Gene Summary

Name:
pericentrin (kendrin)
Synonyms:
Pcnt2,  m275Asp,  m239Asp

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Pcntem1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
anophthalmia Pcntem1(IMPC)Mbp HET Early adult 0.00
decreased body length Pcntem1(IMPC)Mbp HET Early adult 1.32×10-06
persistence of hyaloid vascular system Pcntem1(IMPC)Mbp HET Early adult 1.60×10-05
abnormal skin morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
small kidney Pcntem1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Pcntem1(IMPC)Mbp HOM E15.5 0.00
small testis Pcntem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pcntem1(IMPC)Mbp HET Early adult 0.00
microphthalmia Pcntem1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Human diseases caused by Pcnt 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 Pcnt by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhydramnios, Orofacial cleft, R... ORPHA:1692
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Abnormal lo... ORPHA:83473
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnorm... ORPHA:294975
Trisomy 1Q
Anophthalmia, Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Multicystic kidney dy... ORPHA:261344
Thanatophoric Dysplasia
Micromelia, Polyhydramnios, Atrial septal defect, Cloverleaf skull, Abnormality of the kidney, Ab... ORPHA:2655
Trisomy 13
Anophthalmia, High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Atrial septal defect,... ORPHA:3378
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Cardiomegaly, Beaded ribs, Brachycephaly, Hydrops fetalis, Micropenis, Hypospadia... OMIM:616897
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Hy... ORPHA:1909
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Finger ... ORPHA:99776
19P13.12 Microdeletion Syndrome
Brachycephaly, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Finger syndactyl... ORPHA:254346
Mosaic Variegated Aneuploidy Syndrome
Apnea, Polyhydramnios, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Aplasia/H... ORPHA:1052
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Pericardial ... OMIM:613885
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Congestive heart failure, Hydrocephalus, Gingival overgrowth, Cere... OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Ventricular septal defect, Postaxial polydactyly, Megalencephaly, Pachygyria, Ab... OMIM:603387
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... OMIM:101200
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
C Syndrome
Micromelia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Short stature, A... OMIM:211750
Mulibrey Nanism
Dental crowding, Single transverse palmar crease, Cardiomegaly, Hydrops fetalis, Pericardial cons... OMIM:253250
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Neona... OMIM:269860
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Tricuspid regurgitation, Postaxial... OMIM:619879
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Proximal femoral metaphyseal irregu... ORPHA:397715
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Renal Tubular Dysgenesis
Premature birth, Polyhydramnios, Microcephaly, Oligohydramnios, Renotubular dysgenesis, Proximal ... ORPHA:3033
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Flat occiput, Brachycephaly, Conotruncal defect, Downturned corners of mouth... ORPHA:96147
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Brachycephaly, ... OMIM:619148
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Short stature, Micromelia, Microcephal... OMIM:241800
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v... OMIM:614424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... ORPHA:508498
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Congenital Heart Block
First degree atrioventricular block, Crackles, Atrioventricular block, Hydrops fetalis, Vaginal b... ORPHA:60041
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... ORPHA:90308
Temtamy Syndrome
Aortic regurgitation, Frontal bossing, Dental crowding, Hip dislocation, Thick corpus callosum, H... OMIM:218340
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Brachycephaly, Hydrops fetalis, Atrial septal defect, Micropenis, P... OMIM:263520
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ... ORPHA:261330
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's b... OMIM:615879
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Renal cyst, High palate, Atrial septal defect, Pachygyria, Agene... OMIM:614866
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Arachnodactyly, Dental crowding, Narrow mouth, Brachycephaly, Cerebral atrophy, ... OMIM:615539
Monosomy 18Q
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Diffuse white matter abnormalitie... ORPHA:1600
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Reduced left ventricul... OMIM:620236
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, High palate, Holoprosencephaly, Short philtrum, Widely... OMIM:612530
Grange Syndrome
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... ORPHA:79094
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Microcephaly, Patent... ORPHA:3304
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormal finger morphology, Abnormal lung lobation, Phocomelia, Atrial septal defec... ORPHA:2538
Hurler Syndrome
Metaphyseal widening, Endocardial fibroelastosis, Microdontia, Hypoplasia of the femoral head, Sh... OMIM:607014
Zttk Syndrome
Unilateral lung agenesis, Downturned corners of mouth, High palate, Short philtrum, Atrial septal... OMIM:617140
Linear Skin Defects With Multiple Congenital Anomalies 1
Single transverse palmar crease, Anteriorly placed anus, Atrial septal defect, Histiocytoid cardi... OMIM:309801
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Ventriculomegaly, Femoral ret... OMIM:616531
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,... OMIM:617021
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Frontal bossing, Apnea, Glutaric aciduria, Multifocal cerebral white matter... OMIM:600721
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... ORPHA:2302
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs... ORPHA:88630
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Frontal bossing, Atrial septal defect, Rhizomelia, Single transverse palmar... OMIM:614114
Czeizel-Losonci Syndrome
Single transverse palmar crease, High palate, Spina bifida occulta, Spina bifida, Myelomeningocel... ORPHA:2437
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Microd... OMIM:614091
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Abnormal fi... ORPHA:314585
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Single transverse palmar crease, High, narrow palate, Aminoaciduria, High palate, U... OMIM:214100
2P15P16.1 Microdeletion Syndrome
Polyhydramnios, Brachycephaly, High palate, Bilateral single transverse palmar creases, Multicyst... ORPHA:261349
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... OMIM:617022
Marden-Walker Syndrome
High, narrow palate, Hypoplasia of the brainstem, High palate, Micropenis, Agenesis of corpus cal... OMIM:248700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Frontal bossing, Arachnodactyly, High, narrow palate, Hydrocephalus, Should... ORPHA:2181
Cerebrooculofacioskeletal Syndrome 3
Decreased fetal movement, Rocker bottom foot, Edema, Microcephaly, Cleft palate, Talipes equinova... OMIM:616570
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertropy, Split hand, Gingival o... OMIM:252500
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... OMIM:611134
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn... ORPHA:3472
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Ventricular septal defect, Missing ribs, Hydrocephalus, Tetralogy of Fal... OMIM:220210
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p... OMIM:615524
Microphthalmia, Syndromic 9
Anophthalmia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Neon... OMIM:601186
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Cleft upper lip, Short thumb,... OMIM:612561
Noonan Syndrome 13
Lymphedema, High palate, Widely spaced teeth, Atrial septal defect, Cavum septum pellucidum, Micr... OMIM:619087
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left ventricular hypertrophy,... OMIM:300280
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Abnormal aortic arch morphology, High palate, Vesicou... ORPHA:2059
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... OMIM:614815
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Alg3-Cdg
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Metaphyseal chondrodysplasia... ORPHA:79321
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Hydrocephalus, Patent ductus arterio... ORPHA:314588
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral calcification, Ventriculomegaly, Cerebral hemorrhag... OMIM:617397
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, Calcaneovalgus deformity, Absent phalangeal crease, High palate, Atrial septal d... ORPHA:230851
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Nonimmune hydrops fetalis,... OMIM:619003
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous synda... OMIM:236500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage... OMIM:314390
Thanatophoric Dysplasia, Type I
Champagne cork sign, Polyhydramnios, Femoral bowing, Neonatal death, Neonatal respiratory distres... OMIM:187600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Micromelia, Polyhydramnios, Preaxial polydactyly, Hydrops fetalis, ... OMIM:616546
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Hydrops fetalis, Encephalocele, Respiratory insufficiency, Short ... ORPHA:1865
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Neonatal respiratory distress, Abnormal atrial arrangement, Respiratory t... ORPHA:244
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short lingual frenulum, Short stature, Renal agenesis, Anomalous origin of ... ORPHA:2326
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Broad ribs, Caesarian section, Tricuspid regurgitat... OMIM:253200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Da... OMIM:616300
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... OMIM:618316
Endocardial Fibroelastosis
Hypoplasia of penis, Sandal gap, Congestive heart failure, Endocardial fibroelastosis, Restrictiv... ORPHA:2022
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Agenesis of corpus callosum, Dandy-Walker malformation... OMIM:249000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventricular septal... ORPHA:477817
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhy... OMIM:618291
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Mic... OMIM:618142
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Brachycephaly, High palate, Atrial septal defect, Wrist flexion contractur... OMIM:121050
Distal Deletion 15Q
Flat occiput, Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyl... ORPHA:1596
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Abnormal ... OMIM:616733
Gillessen-Kaesbach-Nishimura Syndrome
Thickened nuchal skin fold, Ulnar deviation of the hand, Polyhydramnios, Microcephaly, Metaphysea... OMIM:263210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Microcephaly, Renal hypoplasia/aplasia, Cleft palate, R... ORPHA:1166
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri... OMIM:253010
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema... OMIM:601927
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventriculomegaly, Ventricular septal defect, Megalencephaly, Hydrocephalus, Progressi... OMIM:602501
Cednik Syndrome
Proteinuria, Short stature, Abnormality of the dentition, Microcephaly, Congestive heart failure,... ORPHA:66631
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Esop... ORPHA:77298
Dyrk1A-Related Intellectual Disability Syndrome
Renal cyst, Hypoplasia of the brainstem, Clinodactyly of the 5th finger, Micropenis, Pelvic kidne... ORPHA:464306
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Odontochondrodysplasia 1
Respiratory distress, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger... OMIM:184260
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Noonan Syndrome 8
Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Short stature, Polyhydram... OMIM:615355
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Polyhydramnios, Abnormal lung lobation, Holopro... ORPHA:818
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Flat occiput, Proteinuria, Microcephaly, Aminoaciduria, Short philtrum, Cli... OMIM:603585
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum, Vesicour... ORPHA:567
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Prematur... ORPHA:70589
3C Syndrome
Hypoplasia of penis, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, A... ORPHA:7
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Reduced cerebral white matter volume, Hydrocephalus, Macrocephaly, Hypoplasia of t... OMIM:618174
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
16Q24.3 Microdeletion Syndrome
Frontal bossing, Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Proximal pl... ORPHA:261250
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis of corpus callosum, Encephalocele, ... OMIM:264480
Recombinant Chromosome 8 Syndrome
Brachycephaly, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger,... OMIM:179613
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Pyloric stenosis, Paten... ORPHA:98892
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse... OMIM:235510
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Abnormal lung lobation, Triphalangeal thumb, ... ORPHA:1120
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Broad skull, Intracranial hemorrhage, Short philtrum, At... ORPHA:163979
Osteogenesis Imperfecta
Abnormality of dental color, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Br... ORPHA:666
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular... OMIM:615583
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Microcephaly, Cerebral atrophy, Cardiomyopathy, Thin vermilion border,... OMIM:608540
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... OMIM:615938
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Glossoptosis, Premature rupture of... OMIM:311900
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, ... OMIM:612863
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Spatulate ribs, Diastema, Open bite, Dispropor... OMIM:619698
Turnpenny-Fry Syndrome
Cerebellar vermis hypoplasia, Dental crowding, Polyhydramnios, Brachycephaly, Prominent interphal... OMIM:618371
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Mosaic Trisomy 16
Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ... ORPHA:1708
Neu-Laxova Syndrome 1
Micromelia, Swollen lip, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus deformity, Neona... OMIM:256520
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Short stature, Polyhydramnios, High, narrow palate, Mitra... OMIM:619745
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Short stature, Abnormality of the kidney, Micro... ORPHA:93274
Pallister-Hall Syndrome
Ectopic kidney, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Ne... OMIM:146510
Weill-Marchesani Syndrome
Ventricular septal defect, Short stature, Short thumb, Mitral regurgitation, Pulmonic stenosis, A... ORPHA:3449
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis... ORPHA:90652
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve morphology, Microcephaly, Abnormal... ORPHA:1194
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Tented upper lip vermilion, Polyhydramnios, Megalencephaly, Congestive hear... ORPHA:500533
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, High palate, Microdontia, Renal neoplasm, Arachnodact... ORPHA:536467
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Chromosome 18Q Deletion Syndrome
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Atrial septal defect, M... OMIM:601808
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Polyhydramnios, Renal cyst, Micropenis, Pelvic kidney, Hypospadias, Tapered finger, Short toe, Pa... ORPHA:464311
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Fetal akinesia sequence, Dilated cardiomyopathy, Simplified gyral pattern, Hydrops f... OMIM:618815
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha... OMIM:175700
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Martsolf Syndrome 1
Enlarged sylvian cistern, Osteopathia striata, Brachycephaly, High palate, Short philtrum, Finger... OMIM:212720
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Frontal bossing, Hypospadias, Ventricular septal defect, Short stature,... OMIM:618330
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left a... ORPHA:75249
Tonne-Kalscheuer Syndrome
Hypospadias, Short stature, Microcephaly, Velopharyngeal insufficiency, Abnormal heart morphology... OMIM:300978
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Ventriculomegaly, Tricuspid regurgitation, Bicuspid aortic valve, Ventricul... OMIM:620066
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Hydrops fetalis, Narrow greater sciatic notch, Widely spaced teeth, Large iliac w... OMIM:253220
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Frontal bossing, Villous atrophy, Hypospadias, Ventricular septal defect, S... OMIM:222470
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Polyhydramnios, Microcephaly, Abnormal limb bone morphology, Hydrops fetalis, Apla... ORPHA:2204
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Respiratory distress, Ventricular septal defect, Micromelia, P... OMIM:617895
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutan... OMIM:270400
Holoprosencephaly
Hypoplasia of penis, Flat occiput, Anophthalmia, Deep philtrum, Holoprosencephaly, Aplasia/Hypopl... ORPHA:2162
Biliary, Renal, Neurologic, And Skeletal Syndrome
Edema, Polyhydramnios, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal d... OMIM:619534
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, High palate, Atrial septal defect, Micropenis, Dandy... OMIM:609029
Pentalogy Of Cantrell
Encephalocele, Hypospadias, Abnormal pericardium morphology, Ventricular septal defect, Renal age... ORPHA:1335
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Brachycephaly, Hydrops fetalis, Right ventricular dilata... ORPHA:79328
Achondrogenesis Type 1B
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Micromelia, Polyhydramnios, Di... ORPHA:93298
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Brachycephaly, Renal cyst, Atrial septal defect, Micropenis... OMIM:257300
Cardiac Lipidosis, Familial
Congestive heart failure, Microcephaly, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Brachyceph... OMIM:265380
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Short stature, Renal... OMIM:615993
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, High palate, Cough, Atrial septal defect, Micropenis... ORPHA:96170
Catel-Manzke Syndrome
Atrial septal defect, Ventriculomegaly, Ventricular septal defect, Camptodactyly of finger, Short... ORPHA:1388
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Transaldolase Deficiency
Abnormality of the kidney, Edema, Abnormal respiratory system physiology, Hydrops fetalis, Coarct... ORPHA:101028
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Relative macrocephaly, Atrial septal defect, Cerebellar vermis hypoplasia, Short stature, Abnorma... ORPHA:459061
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Polyhydramnios, Thick corpus callosum, Atrial septal defect, Oligohydramnios OMIM:615476
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Cerebral calcification, Atrial septal defect, Patent foramen ovale, Tricusp... ORPHA:505248
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Atrial septal defect, ... OMIM:618494
Trisomy 17P
Hypoplasia of penis, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Short stature,... ORPHA:261290
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Abnormal cerebral vascular mor... ORPHA:904
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Micro... OMIM:613610
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Enuresis nocturna, Posterior plagiocephaly, Oligodontia, Premature rupture o... OMIM:615873
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextro... ORPHA:2257
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Orofacial cl... ORPHA:268249
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... ORPHA:295
Weill-Marchesani Syndrome 2
Broad skull, Short metatarsal, Brachycephaly, High palate, Broad ribs, Broad metacarpals, Short m... OMIM:608328
Mucolipidosis Iii Gamma
Aortic regurgitation, Short stature, Abnormality of the hand, Flat capital femoral epiphysis, Gen... OMIM:252605
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Secundum atrial septal defect, Han... OMIM:214800
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... OMIM:618870
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Cleft palate, Hypoplasia of the ... OMIM:164180
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Microcephaly, Atelectasis, A... ORPHA:896
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Brachycephaly, High palate, Bilateral coxa valga, Atrial septal defec... OMIM:615582
Achondrogenesis Type 1A
Short palm, Frontal bossing, Multiple rib fractures, Severe short stature, Thickened nuchal skin ... ORPHA:93299
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Short phil... OMIM:301039
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Short stature, Microcephaly, Microphthalmia, Hypoplasia of t... OMIM:300887
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... ORPHA:2631
Microcephaly-Micromelia Syndrome
Micromelia, Aqueductal stenosis, Simplified gyral pattern, Neonatal death, Short tibia, Humerorad... OMIM:251230
Hydrolethalus
Anophthalmia, Premature birth, Absent septum pellucidum, Micromelia, Polyhydramnios, Postaxial ha... ORPHA:2189
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Myopathy, Centronuclear, 5
Hip contracture, Dilated cardiomyopathy, Respiratory insufficiency, Mitral regurgitation, High pa... OMIM:615959
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Neonatal omphalitis, ... OMIM:612541
Weill-Marchesani Syndrome 1
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... OMIM:277600
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Brachycephaly, High palate, Clinodactyly of th... OMIM:201000
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Short stature, Tapered finger, Dilated cardiomyopath... ORPHA:401923
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Spatulate ribs, Diffuse white matter abnormalities, Hydrops fetalis, As... ORPHA:79255
Diamond-Blackfan Anemia 21
Hallux valgus, Aortic regurgitation, Sandal gap, Short stature, Tapered finger, Microcephaly, Pre... OMIM:620072
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Overriding aorta, Micr... ORPHA:3186
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Apnea, Short stature, M... ORPHA:85201
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Bicuspid aortic valve, Short stature, Cleft upper lip, Microcephaly, Po... OMIM:243310
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly... OMIM:220500
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Brachycephaly, Anterior... OMIM:612289
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Calcaneovalgus deformity, Mitral valve prolapse, Mitral regurgitation, Brui... OMIM:225320
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Fetal distress, Atelectasis, N... ORPHA:70588
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Heart block, Anteriorly placed anus, Copper beaten skull,... OMIM:617063
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Pulmonary hypoplasia, Renal... ORPHA:3032
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Tetrasomy 5P
Respiratory distress, Pericallosal lipoma, Recurrent respiratory infections, Overlapping toe, Sho... ORPHA:3309
Hunter-Macdonald Syndrome
Bicuspid aortic valve, Brachycephaly, Pseudoepiphyses, Short philtrum, Clinodactyly of the 5th fi... OMIM:611962
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... ORPHA:185
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Ventricular septal defect, Short stature, Microcephaly, High, narrow palate, Dilated ... ORPHA:2515
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent for... OMIM:617506
Gm1 Gangliosidosis
Hydrops fetalis, Encephalomalacia, Aspiration pneumonia, Cherry red spot of the macula, Short sta... ORPHA:354
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Congestive heart failure, Hypert... ORPHA:225
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... OMIM:614473
Nanophthalmos 4
Microphthalmia OMIM:615972
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Abnormal femur morphology, Atrioven... ORPHA:324
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral regurgitation,... OMIM:619167
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Dehydration,... OMIM:212140
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Widely spaced teeth, Short stature, Split hand, Macrocephaly, Umbi... OMIM:309900
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
1Q21.1 Microdeletion Syndrome
High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Agenesis of corpus callosum, ... ORPHA:250989
Fryns Syndrome
Ureteral duplication, Tented upper lip vermilion, Single transverse palmar crease, Proximal place... OMIM:229850
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Ventriculomegaly, Absent septum pellucidum, Abnormal cortical ... ORPHA:899
Mucolipidosis Type Ii
Abnormal long bone morphology, Patent foramen ovale, Telangiectases of the cheeks, Short stature,... ORPHA:576
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Microdontia, Short phalanx... OMIM:143095
Diabetic Embryopathy
Ureteral duplication, Frontal bossing, Ventricular septal defect, Microcephaly, Renal hypoplasia/... ORPHA:1926
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Microceph... OMIM:609460
Mmep Syndrome
Median cleft lip, Ventricular septal defect, Microcephaly, Orofacial cleft, Split foot, Triphalan... ORPHA:3434
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Cardiomegaly, High palate, Agenesis of corpus callosum, Antenatal in... OMIM:608836
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Ventricular septal defec... ORPHA:93267
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Nanophthalmos
Microphthalmia ORPHA:35612
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Microcephaly, Carious teeth, Abnormal aortic arch morphology, Downturned corner... ORPHA:1110
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... OMIM:619825
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Mild microcephaly, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abno... ORPHA:363444
Hamamy Syndrome
Prolonged QRS complex, Brachycephaly, High palate, Clinodactyly of the 5th finger, Atrial septal ... OMIM:611174
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglo... OMIM:202650
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Abnormal lung lobation, Femoral bowing... OMIM:615415
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-marrow foam ce... OMIM:256550
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Ren... ORPHA:139466
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Micr... OMIM:610125
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Hiatus ... OMIM:208050
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi... OMIM:616201
Even-Plus Syndrome
Epiphyseal dysplasia, Atrial septal defect, Severe short stature, Recurrent urinary tract infecti... OMIM:616854
Hypophosphatasia, Infantile
Recurrent respiratory infections, Elevated urine pyrophosphate, Apnea, Micromelia, Abnormality of... OMIM:241500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Abnormal thumb morphology, Congestive... ORPHA:324410
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
Noonan Syndrome 10
Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Short stature, Patent duc... OMIM:616564
Thanatophoric Dysplasia Type 1
Micromelia, Polyhydramnios, Femoral bowing, Atrial septal defect, Cloverleaf skull, Abnormality o... ORPHA:1860
Campomelia, Cumming Type
Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Lymphedema, Pancreatic cysts,... ORPHA:1318
Kagami-Ogata Syndrome
Frontal bossing, Atrial septal defect, Ventricular septal defect, Premature birth, Polyhydramnios... OMIM:608149
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... ORPHA:464738
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Nephrocalcinosis, High palate, Atrial septal defect, Micropenis, Patent foramen ... OMIM:617402
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Macroce... OMIM:231680
Ctcf-Related Neurodevelopmental Disorder
Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger, Clinodactyl... ORPHA:363611
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries, Unilateral renal agenesis, Microcephaly, Postna... OMIM:616603
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Genu valgum OMIM:607016
Thomas Syndrome
Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, Cleft palate, Hypoplasti... ORPHA:3316
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Short stature, Camptodactyly of finger, T... OMIM:607015
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... OMIM:228520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Abnormal left ventricular function, Vesicoureteral reflux, Pulmonary artery atres... OMIM:301056
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Decreased fetal movement, Neonatal respiratory distress, Premature birth, Abnormal cortical gyrat... OMIM:616867
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Renal cyst, Bilat... OMIM:618460
Myopathy, Myofibrillar, 6
Scapular winging, Reduced forced vital capacity, Respiratory insufficiency, Restrictive ventilato... OMIM:612954
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenos... OMIM:306955
Gm1-Gangliosidosis, Type I
Frontal bossing, Severe short stature, Abnormal heart valve morphology, Thickened ribs, Congestiv... OMIM:230500
Orofaciodigital Syndrome I
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Syndactyly, Short... OMIM:311200
Microphthalmia With Limb Anomalies
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High pa... ORPHA:1106
Lethal Congenital Contracture Syndrome 11
Decreased fetal movement, Polyhydramnios, Elbow flexion contracture, Bilateral talipes equinovaru... OMIM:617194
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se... OMIM:619980
Periventricular Nodular Heterotopia 1
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Cerebel... OMIM:300049
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Single transverse palmar crease, High palate, Short philtrum, Atrial ... OMIM:616449
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodac... ORPHA:2462
Congenital Disorder Of Glycosylation, Type If
Microcephaly, Renal cortical cysts, Cerebral atrophy, Thin vermilion border, Parietal bossing, Ve... OMIM:609180
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Brachycephaly, Renal cyst... ORPHA:261494
Aspergillosis
Sinusitis, Abnormal long bone morphology, Intracranial hemorrhage, Diffuse reticular or finely no... ORPHA:1163
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Short stature, Premature birth, Abnormality of th... ORPHA:3268
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, High palate, Atrial septal defect, Ecchymosis, Abnormal duodenum morphology, Tricu... OMIM:601776
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Mitral valve prolapse, Mitral regurgitation, Short pal... ORPHA:3238
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Short statur... ORPHA:140952
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal le... ORPHA:2041
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, N... ORPHA:980
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Absent fetal nasal bone, Respiratory... OMIM:608022
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Overlapping toe, Ventricular septal defect, Microcephaly, Partial agenesis o... OMIM:617478
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Brachycephaly, Widely spaced teeth, High ... OMIM:612474
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus tot... OMIM:609008
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Widely spaced teeth, Cough, Microdontia, Short stature, Split hand, Gingival ov... ORPHA:579
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Atelosteogenesis, Type Ii
Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Cleft p... OMIM:256050
Combined Oxidative Phosphorylation Deficiency 17
Microcephaly, Postnatal growth retardation, Congestive heart failure, Intrauterine growth retarda... OMIM:615440
Prune Belly Syndrome
Congenital hip dislocation, Atrial septal defect, Vesicoureteral reflux, Multicystic kidney dyspl... ORPHA:2970
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Downturned corners of mouth, High palate, Widely spaced teeth, I... OMIM:300868
Achondrogenesis
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Micromelia, Polyhydramnios, Hy... ORPHA:932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ma... OMIM:613155
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Hypospadias, Ventricular septal defect, Short stature, Pyloric stenosis, Patent ... OMIM:218350
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle... OMIM:308050
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Hypoplasia of penis, Neonatal respiratory distress, Short stature, Camptodacty... ORPHA:2990
Tarp Syndrome
Apnea, Single transverse palmar crease, Glossoptosis, Atrial septal defect, Finger syndactyly, Te... ORPHA:2886
Mitral Valve Prolapse 1
High, narrow palate, Mitral regurgitation, High palate, Mitral valve prolapse OMIM:157700
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fe... ORPHA:1041
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... OMIM:615996
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... OMIM:210710
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Increased urine succinate level, Apnea, Congestive heart failure, Bradyc... OMIM:619048
Cutis Laxa, Autosomal Recessive, Type Ic
Single transverse palmar crease, Periorbital edema, Rectal prolapse, Multiple bladder diverticula... OMIM:613177
Frontonasal Dysplasia 1
Pericallosal lipoma, Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, ... OMIM:136760
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly, Everted low... OMIM:249670
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... OMIM:615113
Tetrasomy 9P
Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5t... ORPHA:3310
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt... ORPHA:2935
Marfan Syndrome
Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Increased axial length of the globe, H... OMIM:154700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypoplasia of the brainstem, Widely spaced teeth, Micropenis, Hypospadias, Cleft soft palate, Sho... ORPHA:268261
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi... OMIM:271640
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Bresek Syndrome
Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Postaxial... ORPHA:85284
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... OMIM:300166
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Nonimmune hydrops fetalis, Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Pulmonary hyp... OMIM:613124
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Pierpont Syndrome
Short stature, Microcephaly, Short toe, Broad palm, Brachycephaly, Micropenis, Short foot, Broad ... OMIM:602342
Meckel Syndrome
Ureteral duplication, Anophthalmia, Urethral atresia, Dandy-Walker malformation, Encephalocele, M... ORPHA:564
Achondrogenesis, Type Ii
Frontal bossing, Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe... OMIM:200610
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Thin upper lip vermilion, Atrial septal defect, Ventricul... ORPHA:401935
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Hypertension, Mit... OMIM:173900
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Bicuspid aortic valve, Ventr... OMIM:617751
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Ulnar deviation of the hand, ... OMIM:614175
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Frontal bossing, Ventriculomegaly, Short stature, Microcephaly, Deep philtrum, Patent ductus arte... OMIM:617260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... OMIM:610978
Catel-Manzke Syndrome
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... OMIM:616145
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop... ORPHA:538
Charge Syndrome
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Holoprosencephaly, ... ORPHA:138
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrops fetalis, Dehydration, Intrauterine growth retar... ORPHA:79282
Chondrodysplasia, Blomstrand Type
Premature birth, Micromelia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysi... OMIM:215045
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Brachycephaly, Downturned corners of mouth, High pala... OMIM:605627
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Epiphyseal stippling, Colpocephaly, Neonatal death, Pachygyria OMIM:614870
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Ventricular septal defec... OMIM:145420
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Proximal placement of thumb, High, narrow palate, Deep philtrum, B... ORPHA:435638
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arte... ORPHA:137667
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Microcephaly, Postnatal growth retardation, Cong... ORPHA:90348
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrocephalus, Hydrops fetalis, Oligohydr... ORPHA:163596
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened ribs, Brachycephaly, Oligosacchariduria, Cortical thickeni... ORPHA:309282
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral valve prolapse, Ascites,... ORPHA:2848
Sandestig-Stefanova Syndrome
Decreased fetal movement, Rocker bottom foot, Primary microcephaly, Muscular ventricular septal d... OMIM:618804
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Edema, Myocar... ORPHA:81
Yunis-Varon Syndrome
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Flat o... OMIM:216340
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Atrial septal defect, Abnormal bleeding, Patent ductus arter... OMIM:614576
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Single transverse palmar crease, Edema, High palate, Arachnodactyly,... OMIM:618348
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Decreased fetal movement, Neonatal respiratory distress, Premature birth, Secundum atrial septal ... OMIM:616866
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Polyhydramnios, High palate, Atrial septal defect, Vesicoureteral reflux, L... OMIM:614080
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Polyhydramnios, Ectopic kidney, Abnormality of the ... ORPHA:887
Adams-Oliver Syndrome
Porencephalic cyst, Pulmonary artery atresia, Encephalocele, Finger syndactyly, Premature birth, ... ORPHA:974
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Decreased fetal movement, Internally rotated shoulders, Dental... OMIM:617468
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Brachycephaly, Downturned corners of mouth, High palate, Atrioventricular canal def... OMIM:613792
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Brachycephaly, Narrow greater sciatic notch, Neonatal death, Short tibia, M... OMIM:617925
Raine Syndrome
Cerebral calcification, Micromelia, Brachycephaly, High palate, Microdontia, Neonatal death, Long... OMIM:259775
Feingold Syndrome 2
Ventricular septal defect, Short stature, Short middle phalanx of the 2nd finger, Short thumb, Po... OMIM:614326
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal de... OMIM:300855
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Lateral v... OMIM:618914
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Ectopic kidney, Secondary microcephaly, Cerebellar hypoplasia, Neonata... OMIM:613730
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Ventricular septal defect, Single transverse palmar crease, Deep philtr... OMIM:619717
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Intestinal perforation, Abnormal lung morphology, Osteolysis involving bo... ORPHA:464321
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Short stature, Microcep... OMIM:612946
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Fg Syndrome Type 1
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Atrial septal defect,... ORPHA:93932
Maternal Uniparental Disomy Of Chromosome X
Short stature, Camptodactyly of finger, Rocker bottom foot, Microcephaly, Predominantly lower lim... ORPHA:261519
Achondroplasia
Respiratory distress, Polyhydramnios, Bowing of the legs, Femoral bowing, Premature rupture of me... OMIM:100800
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Absent septum pellucidum, Optic nerve hypoplasia... OMIM:609053
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Congenital Toxoplasmosis
Cerebral calcification, Premature birth, Cardiomegaly, Microcephaly, Hydrocephalus, Microphthalmi... ORPHA:858
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a... OMIM:231060
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Ventricular septal defect, Short stature, Microcephaly, Short th... ORPHA:391646
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnios, Deep philtrum, Abnor... ORPHA:96334
Multiple Pterygium Syndrome, X-Linked
Edema, Cleft upper lip, Polyhydramnios, Fetal akinesia sequence, Cleft palate, Thin ribs, Pulmona... OMIM:312150
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tricuspid regurgitation, Short stature, Tapered finger, Microcephaly, Tooth malposition, Wide mou... OMIM:619576
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Abnormality of the kidney, Edema, Protruding tongue, Respi... ORPHA:93400
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Multicystic kidney dy... ORPHA:2092
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Mandibuloacral Dysplasia Progeroid Syndrome
Brachycephaly, Palmoplantar hyperkeratosis, High palate, Short philtrum, Patent foramen ovale, Tr... OMIM:619127
Congenital Myopathy 8
Reduced vital capacity, Cardiomegaly, Congestive heart failure, Respiratory insufficiency, High p... OMIM:618654
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau... OMIM:272950
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Cardiomegaly, Macrocephaly OMIM:300886
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Aortic regurgitation, Abnormal ... ORPHA:85438
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Cerebral calcification, Metaphyseal widening, Atrial septal defect, Nephrit... OMIM:617303
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Premature birth, Un... ORPHA:2260
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Clinodactyly of the 5th ... OMIM:612582
Glycogen Storage Disease Iv
Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops f... OMIM:232500
Distal Deletion 10Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad... ORPHA:96148
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Achondrogenesis Type 2
Short stature, Micromelia, Edema, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossificat... ORPHA:93296
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Anophthalmia, Epispadias, Agenesis of corpus callosum, Abnormality of the a... ORPHA:2556
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Jacobsen Syndrome
Pachygyria, Agenesis of corpus callosum, Long hallux, Abnormality of the anus, Long philtrum, Bro... ORPHA:2308
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Rib osteolysis, Atherosclerosis, Cavum septum pellucidum... OMIM:614008
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Bilateral single transverse palmar creases, Ventricular septal defect, Renal agenesis, Microcepha... ORPHA:2516
Orofaciodigital Syndrome Xvii
Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Par... OMIM:617926
Syndromic Diarrhea
Aortic regurgitation, Villous atrophy, Gastritis, Bicuspid aortic valve, Ventricular septal defec... ORPHA:84064
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... ORPHA:85166
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Decreased fetal movement, Ventricular septal defect, Respirator... OMIM:253300
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short philtrum, High... OMIM:619475