syndrome
Lymphopenia, Wide nose, Depressed nasal bridge, Micrognathia, Dilated cardiomyopathy, Decreased p... OMIM:242840
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydronephrosis, Hernia ORPHA:251046
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Underdevelope... ORPHA:2083
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Type II lissencephaly, Microcephaly, Hydrocephalus, Partial abse... OMIM:613150
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricle dilatation, Cerebellar ... OMIM:607596
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Increased... ORPHA:95717
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Open mouth OMIM:616816
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal br... OMIM:618828
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Ventricular septal defect, Prominent nasal bridge, Anterior pituitary hypopl... ORPHA:466791
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Aortic arch aneurysm, Broad nasal... OMIM:135500
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Micrognathia, Microcephaly, Recurrent upper respiratory tract infection... ORPHA:3078
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:616034
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Alg3-Cdg
Lipodystrophy, Abnormality of the nose, Abnormality of the endocrine system, Coarctation of the d... ORPHA:79321
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Hernia, Partial absence of toe, Hepatomegaly, Anteverted na... ORPHA:955
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Und... ORPHA:2315
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec... OMIM:620233
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Cantú Syndrome
Abnormal heart valve morphology, Anteverted nares, Short hallux, Cardiomegaly, Patent ductus arte... ORPHA:1517
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, B... OMIM:609757
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Dental m... OMIM:610733
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal brid... OMIM:608629
Mogs-Cdg
Hepatomegaly, Wide nose, Cardiomegaly, Thrombocytopenia, Retrognathia, Hepatosplenomegaly, Hydroc... ORPHA:79330
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Agenesis of cerebellar vermis, Cerebellar vermis hypopl... OMIM:613451
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Cutis marmorata, Renal hypoplasia, Hypoplasia of the corpus callosum, Vesicoure... OMIM:613735
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Posterior fossa cyst at th... ORPHA:2356
Fetal Alcohol Syndrome
Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Microphtha... ORPHA:1915
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Microcephaly, Micrognathia, Lissencephaly, Cerebellar hypoplasia, Neonatal deat... OMIM:616342
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Wide nose, Hypospadias, Nephroblastoma, Anteverted nares, Micrognat... OMIM:257300
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Depressed nasal bridge, Hy... ORPHA:912
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Crypto... ORPHA:3306
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Respirato... ORPHA:2031
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia OMIM:145600
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Galactosemia I
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:230400
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Anophthalmia, Abnormal thymus morphology, Choana... OMIM:219000
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Pontocerebellar Hypoplasia, Type 11
Recurrent respiratory infections, Microcephaly, Hypoplasia of the pons, Bulbous nose, Cerebellar ... OMIM:617695
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Atelectasis, Wide nasal bridge, Coug... ORPHA:2314
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am... ORPHA:213
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Depressed nasal bridge, Anteverted nares, Congenital diaph... OMIM:614080
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Micrognathia, Knee flexion contracture, Camptodactyly, Microphthalmia OMIM:619694
Fanconi Anemia
Micrognathia, Leukopenia, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, H... ORPHA:84
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad n... OMIM:618846
Iniencephaly
Encephalocele, Renal agenesis, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Myelomeningocele, Pulmonic stenosis, Contracture of the proximal interphalangeal... OMIM:620141
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Underdeveloped nasal alae, Broad nasal tip, Wide na... OMIM:272950
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Charge Syndrome
Anophthalmia, Vesicoureteral reflux, Micropenis, Depressed nasal bridge, Facial palsy, Hypogonado... ORPHA:138
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomeru... ORPHA:534
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Micrognathia, Prominent nose, Microphthalmia OMIM:606744
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Progressive microcephaly ORPHA:71277
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Distal Deletion 12Q
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... ORPHA:96149
Temtamy Syndrome
Micrognathia, Thick corpus callosum, Hypoplasia of teeth, Microphthalmia, Agenesis of corpus call... OMIM:218340
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Microphthalmia, Short nose, Ret... OMIM:234050
Meckel Syndrome 13
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia, Micrognathia OMIM:617562
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Patent ductus arteriosus, Respiratory ... OMIM:616867
Cranioectodermal Dysplasia 2
Hepatomegaly, Inguinal hernia, Renal insufficiency, Depressed nasal bridge, Rhizomelia, Micrognat... OMIM:613610
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia, M... OMIM:613309
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury, Hyperkalemia, Reduced circulating aldolase concentration ORPHA:57
Melnick-Needles Syndrome
Omphalocele, Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Abnormal cardiac... ORPHA:2484
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Depressed nasal bridge, Ventriculomegaly, Microcephaly OMIM:615286
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Mitral valve... ORPHA:371428
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cerebral white matter atro... OMIM:615042
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Malar flattening, Ventricular septal defect, Aplasia/Hypoplasia of the dis... ORPHA:94066
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
6Q25 Microdeletion Syndrome
Microcephaly, Micrognathia, Wide nasal bridge, Agenesis of corpus callosum, Ventriculomegaly ORPHA:251056
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... OMIM:614921
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Monosomy 13Q14
Prominent nasal bridge, Micrognathia, Microcephaly, Wide nasal bridge, Holoprosencephaly, Hypopla... ORPHA:1587
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Cerebellar vermis hypoplasia, Proteinuria, Depressed nasal bridge,... OMIM:616901
Catel-Manzke Syndrome
Short humerus, Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Short ... OMIM:616145
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Cerebral atrophy OMIM:618637
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Inguinal hernia, Shoulder flexion contracture, Micromel... OMIM:255800
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:608647
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Hy... ORPHA:1812
Lissencephaly 6 With Microcephaly
Anteverted nares, Microcephaly, Bulbous nose, Partial agenesis of the corpus callosum, Simplified... OMIM:616212
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Bulbous nose, Simplified gyral pattern,... OMIM:615219
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hyp... ORPHA:79345
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Depressed nasal bridge, Choanal atresia, Hiatus hernia, Pancreat... OMIM:610199
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Alg9-Cdg
Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, A... ORPHA:79328
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Prune belly OMIM:601389
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Failure of eruption of permanent teeth, Hypoplasia of penis, Crypt... ORPHA:2250
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Prominent nasal bridge, Abnormal dental enamel morph... ORPHA:96169
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Trisomy 20P
Inguinal hernia, Anteverted nares, Camptodactyly of finger, Spina bifida, Micrognathia, Hypospadi... ORPHA:261318
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Anteverted nares, Prominent nasal bridge, Hyd... ORPHA:220493
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... OMIM:620326
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Penile Agenesis
Urethral atresia, male, Ventricular septal defect, Depressed nasal bridge, Cloacal abnormality, M... ORPHA:49
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, M... ORPHA:48431
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... ORPHA:363528
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Hypoplasia of the corpus callosum, Short nose, Ventriculomegaly ORPHA:217385
Bladder Exstrophy
Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy ORPHA:93930
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal nasal... ORPHA:404440
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Cerebellar hypoplasia, Aplasia of the nose, Microphthalmia, ... OMIM:236100
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Thyroid Hemiagenesis
Thyroid agenesis, Macroglossia, Umbilical hernia ORPHA:95719
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplas... OMIM:618500
Cerebrooculofacioskeletal Syndrome 2
Prominent nose, Micrognathia, Microcephaly, Death in childhood, Microphthalmia, Micropenis, Cutan... OMIM:610756
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Abnormal lactate de... ORPHA:284426
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis OMIM:619797
Takenouchi-Kosaki Syndrome
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorc... OMIM:616737
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Renal cyst,... OMIM:250410
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Retrognathia, Bruising susceptibility OMIM:614816
Lujo Hemorrhagic Fever
Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Atelectasis, Oliguria, ... ORPHA:319213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Micrognathia, Pac... OMIM:236670
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia, Neph... OMIM:617056
Weill-Marchesani Syndrome 2
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, P... OMIM:608328
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Anteverted nares, Ventricular septal... OMIM:616651
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Central apnea, Depressed na... OMIM:608091
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... OMIM:136140
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Abnormal dental enamel morphology, Choanal... ORPHA:861
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Diastasis recti, Short proximal phalanx of finger, Cryptorchi... OMIM:616638
Scarf Syndrome
Inguinal hernia, Diastasis recti, Cryptorchidism, Micropenis, Perineal hypospadias, Short sternum... ORPHA:3134
Martsolf Syndrome 2
Lateral ventricle dilatation, Broad nasal tip OMIM:619420
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Abnormality of the sple... ORPHA:1834
Woods Syndrome
Ventricular septal defect, Wide nasal bridge, Supernumerary nipple, Low hanging columella OMIM:615236
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... OMIM:615398
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Filippi Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Low hanging columella, Wide... OMIM:272440
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Isolated Exencephaly
Depressed nasal bridge, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corp... ORPHA:563612
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, Short nose, Micropenis, Ap... OMIM:617822
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Micrognathia, Myelomeningocele, ... ORPHA:2437
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Depressed nasal ridge ORPHA:1861
Diabetes Insipidus, Neurohypophyseal
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose OMIM:125700
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor... ORPHA:2075
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Hypoplasia of the pons, Dilatation of the renal pelvis, Interstitial emphysema, Bro... OMIM:619708
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Deep philtrum, Hydro... OMIM:619833
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea... OMIM:220110
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... OMIM:617542
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Depressed nasal bridge, Pulmonary artery stenosis, Wide nasal bridge, Acute lymphob... OMIM:280000
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Cerebral atrophy, Nephrotic syndrome, Respiratory... ORPHA:79327
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Hereditary Methemoglobinemia
Cyanosis, Microcephaly, Temporal cortical atrophy, Exertional dyspnea, Frontal cortical atrophy, ... ORPHA:621
Fontaine Progeroid Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Hypoplasia of the abdominal wall musc... OMIM:612289
Cryofibrinogenemia, Familial Primary
Hematuria, Acrocyanosis, Transient nephrotic syndrome OMIM:123540
Vici Syndrome
Recurrent respiratory infections, Death in infancy, Hypoplasia of the pons, Ureteral atresia, Dep... ORPHA:1493
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Distal amyotrophy, Hypertrophic cardiomyopathy, Short nose OMIM:617183
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Keutel Syndrome
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... ORPHA:85202
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, H... ORPHA:1791
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Bifid nasal tip, Short thumb, Patent ductus ar... ORPHA:2712
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Micrognathia, Cryptorchidi... ORPHA:2789
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Microphthalmia, Sh... OMIM:618571
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent fo... OMIM:620327
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Sinusitis, Proteinuria, Recurrent intrapulmonary hemorrhage,... ORPHA:183
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal mor... ORPHA:477817
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... OMIM:300400
Perlman Syndrome
Nephrogenic rest, Depressed nasal bridge, Renal hamartoma, Congenital diaphragmatic hernia, Micro... OMIM:267000
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Malan Overgrowth Syndrome
Optic disc hypoplasia, Depressed nasal bridge, Lateral ventricle dilatation, High palate, Narrow ... ORPHA:420179
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium m... ORPHA:1335
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Distal Deletion 19P
Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Keloids, Tricuspid valve pr... ORPHA:96129
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the kidney, Precocious puberty, Abnormal heart morph... ORPHA:261652
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... ORPHA:95716
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Scapular winging, Inguinal hernia, Hypoplasia of th... OMIM:278250
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Micrognath... OMIM:615948
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul... OMIM:618278
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Apert Syndrome
Cryptorchidism, Vaginal atresia OMIM:101200
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Neurogenic bladder, Anteverted nares, Ventricular sep... ORPHA:2710
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Tarp Syndrome
Anteverted nares, Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Wide nasal bridge,... OMIM:311900
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Hypercalciuria, Pulmonary infiltrates, Hypoxemia, Restrictive ventilator... OMIM:181000
Roifman-Chitayat Syndrome
Short metacarpal, Depressed nasal bridge, Ectopic kidney, Short metatarsal, Wide nasal bridge, Um... OMIM:613328
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary ... OMIM:618021
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Choanal atresia, Hypospadias, Underdeveloped nasal... ORPHA:163979
Adenylosuccinate Lyase Deficiency
Short nose, Hypointensity of cerebral white matter on MRI, Anteverted nares, Microcephaly ORPHA:46
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Micrognathia, Microcephaly, Patent ductus arteriosus, Pach... ORPHA:452
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res... ORPHA:449280
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis ORPHA:182050
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Fraser Syndrome 2
Wide nose, Renal agenesis, Unilateral renal agenesis, Underdeveloped nasal alae, Renal hypoplasia... OMIM:617666
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Wide nasal... OMIM:619179
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Epispadias, Abnormal penis morphology, Multicystic kidney ... ORPHA:2461
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Hydrocephalus, Partial ag... OMIM:602398
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Cryptorchidism, Shortening of all distal ... OMIM:619135
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ... ORPHA:139466
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... OMIM:602088
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Probst bundles, Anteverted nares, Hydrocephalus, Patent ductus arteriosus, ... OMIM:612863
Galloway-Mowat Syndrome 6
Anteverted nares, Proteinuria, Microcephaly, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:618347
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/... ORPHA:289
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Anteverted nares, Hypospadias, Underdevelop... OMIM:613026
Acromelic Frontonasal Dysostosis
Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Broad nasal tip, Bifid ... OMIM:603671
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Cryptorchidism, ... ORPHA:353281
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Micrognathia, Aplas... ORPHA:1225
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Narrow nasal ridge, Microcephaly, Bulbous nose, Hydrocephalus, Exces... OMIM:612940
Pierpont Syndrome
Wide nasal ridge, Abnormal cortical gyration, Abnormal subcutaneous fat tissue distribution, Prim... ORPHA:487825
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Leukopenia, Atrial se... OMIM:620184
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal at... ORPHA:1135
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,... OMIM:173900
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Wide nose, Hypoplasia of the bladder, Bicuspid aortic valve... OMIM:300707
Bardet-Biedl Syndrome 17
Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Anosmia, Stage 5 chronic... OMIM:615994
Microcephaly-Micromelia Syndrome
Wide nose, Micrognathia, Aqueductal stenosis, Microcephaly, Simplified gyral pattern, Aplasia/Hyp... OMIM:251230
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hypomagnesemia, ... OMIM:613845
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Microcephaly, Dyspnea, Microphthalmia, Micropenis, Global brain atrophy OMIM:308350
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... OMIM:617237
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Kury-Isidor Syndrome
Ventricular septal defect, Anteverted nares, Hydronephrosis OMIM:619762
Cockayne Syndrome Type 1
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Anophthalmia, Foot joint contracture, S... ORPHA:90321
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Microcephaly, Pneumothorax, Recurrent pneumonia, Respiratory ... ORPHA:90349
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Inguinal hernia, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal bri... OMIM:614052
Vacterl/Vater Association
Omphalocele, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospad... ORPHA:887
Zimmermann-Laband Syndrome 2
Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Macroglossia, Thi... OMIM:616455
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Choanal a... ORPHA:1716
Gabriele-De Vries Syndrome
Facial hypotonia, Aortopulmonary collateral arteries, Micrognathia, Broad nasal tip, Cryptorchidi... OMIM:617557
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Hepara... OMIM:309900
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... ORPHA:2701
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangea... OMIM:305620
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,... OMIM:603467
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, Short nose OMIM:300558
Fraser Syndrome
Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ... ORPHA:2052
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal ... ORPHA:2510
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Bulbous nose, ... OMIM:617061
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Microphthalmia, Dandy-Walker malformation, I... OMIM:603194
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorc... ORPHA:1988
Steinfeld Syndrome
Holoprosencephaly, Aplasia of the nose, Microphthalmia, Bifid uvula, Median cleft lip and palate OMIM:184705
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular leukomalacia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypo... ORPHA:255138
Pontocerebellar Hypoplasia Type 1
Hypoplasia of the pons, Congenital laryngeal stridor, Thin corpus callosum, Respiratory failure, ... ORPHA:2254
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... ORPHA:1529
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Colpo... OMIM:620113
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Decreased response t... OMIM:614114
Prolidase Deficiency
Depressed nasal bridge, Petechiae, Micrognathia, Hyperimidodipeptiduria, Asthma, Recurrent pneumo... OMIM:170100
Odontochondrodysplasia
Delayed eruption of teeth, Depressed nasal bridge, Micromelia, Patent ductus arteriosus, Short pa... ORPHA:166272
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Widened atrophic scar, Inguinal hernia, Arterial dissection, Elbow flexion... ORPHA:1900
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... ORPHA:264200
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Prominent umbilicus, Hepatomegaly, Mandibular prognathia, Li... OMIM:269700
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Hypospadias, Micrognathia, Cryptorchidism, Umbilical hernia, Microphthalmia ORPHA:2505
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Atelectasis, Respiratory insufficien... ORPHA:258
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Otopalatodigital Syndrome Type 2
Encephalocele, Omphalocele, Abnormal heart valve morphology, Depressed nasal bridge, Camptodactyl... ORPHA:90652
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Short ribs, Short ... OMIM:613320
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Abnormal cerebellum morphology... ORPHA:1449
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Hypospadias, Anteverted nares, Depressed nasal bridge, Choanal... OMIM:123790
Nanophthalmos
Microphthalmia ORPHA:35612
Marfan Syndrome
Pulmonary artery dilatation, Spontaneous pneumothorax, Micrognathia, Meningocele, Increased axial... ORPHA:558
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Wide nasal ... ORPHA:1352
Desbuquois Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Apl... ORPHA:1425
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent ga... ORPHA:3186
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Wide nasal bridge, Lissencephaly, Cerebellar hypoplasia, Death i... OMIM:620316
Goodpasture Syndrome
Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Cough, Pulmonary infiltrates, Restrictive... OMIM:233450
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Fetal... ORPHA:264450
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Functional abnormality of the bladder ORPHA:71211
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine growth retardation OMIM:300863
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Renal cyst, Cough, Microphthalmia, Agenesis of corpus callosu... ORPHA:137675
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Scapular winging, Inguinal hernia, Bicuspid aortic valve, Short metacarpal... OMIM:150230
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Aplastic anemia, Ventricular septal defect, Absent thumb, Hypergonadotropi... OMIM:300514
Char Syndrome
Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t... ORPHA:46627
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Patent ductu... OMIM:217980
Achondrogenesis, Type Ib
Inguinal hernia, Micromelia, Short ribs, Umbilical hernia, Malar flattening OMIM:600972
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Hepatomegaly, Anteverted nares, Unilateral renal agenesis... OMIM:216360
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidism, Me... ORPHA:2241
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... ORPHA:365
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Hypoplastic right heart, Depressed nasal bridge, Anteverted nares, Ventricular septa... OMIM:616894
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Focal Dermal Hypoplasia
Ureteral duplication, Cleft ala nasi, Anophthalmia, Congenital diaphragmatic hernia, Short metata... OMIM:305600
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Abnormal heart morphology DECIPHER:52
Legionnaires Disease
Renal insufficiency, Proteinuria, Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lun... ORPHA:549
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic... OMIM:619355
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Depressed nasal bridge, Diastasis recti, Abnormal mitral valve ... ORPHA:576
Macs Syndrome
Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Micrognathia, Cryptorchidism, U... OMIM:613075
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,... ORPHA:49827
Neuropathy, Congenital Hypomyelinating, 3
Micrognathia, Microcephaly, Respiratory insufficiency, Respiratory failure, Hypoplasia of the cor... OMIM:618186
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Micrognat... ORPHA:2990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Microcephaly, Restrictive ventilatory defect, Respiratory failure, Abnormal cerebral white matter... OMIM:606612
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect... OMIM:123700
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Depressed nasal bridge, Choanal atresia, Abnormality of thyroid physiology, Prominent nose, Bulbo... OMIM:300968
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Hypopnea, 3-Methyl... OMIM:617248
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogona... OMIM:227645
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Bicuspid aortic valve, Micrognathia, Bulbous nose, Macroglossia, Short palm, Umbilical... OMIM:614501
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Choanal atresia, Secundu... OMIM:612562
Caudal Duplication
Omphalocele ORPHA:1756
Gapo Syndrome
Hepatomegaly, Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Facial palsy, Micr... OMIM:230740
Tetrasomy 9P
Myositis, Micrognathia, Micropenis, Patent foramen ovale, Amelogenesis imperfecta, Absent gallbla... ORPHA:3310
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Death in childhood, Lateral ventricle dilatation, Respiratory fai... OMIM:619847
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Bladder exstrophy, Hepatomegal... OMIM:301068
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... ORPHA:93110
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Ureterovesical stenosis, Micrognathia, Hydrocephalus, A... ORPHA:314585
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Skeletal muscle atrophy, Micrognathia, Cryptorchidism, Joint contracture, Short nose OMIM:615419
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Lateral ventricle dilatatio... OMIM:619244
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed nasal tip, Latera... ORPHA:293725
Hydrolethalus Syndrome 1
Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Abn... OMIM:236680
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Microcephaly, Neonatal asphyxia, Hypoplasia of teeth, Multiple bladder diverticula, ... ORPHA:2728
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Depressed nasal bridge, Antever... OMIM:618161
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:618348
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Fryns Syndrome
Omphalocele, Microretrognathia, Ureteral duplication, Ectopic pancreatic tissue, Anteverted nares... OMIM:229850
Microcephaly, Amish Type
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... OMIM:607196
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognathia, Cryptorchid... ORPHA:93328
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis OMIM:620365
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Em... OMIM:224690
Hartsfield Syndrome
Wide nose, Hypospadias, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Micropen... OMIM:615465
Robinow Syndrome, Autosomal Dominant 2
Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Dental malocclusion, Micr... OMIM:616331
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Spina bifida, Microcephaly, Abno... ORPHA:1327
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... OMIM:614833
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Absent... ORPHA:87
Galloway-Mowat Syndrome
Proteinuria, Micrognathia, Aqueductal stenosis, Microcephaly, Nephrotic syndrome, Nephropathy, Pa... ORPHA:2065
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Lateral ventricle dilatation, Pontocerebellar atrophy, High palate, Lon... OMIM:617854
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral calcification, Proteinuria, Apnea, Respiratory insufficiency, Abnormal... OMIM:618886
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect OMIM:616898
Moebius Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Hypogonadotropic hypogonadism, Micrognat... OMIM:157900
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Renal duplication, Depressed nasal bridge... OMIM:268310
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Depressed nasal bridge, Elevated hemoglobin A1c, Narrow... OMIM:619127
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy ORPHA:217563
Neu-Laxova Syndrome 1
Micrognathia, Depressed nasal ridge, Neonatal death, Agenesis of corpus callosum, Dandy-Walker ma... OMIM:256520
Free Sialic Acid Storage Disease
Nephrotic syndrome, Athetosis, Proteinuria, Ataxia ORPHA:834
Heme Oxygenase 1 Deficiency
Proteinuria, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614034
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Hypoplastic left heart ORPHA:2772
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspid valve morpholo... ORPHA:217085
Ogden Syndrome
Microretrognathia, Torticollis, Inguinal hernia, Ventricular septal defect, Underdeveloped nasal ... ORPHA:276432
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia... OMIM:613457
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Atrial septal... ORPHA:672
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Stage 3 chronic kidney disease, Renal insufficiency, Microcephaly,... OMIM:617595
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Micrognathia, ... OMIM:164280
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Renal cyst, Cerebral atrophy, Nephrocalcinosis, Abnormal basal... ORPHA:445038
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Patent ductus arteriosus, Horseshoe kidney, Subvalvular aort... ORPHA:65286
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Caudate atrophy, Agenesis of corpus callosum OMIM:618238
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Trisomy 12P
Supernumerary nipple, Micrognathia, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Abnormalit... ORPHA:1699
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Prominent nose, Micrognathia, Patent ductus arteriosus, Macroglossia, ... OMIM:615668
Toluene Embryopathy
Micrognathia, Cryptorchidism, Abnormal localization of kidney, Hypoplasia of the zygomatic bone, ... ORPHA:1920
Holt-Oram Syndrome
Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret... ORPHA:392
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney ORPHA:369
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Aplasia of the 3rd finger, Umbilical hern... OMIM:619218
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Marshall-Smith Syndrome
Apnea, Choanal stenosis, Aspiration pneumonia, Death in childhood, Pachygyria, Agenesis of corpus... OMIM:602535
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Short columella, Agenesis of corpus callosum, Microcephaly OMIM:619989
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Bilateral cho... ORPHA:314679
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 chronic kidney... OMIM:166300
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Facial hypotonia, Micrognathia OMIM:614526
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Thick lower lip ver... OMIM:620075
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Res... ORPHA:26791
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Facial hypotonia, Mitral valve prolapse, Atrophic scars, Camptodactyly, Short no... OMIM:615539
Scarf Syndrome
Inguinal hernia, Diastasis recti, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Micr... OMIM:312830
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Cryptorchidism, Wide nasal ridge, Abnormal heart morphology ORPHA:531151
Alg2-Cdg
Lateral ventricle dilatation, Wide nasal bridge ORPHA:79326
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Enamel hypoplasia, Thick na... ORPHA:139474
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micromelia, Micrognathia, Ectopic kidney, Renal cyst, Phocomelia... OMIM:122470
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal penis morphology, Hypospadias, Abnormal cortical gyration, Epispadias, De... ORPHA:2211
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the upper urinary tract, Micrognathia, Abnormality of the urethra, Aplasia/Hypopla... ORPHA:2145
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... ORPHA:506
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Bicuspid aortic valve, Prominent nasal bridge, Ventricular se... OMIM:610443
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpu... ORPHA:300570
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of corpus callosum, Cleft palate, Cleft upper lip OMIM:614402
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1381
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Decreased muscle mass, Inguinal hernia, Abnormal heart valve morphology, Crypt... ORPHA:2953
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Immunodeficiency 9
Myopathy, Hypoplasia of the thymus, Amelogenesis imperfecta OMIM:612782
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Ataxia, Mesangial hypercellularity, Stage 5 chronic kid... OMIM:617575
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspid valve morpholo... ORPHA:217093
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Narrow nasal ridge, Micrognathia, ... OMIM:251300
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Wide nose, Cerebral calcification, Protei... OMIM:617303
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Cerebral calcification, Proteinuria, Hepa... ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Macroorchidism, Ventricular septal defect, Prominent nasal bridge, Micrognat... OMIM:309520
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... OMIM:619343
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrop... ORPHA:746
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Microcephaly ORPHA:2163
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Abnormally large globe, Broad nasal tip, Short toe, Abnormal renal morphol... OMIM:239300
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Prominent nasal bridge, Micrognathia, Microcephaly, Dysplastic corpus callosum, Lacticaciduria, R... OMIM:604273
Brachydactyly, Type B1
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... OMIM:113000
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, D... OMIM:270100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Congenita... ORPHA:226313
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis, Acute ki... ORPHA:449285
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Abnormal bladder mor... ORPHA:453499
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Patent ductus arteriosus, Renal cyst, Respiratory insufficiency, Colpocephaly, Hypo... OMIM:617260
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Microcephaly, Respiratory insufficiency due to muscle weakness, Dyspnea, Nephrolithiasis, Respira... ORPHA:352447
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge, Dandy-Walker malformation, Progressive microcephaly ORPHA:438178
Coffin-Siris Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... ORPHA:1465
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein... ORPHA:709
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypothyroidism, Patent ductus ar... OMIM:601005
Mosaic Trisomy 16
Ventricular septal defect, Hypospadias, Maternal diabetes, Abnormality of the nose, Large placent... ORPHA:1708
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Situs inversus totalis, Sp... OMIM:208540
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bulbous nose, Ab... ORPHA:485405
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Micrognathia, Wide nas... OMIM:620073
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia o... ORPHA:500144
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary... OMIM:620025
Immunodeficiency 54
Recurrent respiratory infections, Microcephaly, Respiratory insufficiency, Respiratory failure, I... OMIM:609981
Seckel Syndrome 9
Recurrent urinary tract infections, Ventricular septal defect, Congenital diaphragmatic hernia, M... OMIM:616777
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Rieger anomaly, Diabetes mellitus, Ventricular septal defect... OMIM:270450
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Reduced circulating growth hormone concentration, Multiple muscular ventricular septal defects, P... OMIM:615508
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Bicuspid aortic valve, Anteverted nares, Broad nasal tip, Micrognath... OMIM:618529
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia, Micromelia ORPHA:291
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Optic nerve hypoplasia, Cryptorchidism, Recurrent upper respiratory tract... OMIM:612513
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Cerebral calcification, Microcephaly, Tachypnea, Abnormal pul... OMIM:613658
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Cerebral atrophy, Abnormal basal ganglia morpho... ORPHA:391428
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Splenomegaly, Thro... OMIM:606003
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Scapular winging, Depressed nasal bridge, Anteverted nares, Ventricular septal... OMIM:618870
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... ORPHA:209905
Down Syndrome
Depressed nasal bridge, Renal hypoplasia/aplasia, Abnormality of the lymphatic system, Depressed ... ORPHA:870
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Uri... ORPHA:90324
Refsum Disease
Skeletal muscle atrophy, Short metacarpal, Renal insufficiency, Splenomegaly, Anosmia, Cardiomyop... ORPHA:773
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Micrognathia, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Retrognathia, Hydronephr... OMIM:618265
Jacobsen Syndrome
Inguinal hernia, Multicystic kidney dysplasia, Anteverted nares, Ventricular septal defect, Spina... ORPHA:2308
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Bulbous nose, Patent ductus a... OMIM:606232
Spondylo-Ocular Syndrome
Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens, Facial hypotonia ORPHA:85194
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Choanal atresia, Dyspnea, Wide nasal brid... ORPHA:2759
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Thick cerebral cortex, Cerebellar ... ORPHA:2834
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... OMIM:227650
Vater/Vacterl Association
Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Ventricular septal def... OMIM:192350
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Denta... OMIM:182212
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Proteinuria, Micrognathia, Hypothyroidism, Cryptorchidism, Den... OMIM:300519
Becker Muscular Dystrophy
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria ORPHA:98895
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, Optic nerve hypopla... ORPHA:221139
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Natal tooth, Prominent nose, Patent ductus arteriosus, Renal hy... OMIM:616300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... OMIM:608612
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... ORPHA:199241
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Carotid artery stenosi... ORPHA:536532
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Patent ductus arteriosus, Increased size of the mandible, Hydrone... OMIM:300048
Monosomy 9Q22.3
Delayed eruption of teeth, Ovarian fibroma, Nephroblastoma, Rhabdomyosarcoma, Cardiac fibroma, Um... ORPHA:77301
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata... OMIM:611773
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excretion in urin... OMIM:253220
Non-Distal Duplication 13Q
Micrognathia, Cryptorchidism, Hernia, Short nose, Aplasia/Hypoplasia affecting the eye ORPHA:1702
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Icf Syndrome
Depressed nasal bridge, Abnormality of neutrophils, Micrognathia, Macroglossia, Umbilical hernia,... ORPHA:2268
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... OMIM:600901
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia... ORPHA:107
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Conve... ORPHA:3015
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Normocytic anemia, Inguinal hernia, Anteverted nares, Micrognathia, Acanthocyto... OMIM:618947
2Q24 Microdeletion Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1617
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Short fourth metatarsal, Cardiomegaly... OMIM:618143
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Dep... ORPHA:3474
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Prominent umbilicus, Hepatomegaly, Mandibular prognathia, Li... OMIM:608594
Cockayne Syndrome B
Mandibular prognathia, Basal ganglia calcification, Hypoplasia of the iris, Death in childhood, M... OMIM:133540
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Anteverted nares, Optic nerve hypoplasia, Hypoplasia of the corpus... ORPHA:228384
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Agenesis of corpus callosum, Dandy-Walker malformation, Pa... OMIM:249000
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Atrial septal defect, Mesocar... ORPHA:2044
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Short nose, Mitral valve prolapse ORPHA:90653
Bohring-Opitz Syndrome
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcepha... OMIM:605039
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Microcephaly, Stage 5 chronic kidney dise... OMIM:617729
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia, Hydronephrosis OMIM:235760
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Curry-Jones Syndrome
Occipital meningocele, Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microphthalmia, ... OMIM:601707
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Prominent nasal bridge, Ankle flexion contracture, Hypospadias, Unilat... ORPHA:464311
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, P... OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c... OMIM:615287
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... OMIM:614613
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Cryptor... ORPHA:52
Congenital Heart Block
Cyanosis, Crackles, Patent ductus arteriosus, Intrauterine growth retardation, Pleural effusion ORPHA:60041
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Wide nose, Ventricular septal defect, Optic nerve hypoplasia, Underdeveloped nasal alae, Cryptorc... OMIM:617506
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Decreased liver function OMIM:602199
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Ataxia, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi s... ORPHA:436271
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Cerebellar hypoplasia, Intrauterine growth retardation, Agenesis of corpu... ORPHA:238750
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Apl... ORPHA:2839
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Microphthalmia, Dilated cardiomyopathy, Hepatomegaly OMIM:618805
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Vesicouret... OMIM:614749
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Spina bifida occulta, Micrognathia ORPHA:1514
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Carpenter Syndrome
Umbilical hernia, Patent ductus arteriosus, Polysplenia, Cryptorchidism ORPHA:65759
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodactyly, Aplasia/Hypoplasia of th... OMIM:602418
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Atrial septal defect,... OMIM:610536
3Mc Syndrome 1
Omphalocele, Ventricular septal defect, Diastasis recti, Supernumerary nipple, Patent ductus arte... OMIM:257920
Nanophthalmos 4
Microphthalmia OMIM:615972
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cutaneous photosensitivity, Microcephaly OMIM:278780
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Leigh Syndrome
Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Focal substantia nigra T... OMIM:256000
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Weill-Marchesani Syndrome
Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Broad n... ORPHA:96121
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Ventricular septal defect, Anteverted nares, Adrenal hypoplasia, Micrognathia, Hypo... OMIM:214100
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Cellulitis, Mi... OMIM:153400
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Wide nasal bridge, Micrognathia ORPHA:1438
Peroxisome Biogenesis Disorder 11A (Zellweger)
Depressed nasal bridge, Multiple renal cysts, Anteverted nares, Renal cyst OMIM:614883
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... OMIM:613154
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Agenesis of corpus callosum OMIM:250620
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Potocki-Shaffer Syndrome
Short nose, Micropenis, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Atelectasis, Erythema, Hematuria, Coug... ORPHA:728
Craniosynostosis 3
Partial agenesis of the corpus callosum, Dental malocclusion OMIM:615314
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Pa... OMIM:617159
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspirator... OMIM:604320
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Anteverted nares, Optic nerve hypoplasia, Wide mouth, Colpocephaly, High palate... ORPHA:261250
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Proteinuria, Elevated circulating alkaline phosphatase concentrati... ORPHA:263455
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Ohdo Syndrome
Anteverted nares, Proteinuria, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplasi... OMIM:249620
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Vesicoureteral reflux, Patent foramen ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Vesicoureteral reflux, Patent foramen ... ORPHA:353277
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular ... ORPHA:308552
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Neutropenia, Atrial s... OMIM:618067
Mucopolysaccharidosis Type 2
Hepatomegaly, Wide nose, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary val... ORPHA:580
Okamoto Syndrome
Omphalocele, Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Ventri... ORPHA:2729
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Broad nasal tip, Bilateral... OMIM:619542
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Luo-Schoch-Yamamoto Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Small hand, Short foot, Umbilical hernia OMIM:619460
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Depressed nasal bridge, Cartilaginous ossificati... OMIM:245150
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Microcephaly, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Neonatal Marfan Syndrome
Neonatal respiratory distress, Micrognathia, Wide nasal bridge, Hypoxemia, Emphysema ORPHA:284979
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Neurogenic bladder, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hy... OMIM:617669
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Meckel Syndrome, Type 9
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia OMIM:614209
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Depressed nasal bridge, Micrognathia, Precocious puberty, Patent ductus arter... ORPHA:369837
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... OMIM:241310
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Abnormal cerebral morphology ORPHA:70472
Jansen-De Vries Syndrome
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Central diaphragmatic hernia,... OMIM:617450
Distal Deletion 10Q
Prominent nasal bridge, Micrognathia, Prominent nose, Microcephaly, Patent ductus arteriosus, Fun... ORPHA:96148
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Elbow fl... OMIM:610758
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p... ORPHA:2791
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Short ribs, Limb undergrowth,... OMIM:618961
Chops Syndrome
Anteverted nares, Ventricular septal defect, Splenomegaly, Cryptorchidism, Patent ductus arterios... OMIM:616368
Neuraminidase Deficiency
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... OMIM:256550
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... ORPHA:904
Orofaciodigital Syndrome I
Microretrognathia, Proteinuria, Abnormal cortical gyration, Underdeveloped nasal alae, Carious te... OMIM:311200
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Distal Deletion 3P
Inguinal hernia, Anteverted nares, Micrognathia, Cryptorchidism, Umbilical hernia, Atrioventricul... ORPHA:1620
Rhombencephalosynapsis
Microretrognathia, Septo-optic dysplasia, Agenesis of cerebellar vermis, Anteverted nares, Hydroc... ORPHA:59315
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted nares, Mi... OMIM:619720
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge, Camptodactyly, Short nose OMIM:613604
Joubert Syndrome 22
Agenesis of cerebellar vermis, Temporal cortical atrophy, Renal hypoplasia, Hypoplasia of the cor... OMIM:615665
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbil... ORPHA:1778
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Prominent nasal bridge, Microcephaly, Bulbous nose, Wide nasal bridge, Small cerebral cortex, Hyp... OMIM:617360
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Abnormal aor... ORPHA:96334
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Di... OMIM:252500
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Depressed nasal bridge, Micrognathia, Nephroblastomatosis... OMIM:608022
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormality of connectiv... ORPHA:91387
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Agenesis of cerebe... OMIM:243910
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased seru... OMIM:604168
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Hypoplasia of mandible relative to maxill... ORPHA:33364
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Bulbous nose, Hydrocephalus, Cerebellar hypoplasia, Hyperintensity of cer... OMIM:618476
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly, Renal cyst OMIM:611561
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Quadriceps muscle weakness, Ragged-red ... ORPHA:254892
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal periventricular wh... OMIM:615838
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Hypospadias, Cryptorc... OMIM:616975
Shprintzen-Goldberg Syndrome
Inguinal hernia, Anteverted nares, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxil... ORPHA:2462
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Narrow nasal bridge, Cerebellar vermis hy... OMIM:619383
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Microcephaly, Stage 5 chronic kidney disease, Cerebral ... OMIM:619609
Recombinant 8 Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Mic... ORPHA:96167
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Wide nasal bri... OMIM:614376
Braddock-Carey Syndrome 2
Microphthalmia, Bulbous nose, Retrognathia, Thrombocytopenia OMIM:619981
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Atrial septal defect, Malar flattening, Short nose ORPHA:79113
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cr... ORPHA:1106
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Anteverted nares, Depressed nasal bridge, Microcephaly, Respiratory failure, Hypoplasia of... OMIM:617301
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Short palm, Short nose ORPHA:969
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Recurrent respiratory infections, Hydroureter, Ren... OMIM:129900
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Cerebral calcification, Protein... ORPHA:1855
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag... ORPHA:536545
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections... OMIM:614069
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Ketonuria, Apnea, Renal steatosis, Cerebral atrophy OMIM:261680
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Supernumerary to... ORPHA:627
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Ventricular septal defect, Narrow nasal tip, Prominent nasal bridge,... ORPHA:464306
Rin2 Syndrome
Umbilical hernia, Aortic aneurysm, Hypergonadotropic hypogonadism, Cryptorchidism ORPHA:217335
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Recurrent urinary tract infections, Hypospadias, Depressed nasal bridge, M... OMIM:619103
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Tarp Syndrome
Extramedullary hematopoiesis, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, ... ORPHA:2886
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Ring Chromosome 22 Syndrome
Absent septum pellucidum, Microcephaly, Bulbous nose, Wide nasal base, Pleural effusion, Agenesis... ORPHA:1446
Mucopolysaccharidosis Type 7
Inguinal hernia, Splenomegaly, Mucopolysacchariduria, Arteriovenous malformation, Umbilical hernia ORPHA:584
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Short ribs, Nephro... OMIM:615630
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Partial agenesis of the corpus callosum, Wide nasal bridge, Hypoplasia of teeth, Sh... OMIM:620250
Al-Raqad Syndrome
Atrial septal defect, Short nose OMIM:616459
Amme Complex
Inguinal hernia, Depressed nasal bridge, Diastasis recti, Hematuria, Elliptocytosis, Umbilical he... OMIM:300194
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, E... OMIM:614437
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Micrognathia ORPHA:75840
Martsolf Syndrome 1
Inguinal hernia, Short metacarpal, Depressed nasal bridge, Hypogonadotropic hypogonadism, Broad n... OMIM:212720
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:619909
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Renal cyst,... OMIM:617107
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Depressed nasal bridge, Carious teeth, ... OMIM:253200
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiom... ORPHA:116
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure, Caudate atrophy, Cerebral atrophy ORPHA:363400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Bicuspid aortic valve, Anteverted nares, Mitral atresia, Micrognathia... OMIM:220111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, A... OMIM:194050
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Abnormally large globe OMIM:611936
Alport Syndrome
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... ORPHA:63
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Micrognathia, Cryptorc... OMIM:247200
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Unilateral renal agenesis, Microcephaly, Bronchiectasis, Pyelonephri... ORPHA:90348
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Anteverted nares, Facial palsy, Micrognathia, Aplasia of the pectoralis ... ORPHA:1358
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Narrow nasal ridge, Cryptorchidism, Distal amyotrophy, Umbilical hernia OMIM:219150
Chung-Jansen Syndrome
Cryptorchidism, Short nose, Anteverted nares, Micrognathia OMIM:617991
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Primary amenorrhea, Secondar... OMIM:603896
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Depressed nasal bridge, Microcephaly ORPHA:261519
Toriello-Carey Syndrome
Neonatal respiratory distress, Micrognathia, Microcephaly, Partial agenesis of the corpus callosu... ORPHA:3338
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Chromosome 5P13 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Vesicoureteral reflux, Agenesis of corpus callosum, Low hanging ... OMIM:613174
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal... ORPHA:487796
Restrictive Dermopathy 2
Respiratory distress, Microretrognathia, Cyanosis, Intrauterine growth retardation, Convex nasal ... OMIM:619793
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Primary microcephaly OMIM:245570
2P15P16.1 Microdeletion Syndrome
Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly of finger, Prominent nasal bridge, F... ORPHA:261349
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test... OMIM:618223
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent superficial veins, Lipoatrophy, P... OMIM:601812
Pagod Syndrome
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Spina bifida, Congenital diaphragmatic ... ORPHA:991
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... OMIM:613095
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Microcephaly, Neonatal asphyxia, Recurrent pn... ORPHA:420741
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestio... OMIM:616037
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Oligosacchariduria, Hemiatrophy of upper ... ORPHA:163649
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... ORPHA:542323
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Microcephaly... OMIM:252160
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... ORPHA:2322
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Hypospadias, Microcephaly, Abnormally large globe, Agenesis of corpus callosum, Renal dysplasia OMIM:300004
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Depressed nasal bridge, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropeni... OMIM:614520
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose ORPHA:2429
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Constricting Bands, Congenital
Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis OMIM:217100
Weaver Syndrome
Mandibular prognathia, Inguinal hernia, Short fourth metatarsal, Depressed nasal bridge, Diastasi... OMIM:277590
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Myoglobinuria, Dicarb... OMIM:231530
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Chorea, Hyperkale... ORPHA:94093
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Hepatomegaly, Short femur, Short humerus, Hypospadias, Abnormal renal co... ORPHA:17
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia ORPHA:2345
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Atrial septal defect, Convex ... ORPHA:261190
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Aicardi Syndrome
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Spina bifida, Micro... OMIM:304050
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Ty... ORPHA:436252
Intellectual Developmental Disorder, Autosomal Dominant 22
Depressed nasal bridge, Micrognathia, Long nose, Microcephaly, Fetal pyelectasis, Intrauterine gr... OMIM:612337
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Ataxia, Exercise-induced myoglobinuria OMIM:300653
Schinzel-Giedion Syndrome
Micrognathia, Renal cyst, Choanal stenosis, Myeloid leukemia, Micropenis, Streak ovary, Hypospadi... ORPHA:798
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Microcephaly, Hydrocephalus, Patent... OMIM:227646
Arterial Tortuosity Syndrome
Inguinal hernia, Femoral hernia, Hiatus hernia, Myocarditis, Abnormal zygomatic bone morphology, ... ORPHA:3342
Paganini-Miozzo Syndrome
Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion border OMIM:301025
Lmna-Related Cardiocutaneous Progeria Syndrome
Papillary renal cell carcinoma, Premature graying of hair, Premature skin wrinkling, Emphysema, A... ORPHA:363618
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... OMIM:614732
Mercury Poisoning
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In... ORPHA:330021
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Panniculitis, Cellulitis, Atrial se... ORPHA:2526
Zygomycosis
Renal insufficiency, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acut... ORPHA:73263
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo... OMIM:256300
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Abnormal dental enamel morpholog... ORPHA:439822
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macrosc... ORPHA:251004
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Ataxia, Nephrotic syndrome, Focal segmental glomerulosclero... OMIM:607426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Death in infancy, Bilateral fetal pyelectasis, Anteverted nares, De... OMIM:300868
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum, Depressed nasal bridge, Wide nasal bridge, Hypoplasia of the corpus ... OMIM:607131
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Patent ductus arteriosus, Umbilical hernia, Aplasia/Hypoplasia of the ... ORPHA:2095
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Filippi Syndrome
Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Underdevelope... ORPHA:3255
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand monodactyly, ... OMIM:609945
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Microcephaly, Hemolytic-uremic syndrome, Cystathioninuria, Hydr... OMIM:277400
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Depressed nasal bridge,... OMIM:618346
Sarcoidosis
Renal insufficiency, Abnormal nasal mucosa morphology, Abnormal pleura morphology, Dyspnea, Abnor... ORPHA:797
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Patent ductus ar... OMIM:121050
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral refl... OMIM:118450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Microcephaly, Intrauterine growth retardation, Short nose OMIM:616910
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Micromelia, Micrognathia, Rhizomelia, Cryptorchidism, H... ORPHA:93329
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Warburg Micro Syndrome 3
Decreased muscle mass, Micrognathia, Flexion contracture, Micropenis, Microphthalmia, Short nose,... OMIM:614222
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Prominent scalp veins, Hypospadias, Choanal atresia, Cutis marmorata, Micr... OMIM:151050
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis, Short distal phalanx of finger, Microgna... OMIM:181180
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Microcephaly, Bul... OMIM:619312
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Atrial septal defect, Patent ductus arteriosus OMIM:609625
Raine Syndrome
Mandibular prognathia, Natal tooth, Death in infancy, Hydroureter, Depressed nasal bridge, Choana... OMIM:259775
Adams-Oliver Syndrome
Encephalocele, Cutis marmorata, Hydrocephalus, Porencephalic cyst, Microphthalmia, Pulmonary arte... ORPHA:974
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Hypospadias, Choanal atresia, Prominent nose, Micro... OMIM:305450
Cach Syndrome
Cerebellar atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atr... ORPHA:135
Meester-Loeys Syndrome
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... OMIM:300989
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Microcephaly, Cerebral atrophy, Progressive mi... OMIM:617802
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Microretrognathia, Inguinal hernia, Contracture of the proximal interphala... OMIM:300998
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephrotic syndrome,... ORPHA:330001
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Nephronophthisis, Hepatomegaly,... OMIM:266920
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
3Q29 Microduplication Syndrome
Ventricular septal defect, Wide nasal bridge, Aniridia, Camptodactyly of toe, Microphthalmia ORPHA:251038
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Boomerang Dysplasia
Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... ORPHA:86822
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy OMIM:618321
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Anteverted nares, Depressed nasal bridge, Micrognathia, ... ORPHA:97297
Osteootohepatoenteric Syndrome
Proteinuria, Asthma, Hydrocephalus, Grade II vesicoureteral reflux, Prolonged neonatal jaundice OMIM:619377
Menkes Disease
Inguinal hernia, Micrognathia, Venous insufficiency, Vascular dilatation, Aplasia/Hypoplasia of t... ORPHA:565
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... OMIM:613038
Marfan Syndrome
Pulmonary artery dilatation, Reduced subcutaneous adipose tissue, Micrognathia, Pneumothorax, Inc... OMIM:154700
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Recurrent pneumonia, Agenesis ... OMIM:300472
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Prominent nasal bridge, Anteve... OMIM:615485
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Depressed nasal bridge, Micrognathi... OMIM:620005
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... OMIM:614294
Renpenning Syndrome 1
Mandibular prognathia, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus total... OMIM:309500
X-Linked Dominant Chondrodysplasia Punctata
Depressed nasal bridge, Scarring alopecia of scalp, Flexion contracture, Hydronephrosis, Micropht... ORPHA:35173
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ret... ORPHA:52055
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Thrombocytopenia, Pancreatic ... ORPHA:464329
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Atrial septal defect, Pelvic kidney, Antever... OMIM:619522
Neurooculorenal Syndrome
Hypoplasia of the bladder, Cerebellar vermis hypoplasia, Unilateral renal agenesis, Micrognathia,... OMIM:620305
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Facial hypotonia, Cryptorchidism, Macrodontia of permanent maxillary centr... ORPHA:364028
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Promin... ORPHA:2995
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Hypoplasia of the brainstem, Progressi... ORPHA:481152
Schimke Immuno-Osseous Dysplasia
Proteinuria, Depressed nasal bridge, Minimal change glomerulonephritis, Broad nasal tip, Abnormal... ORPHA:1830
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Facial palsy, Micrognathia, Short nose OMIM:614744
Acrocallosal Syndrome
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hypospadias, Abnormal pulmonary valve ... OMIM:200990
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Choanal atresia,... ORPHA:1896
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Short fi... ORPHA:1934
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Fibrochondrogenesis 1
Omphalocele, Short palm, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Rhizomel... OMIM:228520
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Depressed nasal bridge, Microcephaly, Bulbous nose, Short nose, Agenesis o... ORPHA:261144
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
X-Linked Intellectual Disability, Wilson Type
Wide mouth, Lateral ventricle dilatation, Thick vermilion border ORPHA:85290
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Pelvic kidney, Microcephaly OMIM:617244
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypospadias, Supernumerary nipple, Hypoplasia of the maxilla, Patent d... OMIM:106260
Encephalopathy, Ethylmalonic
Death in infancy, Ethylmalonic aciduria, Focal T2 hyperintense basal ganglia lesion, Acrocyanosis... OMIM:602473
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Decreased circulat... OMIM:241410
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Intermittent hyperventilation, Optic nerve hypoplasia, Prominent nasal ... OMIM:300749
Joubert Syndrome 16
Encephalocele, Renal cyst, Nephronophthisis OMIM:614465
Atelis Syndrome 2
Prominent nose, Micrognathia, Thrombocytopenia, Bulbous nose, Elevated circulating thyroid-stimul... OMIM:620185
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Microcephaly, Hydrocephalus, Diffuse white matter abnormalities, Cerebral atrophy, ... OMIM:259720
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Respiratory failure, Anteverted nares, Basal ganglia calcification OMIM:616505
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Diastasis recti, Scarring, Hiatus hernia, Cryptorchidism, Mitral valve prolaps... OMIM:601776
Smith-Magenis Syndrome
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Delayed eruption of primary teet... ORPHA:819
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Cryptorchidism, Long penis, Hypoplasia of the thymus, Increased serum testosterone l... OMIM:264090
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Camptobrachydactyly
Septate vagina ORPHA:1319
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Waardenburg Syndrome Type 1
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, P... ORPHA:894
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Wrist flexion contracture, Supernumerary tooth... ORPHA:800
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa... OMIM:145001
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Urinary incontinence, Mic... ORPHA:496641
Kniest Dysplasia
Hip contracture, Inguinal hernia, Depressed nasal bridge, Rhizomelia, Umbilical hernia, Malar fla... OMIM:156550
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic he... OMIM:611812
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... ORPHA:306542
Nizon-Isidor Syndrome
Anteverted nares, Hypospadias, Prominent nasal bridge, Depressed nasal bridge, Bulbous nose, Hypo... OMIM:618872
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Abnorm... ORPHA:261197
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypoplasia, Broad nasal tip, Underd... ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Optic nerve hypoplasia, Broad nasal tip, Underd... ORPHA:453504
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Cardiac rhabdomyoma, Renal cyst, Pulmonary lymphangiomyom... OMIM:191100
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Underdeveloped nasal alae, Carious tee... OMIM:164200
Acrodysostosis
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Antev... ORPHA:950
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Depressed nasal bridge, ... ORPHA:397715
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly OMIM:245349
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Jaundice, Respiratory i... OMIM:607625
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Micrognathia, Cario... OMIM:117650
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Chorde... OMIM:309801
Frontorhiny
Encephalocele, Pericallosal lipoma, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus c... ORPHA:391474
Liver Disease, Severe Congenital
Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial... OMIM:619991
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent nose, Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphology... OMIM:614407
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Microcephaly, Respiratory failure, Intrauterine growth retardation, Polymicrogyria OMIM:610678
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Macrocephaly-Intellectual Disability-Autism Syndrome
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid... ORPHA:210548
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Renal cyst, Multiple lipomas, Renal cell carcinoma OMIM:135150
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Wide nasal bridge, Micrognathia ORPHA:2774
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... ORPHA:805
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Atrial septal defect, Spina bifida occulta, Depr... OMIM:135900
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Mandibular prognathia, Lipoatrophy, Umbilical hernia, Short ... ORPHA:2963
Pauci-Immune Glomerulonephritis
Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Dysp... ORPHA:93126
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Dicarboxylic aciduria, Sudden episodic apnea, Microcephaly, Oliguria, Respiratory insuf... ORPHA:159
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Optic nerve hypoplasia, Unilateral renal agenesis, Olivopontocerebellar hypopla... ORPHA:457284
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular s... OMIM:300373
Fg Syndrome 5
Depressed nasal bridge, Hypospadias, Anteverted nares, Short nose OMIM:300581
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Nasal... ORPHA:137914
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Supernumerary nipple, Cryptorchidism, Arteria lusoria, Vesicoureteral reflux, Hy... OMIM:618653
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Depressed nasal bridge, Dyspnea, Bulbous nose, Stage 5 chronic ... OMIM:242900
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency, Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defe... OMIM:274000
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Carious teeth, Dental malocclusion, Wide nasal bridge, Renal... OMIM:615560
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Micropenis, Hydronephrosis OMIM:617798
Carpenter Syndrome 2
Bilateral cryptorchidism, Knee flexion contracture, Atrial septal defect, Diaphragmatic eventrati... OMIM:614976
Peho Syndrome
Recurrent respiratory infections, Anteverted nares, Microcephaly, Hydrocephalus, Porencephalic cy... ORPHA:2836
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Depressed nasal bridge, Hypergonadotropic hypogonadism, Proteinuria, ... OMIM:212065
Camptobrachydactyly
Septate vagina OMIM:114150
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... ORPHA:340
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Renal cyst, Short palm, Multicystic kidney dysplasia, Depres... OMIM:614527
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism OMIM:619908
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Camptodactyly, Atrial septal defect OMIM:301039
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Warburg Micro Syndrome 4
Decreased muscle mass, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Flexion contract... OMIM:615663
Ruvalcaba Syndrome
Short metacarpal, Inguinal hernia, Micromelia, Cryptorchidism, Small hand, Abnormal localization ... ORPHA:3121
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Schneckenbecken Dysplasia
Hypoplastic scapulae, Short ribs, Limb undergrowth, Umbilical hernia, Short nose, Malar flattening OMIM:269250
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Ritscher-Schinzel Syndrome 4
Wide nasal bridge, Mild fetal ventriculomegaly, Cerebellar hypoplasia, Micropenis, Agenesis of co... OMIM:619435
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:3455
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Wide nasa... OMIM:617452
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... OMIM:618774
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... OMIM:263200
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hyposmia, Micropenis, Agenesis of corpus callosum OMIM:147950
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Micrognathia, Splenomegaly, Bulbous nose, Dental malocc... OMIM:115150
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Micrognathia ORPHA:2001
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Inguinal hernia, Redundant umbilical skin, Patent ductus arteriosus, Aor... OMIM:614557
Cockayne Syndrome A
Mandibular prognathia, Prominent nose, Basal ganglia calcification, Micropenis, Prematurely aged ... OMIM:216400
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
Xfe Progeroid Syndrome
Renal insufficiency, Proteinuria, Prematurely aged appearance, Microcephaly, Death in adolescence... OMIM:610965
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar... ORPHA:99106
Chromosome 17P13.1 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Spina bifida, Bulbous nose, Elb... OMIM:613776
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Anteverted nares, Depressed nasal bridge, Micrognathia, Petechiae, M... OMIM:608013
Ethylene Glycol Poisoning
Renal insufficiency, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory d... ORPHA:31826
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Patent ductus arteriosus, Choanal stenosis, Atrial septal defect, Short nose, M... ORPHA:1790
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Short toe, Wide nasal bridge, Short foot, Limb undergrowth, Short... OMIM:614078
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Jaundice, Hematuria, Increased circulating lactate dehydrogenase ... OMIM:232800
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cavum septum... OMIM:619074
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
46,Xy Sex Reversal 4
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent nose, ... OMIM:154230
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Hypospadias, Broad nasal tip, Short nose OMIM:619736
Ddost-Cdg
Elevated hepatic transaminase, Nephrotic range proteinuria ORPHA:300536
Hunter-Macdonald Syndrome
Inguinal hernia, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve prola... OMIM:611962
Monosomy 13Q34
Epistaxis, Prominent nasal bridge, Broad nasal tip, Prominent nose, Micrognathia, Fetal pyelectas... ORPHA:96168
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Microcephaly, Partial anomalous pulmonary venous return, Hypop... OMIM:301044
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Anteverted nares, Micrognathia, Wide nasal bridge, Abnormal heart morphology, Um... OMIM:617062
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia OMIM:617662
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio... OMIM:308940
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermitten... ORPHA:98914
Congenital Myasthenic Syndrome
Microretrognathia, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermitten... ORPHA:590
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Gingival overgrowth, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short palm, Micropenis, Renal duplication, Depressed nasal bridge, Anteverted nares... OMIM:180700
Gm1 Gangliosidosis
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Camptodactyly of finger, Ventricu... ORPHA:354
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Vaginal atresia OMIM:617088
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Pul... OMIM:300963
Tolchin-Le Caignec Syndrome
Diastasis recti, Prominent nose, Micrognathia, Precocious puberty, Wide nasal bridge, Cardiac rha... OMIM:618971
Cystic Echinococcosis
Hepatomegaly, Eosinophilia, Abnormality of the testis size, Renal cyst, Abnormal heart morphology... ORPHA:400
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Mosaic Trisomy 8
Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Micrognathia, Cryptorchidi... ORPHA:96061
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Proteinuria, Pneumonia, Focal hypointensity of cerebral white matter on M... ORPHA:247691
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/ap... ORPHA:568
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hyp... OMIM:269150
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... OMIM:609942
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Venous insufficiency, Splenomegaly, ... ORPHA:2969
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Septooptic Dysplasia
Agenesis of corpus callosum, Absent septum pellucidum, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Red-brown urine, Reduced carnitine O-palmitoyltransferase level, M... ORPHA:228305
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Microph... OMIM:167730
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Macroglossia, T lymphocytopeni... OMIM:242860
Coffin-Siris Syndrome 7
Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Ventricular septal de... OMIM:618027
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder ... OMIM:193700
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Crypto... OMIM:605275
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Dental malocclusion, Ovarian... OMIM:617883
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Anteverted nares, Partial agenesis of the corpus callosum, Aplasia/... OMIM:616819
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Tracheomalacia, Aqueductal stenosi... ORPHA:93260
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple OMIM:617635
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Dorsocervical fat pad, Micrognathia, Microcephaly, Hypoplasia of tee... ORPHA:391408
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Craniofacial hyperostosis, Cardiomegaly, Adenoiditis, Splenomegaly... ORPHA:581
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Nonproductive cough, Dyspnea, Renal ... ORPHA:85443
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts, Missing ribs ORPHA:66637
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Micropenis OMIM:602361
Frontometaphyseal Dysplasia
Short metacarpal, Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Sho... ORPHA:1826
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Prominent nose, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... OMIM:604804
Wilson Disease
Acute hepatic failure, Hyperphosphaturia, Proteinuria, Elevated circulating aspartate aminotransf... OMIM:277900
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Umbilical hernia, Dentinogenesis imperfecta, Enuresis nocturna OMIM:614856
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... ORPHA:2438
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bifid nasal tip, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, M... OMIM:618874
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Depressed nasal bridge, Renal cyst OMIM:614862
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia, Lymphangiectasis OMIM:602579
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... OMIM:251270
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Neutro... ORPHA:124
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Thin upper lip vermilion, Dilated fourth ventricle, Cerebellar vermis hypopla... ORPHA:572798
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Narrow nasal ridge, Micrognathia, Aqueductal stenosis, Hypoplasia of the p... OMIM:619512
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Microcephaly, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Hypoplastic na... ORPHA:3304
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Myoglob... OMIM:620138
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia, Cryptorchidism OMIM:601349
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Short nose, Low hanging columella OMIM:617752
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Microcephaly OMIM:150260
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Abnormally large globe, Underdeveloped nasal ala... OMIM:614098
Curry-Jones Syndrome
Microphthalmia, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1553
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypo... OMIM:619841
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency, Ataxia ORPHA:713
9P13 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Precocious puberty, Wide nasal bridge, Umbilical hernia ORPHA:324313
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Depressed nasal bridge, Microcephaly, Cer... OMIM:615802
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Yuan-Harel-Lupski Syndrome
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Double outlet ... OMIM:616652
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome... OMIM:161200
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Dicarboxylic aciduria, Microcephaly, Exercise-induced myoglobinuria, Tachypnea,... OMIM:201475
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... ORPHA:85450
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... ORPHA:2704
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Absent gallbladder, Depressed nasal bridge, Micrognathia, Complete atrioventricular ... OMIM:617925
Acrofacial Dysostosis, Catania Type
Microretrognathia, Hypospadias, Microcephaly, Carious teeth, Hypoplasia of the zygomatic bone, In... ORPHA:1786
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Prominent nasal bridge, Bulbous nose, Partial agenesis of the corpus callosum, Hypop... OMIM:618109
Osteogenesis Imperfecta
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Flexion contracture, R... ORPHA:666
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Dyspnea, Hematuria, Nephrotic syndrome, Abnormality... ORPHA:93552
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter, Depressed nasal bridge, Bicuspid aortic valve, Anteverted nares, Prominent nasal bri... OMIM:610759
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Wide nose, Ventricular septal defect, Prominent nasal bridge, Microgna... ORPHA:251028
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Primary microcephaly, Agenesis of c... ORPHA:466688
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Cohen Syndrome
Ventricular septal defect, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Crypt... ORPHA:193
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal lun... ORPHA:439232
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Ventricular septal defect, Optic nerve hypoplasia, Broad nasal tip, Wide n... OMIM:620330
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:85277
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ... ORPHA:98905
Cryoglobulinemic Vasculitis
Viral hepatitis, Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria ORPHA:91138
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, Microphthalmia OMIM:615877
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Depressed ... ORPHA:99843
Degcags Syndrome
Prominent nose, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atr... OMIM:619488
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Death in infancy, Cyanosis, Apnea, Hypospadias, Microcephaly, Lac... OMIM:252010
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... OMIM:615849
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Facial hypotonia, Ventricul... OMIM:613458
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcyti... ORPHA:906
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis OMIM:278300
Metatropic Dysplasia
Respiratory failure, Depressed nasal bridge, Respiratory insufficiency OMIM:156530
Boutonneuse Fever
Renal insufficiency, Petechiae, Respiratory failure ORPHA:83313
Macrocephaly/Autism Syndrome
Hepatomegaly, Dilation of Virchow-Robin spaces, Depressed nasal bridge, Penile freckling, Splenom... OMIM:605309
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, ... ORPHA:3107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Chronic neu... ORPHA:500095
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
15q26 overgrowth syndrome
Mandibular prognathia, Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Promin... DECIPHER:81
Bartsocas-Papas Syndrome 1
Omphalocele, Inguinal hernia, Short metacarpal, Hypoplastic scapulae, Underdeveloped nasal alae, ... OMIM:263650
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Craniofrontonasal Syndrome
Hypospadias, Congenital diaphragmatic hernia, Congenital pseudoarthrosis of the clavicle, Bifid n... OMIM:304110
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion, Enlarged kidney, Pulmonar... OMIM:261740
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Short humerus, Renal malrotation, Optic disc hypoplasia, Short hallux, Re... ORPHA:959
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Long nose, Underdeveloped nasal alae, Hypoplasia of the ... OMIM:257850
Branchiooculofacial Syndrome
Anophthalmia, Depressed nasal bridge, Facial palsy, Malar flattening, Broad nasal tip, Micrognath... OMIM:113620
Short Stature-Micrognathia Syndrome
Rhizomelia, Ventricular septal defect, Micrognathia, Cryptorchidism, Skeletal muscle hypertrophy,... OMIM:617164
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Leukoencephalopathy OMIM:618233
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Ventriculomegaly OMIM:620166
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory... OMIM:614748
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Umbilical hernia, Facial hypotonia, Diastasis recti, Supernumerary nipple OMIM:616579
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Bone marrow hypocellularity OMIM:609054
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Choanal atresia, Hy... OMIM:107480
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Hypoplasia of the corpus c... OMIM:614753
Holt-Oram Syndrome
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... OMIM:142900
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cryptorchidism... ORPHA:251014
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:177907
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Cerebral white matter atrophy, Micrognath... ORPHA:329178
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Wide nasal bridge, Micrognathia OMIM:617952
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Cryptorchidism, Hypert... ORPHA:1340
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Neutrope... OMIM:105650
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Ventricular septal defect, Hypospadias, Micrognathia, Splenomegaly, Cryptorchidism,... OMIM:614866
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Hypospadias, Congenital diaphragmatic hernia, Weakn... OMIM:265000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ... ORPHA:457279
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Wide nose, Limb joint contracture, Ventricular septal defect, Prominent nasal bridge, Cryptorchid... ORPHA:505237
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth,... OMIM:244450
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Hypoplasia of the pons, Respiratory failure, Cerebellar hypoplasia, Hypoplasia of t... ORPHA:88618
Chromosome 8Q21.11 Deletion Syndrome
Lozenge-shaped umbilicus, Short metacarpal, Underdeveloped nasal alae, Micrognathia, Cryptorchidi... OMIM:614230
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hydroc... OMIM:101600
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:619685
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Agenesis of corpus callosum, Hypoplasia of the corpus callosu... OMIM:616239
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Respiratory failure, Respiratory insufficiency OMIM:609015
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus ar... OMIM:600460
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter... OMIM:301030
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Hypospadias, Supernumerary nipple, Underdeveloped nasal alae, Cryptorc... ORPHA:217346
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Short nose, Inspiratory stridor OMIM:618618
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Natal tooth, Prominent nasal bridge, Spina bifida, Micrognathia... OMIM:234100
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Ischemic stroke, Pulmon... ORPHA:2038
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Prolonged neonatal jaundice, Microscopic hematu... OMIM:274150
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Underdeve... ORPHA:447980
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum, Short distal phala... OMIM:302950
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Joubert Syndrome 7
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal ... OMIM:617913
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Prematur... ORPHA:813
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Crossed fused renal ectopia, Abnormal dental enamel morphology, Micromeli... ORPHA:3258
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Microcephaly, Cerebral atrophy, Progressive microcephaly, Secondary micr... OMIM:615851
Fg Syndrome 3
Death in infancy, Agenesis of corpus callosum OMIM:300406
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Renal agenesis, Broad nasal tip, Micrognathia, Porencephalic cyst, ... OMIM:277170
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Choanal atresia, Optic nerve hypoplasia, Bilateral microphthalmos, Depressed nasal ridge, Ethmoid... OMIM:607597
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Epistaxis, Recurr... ORPHA:900
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Renal insufficiency, Proteinuria, Prominent nasal bridge, Hypoplasia of the ma... ORPHA:1307
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Cryptorchidism, Hypoplasia of the zygo... ORPHA:1555
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Renal malrotation, Depressed nasal bridge, Anteverted nares, Decreased... OMIM:615866
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... ORPHA:3472
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... OMIM:615582
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Ethylmalonic aciduria, Petechiae ORPHA:51188
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal heart morphology, Short nose ORPHA:314655
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas... OMIM:608670
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ... ORPHA:90051
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Hypothyroidism... ORPHA:1606
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, Microcephaly, Dyspnea, Respiratory failure, Retrognathia ORPHA:2707
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Megalencephaly, Microcephaly, Hydrocephalus, Wide nasal... OMIM:613603
Cog5-Cdg
Cerebellar atrophy, Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, High palate ORPHA:263487
Cystinosis, Nephropathic
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia, Proteinur... OMIM:219800
X Small Rings
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Fetal pyelectasis, Upper limb... ORPHA:96201
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Ano... ORPHA:3157
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microphthalmia OMIM:152950
Cleft Lip And Alveolus
Abnormal nasal morphology, Abnormal nasal septum morphology, Hypodontia, Lip pit ORPHA:141291
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Otopalatodigital Syndrome, Type Ii
Omphalocele, Short metacarpal, Depressed nasal bridge, Elbow contracture, Spina bifida, Micrognat... OMIM:304120
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Depressed nasal bridge, Pro... ORPHA:647
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia OMIM:615085
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Micrognathia, Mesomelia, Camptodactyly, Hydranencephaly, Microp... OMIM:260660
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Pulmonic stenosis, Camptodacty... OMIM:619123
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Spina bifida occulta, Short nose ORPHA:2983
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Desmoid Tumor
Abnormality of the abdominal wall, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Multiple renal cysts, A... ORPHA:1318
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Trisomy 10P
Absent gallbladder, Decreased muscle mass, Depressed nasal bridge, Anteverted nares, Abnormality ... ORPHA:171929
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Sotos Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Vesicoureteral reflux... ORPHA:821
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Prominent nose, Long nose... ORPHA:3047
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Arboleda-Tham Syndrome
Microretrognathia, Prominent umbilicus, Mandibular prognathia, Recurrent urinary tract infections... OMIM:616268
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... ORPHA:141127
Ring Chromosome 13 Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Anencephaly, W... ORPHA:96176
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral atrophy, Hypoplasi... OMIM:616420
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Umbilical hernia, Inguinal hernia, Nemaline bodies, Elbow contracture OMIM:620275
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal de... ORPHA:476126
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute kidney injury ORPHA:423
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Micrognathia, Myelomeningo... ORPHA:1393
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility ORPHA:3226
Breath-Holding Spells
Cyanosis OMIM:607578
Myhre Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Pericardial effusion, H... OMIM:139210
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Short ribs, Malar flattening, Short nose OMIM:614524
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia of the proximal phalanges of the hand, Atrial septal def... ORPHA:2369
Dermotrichic Syndrome
Aminoaciduria, Depressed nasal bridge, Short nose ORPHA:99688
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Meckel Syndrome, Type 10
Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Camptodactyly, Micropenis OMIM:614175
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Ventricular ... OMIM:606170
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Multiple Synostoses Syndrome 1
Thin upper lip vermilion, Asymmetry of the mouth, Underdeveloped nasal alae, Wide nasal bridge, H... OMIM:186500
Warburg Micro Syndrome 2
Prominent nasal bridge, Cryptorchidism, Flexion contracture, Micropenis, Microphthalmia, Short nose OMIM:614225
Frank-Ter Haar Syndrome
Short palm, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad nasal tip,... OMIM:249420
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridg... ORPHA:110
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, ... OMIM:619479
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria, Elevated circulating alanine aminotransferase concentrati... OMIM:620300
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureteroc... ORPHA:79404
Bloom Syndrome
Recurrent urinary tract infections, Pneumonia, Bronchitis, Micrognathia, Respiratory tract infect... ORPHA:125
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia ORPHA:2181
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... ORPHA:93259
Majeed Syndrome
Glomerulopathy, Proteinuria, Pulmonary infiltrates, Cough, Microscopic hematuria ORPHA:77297
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Coffin-Siris Syndrome 4
Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe... OMIM:614609
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Micrognathia, Hydrocephalus, Renal hypoplasia, Wide nasal bridge, Depr... OMIM:614083
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Anteverted nares, Ventricular septal defect, Hypospadias, Precocious puberty... ORPHA:254346
Classical Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of the temporomandibular joint, Arterial dissection, Hiatus hernia, ... ORPHA:287
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Ventricular se... OMIM:147920
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Hydrocephalus, Cerebral atrophy,... OMIM:618590
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Vexas Syndrome
Nasal chondritis, Chondritis of pinna OMIM:301054
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic aciduria, Secondary microcepha... OMIM:618329
Costello Syndrome
Renal insufficiency, Anteverted nares, Depressed nasal bridge, Micrognathia, Hydrocephalus, Pneum... OMIM:218040
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Abnormality of canine, Wide nasal b... ORPHA:477993
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Wide nasal bridge, Atypical scarri... ORPHA:1297
Melas
Proteinuria, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calcification, Erythe... ORPHA:550
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Prominent nasal bridge, Supernumerary nipple, Micrognathia, Bulbous nose, ... ORPHA:247262
Aymé-Gripp Syndrome
Depressed nasal bridge, Proteinuria, Hydrocephalus, Patent ductus arteriosus, Hypoplasia of the c... ORPHA:1272
Semilobar Holoprosencephaly
Central apnea, Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Neura... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Neura... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Neura... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Neura... ORPHA:93924
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up... ORPHA:51636
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... OMIM:100300
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Thenar mus... OMIM:612394
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the zygomatic bone, Ab... ORPHA:1295
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia, Absent thumb, Underdevelope... ORPHA:1234
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Wide nose, Anteverted nares, Micrognathi... ORPHA:109
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Congenital Myopathy 17
Mandibular prognathia, Dental malocclusion, Narrow jaw, Renal hypoplasia, Myopathy, Distal arthro... OMIM:618975
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Optic disc hypoplasia, Ventricular septal defect, Flexion contracture, Wide nas... OMIM:619306
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Prominent nasal bridge, Congenital di... OMIM:154400
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Joubert Syndrome 20
Renal cyst OMIM:614970
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypospadias, Anteverted nares, Micrognathia, Microcephaly, Pate... ORPHA:2282
Fanconi Anemia, Complementation Group N
Short thumb, Aplastic anemia, Ventricular septal defect, Nephroblastoma OMIM:610832
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Microcephaly, Thin corpus callosum, Ventriculomegaly OMIM:619580
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Congenital diaphragmatic hernia, Micromelia, Aplastic clavicle, Anencepha... OMIM:616546
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Bilate... OMIM:619234
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Hy... ORPHA:402075
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Prominent superficial veins, Hiatus hernia, Atrophic scars, Umbilical hernia OMIM:130080
Lathosterolosis
Hypoplasia of penis, Cerebral calcification, Anteverted nares, Micrognathia, Microcephaly, Bulbou... ORPHA:46059
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Decreased circulating T4 con... ORPHA:90674
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Inguinal hernia, Short metacarpal, Anteverted nares, Cryptorchidism, Bulbous... OMIM:601358
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... OMIM:619859
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Inguinal hernia, Anteverted nares, Decreased response to growth hormone stimulation te... OMIM:213980
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Renal insufficiency, Death in infancy, Proteinuria, Jaundice, C... OMIM:208500
Microcephaly 13, Primary, Autosomal Recessive
Prominent nose, Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... OMIM:616051
Frontonasal Dysplasia 3
Microphthalmia, Wide nasal bridge, Underdeveloped nasal alae OMIM:613456
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Short phi... OMIM:617296
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Tachypnea, Lacticaciduria, Periventricular cysts, Increased caudat... ORPHA:3008
X-Linked Intellectual Disability, Nascimento Type
Depressed nasal bridge, Ventricular septal defect, Hypospadias, Underdeveloped nasal alae, Crypto... ORPHA:163956
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Depressed nasal bridge, Supernumerary nipple, Bulbous nose, Wide nasal bridge, Joint contracture ... OMIM:620098
Melnick-Needles Syndrome
Omphalocele, Obtuse angle of mandible, Delayed eruption of teeth, Short humerus, Hypoplastic scap... OMIM:309350
Epidermal Nevus Syndrome
Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Lipoma, ... ORPHA:35125
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr... ORPHA:289266
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist ... OMIM:268300
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Open mouth ORPHA:565624
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Cerebellar atrophy, Prominent nasal bridge, Prominent nose, Wide mouth, Thick vermilion border, T... OMIM:619576
8Q21.11 Microdeletion Syndrome
Wide nose, Hypoplasia of penis, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia,... ORPHA:284160
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Short metacarpal, Lymphopenia, Depressed nasal bridge, Anteverted nares, Micrognath... ORPHA:508533
Peho Syndrome
Retrognathia, Hypoplasia of the corpus callosum, Short nose, Pachygyria, Polymicrogyria, Progress... OMIM:260565
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Cardiac rhabdomyoma, Renal... OMIM:613254
Axial Osteomalacia
Myopathy, Renal cyst OMIM:109130
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic... ORPHA:2396
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Macroorchidism OMIM:300143
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... OMIM:166250
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Short colume... OMIM:619775
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta, Hydronephrosis OMIM:618060
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, Cerebral atr... OMIM:616430
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Micrognathia, Short toe, Atrophic scars, Recurrent mandibular subluxations, Limb... OMIM:225410
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia, Flexion co... ORPHA:536471
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ventricular septal defect, Anteverted nares, Splenomegaly, Leukocytosis, Calf muscl... OMIM:615673
20Q11.2 Microduplication Syndrome
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Mic... ORPHA:363659
Chand Syndrome
Atelectasis, Depressed nasal bridge, Hydroureter, Agenesis of maxillary incisor ORPHA:1401
Acromesomelic Dysplasia 4
Mandibular prognathia, Short metacarpal, Rhizomelia, Short toe, Short metatarsal, Wide nasal brid... OMIM:619636
Duplication Of The Pituitary Gland
Encephalocele, Microcephaly, Supernumerary tooth, Hypoplasia of olfactory tract, Retrognathia, Ag... ORPHA:314621
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Depressed nasal ridge, H... ORPHA:95494
Poikiloderma With Neutropenia
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Splenomegaly, Carious teeth, Leu... OMIM:604173
Myoclonic-Astatic Epilepsy
Anteverted nares, Microcephaly, Wide nasal bridge, Microphthalmia, Premature skin wrinkling, Thic... ORPHA:1942
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Concave nasal ridge, Hemiatrophy, Microphthalmia, Malar flattening, Hydronephrosis OMIM:302960
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Dyspnea, Chronic ... ORPHA:1018
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Gait ataxia, Nephrotic syndrome, Focal segmenta... OMIM:254900
Alexander Disease
Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Respiratory insuffici... ORPHA:58
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Noonan Syndrome 14
Prominent nasal bridge, High, narrow palate, Wide mouth, Lateral ventricle dilatation, Prominent ... OMIM:619745
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Respiratory tract infection, Chro... ORPHA:567546
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Diamond-Blackfan Anemia 8
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose OMIM:612563
Weill-Marchesani Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... OMIM:277600
Costello Syndrome
Depressed nasal bridge, Ventricular septal defect, Abnormal dental enamel morphology, Cryptorchid... ORPHA:3071
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Ohdo Syndrome, X-Linked
Inguinal hernia, Depressed nasal bridge, Hiatus hernia, Prominent nose, Micrognathia, Bulbous nos... OMIM:300895
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Narrow nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Short... ORPHA:544503
Systemic Sclerosis
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Nail bed telangi... ORPHA:90291
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... OMIM:618426
Geleophysic Dysplasia 3
Anteverted nares, Pneumonia, Depressed nasal bridge, Dyspnea, Bulbous nose, Wide nasal bridge, Re... OMIM:617809
Spinocerebellar Ataxia-Dysmorphism Syndrome
Aplasia/Hypoplasia of the cerebellum, Short nose, Spina bifida occulta, Anteverted nares ORPHA:1185
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... ORPHA:411709
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infec... ORPHA:2399
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Ulnar-Mammary Syndrome
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Aplasia ... ORPHA:3138
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ridge, Micrope... OMIM:156200
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Micromelia, Nephronophthisis, Mesomelia, Polycystic ... OMIM:184260
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Multiple pulmonary cysts, Depressed nasal bridge, Microcephaly, Wide nasal bri... OMIM:619418
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Anteverted nares, Absent septum pellucidum, Epispadias, A... ORPHA:3339
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Micromelia, Polysplenia, Short nose, Cystic renal... OMIM:200995
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... OMIM:619268
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertensi... ORPHA:49041
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrha... ORPHA:90068
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Flexion contracture, Atr... ORPHA:158684
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, High, narrow palate, Hydrocephalus, Chiari type I malformation, Lateral v... OMIM:619575
Peters-Plus Syndrome
Ureteral duplication, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Short metata... OMIM:261540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine ... ORPHA:438213
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge ORPHA:2835
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Hypospadias, Micromelia, Renal hypoplasia, Renal cyst, Short ribs, Polycyst... OMIM:614091
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger ORPHA:2021
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Reduced vital capacity, Exercise-induced myoglobinuria ORPHA:352479
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... OMIM:615102
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose ORPHA:1389
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Abnormal dental enamel morphology... ORPHA:2750
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Anteverted nares, Ventricular septal defect, Decreased response to growth hormone stimulation tes... ORPHA:444077
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Mandibular prognathia, Hypospadias, Abnormal dental enamel morphology,... ORPHA:2658
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Renal agenesis, Choanal atresia... ORPHA:1199
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Pancreatic adenocarcinoma, Abnormality of the nose, Enlarg... ORPHA:2869
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated hepatic transaminase, Hematuria, Proteinuria OMIM:192315
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Multiple renal cysts, Reduced renal corticomedullary differentiation, Aspir... OMIM:618733
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Anteverted nares, Depressed nasal bridge, Super... ORPHA:86818
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Micropenis, Depressed nasal bridge OMIM:618929
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Ablepharon Macrostomia Syndrome
Omphalocele, Hypoplasia of penis, Depressed nasal bridge, Anteverted nares, Camptodactyly of fing... ORPHA:920
Trichothiodystrophy 1, Photosensitive
Death in infancy, Microcephaly, Asthma, Telangiectasia, Cutaneous photosensitivity, Microphthalmi... OMIM:601675
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Monosomy 9P
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Choanal atresia, Microcephal... ORPHA:261112
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... OMIM:300912
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Pancytopenia, Recurrent urinary tract infections, Facial hypotonia, Depres... ORPHA:309282
Alveolar Echinococcosis
Abnormal pericardium morphology, Eosinophilia, Hepatic cysts, Pancreatic cysts, Abnormal bladder ... ORPHA:284
Codas Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Enamel hypoplasia, Atrioventricular... OMIM:600373
Antley-Bixler Syndrome
Anteverted nares, Camptodactyly of finger, Choanal atresia, Abnormal renal morphology, Hypoplasia... ORPHA:83
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism ORPHA:1237
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Aplastic clavicle, Micro... ORPHA:50945
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... ORPHA:33001
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental enamel morphology, Camptodactyly of finger, Supernumer... ORPHA:464
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Anteverted nares, Abno... ORPHA:847
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Renal malrotation, Facial palsy, Unilateral renal agenesis, Re... OMIM:113650
Gaucher Disease Type 1
Proteinuria, Abnormal pulmonary interstitial morphology, Hematuria, Pulmonary arterial hypertensi... ORPHA:77259
Mowat-Wilson Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl... OMIM:235730
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous nose, Absent nas... ORPHA:261211
Pontocerebellar Hypoplasia, Type 8
Patent foramen ovale, Arthrogryposis multiplex congenita, Anteverted nares, Ventricular septal de... OMIM:614961
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia, Nasal flaring, Ectodermal dysplasia OMIM:268320
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of pr... OMIM:300952
Branchioskeletogenital Syndrome
Mandibular prognathia, Amelia involving the lower limbs, Absent nipple, Depressed nasal bridge, P... ORPHA:1299
Papa Syndrome
Proteinuria ORPHA:69126
Fibrodysplasia Ossificans Progressiva
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency OMIM:135100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... ORPHA:364577
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... ORPHA:447
Lathosterolosis
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Increased mean... OMIM:607330
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Globus pallidus calcification, Wide nasal bridge, Short nose OMIM:620292
Temtamy Preaxial Brachydactyly Syndrome
Short hallux, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Talon cusp, Short ... ORPHA:363417
Trichohepatoenteric Syndrome 1
Hepatomegaly, Wide nose, Anteverted nares, Ventricular septal defect, Increased mean platelet vol... OMIM:222470
Isolated Cleft Lip
Situs inversus totalis, Umbilical hernia, Supernumerary maxillary incisor ORPHA:199302
Developmental And Epileptic Encephalopathy 89
Omphalocele, Flexion contracture OMIM:619124
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Mulberry molar, Supernumerary maxillary incisor, Micropht... OMIM:302350
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Short nose, Limb hypertonia OMIM:618087
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Progressive leukoencephalopathy, Apnea, Abnormal cortical gyration, Micrognathia, Cessation of he... OMIM:617527
Aase-Smith Syndrome I
Flexion contracture, Ventricular septal defect OMIM:147800
Pontocerebellar Hypoplasia, Type 10
Reduced cerebral white matter volume, Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide... OMIM:615803
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Gaucher Disease
Death in infancy, Proteinuria, Hydrocephalus, Abnormal pulmonary interstitial morphology, Respira... ORPHA:355
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Abn... ORPHA:2719
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Atrial sep... OMIM:614207
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Respiratory failu... OMIM:610505
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Long nose, Cryptorchidism, Dental malocclusion ORPHA:2115
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Wide nose, Inguinal hernia, Ventricular septal defect, Membranoproliferative glomer... OMIM:619525
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
D-Bifunctional Protein Deficiency
Hepatomegaly, Decreased muscle mass, Depressed nasal bridge, Micrognathia, Splenomegaly, Primary ... OMIM:261515
Bartsocas-Papas Syndrome 2
Microphthalmia, Small hand, Micrognathia OMIM:619339
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Progressive flexion contractures, Malar flattening, Underdevelop... ORPHA:3103
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Hypoparathyroidism, Micromelia, Fetal pyelectasis, Abnormal circulating calcium... ORPHA:50810
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Mandibular prognathia, Death in infancy, Respiratory failure, Chylothorax, ... OMIM:620278
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Ventricular septal defect, Unilateral renal agenesis,... OMIM:617140
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Scarring alopecia of scalp, Dental malocclusion, Wide nasal bridge,... OMIM:618727
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Prominent nasal bridge, Precocious puberty, Moderate albuminuria, Short toe, Hydronephrosis, Dela... OMIM:619269
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Celiac disease, Dysplastic corpus callosum, Bulbous nose, Lateral ventricle dilatation, Dilated t... ORPHA:544488
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Cohen-Gibson Syndrome
Depressed nasal bridge, Cryptorchidism, Patent ductus arteriosus, Flexion contracture, Wide nasal... OMIM:617561
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Telangiectasia of the skin, Underdeveloped nasal a... OMIM:616007
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Abnormal renal morp... ORPHA:363700
Slc35A2-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Pterygium Colli, Isolated
Short nose OMIM:177990
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Choanal atresia, Rhab... OMIM:251260
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti ORPHA:254519
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure, Ischemic stroke, Pleural effusion, Abnormality o... ORPHA:679
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Skeletal muscle atrophy, 11 pairs of ribs, Hyperthyroidism, Ventricular se... ORPHA:488632
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Plaa-Associated Neurodevelopmental Disorder
Cerebral white matter atrophy, Apnea, Abnormal cortical gyration, Micrognathia, Microcephaly, Res... ORPHA:521426
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Depressed nasal bridge, Glutaric aciduria, Generalized aminoaciduria, Renal cortica... OMIM:231680
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Wheezing, Abnormal lung morphology, H... ORPHA:2035
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Bruising susceptibility, Cerebellar hypoplasia, Short nose, Re... ORPHA:561
Spondylocarpotarsal Synostosis Syndrome
Scapular winging, Inguinal hernia, Anteverted nares, Short metacarpal, Broad nasal tip, Hypoplasi... OMIM:272460
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Branchial fistula, Wide nose, Ventricular septal defect, Camptodactyly of ... ORPHA:261337
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:99880
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Dysuria, Prominent nose, Upper limb muscle weakness, Distal amyotrophy, ... ORPHA:101000
3Mc Syndrome
Diastasis recti, Supernumerary nipple, Abnormal nasal morphology, Bilateral cryptorchidism, Umbil... ORPHA:293843
Deafness, Unilateral
Unilateral deafness OMIM:125000
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Choanal atresia, Hypo... OMIM:603457
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Dental crowding, Narrow nasal ridge, Open bite, Colpocephaly, High ... OMIM:620083
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder flexion contrac... OMIM:620369
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Angioedema, Erythema, Hematuria, Restrictive ve... ORPHA:761
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Hypospadias, Cryptorchidism, Cigarette-paper scars, Varicose ve... ORPHA:286
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Coffin-Siris Syndrome 11
Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge OMIM:618779
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Inguinal hernia, Hepatomegaly, Anteverted nares, Prominent nasal bridge,... ORPHA:1454
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Microce... OMIM:609049
Down Syndrome
Ventricular septal defect, Short middle phalanx of the 5th finger, Complete atrioventricular cana... OMIM:190685
Doors Syndrome
Adrenal hyperplasia, Nephrocalcinosis, Spina bifida occulta, Anteverted nares, Wide nasal bridge,... ORPHA:79500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Depressed nasal bridge, Choanal atresia, Prominent nose, Abnormal circulating thyroid hormone con... ORPHA:480880
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Renal cyst, Camptodactyly of ... OMIM:601803
Desbuquois Dysplasia 1
Microretrognathia, Neonatal respiratory distress, Depressed nasal bridge, Concave nasal ridge, In... OMIM:251450
Campomelic Dysplasia
11 pairs of ribs, Depressed nasal bridge, Small abnormally formed scapulae, Micrognathia, Fibular... ORPHA:140
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Patent ductus arteriosus, Incr... ORPHA:457395
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Microcephaly, Carious teeth, Excessive wrinkled skin, Intrauterine growth retar... OMIM:219200
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Wagro Syndrome
Mandibular prognathia, Proteinuria, Micrognathia, Aniridia, Nephroblastoma OMIM:612469
Hereditary Hyperekplexia
Umbilical hernia, Hernia, Hiatus hernia ORPHA:3197
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Depressed nasal bridge OMIM:618325
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:143
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Small... OMIM:609460
Infantile Krabbe Disease
Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Re... ORPHA:206436
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Micrognathia, Underdevel... OMIM:619005
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Broad nasal tip, Wide nasal bridge, Hypoplasia of the iri... OMIM:619194
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Decreased response to growth hormone stimulation ... ORPHA:506358
Crouzon Syndrome
High palate, Hydrocephalus, Deviated nasal septum, Dental crowding OMIM:123500
Hellp Syndrome
Proteinuria, Poor wound healing, Hemoglobinuria, Pleural effusion, Acute kidney injury, Pulmonary... ORPHA:244242
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Umbilical hernia, Inguinal hernia ORPHA:3218
Geleophysic Dysplasia 1
Hepatomegaly, Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Sho... OMIM:231050
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Aicardi-Goutieres Syndrome 1
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Erythema... OMIM:225750
Knobloch Syndrome 1
Duplicated collecting system, Occipital encephalocele, Depressed nasal bridge, Bulbous nose, Phth... OMIM:267750
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Depressed nasal bridge, Microcytic anemia OMIM:612379
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Pitt-Hopkins Syndrome
Overhanging nasal tip, Anteverted nares, Prominent nasal bridge, Microcephaly, Triangular nasal t... ORPHA:2896
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Carious teeth, Sple... ORPHA:93
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Microcephaly ORPHA:1867
Dravet Syndrome
Cyanotic episode, Global brain atrophy ORPHA:33069
Mend Syndrome
Prominent nasal bridge, Micrognathia, Cryptorchidism, Abnormal heart morphology, Abnormal nasal b... ORPHA:401973
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Cerebral calcification, Microcephaly, Leukoencephalopathy, Death in childhoo... OMIM:619147
Joubert Syndrome 39
Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic ... OMIM:619562
White-Kernohan Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Horseshoe kidne... OMIM:619426
Agel Amyloidosis
Proteinuria, Respiratory tract infection, Stage 5 chronic kidney disease, Bruising susceptibility... ORPHA:85448
Geleophysic Dysplasia 2
Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Short foot, Aortic valv... OMIM:614185
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Depressed nasal bridge, Cholelithiasis, Precocious puberty, Hepatosplenomegaly, Bif... OMIM:301066
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Persistence of primary teeth, Micrognathia, Thrombocytopenia, Distal ... ORPHA:2785
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Disproportionate shortening of the tibia, Short r... OMIM:263520
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Fetal megacystis, Short palm, Retrognathia ORPHA:73246
Al-Gazali Syndrome
Wrist flexion contracture, Hydronephrosis, Micrognathia OMIM:609465
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation, Exercis... OMIM:607155
Blepharocheilodontic Syndrome 1
Neural tube defect, Choanal atresia OMIM:119580
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Ovarian fibroma, Spina bifida, Cardiac fibroma, Wide nasal bridge, Cardiac... OMIM:109400
Monosomy 22Q13.3
Renal dysplasia, Bulbous nose, Dental malocclusion, Wide nasal bridge, Vesicoureteral reflux, Umb... ORPHA:48652
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... OMIM:620024
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Cloacal Exstrophy
Omphalocele, Bladder exstrophy, Cloacal exstrophy ORPHA:93929
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Respiratory failure, Confluent hyperintensity of cerebral white matter on ... ORPHA:280210
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Carious teeth, Lateral ventricl... OMIM:619229
Campomelic Dysplasia
11 pairs of ribs, Absent sternal ossification, Depressed nasal bridge, Hypoplastic scapulae, Spin... OMIM:114290
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Aplasia/Hypoplasia of the clavicles, Micrognathia, Generalized lipodystrophy, Delayed... ORPHA:90154
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture... ORPHA:261552
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidi... OMIM:130650
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Microphthalmia, Syndromic 6
Anophthalmia, Micrognathia, Microcephaly, Renal hypoplasia, Aplasia/Hypoplasia of the corpus call... OMIM:607932
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Protein... ORPHA:470
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec... OMIM:602450
Gomez-Lopez-Hernandez Syndrome
Malar flattening, Short nose, Anteverted nares, Decreased response to growth hormone stimulation ... OMIM:601853
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr... ORPHA:560
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Cockayne Syndrome
Cerebral calcification, Urinary incontinence, Basal ganglia calcification, Cerebral dysmyelinatio... ORPHA:191
Mosaic Trisomy 20
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cryptorchidism, Dysplastic tr... ORPHA:1724
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... ORPHA:391665
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, ... ORPHA:2554
Opsismodysplasia
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Respiratory insuffici... OMIM:258480
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Primary Hyperoxaluria
Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease... ORPHA:416
Orofaciodigital Syndrome Type 5
Microcephaly, Supernumerary tooth, Crossed fused renal ectopia, Agenesis of corpus callosum, Enam... ORPHA:2919
Pearson Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Ataxia, Hypomagnesemia, Lacticac... ORPHA:699
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Abn... ORPHA:35687
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con... OMIM:178110
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Short thu... OMIM:268400
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Limb hypertonia ORPHA:488613
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor... ORPHA:857
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Underdeveloped na... OMIM:618332
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Ataxia, Gait ataxia, Myoglobinuria OMIM:616878
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Ataxia-Telangiectasia
Sinusitis, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopeni... OMIM:208900
Tetrasomy 12P
Delayed eruption of teeth, Short nose, Anteverted nares ORPHA:884
Dubowitz Syndrome
Delayed eruption of teeth, Inguinal hernia, Aplastic anemia, Prominent nasal bridge, Hypospadias,... OMIM:223370
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Arteriov... ORPHA:1556
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Tubulointerstiti... ORPHA:358
Cadds
Micrognathia, Abnormal cerebral white matter morphology, Intrauterine growth retardation, Short n... ORPHA:369942
Dubowitz Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Hypoparathyroidism, Depressed nasal b... ORPHA:235
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture... ORPHA:261537
Mowat-Wilson Syndrome
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture... ORPHA:2152
Fetal Hydantoin Syndrome
Cryptorchidism, Depressed nasal ridge, Hernia, Short nose, Short distal phalanx of finger ORPHA:1912
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, ... OMIM:232200
Orofaciodigital Syndrome V
Recurrent respiratory infections, Agenesis of corpus callosum, Horseshoe kidney, Microcephaly OMIM:174300
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Bilateral cryptorchidism, Neutropenia, Microphthalmia, Lymphopenia OMIM:616395
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Micromelia, Micrognathia, Vesicoureteral re... ORPHA:199
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Short hallux, Hypoplasia of the maxilla, Cryptorchidism... OMIM:608156
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Nail-Patella Syndrome
Renal insufficiency, Acroparesthesia, Proteinuria, Abnormality of the kidney, Impaired temperatur... ORPHA:2614
Monosomy 22
Wide nose, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures... ORPHA:96123
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Broad nasal tip, Partial agenesis of the corpus callosum, Patent ductus arteriosus,... OMIM:619480
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Anteverted nares, Micrognathia, Carious teeth, Pulmonary arterial medial... OMIM:601559
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Dyspnea, 3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria OMIM:251900
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Renal cyst, Thick nasal alae, Depressed nasal brid... ORPHA:744
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Micrognathia, Short metatarsal, Short foot, Hydronephrosis, Short ... OMIM:600383
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Micrognathia, Pachygyria, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia ... OMIM:253280
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Bile duct proliferation, Hepatomegaly OMIM:607361
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Absent septum pellucidum, Micrognathia, Microcephaly, Hydrocephalus,... OMIM:194190
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased... ORPHA:100078
Opsismodysplasia
Hepatomegaly, Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies, Short nose ORPHA:2746
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Microretrognathia, Inguinal hernia, Decreased testicular size, Ventricular... ORPHA:459070
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Wide nasal bridge, Renal cyst, Convex nasal ridge OMIM:601539
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Jaundice, Hepatitis OMIM:194380
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Micrognathia, Ren... ORPHA:93271
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Arterial tortuosity, Descending thoracic aorta aneurysm, Pat... OMIM:609192
Adnp Syndrome
Inguinal hernia, Recurrent urinary tract infections, Depressed nasal bridge, Urinary incontinence... ORPHA:404448
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Decreased 3-hydroxya... ORPHA:71212
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge, Short ribs OMIM:615503
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Short nose, Depressed nasal bridge ORPHA:93258
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Glomerular sclerosis,... OMIM:223900
Baller-Gerold Syndrome
Optic nerve hypoplasia, Abnormality of the kidney, Micrognathia, Prominent nasal bridge, Underdev... OMIM:218600
Buerger Disease
Acrocyanosis ORPHA:36258
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Absent nipple, Renal agenesis, Congenital diaphragm... OMIM:200980
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia, Shawl scrotum ORPHA:261265
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Pneumonia, Palpable pu... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Wide nasal bridge, Lateral ventricle dilatation, Fused teeth, High palat... OMIM:300896
Jaberi-Elahi Syndrome
Depressed nasal bridge, Microcephaly, Globus pallidus hypointensity on susceptibility-weighted im... OMIM:617988
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Macroglossia, Malar flattening,... ORPHA:357001
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Hyperekplexia 1
Umbilical hernia, Inguinal hernia OMIM:149400
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Cranium bifidum occultum, Micr... OMIM:229400
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hemoglobinuria, Hypokalemia, Increased circulating lactate dehydrogenase co... ORPHA:90038
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... OMIM:618748
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Renal cyst ORPHA:79303
Lethal Acantholytic Erosive Disorder
Natal tooth, Respiratory failure, Fragile skin, Intrauterine growth retardation ORPHA:158687
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, ... OMIM:619036
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Cerebral cortical atrophy, Advanced eruption of teeth, Short nose, Broad ... OMIM:617865
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypospadias, Abnormality of the kidney, Micrognathia, Microceph... ORPHA:280
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia OMIM:614170
Mitochondrial Complex I Deficiency, Nuclear Type 32
Cerebral atrophy, Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Retrognathia, Convex na... OMIM:212066
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Broad nasal tip, Carious teeth, Hig... OMIM:615873
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micromelia, Missing ribs, Micrognathia, Short ribs, Polycystic kidney dysplasia, Hyperechogenic k... OMIM:617866
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Anteverted nares, Broad nasal tip, Phimosis, Cryptorchidism, Patent ductus arter... ORPHA:363611
Faciodigitogenital Syndrome, Autosomal Recessive
Inguinal hernia, Anteverted nares, Prominent nasal bridge, Trismus, Cryptorchidism, Dental malocc... OMIM:227330
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnormal heart morpho... ORPHA:322
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilater... OMIM:308205
Atelosteogenesis, Type I
Encephalocele, 11 pairs of ribs, Short metacarpal, Short femur, Depressed nasal bridge, Rhizomeli... OMIM:108720
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Breas... OMIM:181450
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Micrognathia, Pro... ORPHA:2636
Occipital Horn Syndrome
Short humerus, Hiatus hernia, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Short c... OMIM:304150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadi... ORPHA:93111
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit... ORPHA:79329
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diastasis recti OMIM:618419
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Cough, Urinary he... ORPHA:556
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Depressed nasal bridge, Ectopic kidney, Microcephaly, Hydrocephalus, Polymicrogyria,... OMIM:607872
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Apnea, Micrognathia ORPHA:1129
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Thin vermil... OMIM:619869
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Prominent nasal bridge, Homocystinuria, Prominent nose, Dental malocclusion, Short fin... OMIM:601552
Oeis Complex
Omphalocele, Absence of the sacrum, 11 pairs of ribs, Duplicated collecting system, Hydroureter, ... OMIM:258040
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Microcephaly, Hypoplasia of the corpus callosum, Microphtha... OMIM:156610
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Hydronephrosis, Hepatosplenomegaly ORPHA:541423
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Pyelonephritis, Respiratory failure, Acut... ORPHA:533
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Renal hypoplasia, Micropenis, Intrauterine g... OMIM:619321
Xp21 Deletion Syndrome
Apneic episodes in infancy, Agenesis of corpus callosum ORPHA:261476
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, ... OMIM:232220
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Intracran... OMIM:613406
Myasthenia Gravis
Dyspnea, Acrocyanosis, Glycosuria ORPHA:589
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Depressed nasal bridge, Short nose OMIM:618430
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus... ORPHA:2020
Cerebellofaciodental Syndrome
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange... OMIM:616202
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Micrognathia, Underdeveloped nasal alae, Hypothyroidism, Supernumer... ORPHA:2108
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Inguinal hernia, Hypogonadism, Megaloblastic anemia ORPHA:79351
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Occipital meningo... ORPHA:268810
C Syndrome
Omphalocele, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Congenital d... ORPHA:1308
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Cryptorc... OMIM:309800
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia o... OMIM:612284
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria, Jaundice, Prolonged neonatal jaundice OMIM:300908
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Spider hemangioma, Recurrent upper respiratory tract infections... OMIM:232240
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Ramos-Arroyo Syndrome
Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious teeth, Xerostomia, Conca... ORPHA:1051
Myopathy With Lactic Acidosis, Hereditary
Dyspnea, Myoglobinuria OMIM:255125
21Q22.11Q22.12 Microdeletion Syndrome
Agenesis of corpus callosum, Bulbous nose, Anteverted nares, Microcephaly ORPHA:261323
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Multiple renal cysts, Limb undergrowth, Abnormal pancreati... ORPHA:1190
Larsen Syndrome
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Short metata... OMIM:150250
Tetrasomy 18P
Short nose, Microcephaly ORPHA:3307
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Inguinal hernia, Anteverted nares, Diastasis recti, Micrognathia, Broad nasal tip, Renal cortical... OMIM:618548
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Depressed nasal bridge, Urolithiasis, Hyperuricosuria, Death in... OMIM:300661
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Anteverted nares, Central hypoventilation, Depressed nasal bridge, Ast... ORPHA:293987
Johanson-Blizzard Syndrome
Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Hypospadias, Urethrovaginal fistula, ... OMIM:243800
Distal Deletion 9P
Short nose, Hypospadias, Wide nasal bridge, Hernia ORPHA:1642
Aicardi Syndrome
Prominence of the premaxilla, Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypo... ORPHA:50
Joubert Syndrome 1
Anteverted nares, Renal cyst, Occipital myelomeningocele, Macroglossia, Nephropathy OMIM:213300
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microretrognathia, Microcephaly, Epispadias, Supernumerary tooth, Bulbo... ORPHA:434179
Neuroocular Syndrome
Hypoplasia of the fovea, Scapular winging, Lens coloboma, Microphthalmia, Umbilical hernia, Retro... OMIM:619539
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Venous insufficiency, Genital hernia, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:285
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Sinusitis, Severe B lympho... OMIM:102700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum... ORPHA:1071
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Absent thumb, Short thumb, Cari... ORPHA:2363
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Microme... OMIM:200600
Momo Syndrome
Delayed eruption of teeth, Abnormality of the thyroid gland, Bilateral microphthalmos, Dental mal... ORPHA:2563
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis, Cerebral hemorrhage, Short distal phalanx of finger OMIM:277450
Craniopharyngioma
Hydrocephalus, Abnormal nasal bone morphology ORPHA:54595
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Neutropenia, Short pa... ORPHA:93357
Thyroid Ectopia
Abnormality of the thyroid gland, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypothyroidism ORPHA:95712
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Micrognathia OMIM:617306
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er... ORPHA:264580
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Myoglobinur... ORPHA:79240
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Proteinuria, Cerebral hemorrhage, Hiatus hernia, Precocious puberty, C... OMIM:616682
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Recurrent respiratory infections, Abnormality of the kidney,... ORPHA:1764
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Cortical dysplasi... ORPHA:268943
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Epistaxis, Carious teeth, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocal... ORPHA:79259
Myasthenic Syndrome, Congenital, 21, Presynaptic
Hyperintensity of cerebral white matter on MRI, Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormality of the uppe... ORPHA:2273
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Short nose, Anteverted nares OMIM:103050
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Fucosidosis
Acrocyanosis, Mucopolysacchariduria, Vascular skin abnormality ORPHA:349
Xeroderma Pigmentosum, Complementation Group B
Progeroid facial appearance, Microcephaly, Basal ganglia calcification, Microphthalmia, Cutaneous... OMIM:610651
Gaucher Disease Type 3
Recurrent respiratory infections, Proteinuria, Abnormal pulmonary interstitial morphology, Hematu... ORPHA:77261
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cardiorespiratory arrest, Respiratory insufficiency, Cerebellar hypoplasia, Pachygyria, Agenesis ... ORPHA:93317
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia, Ventriculomegaly OMIM:120200
Meier-Gorlin Syndrome 7
Urethral stricture, Ventricular septal defect, Choanal atresia, Hypospadias, Aplasia/Hypoplasia o... OMIM:617063
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, Cryptorchidism, Meningocele, ... ORPHA:2879
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Depressed nasal bridge, Micrognathia, Carious teeth, Microcephaly, Wide nasal bridge... OMIM:616734
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Microphthalmia, Recurrent respiratory infections ORPHA:1806
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Hepatomegaly, Ventricular septal defect, Pericardial effusion, D... ORPHA:26793
Treacher Collins Syndrome 1
Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morpholog... OMIM:154500
Niemann-Pick Disease Type C
Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Cerebral at... ORPHA:646
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Wide nose, Renal agenesis, Choanal atresia, Renal hypoplasia/ap... ORPHA:2753
Oculo-Palato-Cerebral Syndrome
Microcephaly, Asthma, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Frontal cortical... ORPHA:2714
6Q Terminal Deletion Syndrome
High, narrow palate, Colpocephaly, Thick vermilion border, Cerebellar hypoplasia, Broad philtrum ORPHA:75857
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Deeah Syndrome
Death in infancy, Neonatal respiratory distress, Death in adolescence, Death in childhood, Promin... OMIM:619004
Sacral Defect With Anterior Meningocele
Myeloschisis, Neurogenic bladder, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus trac... OMIM:600145
Glycogen Storage Disease Xii
Increased circulating lactate dehydrogenase concentration, Jaundice, Elevated circulating alanine... OMIM:611881
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Short femoral neck, Malar flat... OMIM:616723
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Bulbous nose, Patent ductus arteriosus, Sh... OMIM:618268
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture ORPHA:79409
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Micropenis, Agenesis of corpus callosum, Renal dysplasia, Enlarged k... OMIM:613091
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Depressed nasal bridge, Micrognathia, Pneumothor... ORPHA:3404
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Macrodontia of pe... OMIM:154780
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Wide nasal bridge, Camptodactyly, Ma... OMIM:601088
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Hypoplasia of the radius, Wide nasal bridge, Short nose ORPHA:2557
Cerebrofaciothoracic Dysplasia
Wide nose, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Short nose, Cerebral ... ORPHA:1394
Familial Mediterranean Fever
Proteinuria, Erythema, Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Pleuritis ORPHA:342
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Micropenis, Proteinuria OMIM:619471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Corneal scarring OMIM:212550
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Recurrent respiratory infections, Anteverted nares, Jaundice, Simplified gyral pattern, Cerebella... OMIM:614231
Chronic Mucocutaneous Candidiasis
Dyspareunia, Abnormal vagina morphology ORPHA:1334
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Sho... OMIM:303600
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Short metacarpal, Wide nasal bridge, Microphthalmia, Malar flattening, Sho... OMIM:201180
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Missing ribs, Urethral atresia, Short ribs, Hydronephrosis OMIM:271520
Kawasaki Disease
Proteinuria, Recurrent pharyngitis, Jaundice, Abnormal pulmonary interstitial morphology, Sterile... ORPHA:2331
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, Ectopic kidney, Atrial septal defect, Hashimoto thyroiditis,... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, Ectopic kidney, Atrial septal defect, Hashimoto thyroiditis,... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, Ectopic kidney, Atrial septal defect, Hashimoto thyroiditis,... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, Ectopic kidney, Atrial septal defect, Hashimoto thyroiditis,... ORPHA:99413
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, B... OMIM:617157
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Infection-Related Hemolytic Uremic Syndrome
Anuria, Pneumonia, Respiratory tract infection, Dyspnea, Oliguria, Pleuritis, Pleural empyema, Ac... ORPHA:544482
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Narrow nasal tip, Narro... ORPHA:740
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Increased circulating gonadotropin level, Depressed nasal bridge, Wide nasal bridge OMIM:110100
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Duplicated collecting system, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Pulmoni... OMIM:607721
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Prominent nasal tip, Short nose, Progressive flexion contractures ORPHA:522077
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria ORPHA:536
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Depressed nasal bridge, Hypospadias, Broad nasal tip, Micrognathia, Cryp... OMIM:309590
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... OMIM:600740
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Neutro... OMIM:271510
Aicardi-Goutières Syndrome
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... ORPHA:51
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Microphthalmia, Camptodactyly of finger, Supernumerary nipple ORPHA:1236
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hy... ORPHA:2612
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Ataxia, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria,... ORPHA:99885
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ... ORPHA:83471
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Bul... OMIM:619475
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci... OMIM:259900
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Cryptorchidism, Camptodactyly, Malar flattening, Short nose, Breast hypop... OMIM:601353
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test... ORPHA:319182
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Absent pulmonary artery, Hydronephrosis, Den... OMIM:610682
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect OMIM:259770
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Eisenmenger Syndrome
Respiratory distress, Renal insufficiency, Cyanosis, Increased pulmonary vascular resistance, Whe... ORPHA:97214
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum, Anteverted nares ORPHA:420794
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Congenital hypothyroidism, Ureteropelvic junction obstruction, Lower limb mus... OMIM:616973
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular telangiectasia, Microcephaly ORPHA:891
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Spontaneous pneumothor... OMIM:606721
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst, Thyroid adenoma OMIM:617100
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Short nose, Adrenal insufficiency, Ureterocele OMIM:614863
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Anteverted nares, Phthisis bulbi, Wide nasal bridge, Short palm OMIM:619727
Acquired Generalized Lipodystrophy
Proteinuria, Progeroid facial appearance ORPHA:79086
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Camptodactyly OMIM:200110
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... OMIM:175050
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... OMIM:612109
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Mpdu1-Cdg
Renal cortical cysts, Decreased serum insulin-like growth factor 1, Decreased response to growth ... ORPHA:79323
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Stickler Syndrome
Skeletal muscle atrophy, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphol... ORPHA:828
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxill... OMIM:305100
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Scalp-Ear-Nipple Syndrome
Anteverted nares, Depressed nasal bridge, Agenesis of permanent teeth, Lateral ventricle dilatati... OMIM:181270
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Scarring, Supernumerary nipple, Eosinophilia,... OMIM:308300
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst, Thyroid adenoma ORPHA:480536
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Aplasia of the thymus ORPHA:3004
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Renal cortical cysts OMIM:609180
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Crimean-Congo Hemorrhagic Fever
Purpura, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Jaundice, Hematuria, Spontaneous he... ORPHA:99827
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the odontoid pr... OMIM:271665
Nasolacrimal Duct Cyst
Nasal congestion, Deviated nasal septum ORPHA:141083
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... OMIM:619774
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Caroli Disease
Hepatomegaly, Splenomegaly, Leukocytosis, Polycystic kidney dysplasia, Cholelithiasis ORPHA:53035
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... ORPHA:95455
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Pheochromocytoma, Multiple rena... OMIM:193300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation OMIM:618367
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Ventricular septal defect, Corneal scarring OMIM:614653
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Microcephaly, Cutaneous photosensitivity, Telangiectasia OMIM:278730
Abetalipoproteinemia
Respiratory failure ORPHA:14
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi... OMIM:271640
Sting-Associated Vasculopathy, Infantile-Onset
Nasal septum perforation OMIM:615934
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Dend Syndrome
Short nose, Anteverted nares, Elevated hemoglobin A1c ORPHA:79134
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Micrognathia, Short foot, Short nose ORPHA:1974
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... ORPHA:91500
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Hypoplasia of the ulna, Short metacarpal, Delayed eruption of teeth, Mit... OMIM:143095
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, Polycystic kidn... ORPHA:480520
Acromesomelic Dysplasia 1
Short metacarpal, Short toe, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose OMIM:602875
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hyperphosphaturia, Cyanosis, Cerebral calcification, Nephrocalcinosis, Ence... ORPHA:51608
Pmm2-Cdg
Mandibular prognathia, Multiple joint contractures, Prominent nose, Elevated circulating thyroid-... ORPHA:79318
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Waardenburg Syndrome, Type 1
Aplasia of the vagina OMIM:193500
Heterotaxy, Visceral, 2, Autosomal
Agenesis of corpus callosum, Microcephaly OMIM:605376
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Short metacarpal, Rhizomelia ORPHA:85167
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Leukoencephalopathy, Hypop... OMIM:175780
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum OMIM:276300
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Micrognathia, Microcephaly, Cerebell... OMIM:216340
Toxic Epidermal Necrolysis
Abnormal vagina morphology ORPHA:537
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Broad nasal tip ORPHA:293948
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Abnormal circulating folli... ORPHA:93325
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Micrognathia OMIM:601374
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Thyroid adenoma ORPHA:220460
Chondrodysplasia Punctata, Autosomal Dominant
Hypoplasia of the nasal bone OMIM:118650
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Diabetes mellitus, Venous insufficiency, Cry... ORPHA:649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Anemia OMIM:127000
Joubert Syndrome 5
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... OMIM:610188
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Choreoacanthocytosis
Lateral ventricle dilatation, Protruding tongue ORPHA:2388
Primary Sjögren Syndrome
Vaginal dryness, Thyroiditis, Parotitis ORPHA:289390
Chronic Graft Versus Host Disease
Abnormal vagina morphology, Phimosis ORPHA:99921
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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 Lrp2

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 Lrp2.

No publications found that use IMPC mice or data for Lrp2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Lrp2tm452402(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lrp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter