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Gene: Pcnt MGI:102722

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Gene Summary

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

Order Alleles

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.

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

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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

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac wing, Atrial sept... ORPHA:2637
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... OMIM:210720
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Microcephaly, Short stature, Con... ORPHA:808

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
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Ventricu... OMIM:206900
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Hydrocephalus, Patent ductus arteriosus, Alveolar r... OMIM:612938
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Apnea, Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia stri... OMIM:300373
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Disproport... ORPHA:1354
Sandhoff Disease
Congestive heart failure, Cherry red spot of the macula, Recurrent respiratory infections, Macroc... ORPHA:796
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, Rocker bottom foot, 4-layered lissencephaly, Dolich... ORPHA:89844
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Microcephaly, Narro... ORPHA:3469
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Porencephalic cyst, Microcephaly ORPHA:254351
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Brachycephaly, Stroke-like episode, Abnormal heart morphology, Respirat... ORPHA:70472
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Decreased fetal movement, Edema, Microcephaly, Pericardial effusion, Hip disloca... OMIM:608776
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent du... OMIM:618652
8Q24.3 Microdeletion Syndrome
Respiratory distress, Branchial cyst, Congenital hip dislocation, Single transverse palmar crease... ORPHA:508488
Fanconi Anemia, Complementation Group O
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ... OMIM:613390
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios OMIM:619887
Mpdu1-Cdg
Parietal bossing, Ventriculomegaly, Thin vermilion border, Renal cortical cysts ORPHA:79323
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Ventricular septal defect, Single tra... OMIM:618950
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Macrocephaly OMIM:614651
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Dental crowding, Ventricular septal defect, Dolichocepha... ORPHA:79329
Atelosteogenesis Type Ii
Micromelia, Polyhydramnios, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ul... ORPHA:56304
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Frontal bossing, Short metacarpal, Ventricular septal defect, Short stature, Crani... ORPHA:166035
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis, Trigonocephaly, Craniosynostosis, Cleft palate, Thin ri... OMIM:618265
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Trisomy 18
Holoprosencephaly, Atrial septal defect, Bilateral single transverse palmar creases, Short statur... ORPHA:3380
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... OMIM:600987
Aneurysm-Osteoarthritis Syndrome
High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial tortuosity, Patent ... ORPHA:284984
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi... OMIM:620300
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Micromelia, Holoprosencephaly, Aplasia/Hypoplasia of the cerebel... ORPHA:1908
Greenberg Dysplasia
Micromelia, Beaded ribs, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Tetraphocomelia... OMIM:215140
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Intracranial... ORPHA:449285
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tented upper lip vermilion, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen... OMIM:619424
Triploidy
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Polyhydramnios, Hydr... ORPHA:3376
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Short stature, Congestive heart failure, Abnormal motor neuron mor... ORPHA:52430
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, 3-Methylglutaconic aciduria, Pulmonary hypoplasia, Cerebellar hypoplasia, Neonatal death OMIM:615228
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Thickened nuchal skin fold, Tricuspid regurgitation, Short femur, Cardiomeg... OMIM:620306
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventriculomegaly, Ventricular septal defect, Single transverse pal... ORPHA:79243
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Tricuspid regurgitation, Arachnodactyly, Long fingers, H... ORPHA:284979
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal v... OMIM:616589
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Postaxial hand polydactyly, Hydrocephalu... ORPHA:2075
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Relative macrocephaly, Atrial septal defect, Duplicated collecting system, ... OMIM:607721
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Oliguria, Heart murmur, Stroke, B... ORPHA:1054
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Abnormality of the hypothal... ORPHA:139471
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Frontal bossing, Dental crowding, 2-3 toe syndactyly, Narrow pa... ORPHA:313892
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Abnormal hand morphology, Moyam... OMIM:300845
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Ventriculomegaly, Short stature, Proximal placement of thumb, Limited e... OMIM:300590
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly, Brachycephaly, High palate, Widely... ORPHA:66625
Pierpont Syndrome
Thin upper lip vermilion, Ventriculomegaly, Abnormal cortical gyration, Short toe, Brachycephaly,... ORPHA:487825
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Spondylodysplastic Ehlers-Danlos Syndrome
Single transverse palmar crease, Lymphedema, Metaphyseal widening, Abnormal finger morphology, At... ORPHA:536471
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arter... ORPHA:2847
Achondrogenesis, Type Ib
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Breech presentation, Hydrops fetalis, Respir... OMIM:600972
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Short stature, Congestive heart failure, ... OMIM:255160
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Congestive heart failure, Short long bone, Stillb... OMIM:619751
Tetrasomy 15Q26
Arachnodactyly, Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidne... OMIM:614846
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Tibial bowing, Lobulated tongue, High palate, A... OMIM:277170
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal dental pulp mor... ORPHA:363700
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ... OMIM:263630
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Frontal bossing, Thickened ribs, Short stature, Heparan sulfate excretion i... OMIM:252940
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Deep philtrum, Recurrent pneumonia, Asthma, Mitral regurgitation, High palate, Mac... OMIM:619750
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... OMIM:612284
Roifman Syndrome
Hip contracture, Short metacarpal, Thin upper lip vermilion, Noncompaction cardiomyopathy, Single... OMIM:616651
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Abnormal cardiac septum morpho... ORPHA:1937
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Absent thumb, Esophageal atresi... OMIM:300514
Fanconi Anemia
Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Atri... ORPHA:84
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Frontal bossing, Short stature, Delayed epiphyseal ossification, Triangular mouth, Cerebral atrop... ORPHA:166024
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Short stature, Protruding tongue, Secundum atrial septal defect, Congestive h... OMIM:608779
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... ORPHA:2712
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Microcephaly... OMIM:224410
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Tented upper lip vermilion, Cerebellar vermis hypoplasia, Single transverse palmar crease, Bicusp... OMIM:619720
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, High palate, Atrial septal defect, Parieta... OMIM:619343
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, ... OMIM:620135
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Short stature, Sudden cardiac death, Spina bifida, M... ORPHA:991
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip... ORPHA:392
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Nephritis, S... OMIM:208500
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Schneckenbecken Dysplasia
Polyhydramnios, Snail-like ilia, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Flat aceta... OMIM:269250
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Cleft upper lip, Hydrocephalus, Cleft palate, Intracranial hemorrhage ORPHA:398189
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... OMIM:610198
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Optic Atrophy 8
Mitral regurgitation, Mitral valve prolapse OMIM:616648
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Micr... OMIM:219000
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Intracranial hemorrhage, High pal... ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... OMIM:613153
Orofaciodigital Syndrome V
Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Pos... OMIM:174300
8P23.1 Duplication Syndrome
Toe syndactyly, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtr... ORPHA:251076
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Hypoplasia of the brainstem, Abnormal periventricular white matter morphol... ORPHA:500159
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Polyhydramnios, Neonatal short-limb short stature, Severe limb ... OMIM:151210
Brain Small Vessel Disease 2
Schizencephaly, Porencephalic cyst, Intracranial hemorrhage, Growth delay, Polymicrogyria, Ventri... OMIM:614483
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Short stature, Single transverse palmar crease, Cam... ORPHA:915
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata... OMIM:305600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... ORPHA:49827
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis ORPHA:65282
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... ORPHA:1507
Hennekam Syndrome
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, H... ORPHA:2136
Megabladder, Congenital
Multiple glomerular cysts, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Meacham Syndrome
Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Congenital alveola... OMIM:608978
Sialidosis Type 2
Short stature, Dyspnea, Hydrops fetalis, Pedal edema, Umbilical hernia, Nephropathy, Ascites ORPHA:87876
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprose... ORPHA:2117
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Ventricular septal defect, Micromelia, Microcephaly, Abnormal rib morphology... ORPHA:2772
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventriculomegaly, Ventricular septal defect, Premature birth, Postaxial poly... OMIM:219730
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Dental malocclusion, Restrictive ventilatory defect, Mi... OMIM:617258
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, A... ORPHA:99094
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Multifocal hyperintensity of cerebral white matter on MRI, Transient ischemic attack, Cerebral he... ORPHA:136
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Multiple Pterygium Syndrome, Lethal Type
Edema, Polyhydramnios, Fetal akinesia sequence, Cleft palate, Thin ribs, Pulmonary hypoplasia, Hy... OMIM:253290
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Polydactyly, Bra... OMIM:615982
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal bleeding, Epidural hemorrhage, Abnormal pelvis bone morphol... ORPHA:464329
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Abnormal pericardium morphology, Pne... ORPHA:2357
2Q24 Microdeletion Syndrome
Central apnea, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalan... ORPHA:1617
Oculocerebrorenal Syndrome Of Lowe
Flat occiput, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, D... ORPHA:534
Beckwith-Wiedemann Syndrome
Nephroblastoma, Cardiomegaly, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macrogloss... OMIM:130650
Axial Mesodermal Dysplasia Spectrum
Short stature, Premature birth, Renal hypoplasia/aplasia, Missing ribs, Hydrocephalus, Abnormalit... ORPHA:1834
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Premature birth, Intrauterine growth retardation OMIM:301021
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Short stature, Micromelia, Craniosynostosis, Abnormality of the ... ORPHA:2145
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral calcification, Cerebral cavernous malformation OMIM:116860
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelecta... OMIM:620233
Schimke Immuno-Osseous Dysplasia
Microdontia, Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuria, Short sta... ORPHA:1830
Vacterl With Hydrocephalus
Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Esopha... ORPHA:3412
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Preax... ORPHA:380
Camurati-Engelmann Disease, Type 2
Hip contracture, Mitral regurgitation, Delayed puberty, Mitral valve prolapse OMIM:606631
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, Microcephaly, Brachycephaly, High palate, Transposition o... ORPHA:1913
Femoral-Facial Syndrome
Coxa vara, Orofacial cleft, Aplasia/Hypoplasia of the tibia, Short stature, Long penis, Abnormal ... ORPHA:1988
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios, Respiratory insufficiency OMIM:215550
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, Dilated cardi... OMIM:212112
Marden-Walker Syndrome
Epispadias, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology, Multicystic kidn... ORPHA:2461
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Sim... OMIM:616171
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Edema of the dor... OMIM:274000
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Bohring-Opitz Syndrome
Polyhydramnios, Hypoplasia of the brainstem, Vesicoureteral reflux, Atrial septal defect, Agenesi... OMIM:605039
Gaucher Disease, Perinatal Lethal
Respiratory distress, Decreased fetal movement, Everted upper lip vermilion, Ventriculomegaly, Ap... OMIM:608013
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia, Anhydramnios OMIM:615721
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Polyhydramnios, Microcephaly, Facial edema, Partial agenesis of the corpus call... ORPHA:86822
Seckel Syndrome 2
Hypospadias, Short stature, Microcephaly, Ectopic kidney, Heart murmur, Growth delay, Cerebellar ... OMIM:606744
Diamond-Blackfan Anemia 1
High palate, Triphalangeal thumb, Atrial septal defect, Spina bifida occulta, Short stature, Prem... OMIM:105650
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Microcephaly, Postnatal growt... ORPHA:2728
Lymphatic Malformation 13
Chronic lung disease, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal peri... OMIM:620244
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Gaucher Disease, Type I
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary infiltrates, Hypertensi... OMIM:230800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Anophthalmia, Camptodactyly of finger, Dolichocephaly, High, narrow pala... ORPHA:1101
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Edema, Simplified gyral pattern, High palate, Pachygyria, Arachnodac... OMIM:617729
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philtrum, Microphal... OMIM:618454
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Porencephalic cyst, Renal cyst, Anter... OMIM:117650
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Microcephaly, Unilateral renal a... OMIM:616362
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Urinary incontinence, Tibial bowing, Femoral bowing, Neonatal death, Rhizom... OMIM:616482
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short stature, Decreased fe... ORPHA:264200
Hydrolethalus Syndrome 1
Polyhydramnios, Abnormal lung lobation, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-... OMIM:236680
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Partial agenesis of the corpus callosum, High palate, Clinodactyly o... OMIM:620113
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Narrow greater ... OMIM:312870
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Scapular winging, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
Monosomy 18P
Short stature, Microcephaly, Carious teeth, Lymphedema, Brachycephaly, Cleft palate, Downturned c... ORPHA:1598
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Dolichocephaly, Radiou... ORPHA:3270
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Glomerulopathy, Abnormal p... ORPHA:183
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Split foot, Oligohydramn... OMIM:200980
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnoda... ORPHA:3342
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Hydrocephalus, Cer... ORPHA:97339
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Short stature, Radial club h... OMIM:617053
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Portal hypertension, Hepatic cysts, Situs inversus t... OMIM:208540
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynost... OMIM:252600
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Postaxial hand polydactyl... OMIM:615630
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contracture, Abnormality of the s... ORPHA:206546
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Ventriculomegaly, Polyhydramnios, Renal cortical cysts, Downturned corn... OMIM:618548
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Frontal bossing, Midface retrusion, Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, ... OMIM:619721
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Renal insufficiency, Generalized edema, Crackles, Excessive bleeding... ORPHA:319213
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n... OMIM:122470
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery at... OMIM:616894
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr... OMIM:615398
Atelosteogenesis Type I
Short femur, Rhizomelia, Polyhydramnios, Malrotation of colon, Abnormal ossification involving th... ORPHA:1190
S-Adenosylhomocysteine Hydrolase Deficiency
Microcephaly, Hypoplasia of the pons, Abnormality of the dentition, Hydrops fetalis, Growth delay... ORPHA:88618
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Decreased fetal movement, Hypospadias, Polyhydramnios, Atelectasis, Glandul... OMIM:300219
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy, Arterial stenosis ORPHA:820
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Frontal bossing, Recurrent respiratory infections, Rhizomelia, Micromelia,... ORPHA:1842
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Sandal gap, Arachnodactyly, Short stature, Microcephaly, Thick lower li... OMIM:616938
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, A... OMIM:166210
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Leukoencephalopathy, Oligohydramnios, Macroglossia, Tali... ORPHA:79325
Congenital Rubella Syndrome
Ventricular septal defect, Short stature, Microcephaly, Patent ductus arteriosus, Aplasia/Hypopla... ORPHA:290
Bardet-Biedl Syndrome 5
Syndactyly, Micropenis, Polydactyly, Brachydactyly OMIM:615983
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Overlapping toe, Short stature, Microceph... OMIM:600118
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Cleft palate, Ulnar d... ORPHA:921
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Stuve-Wiedemann Syndrome 1
Apnea, Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia... OMIM:601559
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... OMIM:610759
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Downturned corners of mouth, Wide mout... OMIM:611816
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hydrocephalus, Cortical dysplasi... OMIM:613001
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Glomerulopa... ORPHA:117
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Vasculitis in the skin, Recurrent lower respiratory trac... OMIM:620321
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Cleft palate, Hydranencephaly... OMIM:601355
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Polyhydramnios, Prea... OMIM:615503
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Cleft upper lip,... OMIM:610829
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Abnormali... OMIM:301500
Heart And Brain Malformation Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios,... OMIM:616920
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Acrocardiofacial Syndrome
Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cleft upper lip, Split... ORPHA:2008
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Narrow mouth, Deep philtrum, ... ORPHA:261120
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Thin upper lip vermilion, Toe syndactyly, Arachnodactyly... ORPHA:505237
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oligodontia, Short palm, Atrial septal defect, Patent foramen ovale, Hypospadias... OMIM:619184
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en... ORPHA:1528
Inverted Duplicated Chromosome 15 Syndrome
Frontal bossing, Ventricular septal defect, Unilateral renal agenesis, Microcephaly, 2-3 toe synd... ORPHA:3306
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Renal hypoplasia/apl... ORPHA:2549
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,... ORPHA:84090
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Atrial septal defect, Abnormality of the hand, Frontal encephalocele, D... ORPHA:521308
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Growth delay, Uraciluria, Microphthalmia, Agenesis of corpus call... OMIM:274270
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short stature, Macrocephaly ORPHA:238446
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Single transverse palmar crease, Downturned corners of mouth, Atrial septa... ORPHA:329224
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Clinodactyly of the 5th finger, Microdo... OMIM:194050
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Polyhydramnios, Preaxial polydactyly, Tibial bowing,... OMIM:612651
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Microcephaly, Renal hypoplasia/apla... ORPHA:1046
Kapur-Toriello Syndrome
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ... OMIM:244300
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Respirat... OMIM:615731
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Polyhydramnios, Missing ribs, Hydrocephalus,... ORPHA:3301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Polyhydramnios, Abnormal lung lobation, Orofacial cleft, Holoprosencephaly, ... ORPHA:2166
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short st... OMIM:600325
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Jeune Syndrome
Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Abnor... ORPHA:474
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... OMIM:607323
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Cortical dysplasia, Atrial septal defect, Pachygyria, Encephalocele, Cleft... OMIM:100300
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Short philtrum, Atrial septa... OMIM:617360
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Left ventricular noncompaction cardiomyopathy, Reduced cerebral white matter volume, Cardi... OMIM:620167
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent... OMIM:540000
Joubert Syndrome 7
Encephalocele, Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydacty... OMIM:611560
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Patent ductus art... ORPHA:2123
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Oral ulcer, Hypertensive crisis OMIM:301080
Fanconi Anemia, Complementation Group F
Atrial septal defect, Short stature, Pneumonia, Polyhydramnios, Absent thumb, Microcephaly, Short... OMIM:603467
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Decreased fetal movement, Premature birth, Polyhydramnio... ORPHA:292
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Cleft lip, Pul... OMIM:611812
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Short st... ORPHA:2311
Schinzel-Giedion Syndrome
Respiratory distress, Abnormality of the gingiva, Renal cyst, Tibial bowing, Anteriorly placed an... ORPHA:798
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Respiratory insufficiency, ... ORPHA:746
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypertension... ORPHA:90065
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Cerebral calcification, Cardiomegaly, Heart block, High, narrow pal... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 21
Ventriculomegaly, Short stature, Single transverse palmar crease, Microcephaly, Patent ductus art... OMIM:615502
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Joubert Syndrome 2
Encephalocele, Frontal bossing, Renal insufficiency, Agenesis of cerebellar vermis, Central apnea... OMIM:608091
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndac... OMIM:614701
Neu-Laxova Syndrome
Cerebral calcification, Micromelia, Polyhydramnios, Pachygyria, Bifid uvula, Dandy-Walker malform... ORPHA:2671
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Long p... ORPHA:280679
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Hypoplasia of the pons, Occipital cortical atrophy, Thick... ORPHA:411986
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Frontal bossing, Atrial septal defect, Bicuspid aortic valve, Patent du... OMIM:619149
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Resp... OMIM:255320
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Decreased fetal movement, Polyhydramnios OMIM:616794
Beta-Mercaptolactate Cysteine Disulfiduria
Frontal bossing, Sandal gap, Arachnodactyly, Micromelia, Short stature, Abnormality of the ureter... ORPHA:1035
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... ORPHA:52056
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... OMIM:618821
Robinow Syndrome
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Webbed penis, Mi... ORPHA:97360
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Decreased fetal movement, Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Microcep... ORPHA:2570
Cat Eye Syndrome
Atrial septal defect, Vesicoureteral reflux, Short stature, Patent ductus arteriosus, Total anoma... OMIM:115470
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping ... OMIM:300863
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Fetal akinesia sequence, High, narrow palate, High palate, Cavum septum pellucidu... OMIM:208150
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Frontal bossing, Bicuspid aortic valve, Short stature, Polyhydramnios, Microcephaly, Postnatal gr... OMIM:613563
Chromosome 5Q12 Deletion Syndrome
Long toe, Frontal bossing, Ventricular septal defect, Postnatal growth retardation, Long fingers,... OMIM:615668
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short stature, Tricuspid stenosis, Respiratory insufficiency, Mitral va... OMIM:614185
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Single tran... OMIM:300998
Cardiospondylocarpofacial Syndrome
Atrial septal defect, Decreased fetal movement, Ventricular septal defect, Tarsal synostosis, Sho... OMIM:157800
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Prena... ORPHA:45453
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micro... OMIM:617866
Alagille Syndrome
Hypoplasia of the ulna, Frontal bossing, Atrial septal defect, Telangiectasia of the skin, Ventri... ORPHA:52
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Short stature, Macrocephaly, Narrow mouth, ... ORPHA:261295
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Renal cyst, High palate, Vesicoureteral ref... OMIM:616975
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Ventricular septal defect, Minimal chan... OMIM:616730
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Short stature, Patent ductus arterios... OMIM:619189
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Short stature, Submucous cleft hard palate, Cleft palate, Growth delay, Thick ve... ORPHA:250999
Renal Agenesis
Renal insufficiency, Proteinuria, Ventricular septal defect, Unilateral renal agenesis, Renal age... ORPHA:411709
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Hydranencephaly, Cerebral calcification, Ventricular septal defect,... ORPHA:1393
Joubert Syndrome 5
Central apnea, Occipital encephalocele, Agenesis of cerebellar vermis, Episodic tachypnea, Aplasi... OMIM:610188
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Short fifth metatarsal, Tricuspid regurgitation, 2-3 toe syndactyly, Sin... OMIM:261990
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Agenesis of corpus call... OMIM:227646
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Moderate Hemophilia A
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Prolonged b... ORPHA:169805
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Polyhydramnios, Clinodactyly of the 5th finger, Cavum septum pel... OMIM:247200
Developmental And Epileptic Encephalopathy 96
Neonatal respiratory distress, Hydrops fetalis, Primary microcephaly OMIM:619340
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... OMIM:619472
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly OMIM:615991
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis,... ORPHA:2879
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Ventricular sept... OMIM:617452
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Narrow mouth, Brachycephaly, Short foot, Everted... ORPHA:228399
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Anterio... OMIM:618624
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Stevenson-Carey Syndrome
Atrial septal defect, Recurrent urinary tract infections, Central hypoventilation, Pierre-Robin s... OMIM:611961
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Proximal upper limb muscle hypertrophy, Right bundle branch block, Pulmonary fibrosi... ORPHA:254361
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radia... OMIM:265000
Thoracoabdominal Syndrome
Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal... OMIM:313850
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Turricephaly, Craniosynostosis, Renal agen... ORPHA:171839
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Brachycephaly, Atrial septal defect, Bifid uvula, Dandy-Walker malformation... OMIM:300968
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Ectopic kidney, Vesicoureteral reflux, Agenesis of corpus ... OMIM:164210
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pneumonia, Oligosacchariduria, Macroglossia, Subcortical cerebral atrophy, ... ORPHA:309288
Alkuraya-Kucinskas Syndrome
Edema, Hypoplasia of the brainstem, High palate, Micropenis, Dandy-Walker malformation, Pericardi... OMIM:617822
Cardiac-Urogenital Syndrome
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Oliv... ORPHA:370959
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Infant Acute Respiratory Distress Syndrome
Tachycardia, Premature birth, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis... ORPHA:70587
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Cerebral calcification, Intestinal malrotation, Aqueduct... ORPHA:3035
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney... ORPHA:195
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Bilateral micropht... ORPHA:369891
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... ORPHA:60032
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Carious teet... OMIM:214150
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Frontal bossing, Tricuspid regurgitation, Dextrocardia, Macrocephaly, C... OMIM:618929
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Thin upper lip vermilion, Villous atrophy, Pericarditis, Cerebellar ver... OMIM:212065
Classic Multiminicore Myopathy
Short stature, Right ventricular failure, Intermittent episodes of respiratory insufficiency due ... ORPHA:324604
Cerebrofacioarticular Syndrome
Irregular dentition, Cerebellar vermis hypoplasia, Lymphedema, Anteriorly placed anus, Agenesis o... ORPHA:314679
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ... OMIM:263200
Esophageal Atresia
Respiratory distress, Bronchitis, Polyhydramnios, Clinodactyly, Aspiration, Barrett esophagus, Cl... ORPHA:1199
Intellectual Disability-Strabismus Syndrome
Atrial septal defect, Hypospadias, Rocker bottom foot, Short stature, Abnormality of the dentitio... ORPHA:363528
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Cerebellar vermis hypoplasia, Short stature, Rocker bottom foot, Urinar... OMIM:620070
Chromosome 9P Deletion Syndrome
High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Long toe, Hypo... OMIM:158170
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Myopathy 17
Ureteropelvic junction obstruction, Tented upper lip vermilion, Overlapping toe, Polyhydramnios, ... OMIM:618975
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Oligosaccharidur... ORPHA:365
Pallister-Hall Syndrome
Ectopic kidney, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Micropenis, Atri... ORPHA:672
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Op... OMIM:620025
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Atrial sep... ORPHA:289
Babesiosis
Renal insufficiency, Myocardial infarction, Congestive heart failure, Recurrent pharyngitis, Resp... ORPHA:108
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Pyloric steno... ORPHA:261197
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Thin upper lip vermilion, Neonatal respiratory distress, Ventricular septal defect, Intestinal ma... ORPHA:457193
Peters Plus Syndrome
Ureteral duplication, Micromelia, Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Abnorm... ORPHA:709
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, P... OMIM:617809
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akine... ORPHA:367
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... ORPHA:3405
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Frontal bossing, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality... ORPHA:163966
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Frontal bossing, Tented upper lip vermilion, Broad hallux... OMIM:614105
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal renal tubule morphology, Abnormal atrioventri... ORPHA:732
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Dental crowding, Abnormal heart valve morphology, Short stature, Dolicho... ORPHA:228410
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Edema, Short metatarsal, Renal cyst, Widely spaced teeth, High palate, Neph... OMIM:266920
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Missing ribs, Abnormal... ORPHA:3027
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Hydrops fetalis, Renal cyst, Short palm, Agenesis of corpus call... ORPHA:93271
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Aplasi... OMIM:216360
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Brachycephaly, ... ORPHA:272
Temtamy Syndrome
Dolichocephaly, Short toe, Thick lower lip vermilion, Genu varum, Aplasia/Hypoplasia of the corpu... ORPHA:1777
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... OMIM:200990
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Preaxial polydactyly, Finger clinodactyl... ORPHA:2754
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Downt... OMIM:618974
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Probo... ORPHA:141099
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... ORPHA:2753
Butyrylcholinesterase Deficiency
Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation... ORPHA:132
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Intrauterine growth retardation, Pulmonary arterial hypertension, Micro... OMIM:616045
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
2Q31.1 Microdeletion Syndrome
Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, Clinodactyly o... ORPHA:251014
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
16P13.11 Microduplication Syndrome
Arachnodactyly, Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Hand polydacty... ORPHA:261243
Pentasomy X
Short stature, Camptodactyly of finger, Microcephaly, Patent ductus arteriosus, Small hand, Short... ORPHA:11
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Pseudo-Torch Syndrome 3
Cerebral calcification, Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Premature birth, R... OMIM:618886
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... OMIM:615771
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Intracranial hemorrhage, Stil... ORPHA:85212
Farber Disease
Respiratory distress, CNS foam cells, Short stature, Abnormality of the hand, Nodular pattern on ... ORPHA:333
Joubert Syndrome 16
Encephalocele, Renal cyst, Polydactyly, Nephronophthisis, Dandy-Walker malformation OMIM:614465
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Solitary Median Maxillary Central Incisor
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Coloboma, Micropht... OMIM:147250
Autosomal Recessive Amelia
Hypoplasia of penis, Polyhydramnios, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia o... ORPHA:1027
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Craniofrontonasal Dysplasia
Thickened nuchal skin fold, Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap,... ORPHA:1520
Cofs Syndrome
Cerebral calcification, Short stature, Camptodactyly of finger, Microcephaly, Everted lower lip v... ORPHA:1466
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Vesicour... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Vesicour... ORPHA:363958
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo... ORPHA:3078
Tetraploidy
Microcephaly, Renal hypoplasia/aplasia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the... ORPHA:3305
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Combined Oxidative Phosphorylation Deficiency 11
Renal dysplasia, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Cardiomyopath... OMIM:614922
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Atrial septal defect, Clinodactyly of the 5th finge... OMIM:257920
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Marshall-Smith Syndrome
Irregular dentition, Apnea, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Gl... OMIM:602535
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Postaxial polydactyl... ORPHA:404440
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
3Q29 Microdeletion Syndrome
Dental crowding, Hypospadias, Tapered finger, Abnormality of the dentition, Microcephaly, Patent ... ORPHA:65286
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ... OMIM:153400
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Short stature, Trigonocepha... OMIM:617159
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Dislocated radial head, Syndactyly... ORPHA:2839
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ... OMIM:616276
Degcags Syndrome
Polyhydramnios, Bilateral renal hypoplasia, High palate, Atrial septal defect, Intrauterine growt... OMIM:619488
Adams-Oliver Syndrome 2
Decreased fetal movement, Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral ... OMIM:614219
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... OMIM:610205
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Polyhydramnios, Cortical dysplasia, Tracheoesophageal fistula,... ORPHA:261272
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Short stature, Microcephaly, Patent ductus arteriosus, Hydrocephalus, C... OMIM:614886
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... OMIM:300707
Menkes Disease
Short stature, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Brachycephaly, Intracranial... OMIM:309400
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Abnorm... ORPHA:335
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Brachycephaly, Shoulder dislocation,... OMIM:245600
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Filippi Syndrome
Ventricular septal defect, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Pos... OMIM:272440
Zaki Syndrome
Dilated fourth ventricle, Toe syndactyly, Cerebellar vermis hypoplasia, Short stature, Renal agen... OMIM:619648
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Sonoda Syndrome
High axial triradius, Ventricular septal defect, Short stature, Narrow mouth OMIM:270460
Myhre Syndrome
Short philtrum, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Short stature, Pericard... OMIM:139210
Methanol Poisoning
Bilateral basal ganglia lesions, Myocardial infarction, Cerebral hemorrhage, Abnormal putamen mor... ORPHA:31825
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Burn-Mckeown Syndrome
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cleft upper lip, 2-3 toe syn... OMIM:608572
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis, Respiratory ins... OMIM:609015
Mend Syndrome
Thickened nuchal skin fold, Overlapping toe, Broad hallux, Short stature, Asymmetry of the mouth,... ORPHA:401973
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the up... ORPHA:2547
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec... ORPHA:453499
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag... OMIM:614749
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodac... OMIM:300963
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Hypospadias, Proximal placement ... OMIM:217980
Distal 22Q11.2 Microduplication Syndrome
High palate, Short philtrum, Biparietal narrowing, Camptodactyly of toe, Long philtrum, Branchial... ORPHA:261337
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Premature birth, Polyhydramnios, Megalencephaly, Thick lower lip vermilion, Wide mouth, Nephrocal... OMIM:611087
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Koolen-De Vries Syndrome
Bicuspid aortic valve, High palate, Widely spaced teeth, Vesicoureteral reflux, Prominent fingert... OMIM:610443
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Trigonocephaly, Microcephaly, Ventricular septal def... OMIM:618506
Seckel Syndrome 9
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased fetal movement, V... OMIM:616777
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Short stature, Orofacial cleft, Wide mouth, Lissencephaly, Secondary mi... OMIM:614583
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, High palate, Atrial septal defect, Agenesis of corp... OMIM:242840
Autosomal Recessive Cutis Laxa Type 1
Abnormal systemic arterial morphology, Multiple bladder diverticula, Vesicoureteral reflux, Emphy... ORPHA:90349
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Short stature, Meningocele, Renal cyst, Respiratory insufficiency, ... ORPHA:2031
Zygomycosis
Sinusitis, Periorbital edema, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neph... ORPHA:73263
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Multiple Acyl-Coa Dehydrogenase Deficiency
Scapular winging, Congestive heart failure, Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiores... ORPHA:26791
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, High p... OMIM:609625
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Hajdu-Cheney Syndrome
Downturned corners of mouth, Periodontitis, Long philtrum, Partial absence of toe, Hypospadias, S... ORPHA:955
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Sandal gap, Rocker ... OMIM:619951
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... OMIM:614249
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Short stature, Simplified gyral pattern, Cleft p... OMIM:614261
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Proteinuria, Hydrops fetalis, Nephrotic syndrome, Abnormality o... ORPHA:834
Ring Chromosome 21 Syndrome
Syndactyly, Short stature, Microcephaly, Small hand, Narrow palm, Abnormal heart morphology, Holo... ORPHA:1445
Cirrhotic Cardiomyopathy
Prolonged QT interval, Abnormal bleeding, Elevated jugular venous pressure, Pulmonary edema, Left... ORPHA:57777
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Decreased fetal movement, Microcephaly, Absence of renal cortic... OMIM:619758
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Frontal bossing, Ventricular sept... ORPHA:2256
2Q37 Microdeletion Syndrome
Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Bilateral single transve... ORPHA:1001
Kury-Isidor Syndrome
Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Rocker... OMIM:619762
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Jacobsen Syndrome
Atrial septal defect, Recurrent respiratory infections, Flat occiput, Hypospadias, Ventricular se... OMIM:147791
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Dental crowding, Abnormal lung lobation, Orofacial cleft, Uret... ORPHA:2052
Joubert Syndrome 3
Central apnea, Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypopl... OMIM:608629
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu... OMIM:617667
Severe Congenital Nemaline Myopathy
Decreased fetal movement, Hypospadias, Premature birth, Polyhydramnios, Edema of the dorsum of ha... ORPHA:171430
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Single transverse palmar crease, Glossoptosis, High palate, Rhizome... OMIM:611209
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Frontal bossing, Atrial septal defect, Sandal gap, Short stature, Microcephaly, Long fi... ORPHA:261279
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Respiratory insufficiency due to muscle weakness, Cardiomyopathy, Mitral regurgitation, Mitral va... OMIM:258450
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, Temporal cortical atrophy, 2-3 toe syn... OMIM:615665
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the cerebellar vermis, Postaxial ... ORPHA:75389
20Q13.33 Microdeletion Syndrome
Hallux valgus, Dilation of Virchow-Robin spaces, Hypospadias, Tapered finger, Abnormal cardiac ve... ORPHA:261311
Genitopatellar Syndrome
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Atrial septal defect, Micrope... OMIM:606170
6P22 Microdeletion Syndrome
Finger syndactyly, Patent ductus arteriosus, Hydrocephalus, Clinodactyly, Hydronephrosis, Abnorma... ORPHA:251046
Noonan Syndrome 11
Relative macrocephaly, Atrial septal defect, Short stature, Thick vermilion border, Pulmonic sten... OMIM:618499
Opitz-Kaveggia Syndrome
Dental crowding, Single transverse palmar crease, Partial agenesis of the corpus callosum, Anteri... OMIM:305450
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Cerebellar vermis hypoplasia, Hypospadias, Ventricular septal defect, Postnatal ... ORPHA:494344
Restrictive Dermopathy 1
Ureteral duplication, Spontaneous chorioamniotic separation, Polyhydramnios, Premature rupture of... OMIM:275210
Kabuki Syndrome 2
Natal tooth, Atrial septal defect, Short stature, Microcephaly, Postnatal growth retardation, Low... OMIM:300867
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Single transverse palmar crease, Polyhydramnios, High, nar... OMIM:180849
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Pelger-Huet Anomaly
Frontal bossing, Ventricular septal defect, Abnormality of the dentition, Upper limb undergrowth,... OMIM:169400
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Frontal bossing, Overlapping toe, Single transverse palmar crease, Abse... OMIM:613884
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cough, Atrial septal defect, Microdontia, Intrauterine growth retardation, Patent foramen ovale, ... OMIM:620005
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Relapsing Polychondritis
Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ... ORPHA:728
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalu... ORPHA:157
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le... OMIM:236110
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Vesicoureteral refl... ORPHA:444077
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Sotos Syndrome
Frontal bossing, Atrial septal defect, Decreased fetal movement, Ventricular septal defect, Abnor... OMIM:117550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Atrial septal defect, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Di... OMIM:253800
Insulin-Like Growth Factor I, Resistance To
High palate, Atrial septal defect, Patent foramen ovale, Long philtrum, Short stature, Narrow mou... OMIM:270450
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Cerebellar vermis hypoplasia, Broad hallux, Ventricular septal defect, Clinodac... OMIM:620073
Diaphanospondylodysostosis
Respiratory distress, Missing ribs, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple ... ORPHA:66637
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, High, narrow palate, Abnormal lung lobation, Brachycephaly, Renal cys... ORPHA:369837
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Short stature, Edema, Microcephaly, Congestive heart failure, Cleft palate, Upper li... ORPHA:2505
Dk1-Cdg
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... ORPHA:91131
Opitz Gbbb Syndrome
High palate, Vesicoureteral reflux, Atrial septal defect, Agenesis of corpus callosum, Patent for... ORPHA:2745
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, High, narrow palate, 2-3 toe sy... ORPHA:485405
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Cerebral Visual Impairment
Premature birth, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Intracranial hemorrhage, Ab... ORPHA:447788
Propionic Acidemia
Increased level of hippuric acid in urine, Apnea, Short stature, Cerebellar hemorrhage, Tachypnea... OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Phelan-Mcdermid Syndrome
Ventricular septal defect, Abnormality of the kidney, Palpebral edema, Microcephaly, Dolichocepha... OMIM:606232
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
White Forelock With Malformations
Finger syndactyly, Atrial septal defect, Deep philtrum, Abnormal rib morphology, Dolichocephaly, ... ORPHA:2475
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Hypoplasia of the pons, Deep philtrum, Oligosacchariduria, High palate, Atrial s... ORPHA:397709
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cerebral calcification, Medial calcification of large arteries, Edema, Card... ORPHA:51608
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Agenesis of corpus callos... OMIM:613091
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect... ORPHA:280633
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Overlapping t... OMIM:619383
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Abnormality of the kidney, Polyhydramnios, Microcephaly, Macrocephaly, Atrial se... ORPHA:466926
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Turricephaly, Aganglionic megacolon, Polyhydramnios, Tapered finger, Megalenceph... OMIM:613603
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate,... OMIM:615433
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Ventricular septal defect, Respiratory insufficiency due to muscle weak... OMIM:616816
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ... OMIM:617168
Al Kaissi Syndrome
Thin upper lip vermilion, Macrodontia, Short stature, Microcephaly, Postnatal growth retardation,... OMIM:617694
Gaucher Disease
Abnormal bleeding, Mitral valve calcification, Proteinuria, Abnormal pericardium morphology, Abno... ORPHA:355
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Polyhydramnios, High palate, Vesicoureteral reflux, Atria... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Polyhydramnios, High palate, Vesicoureteral reflux, Atria... ORPHA:353277
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Decreased palmar creases, Microcephaly, Narrow palm, Abnormal heart morphology, Sh... ORPHA:352490
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cerebrooculofacioskeletal Syndrome 4
Short stature, Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thumb, Flared ... OMIM:610758
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Hypoplasia of first ribs, Foot oligodactyly... OMIM:154400
Naxos Disease
Sudden cardiac death, Cleft upper lip, Congestive heart failure, Cardiomyopathy, Palmoplantar ker... ORPHA:34217
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Dandy... ORPHA:2750
Marfan Syndrome
Dental crowding, Limited elbow movement, High, narrow palate, Increased axial length of the globe... ORPHA:558
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Downturned corners of mouth, High palate, Atrial septal defect, Clinodactyly of ... OMIM:617602
Nabais Sa-De Vries Syndrome, Type 2
Frontal bossing, Multicystic kidney dysplasia, Polyhydramnios, Tapered finger, Bilateral cleft li... OMIM:618829
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal sh... ORPHA:85446
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Short stature, Microcephaly, Submucous cleft hard palate, Renal hypoplasia,... OMIM:617660
Down Syndrome
Prenatal double bubble sign, Single transverse palmar crease, Brachycephaly, Hypoplastic iliac wi... OMIM:190685
Zellweger Syndrome
Thickened nuchal skin fold, Multicystic kidney dysplasia, Flat occiput, Hypospadias, Ventricular ... ORPHA:912
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Complete atrioventricula... OMIM:619142
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:326
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Ventricular septal defect, Short statur... OMIM:250410
Tyshchenko Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Premature birth, High, narrow palate, C... OMIM:615102
Neurocutaneous Melanocytosis
Ventriculomegaly, Renal hypoplasia/aplasia, Meningocele, Intracranial hemorrhage, Aplasia/Hypopla... ORPHA:2481
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abno... OMIM:266500
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su... ORPHA:169802
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Aspiration, Respiratory insufficiency, Macroglos... ORPHA:258
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Witteveen-Kolk Syndrome
Proximal placement of thumb, Polyhydramnios, High, narrow palate, Cortical dysplasia, Intracrania... OMIM:613406
Cohen Syndrome
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Arachnoda... ORPHA:193
Megalencephaly
Frontal bossing, Dolichocephaly, Long penis, Genu valgum, Prominent occiput, Macrocephaly, Atrial... ORPHA:2477
Coffin-Siris Syndrome 6
Frontal bossing, Short stature, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, ... OMIM:617808
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Absent p... ORPHA:994
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... ORPHA:91139
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Neonatal respiratory distress, Hypospadias, Premature birth, Postnatal growt... ORPHA:96179
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Tented upper lip vermilion, Dental crowding, Polyhydramnios, High palate, S... OMIM:620369
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Frontal bossing, Short stature, Palpebral edema, Unilater... OMIM:181270
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Orofacial cleft,... ORPHA:324416
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Abnormality of the dentition, Microphthalmia, Sp... OMIM:157900
Diamond-Blackfan Anemia
Radial artery aplasia, High palate, Triphalangeal thumb, Adenocarcinoma of the colon, Atrial sept... ORPHA:124
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Short stature, Polyhydramnios, Microcephaly, Patent ductus arteriosus, Hip ... OMIM:618005
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Tapered finger, Patent ductus arte... OMIM:613870
Meckel Syndrome, Type 9
Sonographic non-visualized fetal bladder, Occipital encephalocele, Multicystic kidney dysplasia, ... OMIM:614209
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Alstrom Syndrome
Renal insufficiency, Short stature, Abnormality of the hand, Abnormality of the dentition, Conges... OMIM:203800
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immo... OMIM:244400
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly, Ventouse delivery, Widely spaced teeth, Caesarian section, Amelogenesis imperfecta... OMIM:619229
Scheie Syndrome
Aortic regurgitation, Wide mouth, Mucopolysacchariduria, Thick vermilion border, Everted lower li... ORPHA:93474
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... ORPHA:25
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Apnea, Single transverse palmar crease, Palpebral edema, Dolichocephaly, Metatarsus... OMIM:214110
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Microcephaly, Metatarsus adductus, Short stat... ORPHA:293939
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Bicuspid aortic valve, High palate, Atrial septal defect, Cavum septu... ORPHA:457279
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Ventricular... OMIM:617201
Mend Syndrome
Crossed fused renal ectopia, Overlapping toe, Broad hallux, Short stature, Long fingers, Hydrocep... OMIM:300960
Sandhoff Disease, Infantile Form
Progressive macrocephaly, Mitral valve prolapse, Mitral regurgitation, Cherry red spot of the mac... ORPHA:309155
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... ORPHA:65759
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, Polyh... ORPHA:373
Potocki-Lupski Syndrome
Atrial septal defect, Dental crowding, Short stature, Microcephaly, Abnormal renal morphology, De... OMIM:610883
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Atrial septal defect, Ventriculomegaly, Exaggerated cupid's bow, Campto... ORPHA:261236
Zechi-Ceide Syndrome
Cerebellar vermis hypoplasia, Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Abnormal hea... ORPHA:217017
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, ... OMIM:619179
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Frontal bossing, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Wi... ORPHA:60040
Say Syndrome
Ulnar deviation of the 3rd finger, Short stature, Microcephaly, Tapered finger, Proximal renal tu... OMIM:181180
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Brachycephaly, High... ORPHA:3103
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydro... OMIM:207410
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... OMIM:113000
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal rib morphology... ORPHA:2635
Coffin-Siris Syndrome 4
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,... OMIM:614609
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Metatarsus adductus, Hy... ORPHA:584
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Partial agenesis of the corpus callosum, Tac... OMIM:220111
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... ORPHA:325
Cranioacrofacial Syndrome
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Respiratory insufficiency, Multiple renal cysts, Vascular dilatation ORPHA:2924
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Atrial septal defect, Sandal gap, Single transverse p... OMIM:617061
Microphthalmia, Syndromic 6
Anophthalmia, Single transverse palmar crease, Brachycephaly, High palate, Clinodactyly of the 5t... OMIM:607932
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Bilateral single transverse palmar creases, Ventricular septal defec... ORPHA:1770
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... OMIM:620210
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Premature birth, Edema, Atelectasis, Dyspnea... OMIM:267450
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, F... ORPHA:264450
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Midface retrusion, Tented upper lip vermilion, Aganglionic megacolon, T... OMIM:239300
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly, Microcephaly, Hypoplasia of the brainstem, Talipes equ... OMIM:617255
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Aplasia/Hypoplasia of... ORPHA:531151
Combined Oxidative Phosphorylation Defect Type 27
Abnormal cerebral white matter morphology, Diffuse cerebral atrophy, Nonimmune hydrops fetalis, H... ORPHA:477774
Meckel Syndrome, Type 3
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... OMIM:607361
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Abnormality of the dentition, Coni... ORPHA:228390
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Dyspnea, Renal cyst, Hypoplasia of t... OMIM:615636
Snijders Blok-Campeau Syndrome
Frontal bossing, Midface retrusion, Taurodontia, High palate, Widely spaced teeth, Pulmonic steno... OMIM:618205
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Familial Multiple Nevi Flammei
Cerebral calcification, Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage,... ORPHA:624
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Premature birth, Epist... ORPHA:465
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Overlapping toe, Short stature, Dolichocephaly, Cleft lip, Deep philtrum, Cleft ... OMIM:618571
Spondyloepimetaphyseal Dysplasia, Krakow Type
Frontal bossing, Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Allergic rhiniti... OMIM:618162
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Short stature, Myocardial infarction, Coronary artery calcificatio... OMIM:208000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Premature birth, Aplastic cl... ORPHA:50945
Renal Hypodysplasia/Aplasia 1
Proteinuria, Anhydramnios, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Talipes ... OMIM:191830
Leopard Syndrome 1
Bundle branch block, Limited elbow movement, Micropenis, Parietal bossing, Spina bifida occulta, ... OMIM:151100
Classical Ehlers-Danlos Syndrome
Rectal prolapse, Premature rupture of membranes, Shoulder dislocation, Ecchymosis, Dislocated rad... ORPHA:287
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced... OMIM:619902
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... ORPHA:2091
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Single transverse palmar crease, Simplified gyral pattern, Brachycephaly,... ORPHA:96121
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... ORPHA:94080
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Epispadias, Partial agenesis of the corpus... OMIM:615948
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Thin upper lip vermilion, Proximal placement of thumb, Microcephaly, Secundum atrial septal defec... OMIM:619121
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Silver-Russell Syndrome Due To A Point Mutation
Relative macrocephaly, Syndactyly, Frontal bossing, Hypospadias, Postnatal growth retardation, As... ORPHA:397590
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... ORPHA:352665
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Frontal bossing, Tapered finger, Lymphedema, Triangular mouth, Flattened ep... OMIM:607131
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompactio... ORPHA:508542
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Edema of... OMIM:601803
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral reflux, Clinodactyly of the... OMIM:616580
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... ORPHA:94066
Lethal Congenital Contracture Syndrome Type 1
Short stature, Polyhydramnios, Abnormality of the elbow, Abnormal rib morphology, Amniotic constr... ORPHA:1486
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Ketonuria, Single transverse palmar crease, Renal hypoplasia, High... OMIM:619053
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, Brachycephaly, High palate, ... OMIM:234100
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac wing, Atrial sept... ORPHA:2637
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Trigonocephaly, High, narrow palate, Congestive heart failure, Recurrent pneum... ORPHA:1900
Renal Tubular Dysgenesis
Anuria, Microcephaly, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hyp... OMIM:267430
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Abno... ORPHA:2314
Basal Cell Nevus Syndrome 1
Palmar pits, Cardiac fibroma, Parietal bossing, Odontogenic keratocysts of the jaw, Spina bifida,... OMIM:109400
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff... OMIM:245650
Desmosterolosis
Micromelia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Absent septum pellucidum, Paten... ORPHA:35107
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Brachyceph... OMIM:618577
Intellectual Developmental Disorder, Autosomal Recessive 79
Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ... OMIM:620393
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Pachygyria, Dysplastic co... ORPHA:2328
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Methylmalonic aciduria, Abn... ORPHA:79284
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Ulbright-Hodes Syndrome
Respiratory distress, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humer... ORPHA:3404
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Reduced cerebral wh... OMIM:617190
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial... ORPHA:476126
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Coxa valga, Abnormality of the elbow, Brachycephaly, Flattened epiphysis, Flat a... ORPHA:163649
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Cleft palate, Ho... ORPHA:945
Trisomy 20P
Brachycephaly, Downturned corners of mouth, Short philtrum, Microdontia, Finger syndactyly, Hypos... ORPHA:261318
Joubert Syndrome 1
Central apnea, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Agenesis of cerebe... OMIM:213300
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Pneumothorax, Abnormal basal ganglia morphology, Renal cyst, Cerebral atroph... ORPHA:445038
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Abnormal globus pallidus morphology, Cerebellar hemorrhage, Stage 5 chronic... OMIM:251000
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Microcephaly, Dyspnea, Plagiocephaly, Growth delay, Microphthalmia, Micropenis,... OMIM:308350
Ellis-Van Creveld Syndrome
Epispadias, Hypoplastic iliac wing, Atrial septal defect, Neonatal short-limb short stature, Dand... OMIM:225500
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Atrial septal defect, Tented upper lip vermilion, Single transverse pal... OMIM:620075
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... OMIM:608227
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Subaortic Stenosis-Short Stature Syndrome
Short stature, Membranous subvalvular aortic stenosis, Respiratory insufficiency, Subvalvular aor... ORPHA:3191
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Ventricular septal defect, Short stature, Polyhydramnios... OMIM:610733
Acromelic Frontonasal Dysostosis
Preaxial polydactyly, Brachycephaly, Patellar hypoplasia, Cavum septum pellucidum, Short tibia, A... OMIM:603671
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Renal agenes... OMIM:212780
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Short Stature-Micrognathia Syndrome
Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Short stature, Bowing of the legs... OMIM:617164
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Flat occiput, Hypoplasia of the iris, Hypoplasia of the brainstem, H... OMIM:251300
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Flat occiput, Downturned corners of mouth, High palate, Clinodactyly of the... ORPHA:177907
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Abnormality of the denti... ORPHA:251038
Oculodentodigital Dysplasia
Selective tooth agenesis, Basal ganglia calcification, Clinodactyly, High palate, Joint contractu... OMIM:164200
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Lujan-Fryns Syndrome
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Brachycep... ORPHA:776
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Postaxia... ORPHA:2519
Lambotte Syndrome
Ventricular septal defect, Microcephaly, Narrow mouth, Preaxial foot polydactyly, Intrauterine gr... OMIM:245552
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... ORPHA:1327
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Simplified gyral pattern, Downturned corners of mouth, Short philtrum, ... ORPHA:500150
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
1P36 Deletion Syndrome
Hypoplasia of penis, Brachycephaly, Renal cyst, Clinodactyly of the 5th finger, Agenesis of corpu... ORPHA:1606
22Q11.2 Duplication Syndrome
Ventricular septal defect, Microcephaly, Urethral stenosis, Cleft palate, Growth delay, Hypoplast... ORPHA:1727
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Atrial septal defect, Ventricular septal defect, Microcephaly, Oligohydramnios... OMIM:208085
Congenital Myopathy 11
Decreased fetal movement, Neonatal respiratory distress, Polyhydramnios, Breech presentation, Pat... OMIM:619967
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hy... OMIM:619841
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Deep philtrum, High palate, Clinodactyly... OMIM:115150
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Aplasia/Hypoplasia of the c... ORPHA:280
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Decreased fetal movement, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Patent duct... OMIM:614557
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Cerebral atrophy, Coarctation of aorta, Methylmalonic acidur... OMIM:614857
Gordon Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Cleft palate, High palate, Clinodactyl... ORPHA:376
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong... ORPHA:1880
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Proteinuria, Abnormal heart valve m... ORPHA:77261
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Diffuse cerebral atrophy, Overlapping toe, Arachnodactyly, Single transvers... ORPHA:83617
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Respiratory insufficiency, Hypert... ORPHA:2111
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Abnormal rib morphology, Cleft... ORPHA:2345
Coffin-Siris Syndrome
Simplified gyral pattern, Aspiration pneumonia, Atrial septal defect, Agenesis of corpus callosum... ORPHA:1465
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Thin upper lip vermilion, Ventriculomegaly, Flat occiput, Ventricular... OMIM:235255
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Decreased fetal movement, Respiratory insufficiency ORPHA:157973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Houge-Janssens Syndrome 3
Frontal bossing, Single transverse palmar crease, Microcephaly, Muscular ventricular septal defec... OMIM:618354
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Short stature, Cleft palate, Polydactyly, High palate, Short tibia,... OMIM:300484
Leigh Syndrome
Encephalomalacia, Complex organic aciduria, Focal T2 hyperintense basal ganglia lesion, Agenesis ... ORPHA:506
Methylcobalamin Deficiency Type Cble
Syndactyly, Glomerulopathy, Microcephaly, Hemolytic-uremic syndrome, Postnatal growth retardation... ORPHA:2169
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Periventricular cysts, Orofacial cleft, Downturned corners of mo... OMIM:194190
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the ... OMIM:619512
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Cerebral hemorrhage, Basal ... ORPHA:542310
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Arachnodactyly, Hypospadias, Abnormality of the dentition, Apla... ORPHA:1548
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Brachycephaly, Orofacial cleft, Hi... OMIM:607872
Reactive Arthritis
Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Abnormal pleura morpholog... ORPHA:29207
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Syndactyly, Atrial septal defect, Cerebellar vermis hypoplasia, Short s... OMIM:619869
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Multifocal cerebral white matter abnormalities, I... ORPHA:140989
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Abnormality of the dentition, Long... OMIM:617557
Curry-Jones Syndrome
Intestinal pseudo-obstruction, Agenesis of corpus callosum, Unicoronal synostosis, Lipomyelomenin... OMIM:601707
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... ORPHA:46627
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Ventricular septal defect, Short stature, Hydrocephalus, Pat... OMIM:102500
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Ectopic kidney, Partial agenesis of the corpus ca... OMIM:135900
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce... ORPHA:77301
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Limited elbow move... OMIM:261540
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Short stature, Unilateral renal agenesis, Diastema, Hydrocephalus, ... OMIM:609757
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Frontal bossing, Angina pectoris, Short stature, Abnormal large intestine m... ORPHA:109
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Ventriculomegaly, Flat occiput, Ventricular septal defect, Polyhydramni... ORPHA:1655
7Q31 Microdeletion Syndrome
Atrial septal defect, Recurrent respiratory infections, Postnatal growth retardation, Asthma, Pat... ORPHA:251061
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, Short stature, Sagittal craniosynostosis, Trigonocephaly, High palate,... OMIM:314320
Incontinentia Pigmenti
Abnormal hand morphology, Orofacial cleft, Spina bifida occulta, Finger syndactyly, Abnormal dent... ORPHA:464
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, High p... OMIM:303600
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Respiratory distress, Decreased fetal movement, Rhizomelia, Polyhydramnios, Mi... OMIM:616271
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Left ventricular outflow tract obstruct... OMIM:615779
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Growth ... OMIM:617244
Acromegaly
Frontal bossing, Palpebral edema, Macrodactyly, Dysuria, Tapered finger, Abnormality of the denti... ORPHA:963
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Toe syndactyly, Thoracic aortic aneurysm, Intestinal malrotation, Ventricul... OMIM:619657
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... ORPHA:97214
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Malabsorption, Carious teeth, Congestive heart f... ORPHA:220393
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening,... ORPHA:96190
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Alg12-Cdg
Proximal placement of thumb, Edema, Polyhydramnios, Posterior plagiocephaly, Short philtrum, Clin... ORPHA:79324
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Respiratory insufficiency, Postaxial polydactyly OMIM:614970
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Congestive heart failure, Dyspnea,... ORPHA:35687
19P13.3 Microduplication Syndrome
Ventricular septal defect, Microcephaly, Long fingers, Hip dislocation, Cleft palate, Cerebral at... ORPHA:447980
Cardiofaciocutaneous Syndrome
Lymphedema, High palate, Biparietal narrowing, Atrial septal defect, Long philtrum, Short stature... ORPHA:1340
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynost... OMIM:618027
Smith-Magenis Syndrome
Everted upper lip vermilion, Ventriculomegaly, Short stature, Abnormality of the dentition, Velop... OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ventriculomega... OMIM:619355
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Cutis Laxa, Autosomal Dominant 2
Mitral regurgitation OMIM:614434
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Brachycephaly, Tetraphocomelia, High palate, Phocomelia, Atrial septal defect, Wr... OMIM:268300
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Atrial septal defect, Abnormal mitral valve morphology, Short stature, Microceph... ORPHA:1292
Lambert Syndrome
Ventricular septal defect, Hypospadias, Wide mouth, Branchial anomaly, Aplasia/Hypoplasia of the ... ORPHA:1296
Distal Deletion 12Q
Single transverse palmar crease, Ectopic kidney, High, narrow palate, Brachycephaly, Aplasia/Hypo... ORPHA:96149
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Pedal ... ORPHA:422
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil... ORPHA:221120
Brain-Lung-Thyroid Syndrome
Respiratory distress, Atrial septal defect, Vesicoureteral reflux, Cavum septum pellucidum, Paten... ORPHA:209905
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Cerebral calcification, Flat occiput, Severe short st... ORPHA:2780
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Respiratory insufficienc... OMIM:615633
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Hypertrophy of the u... ORPHA:90307
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Edema, Polyhydramnios, Short philtrum, Short tibia, Micropenis, Patent fora... OMIM:607143
Fetal Alcohol Syndrome
Thin upper lip vermilion, Atrial septal defect, Short stature, Microcephaly, Non-midline cleft li... ORPHA:1915
Digeorge Syndrome
High, narrow palate, High palate, Short philtrum, Bifid uvula, Short stature, Atelectasis, Patent... OMIM:188400
Monosomy 5P
Finger syndactyly, Short stature, Microcephaly, Small hand, High palate, Intrauterine growth reta... ORPHA:281
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Deep ph... ORPHA:1825
Cerebellar-Facial-Dental Syndrome
Single transverse palmar crease, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal T-... ORPHA:444072
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... OMIM:615981
Joubert Syndrome 10
Frontal bossing, Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Growth delay... OMIM:300804
Kyphoscoliotic Ehlers-Danlos Syndrome
Decreased fetal movement, Congenital hip dislocation, Arachnodactyly, Bicuspid aortic valve, Abno... ORPHA:536545
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical dyspl... ORPHA:468631
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, Raynaud phenom... ORPHA:3260
Stromme Syndrome
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... OMIM:243605
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
49,Xxxxy Syndrome
Hypoplasia of penis, Pulmonary embolism, Brachycephaly, Holoprosencephaly, Clinodactyly of the 5t... ORPHA:96264
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... OMIM:175050
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Frontal bossing, Pol... OMIM:620351
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, ... OMIM:249270
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit... OMIM:620014
Bardet-Biedl Syndrome 8
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Brachycephaly, Renal dysplasia OMIM:615985
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger s... ORPHA:3320
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... OMIM:612562
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Cockayne Syndrome Type 1
Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primary teeth, Abnormality of... ORPHA:90321
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
X-Linked Intellectual Disability, Nascimento Type
Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Deep philtrum, Downturned ... ORPHA:163956
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Ventriculomegaly, Short stature, Abnormality of the kidney, Tracheomalacia, Abnormal... ORPHA:261652
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Clinodactyly of the 5th... OMIM:601163
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... ORPHA:140976
Noonan Syndrome 5
Short stature, Polyhydramnios, Dolichocephaly, Macrocephaly, Wide mouth, Thick vermilion border, ... OMIM:611553
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Restrictive Dermopathy
Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,... ORPHA:1662
Frontoocular Syndrome
Atrial septal defect, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, Trigonocepha... OMIM:605321
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Microcephaly, Hydrocephalus, Simplified gyral patte... OMIM:615219
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosi... OMIM:611773
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Abnormal basal ganglia MRI signal intensity, Congestive heart fai... ORPHA:444013
Hallermann-Streiff Syndrome
High, narrow palate, Brachycephaly, Glossoptosis, Rib exostoses, Clinodactyly of the 5th finger, ... ORPHA:2108
Wiedemann-Steiner Syndrome
High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of finger, Long ... OMIM:605130
Penile Agenesis
Urethral atresia, male, Hydroureter, Ventricular septal defect, Rectal fistula, Fetal pyelectasis... ORPHA:49
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal de... OMIM:107480
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth... OMIM:235200
Holzgreve Syndrome
Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Renal hypoplasia/apl... ORPHA:2167
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodactyly of finger, Short stature, Abnor... ORPHA:2994
Trisomy 10P
Simplified gyral pattern, Orofacial cleft, High palate, Abnormal hip joint morphology, Dandy-Walk... ORPHA:171929
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, High, narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger... ORPHA:96182
Weiss-Kruszka Syndrome
Ventriculomegaly, Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of... OMIM:618619
Toriello-Carey Syndrome
Partial agenesis of the corpus callosum, Anteriorly placed anus, High palate, Aplasia/Hypoplasia ... ORPHA:3338
Cockayne Syndrome Type 2
Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis, Ventricular septal defect OMIM:614876
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Frontal bossing, Ventricular septal defect, Short stature,... ORPHA:3255
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Brachycephaly, Downturned corners o... ORPHA:199
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micropenis, Short stature, Humeroradial synostos... OMIM:134780
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Thin upper lip vermilion, Frontal bossing, Dental crowdi... OMIM:309520
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polyd... OMIM:617102
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... ORPHA:327
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger... ORPHA:959
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect,... OMIM:619239
Kbg Syndrome
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Short stature, Microcepha... ORPHA:2332
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, V... ORPHA:59315
Trisomy X
Clinodactyly of the 5th finger, Hip dysplasia, Multicystic kidney dysplasia, Renal hypoplasia/apl... ORPHA:3375
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Congestive heart failure, Polycystic ovaries, Advanced eruption of teeth, Hypertr... ORPHA:2348
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Mild postnatal growth retardation, Basal ganglia calcification, Re... ORPHA:90324
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Precocious puberty, Coloboma, Microphthalmia OMIM:615877
Joubert Syndrome 37
Frontal bossing, Cerebellar vermis hypoplasia, Short stature, Postaxial polydactyly, High palate,... OMIM:619185
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of... ORPHA:857
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, I... OMIM:619708
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Atrial septal defect, Ventricular septal defect, Short stature, Proximal pl... OMIM:610536
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Flat occiput, Dental crowding, Tibial bowing, High palate, Short philtrum, Microdontia, Clinodact... ORPHA:251028
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Short stature, Renal agenesis, Microcephaly, Absent radius, Short t... OMIM:227650
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... ORPHA:1553
Menkes Disease
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Malabsorption, Microcep... ORPHA:565
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy ORPHA:324588
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... ORPHA:99901
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Velopharyngeal... OMIM:619314
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Atrial septal defect, Hypospadias, Ventricular septal defect, Short sta... OMIM:300712
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Short stature, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bon... OMIM:600384
Somatomammotropinoma
Frontal bossing, Palpebral edema, Macrodactyly, Dysuria, Tapered finger, Abnormality of the denti... ORPHA:314769
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Short stature, Polyhydramnios, Coxa valga, M... OMIM:619833
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Short stature, Renal agenesis, Microcephaly, Absent radius, Short t... OMIM:600901
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:35909
Pearson Syndrome
Renal insufficiency, Proteinuria, Cardiac conduction abnormality, Microcephaly, Postnatal growth ... ORPHA:699
Congenital Factor Xiii Deficiency
Umbilical cord hematoma, Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extracti... ORPHA:331
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Polyhydramnios, Delayed... OMIM:114290
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short th... ORPHA:436003
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly... OMIM:617914
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Secundum atrial septal defect, Partial agenesis of the corpus callosum, Contracture ... OMIM:618109
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... ORPHA:774
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Microcephaly, Narrow mouth, Delayed eruption of permanent teeth, Short dist... OMIM:619356
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiect... OMIM:616006
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Absent septu... OMIM:601357
Mohr Syndrome
Porencephalic cyst, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Sy... OMIM:252100
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Micromelia, Craniosynostosis, Postaxial hand polydactyly, Oxycephaly, Hypoplas... OMIM:200995
Okamoto Syndrome
Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de... ORPHA:2729
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Stroke, Hypertrophic car... OMIM:611126
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dysplasia, Varicose veins, L... ORPHA:500095
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhyd... OMIM:616843
Seckel Syndrome 10
Ventricular hypertrophy, Severe short stature, Microcephaly, Congestive heart failure, Metaphysea... OMIM:617253
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Brachycephaly, Ab... ORPHA:480880
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Malabsorption, Periorbital edema, Co... ORPHA:33226
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... OMIM:617610
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narr... OMIM:309800
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Hypospadias, Brachy... OMIM:615761
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Thick lowe... ORPHA:137634
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect, Microcephaly, Cleft lip, Cleft pal... ORPHA:398156
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Micromelia, Agenesis of corpus callosum, Bifid uvula, Finger syn... ORPHA:87
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal ... OMIM:618067
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove... OMIM:616738
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Frontal bossing, Microcephaly, Postnatal growth retardation, Small hand... OMIM:241410
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Transketolase Deficiency
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... ORPHA:488618
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Atrial septal defect... OMIM:304120
White-Sutton Syndrome
Duplicated collecting system, Short stature, Optic nerve hypoplasia, Microcephaly, Patent ductus ... OMIM:616364
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Ventricular septal defect, Short stature, Renal agenesis, Microceph... OMIM:227645
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A... ORPHA:73246
Non-Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Noonan Syndrome 2
Relative macrocephaly, Atrial septal defect, Abnormal coronary artery origin, Ventricular septal ... OMIM:605275
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Renal insuff... ORPHA:1454
Luo-Schoch-Yamamoto Syndrome
Tricuspid regurgitation, Small hand, Oligohydramnios, Short foot, Widely-spaced maxillary central... OMIM:619460
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Combined Oxidative Phosphorylation Deficiency 42
Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Intrauterine growth r... OMIM:618839
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Lowry-Maclean Syndrome
Hypospadias, Single transverse palmar crease, Delayed eruption of primary teeth, Microcephaly, Cr... ORPHA:2409
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Short stature, Brachycephaly, Dextrotransposition of the great arterie... OMIM:619995
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Urinary i... OMIM:232300
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Patent ductus arteriosus, Downturned c... OMIM:615009
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
German Syndrome
Short stature, Camptodactyly of finger, Lymphedema, Brachycephaly, Orofacial cleft, Abnormal card... ORPHA:2077
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after dental extrac... ORPHA:98879
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Ascites, Renal cyst OMIM:174050
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Orofacial cleft, Patent foramen ovale, Hypospadias, Patent ductus ar... ORPHA:17
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Ring Chromosome 10 Syndrome
Frontal bossing, Aganglionic megacolon, Sandal gap, Tapered finger, Renal hypoplasia/aplasia, Thi... ORPHA:1438
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva... ORPHA:79
Monosomy 13Q34
Epistaxis, Microcephaly, Postaxial hand polydactyly, Fetal pyelectasis, Postaxial foot polydactyl... ORPHA:96168
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Bicuspid aortic valve, Leukoencephalopathy, Growth delay, Atrial septal defect, In... OMIM:617744
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Hype... OMIM:618835
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu... OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Increase... OMIM:300967
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Thin upper lip vermilion, Short stature, Premature birth, Increased nuchal translucency, Fetal in... OMIM:618480
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... ORPHA:217346
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven... ORPHA:251274
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... ORPHA:371428
Warburg Micro Syndrome 3
Microcephaly, Postnatal growth retardation, Brachycephaly, Narrow palate, Downturned corners of m... OMIM:614222
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Tachypnea, Atrial septal defect, Neonatal respiratory distress, Calcaneal ... ORPHA:79345
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Relative macrocephaly, Dental crowding, Short stature, Postnatal growth retardation, Upper limb a... ORPHA:231140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Microcephaly, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia OMIM:616910
Avian Influenza
Respiratory distress, Pneumonia, Ground-glass opacification, Productive cough, Congestive heart f... ORPHA:454836
Frank-Ter Haar Syndrome
Flat occiput, Abnormally large globe, Secundum atrial septal defect, Brachycephaly, High palate, ... OMIM:249420
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, High, narrow palate, Short philtrum, Widely spaced teeth, Clinodactyly of the 5t... ORPHA:466791
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Atrial septal ... OMIM:301044
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Midface retrusion, Ventricular septal defect, Bowing of the l... OMIM:617107
Werner Syndrome
Renal neoplasm, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarction, Abnormal c... ORPHA:902
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, High pa... OMIM:608670
Refsum Disease
Short metacarpal, Renal insufficiency, Heart block, Respiratory insufficiency, Cardiomyopathy, Ha... ORPHA:773
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Short stature, Microcephaly, Cleft palate, Narrow mouth, Atrial septal defect ORPHA:93946
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Edema, Renal cyst, Deh... ORPHA:79404
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short statur... ORPHA:261323
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Gracile Bone Dysplasia
Short stature, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micropht... OMIM:602361
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Calcaneovalgus deformity, Brachy... OMIM:612513
American Trypanosomiasis
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Dyspnea, ... ORPHA:3386
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Brachycephaly, High palate, Atrial septa... OMIM:213980
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... ORPHA:284169
Arboleda-Tham Syndrome
Respiratory distress, Secundum atrial septal defect, Downturned corners of mouth, Short philtrum,... OMIM:616268
Limb Body Wall Complex
Amniotic constriction ring, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the pro... ORPHA:2369
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Short stature, Microcephaly, Bilateral microphthalmos, Unilateral micropht... OMIM:619318
Doors Syndrome
Respiratory distress, Short lingual frenulum, Abnormal placental membrane morphology, Polyhydramn... ORPHA:79500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender ... OMIM:147800
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Intracranial ... ORPHA:98878
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anteriorly placed anus, Cutaneous finger syndactyly, Bro... OMIM:151050
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Ogden Syndrome
Frontal bossing, Everted upper lip vermilion, Broad hallux, Ventricular septal defect, Postnatal ... ORPHA:276432
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy, ... OMIM:616277
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, V... OMIM:620024
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi... ORPHA:166119
Immune-Mediated Necrotizing Myopathy
Scapular winging, Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary i... ORPHA:206569
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Ventriculomegaly, Short stature, Hypoplasia of the pons, Intraventricular hemorrhage,... OMIM:616430
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Sinusitis, Epista... ORPHA:727
De Barsy Syndrome
Congenital hip dislocation, Cerebellar vermis hypoplasia, Brachycephaly, Coxa vara, Prominent vei... ORPHA:2962
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplasia of th... OMIM:610828
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Geleophysic Dysplasia 1
Short palm, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Short statu... OMIM:231050
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re... OMIM:120330
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... ORPHA:391641
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Rectourethral fistula, High palate, Vesicoureteral reflux, Aspirati... OMIM:300000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory distress, Respiratory fail... ORPHA:308552
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Microcephaly, Focal p... OMIM:619103
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa v... OMIM:614976
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... ORPHA:93260
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... OMIM:620305
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly, Nephronophthisis OMIM:614845
Transaldolase Deficiency
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Asthma, Telangiectasia, Wide ... OMIM:606003
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Bicuspid aortic valve, Cleft... ORPHA:261537
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Microcephaly, Widely spaced teeth, Camptodactyly, Microdontia, Cubitus va... OMIM:619694
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar hy... OMIM:605676
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Lymphedema, Intracranial hemorrhage, R... ORPHA:3226
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Fetal distress, Secundum atrial septal defect, Incre... OMIM:620183
X Small Rings
Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Taper... ORPHA:96201
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Tetraamelia Syndrome 1
Renal agenesis, Cleft upper lip, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate... OMIM:273395
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidn... ORPHA:96167
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... ORPHA:2347
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Frontal bossing, Overlapping toe, Tapered finger, Microcephaly, Arteria lusoria, 2-3 toe syndacty... OMIM:618653
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, Short philtrum, Microdontia, A... ORPHA:2044
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Wide mouth, Thin ve... ORPHA:544254
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislo... ORPHA:1425
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death OMIM:276822
Congenital Generalized Lipodystrophy
Prominent superficial veins, Congestive heart failure, Polycystic ovaries, Macroglossia, Large ha... ORPHA:528
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Brachycephaly, Anteriorly placed anu... ORPHA:1225
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, Portal hyperten... ORPHA:284
Smith-Magenis Syndrome
Tented upper lip vermilion, Brachycephaly, Short philtrum, Clinodactyly of the 5th finger, Short ... ORPHA:819
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Pediatric-Onset Graves Disease
Atrial fibrillation, Premature birth, Craniosynostosis, Microcephaly, Congestive heart failure, N... ORPHA:525731
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... ORPHA:805
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Supraventricular arrhythmia, P... ORPHA:280365
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Short stature, Renal agenesis, Preaxial hand polydactyly, Deep phil... ORPHA:1297
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis, Intraventricular hemorrhage, Aplasia/Hypoplasia of the corpus ... ORPHA:401986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Abnormally large globe, Respiratory insufficiency due to muscle weakness, Hydroceph... OMIM:615249
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Abnormality of the urinary system, Agenesis of cerebellar vermis, Postax... OMIM:213010
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Microcephaly, Lymphedema, Thick vermilion border, Chyl... ORPHA:2526
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Microphthalmia, Syndromic 8
Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc... OMIM:601349
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Bicuspid aortic valve, Cleft... ORPHA:261552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Thoracic aortic aneurysm, Ileal atres... OMIM:619351
D-Bifunctional Protein Deficiency
Frontal bossing, Ventriculomegaly, Cerebral dysmyelination, Dolichocephaly, Corpus callosum atrop... OMIM:261515
Nephronophthisis 14
Situs inversus totalis, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Thin ribs, Lisse... OMIM:614833
Cleidocranial Dysplasia
Sinusitis, High, narrow palate, Brachycephaly, Coxa vara, Glossoptosis, Hypoplastic inferior ilia... ORPHA:1452
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Broad hallux... ORPHA:353281
Holoprosencephaly 14
Frontal bossing, Ventriculomegaly, Median cleft lip, Ventricular septal defect, Absent septum pel... OMIM:619895
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Short palm, ... ORPHA:175
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Abnormal dental morphology, Camptodact... ORPHA:568
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Frontal bossing, Rhizomelia, Abnormal dental enamel morphology,... ORPHA:1515
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Proteinuria, Short stature, Edema, Premature birth, Chronic kidney... ORPHA:97362
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Microcephaly, Esophageal atresia, A... ORPHA:2209
Microform Holoprosencephaly
Hypoplasia of penis, Tented upper lip vermilion, Short stature, Renal agenesis, Premature birth, ... ORPHA:280200
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lower lip vermil... OMIM:616789
Lateral Meningocele Syndrome
Neurogenic bladder, Dental crowding, Bicuspid aortic valve, Ventricular septal defect, Dolichocep... OMIM:130720
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... ORPHA:3097
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Frontal bossing, Flat occiput, Short stature, Renal agen... OMIM:181510
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventr... ORPHA:210122
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Short stature, Microcephaly, Carious teeth, Tal... OMIM:613684
Oculodentodigital Dysplasia
Cerebral calcification, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the cerebellum, Fin... ORPHA:2710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Decreased fetal movement, Agyria, Ventriculomegaly, Optic nerve h... OMIM:614643
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Short stature, Submucous cleft ha... ORPHA:3426
Arima Syndrome
Cerebellar vermis hypoplasia, Tachypnea, Hypoplasia of the brainstem, Nephronophthisis, Tubuloint... OMIM:243910
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Microcephaly, Dental malocclusion, Abn... ORPHA:2115
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Microcephaly, Narrow mouth, Atrial septal defect, Brachydac... OMIM:616459
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Bicuspid aortic valve, Cleft... ORPHA:2152
Santos Syndrome
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... OMIM:613005
Cystic Echinococcosis
Multiple pulmonary cysts, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Eosinophil... ORPHA:400
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... OMIM:613095
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Lymphatic Malformation 1
Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h... OMIM:153100
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Microcephaly, Malabsorptio... ORPHA:452
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Midface retrusion, Polyhydr... OMIM:617746
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... ORPHA:284227
Cooper-Jabs Syndrome
Frontal bossing, Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb,... ORPHA:1488
Ulnar-Mammary Syndrome
Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal... ORPHA:3138
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
15Q14 Microdeletion Syndrome
Ventricular septal defect, Short stature, Abnormality of the dentition, Microcephaly, Cleft palat... ORPHA:261190
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... OMIM:617056
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Beck-Fahrner Syndrome
Ventricular septal defect, Microcephaly, Cardiomegaly, Brachycephaly, Hip dysplasia, High palate,... OMIM:618798
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Reduced cerebral white matter volume, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum,... OMIM:280000
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri... OMIM:270100
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Noonan Syndrome 7
Short stature, Dolichocephaly, Growth delay, Deep palmar crease, Thick vermilion border, Pulmonic... OMIM:613706
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Rabson-Mendenhall Syndrome
Atrial septal defect, Dental crowding, Ventricular septal defect, Short stature, Abnormality of t... ORPHA:769
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Atrial septal defect, Hypoplastic tricuspid valve, Patent foramen ovale, Pa... OMIM:600001
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Prominent veins on trunk, Polycystic ovaries, Hypertension, Hypertrophi... ORPHA:79083
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Costello Syndrome
Hyperextensibility of the finger joints, Limited elbow movement, Polyhydramnios, High palate, Atr... OMIM:218040
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Kleefstra Syndrome 1
Natal tooth, Recurrent respiratory infections, Hypospadias, Single transverse palmar crease, Pers... OMIM:610253
Atelis Syndrome 2
Frontal bossing, Single transverse palmar crease, Microcephaly, Diastema, Dyspnea, Patent ductus ... OMIM:620185
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:276621
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Short stature, Craniosynostosis, Thick lower lip vermilion, Genu varum, Hip dislocati... OMIM:619451
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Short stature, Abnormality of prenatal development or birth, Abnormal lung morph... ORPHA:35173
Hemochromatosis, Neonatal
Abnormal bleeding, Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... ORPHA:2377
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... ORPHA:500
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Increased overbite,... OMIM:618504
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Exaggerated cupid's bow, Single transverse palmar crease, Microcephaly, Cleft li... OMIM:620098
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Arachnodactyly, Short stature, Mitral valve prolapse, Wide mouth, High pala... OMIM:300986
Cranioectodermal Dysplasia 3
Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 to... OMIM:614099
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... ORPHA:2911
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Microme... ORPHA:3015
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Short stature, Pulmonary artery sten... ORPHA:85202
Hypomelanosis Of Ito
Syndactyly, Microcephaly, Thick lower lip vermilion, Irregularly spaced teeth, Cerebral atrophy, ... OMIM:300337
Acrofrontofacionasal Dysostosis 2
Thickened nuchal skin fold, Syndactyly, Broad hallux, Hypospadias, Short stature, Microcephaly, B... OMIM:239710
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art... ORPHA:1112
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Thick cerebral cortex, Ventricular septal defect, Microcephaly, Coarcta... ORPHA:261183
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Single transverse palmar crease, Brachycephaly, High palate, Atrial s... OMIM:244450
Pseudo-Torch Syndrome 1
Renal insufficiency, Cerebral calcification, Ventriculomegaly, Microcephaly, Cleft lip, Patent du... OMIM:251290
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Protein-losin... ORPHA:79076
Ritscher-Schinzel Syndrome 4
Decreased fetal movement, Ulnar deviation of the hand, Short stature, Tapered finger, Narrow palm... OMIM:619435
Anemia, Congenital Dyserythropoietic, Type Iv
Frontal bossing, Hypospadias, Short stature, Hydrops fetalis, Micropenis, Hypertrophic cardiomyop... OMIM:613673
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia, Microcephaly OMIM:617182
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure... ORPHA:29072
Aymé-Gripp Syndrome
Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Short stature, Tapered finger, Perica... ORPHA:1272
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Brachydactyly, Hypospadias, Short stature, Premature birth, Abnormality of the... ORPHA:1786
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Ventriculomegaly, Rhizomelia, Postaxial polydactyly, Edema, Postnatal growth ret... OMIM:302960
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Uni... ORPHA:457284
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Microcephaly, Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormal heart m... OMIM:239800
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Hip dislocation, Micropenis, Rig... OMIM:617403
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short stature, Short metatarsal, Atrial septal defect, Short 4th metacarpal, Type E brachydactyly OMIM:113301
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Deep philtrum, Macro... ORPHA:3447
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Congestive heart failure, Spinal arteriovenous malformation, Arteriove... ORPHA:53721
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Premature birth, Car... ORPHA:555874
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Scapular winging, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Respiratory insufficienc... OMIM:607459
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Brachycephaly, Short philtrum, Bilateral coxa valga, Short phalanx of finger, B... ORPHA:439822
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater sciatic notch, A... OMIM:250220
Skraban-Deardorff Syndrome
Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee... OMIM:617616
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Ectopic kidney, Short toe, Pa... ORPHA:1519
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Subarachnoid hemorrhage, P... ORPHA:2356
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Eruption failure, Subvalvular aortic stenosis,... OMIM:182250
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorrhage, Prolonged bl... OMIM:202400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, E... OMIM:243700
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Clinodact... OMIM:113620
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Intracranial hemorrhage, Inflammation of the large int... ORPHA:906
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Widely-spaced maxillary central incisors, Micropenis, Hypospadias, Tapered finger, Diastema, Peri... OMIM:301040
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Frontal bossing, Dental crowding, Ventricular septal defect, Tapered fi... OMIM:619312
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... OMIM:601322
Larsen Syndrome
Short metatarsal, Atrial septal defect, Spina bifida occulta, Short metacarpal, Short stature, Sp... OMIM:150250
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Cerebellar vermis hypoplasia, Proteinuria, Ventricular septal defect, Sagittal crani... OMIM:616901
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Downturned cor... ORPHA:1780
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Short stature, Congestive heart failure,... ORPHA:391487
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Short stature, High, narrow palate, ... OMIM:619575
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation, Short stature, Premature birth, Microcephaly, Respirator... ORPHA:2090
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Hydrocephalus, Patent ductus arteriosus, Mitral valve pro... OMIM:104350
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Ascites, G... ORPHA:99828
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired m... ORPHA:158687
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
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
Costello Syndrome
Thickened nuchal skin fold, Ventricular septal defect, Abnormal dental enamel morphology, Short s... ORPHA:3071
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Donnai-Barrow Syndrome
Proteinuria, Intestinal malrotation, Ventricular septal defect, Non-acidotic proximal tubulopathy... OMIM:222448
Atelis Syndrome 1
Ventricular septal defect, Carious teeth, Bronchiectasis, High palate, Long philtrum, Atrial sept... OMIM:620184
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... OMIM:301043
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Brachycephaly, Short philtrum, Holoprosencephaly, Clinodactyly o... ORPHA:1449
Kabuki Syndrome 1
Congenital hip dislocation, High palate, Atrial septal defect, Prominent fingertip pads, Micropen... OMIM:147920
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Short stature, Accessory oral frenulum, Preaxial hand polydactyly, Cleft pa... ORPHA:79113
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Flat occiput, Ventricular septal defect, Dextrocardia, Cleft upper li... OMIM:614294
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hiatus hernia... OMIM:616682
Kabuki Syndrome
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... ORPHA:2322
Silver-Russell Syndrome 3
Relative macrocephaly, Syndactyly, Frontal bossing, Short stature, Postnatal growth retardation, ... OMIM:616489
Jansen-De Vries Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short stature, Pariet... OMIM:617450
Baller-Gerold Syndrome
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, ... OMIM:218600
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Proportionate short stature, Microcephaly, Patent foramen ovale, Paten... OMIM:613457
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Hypoventilation, Portal hypertension, Oliguria, Reduced renal cortico... ORPHA:731
Oculocerebrocutaneous Syndrome
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... ORPHA:1647
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Cardioacrofacial Dysplasia 2
Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common atrium, Postaxial hand... OMIM:619143
Kinsship Syndrome
Single transverse palmar crease, Downturned corners of mouth, Short philtrum, Widely spaced teeth... OMIM:619297
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Postnatal growth retardation, Hydrocephalus, Patent ductus a... ORPHA:2306
Joubert Syndrome 15
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis OMIM:614464
Adnp Syndrome
Respiratory distress, Single transverse palmar crease, Urinary incontinence, Abnormal finger morp... ORPHA:404448
Renpenning Syndrome 1
Brachycephaly, High palate, Short philtrum, Atrial septal defect, Clinodactyly of the 5th finger,... OMIM:309500
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... ORPHA:64754
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly ORPHA:357225
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou... OMIM:236700
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Mild microcephaly, Atrial septal defect, Hypoplastic ... ORPHA:2255
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Aplasia of ... ORPHA:1352
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Portal hypertension, Cardiomegaly, Congestive hear... ORPHA:465508
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Smooth ... OMIM:614526
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Short stature, Abnormality of the dentiti... OMIM:615802
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Stroke, Short stature ORPHA:3077
Silver-Russell Syndrome 1
Syndactyly, Frontal bossing, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal... OMIM:180860
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl... OMIM:619135
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, ... ORPHA:67
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Short statur... OMIM:602782
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Intestinal obstruction, Renal insufficiency, Proteinuria, Intestinal... ORPHA:85450
Tbck-Related Intellectual Disability Syndrome
Tented upper lip vermilion, High, narrow palate, Abnormal periventricular white matter morphology... ORPHA:488632
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Hypopnea, Hypoplast... OMIM:619562
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Pate... ORPHA:1556
Chops Syndrome
Ventricular septal defect, Short stature, Tracheomalacia, Microcephaly, High, narrow palate, Pate... OMIM:616368
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... OMIM:618278
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopath... OMIM:607598
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Short stature, Microcephaly, Unilateral microphthalmos, Bi... OMIM:618874
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Microcephaly, Growth delay, Microphthalmia, Micropen... OMIM:610756
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Apnea, Hydrocep... ORPHA:220493
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short stature, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hy... OMIM:615279
Bent Bone Dysplasia Syndrome 2
Relative macrocephaly, Atrial septal defect, Thickened nuchal skin fold, Ulnar deviation of the h... OMIM:620076
Warsaw Breakage Syndrome
Ventricular septal defect, Single transverse palmar crease, Microcephaly, Postnatal growth retard... OMIM:613398
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Chime Syndrome
Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality o... ORPHA:3474
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Broad skull, Atrial sept... OMIM:600373
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... OMIM:615777
Isovaleric Acidemia
Cerebellar hemorrhage, Hyperglycinuria, Dehydration OMIM:243500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:609192
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ... OMIM:305620
Myhre Syndrome
Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Ab... ORPHA:2588
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Methimazole Embryofetopathy
Hypospadias, Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fis... ORPHA:1923
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Pachygyria, Urinary incontinence OMIM:620094
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Edema, Intracranial hemorrhage, Hematuria, Oral cavity bl... ORPHA:324636
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Premature birth, Crowded maxillary incisors, Abnormal lung lobation, Abnormal femur morphology, U... ORPHA:2063
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, Abnormality of the kid... OMIM:209900
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Respiratory distress, Short femur, Ventriculomegaly... OMIM:618188
Aplasia Cutis Congenita
Finger syndactyly, Prolonged bleeding time, Toe syndactyly, Spinal dysraphism, Calvarial skull de... ORPHA:1114
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia OMIM:617562
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Midface retrusion, Recurrent respiratory infections, Aplasia/Hypoplasia of ... ORPHA:1790
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, H... OMIM:607597
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microce... OMIM:613680
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... OMIM:101600
Frontonasal Dysplasia 2
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Con... OMIM:613451
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons,... OMIM:618736
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Hydronephrosis, Respiratory failure, Cerebellar hypoplasia, Atrial sept... OMIM:620327
Mungan Syndrome
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Peri... OMIM:611376
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Fetal pyelectasis, Apneic episodes in infancy, Cerebral atrophy OMIM:301058
Bohring-Opitz Syndrome
Apnea, Cardiomegaly, Agenesis of corpus callosum, Prominent palatine ridges, Dandy-Walker malform... ORPHA:97297
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Gro... OMIM:176670
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Microcephaly, Thick corpus callos... OMIM:617798
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia OMIM:613576
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Atrial septal defect, Exaggerated cupid's bow, Microcephaly, ... OMIM:300896
Mowat-Wilson Syndrome
Large basal ganglia, Widely spaced teeth, Atrial septal defect, Agenesis of corpus callosum, Hypo... OMIM:235730
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Renal dysplasia, Congenital hip dislocation, Renal malrotation... OMIM:113650
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Abnormality of the dentition, Recurrent pneumonia... OMIM:618282
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Absent thumb, Short thumb, Patent d... OMIM:617516
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Broad long bones, Dental crowding, Short stature, Fif... OMIM:257850
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Carey-Fineman-Ziter Syndrome
Ventriculomegaly, Cerebral calcification, Short stature, Aplasia/Hypoplasia of the tongue, Microc... ORPHA:1358
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportionate short-... ORPHA:85194
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Thin upper lip vermilion, Dental crowding, Single transverse p... ORPHA:435938
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Renal cyst, Multiple renal cysts, Lissencephaly, Polymicrogyria OMIM:614883
Desmosterolosis
Relative macrocephaly, Frontal bossing, Rhizomelia, Microcephaly, Partial agenesis of the corpus ... OMIM:602398
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Proximal placement of thumb, High, narrow palate, Brachycephaly, High p... OMIM:613776
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Syndactyly, Tapered finger, Plagiocephaly, Macrocephaly, Clinodactyly of the 5th finger OMIM:618725
Neu-Laxova Syndrome 2
Finger syndactyly, Decreased fetal movement, Toe syndactyly, Rocker bottom foot, Spina bifida, Mi... OMIM:616038
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Flat occiput, Partial agenesis of the corpus callosum, Simplified g... ORPHA:300570
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... ORPHA:1517
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Abnormality of the ki... OMIM:123450
Kawasaki Disease
Pericarditis, Proteinuria, Abnormal heart valve morphology, Edema, Congestive heart failure, Myoc... ORPHA:2331
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Synostosis of carpal bones, H... ORPHA:3258
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Renal insufficiency, A... ORPHA:31826
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Premature birth, Abnorm... ORPHA:2165
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia OMIM:618805
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Microcephaly, Increased nuchal translucency, Cerebral atrophy, Wide mo... OMIM:617635
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of t... OMIM:234050
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Brachycephaly, Femoral bowing, Anteriorly placed anus, Vesicoureteral reflux... ORPHA:95699
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Short stature, Coxa valga, Hydrocephalus, Hip dislocation, Brachycephaly, Macroce... OMIM:109120
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardiomegaly, Dyspne... OMIM:614921
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Braddock-Carey Syndrome 2
Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly OMIM:619981
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm... OMIM:619910
Hydranencephaly
Ventriculomegaly, Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal c... ORPHA:2177
Hemimegalencephaly
Ventriculomegaly, Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity... ORPHA:99802
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Optic atrophy, Pigmentary... OMIM:222300
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Single transverse palmar crease, Polyhydramnios, Downturned corners of mouth, Atr... OMIM:620186
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri... OMIM:173800
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Macrocephaly, Plagioce... ORPHA:3210
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affecting the phalange... ORPHA:2658
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia... ORPHA:2438
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Decreased fetal movement, Congenital hip dislocation, Arachnodactyly... OMIM:225400
Orofaciodigital Syndrome Type 2
Apnea, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Tachyp... ORPHA:2751
Dpagt1-Cdg
Prolonged QT interval, Decreased fetal movement, Arachnodactyly, Microcephaly, Fetal akinesia seq... ORPHA:86309
Delpire-Mcneill Syndrome
Ventricular septal defect, Cortical dysplasia, Hip dislocation, Tracheoesophageal fistula, Agenes... OMIM:619083
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Cerebral atrophy ORPHA:306550
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral fren... OMIM:617088
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Polydactyl... ORPHA:313781
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Orofaciodigital Syndrome Type 14
Epispadias, Partial agenesis of the corpus callosum, Aplasia of the epiglottis, Lobulated tongue,... ORPHA:434179
Bartsocas-Papas Syndrome 1
Ectopic kidney, Hypoplastic iliac wing, Micropenis, Patent foramen ovale, Short phalanx of finger... OMIM:263650
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Craniosynostosis 6
Bicoronal synostosis, Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachyceph... OMIM:616602
Scorpion Envenomation
Bundle branch block, Edema, Tachypnea, Prominent U wave, Ketonuria, ST segment depression, Glycos... ORPHA:466677
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface... ORPHA:93258
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Cleft palate, High ... OMIM:619736
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Upper limb asymmetry, Arteriovenous malformation,... ORPHA:137608
Summitt Syndrome
Syndactyly, Oxycephaly, Craniosynostosis OMIM:272350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hypoplasia of the brainstem, Pachygyria, Agenesis of corpus callosum, Da... OMIM:236670
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Neonatal omphalitis, Hematochezia, Cardiomyopat... OMIM:615895
Lethal Congenital Contracture Syndrome 1
Edema, Paucity of anterior horn motor neurons, Abnormality of the amniotic fluid, Pulmonary hypop... OMIM:253310
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Craniosynostosis, Absent thumb, C... ORPHA:96097
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu... OMIM:258860
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Warburg Micro Syndrome 4
Short stature, Narrow mouth, Perisylvian polymicrogyria, Brachycephaly, Severe postnatal growth r... OMIM:615663
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature, Microcephaly, Cleft upper lip, Cleft pala... OMIM:609654
Carey-Fineman-Ziter Syndrome 1
Decreased fetal movement, Tapered finger, Microcephaly, Pierre-Robin sequence, Cleft palate, Resp... OMIM:254940
Trichothiodystrophy
Ventricular septal defect, Cerebral dysmyelination, Microcephaly, Carious teeth, High, narrow pal... ORPHA:33364
Warburg Micro Syndrome 2
Overlapping toe, Clinodactyly of the 5th toe, Microcephaly, Postnatal growth retardation, Brachyc... OMIM:614225
Septooptic Dysplasia
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Short stature, Polydacty... OMIM:182230
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Ventricular septal defect, Microcephaly, Nephrocalcinosis, Renal tubular acidosis, H... OMIM:613404
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha... ORPHA:110
Micro Syndrome
Hypoplasia of penis, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Abnormal localiza... ORPHA:2510
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... OMIM:277450
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Scapular winging, Short metacarpal, Restri... OMIM:272460
Multiple Pterygium-Malignant Hyperthermia Syndrome
Polyhydramnios, Amniotic constriction ring, Downturned corners of mouth, Advanced eruption of tee... ORPHA:2215
Aicardi Syndrome
Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu... OMIM:304050
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Ol... ORPHA:31824
16P11.2P12.2 Microdeletion Syndrome
Frontal bossing, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, Proximal place... ORPHA:261211
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, Tented upper lip vermilion, Flat occiput, Single transverse pal... OMIM:618076
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Brachycephaly... OMIM:101800
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Sho... ORPHA:2251
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Holoprosencephaly 1
Short stature, Proboscis, Microcephaly, Alobar holoprosencephaly, Single ventricle, Cerebellar hy... OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Ventriculomegaly, Cleft upper lip, Microcephaly, Hydrocephalus, Partial absence of... OMIM:613150
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... ORPHA:70591
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Ventricular septal defect, Short stature, Microcephaly, Esophageal atresia,... OMIM:301030
Distal Duplication 17Q
Hallux valgus, Thin upper lip vermilion, Frontal bossing, Severe short stature, Rhizomelia, Overl... ORPHA:3379
Frontofacionasal Dysplasia
Encephalocele, Short stature, Non-midline cleft lip, Brachycephaly, Cleft palate, Hypoplasia of o... ORPHA:1791
Stormorken Syndrome
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Hematu... OMIM:185070
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Alazami Syndrome
Postnatal growth retardation, Mild microcephaly, Wide mouth, Slender long bone, Thick vermilion b... ORPHA:319671
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Polyhydramnios, Abnormal cardiac septum morphology, Respiratory ... ORPHA:3346
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Corpus callosum atrophy, Urinary urgency, Abnormal cerebral white matter mo... ORPHA:447753
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Respiratory distress, Tachycardia, Ventricular septal defect, Pneumonia, E... ORPHA:26793
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, ... ORPHA:93259
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Lethal Congenital Contracture Syndrome 5
Decreased fetal movement, Polyhydramnios, Subdural hemorrhage, Retinal hemorrhage, Respiratory in... OMIM:615368
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... OMIM:615986
King-Denborough Syndrome
Decreased fetal movement, Ventricular septal defect, Short stature, Breech presentation, Deep phi... OMIM:619542
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Charlie M Syndrome
Finger syndactyly, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio... ORPHA:1406
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Tricuspid regurgitation, Dilation of Virchow-Robin spaces, Hypophosphaturia, De... ORPHA:73223
Osteoporosis-Pseudoglioma Syndrome
Frontal bossing, Crumpled long bones, Short stature, Metaphyseal widening, Microphthalmia, Abnorm... ORPHA:2788
Polydactyly, Postaxial, Type A8
Short stature, Postaxial polydactyly, Genu valgum OMIM:618123
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Congenital Myopathy 15
Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Reduced forced vital capacity,... OMIM:620161
Hellp Syndrome
Generalized edema, Proteinuria, Cerebral hemorrhage, Placental abruption, Hemoglobinuria, Prolong... ORPHA:244242
Cockayne Syndrome B
Basal ganglia calcification, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris... OMIM:133540
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Rib fusion, Thin ribs, Urethral atresia, Single umbilical artery, Pulmonary hypopla... OMIM:271520
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... ORPHA:3429
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... ORPHA:314655
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Decreased fetal movement, Cerebral hemorrhage, Breech presentation, Subdura... OMIM:620278
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Relative macrocephaly, Decreased fetal movement, Cerebral white matter atrophy, Short stature, Mi... ORPHA:500055
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Dental enamel pits, Cerebral calcification, Gingival fibromatosis... OMIM:191100
Fanconi Anemia, Complementation Group S
Macrodontia, Short stature, Proximal placement of thumb, Microcephaly, Dental malocclusion, Narro... OMIM:617883
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Polyhydramnios, Brachycephaly, Downturned corners of mouth, High palate, Widely ... OMIM:618268
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Short femur, Dental crowd... OMIM:300990
Autoimmune Lymphoproliferative Syndrome
Abnormal bleeding, Renal insufficiency, Gastritis, Glomerulonephritis, Eosinophilia, Vasculitis, ... ORPHA:3261
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Microcephaly, Secundum atrial septal defect, Long hallux, High palate, Recurrent l... OMIM:620194
Birt-Hogg-Dube Syndrome 1
Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin... OMIM:135150
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera... ORPHA:77299
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right ventricular f... ORPHA:97287
Noonan Syndrome 3
Frontal bossing, Atrial septal defect, Ventricular septal defect, Short stature, Sagittal cranios... OMIM:609942
Monosomy 9P
Hypospadias, Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal... ORPHA:261112
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Ventricular septal defect, Proximal placement of thumb, Coxa valga, Diastema, Protru... OMIM:212066
Prader-Willi Syndrome
Polyhydramnios, Downturned corners of mouth, Short palm, Low 1-minute APGAR score, Micropenis, Sy... OMIM:176270
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Classic Homocystinuria
Gastrointestinal hemorrhage, Arachnodactyly, Dental crowding, Pulmonary embolism, Esophageal vari... ORPHA:394
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Frontal bossing, Short stature, Microcephaly, Cleft lip, Cleft palate, ... OMIM:301022
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Renal insufficiency, Short stature, Microcephaly, Chronic kidney disease, ... ORPHA:1667
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Trache... OMIM:614083
Hardikar Syndrome
Premature rupture of membranes, Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, P... OMIM:301068
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ova... ORPHA:2869
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Polydactyly, Apnea OMIM:616490
Hyperphosphatasia-Intellectual Disability Syndrome
Tented upper lip vermilion, Brachycephaly, Anteriorly placed anus, Downturned corners of mouth, H... ORPHA:247262
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly OMIM:617119
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Dilated cardiomyopathy, Ventricular tachycardi... OMIM:300952
Aicardi Syndrome
Partial agenesis of the corpus callosum, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Pa... ORPHA:50
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Secundum atrial septal defect, Postnatal ... OMIM:620242
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Decreased fetal movement, Recurrent infections du... ORPHA:70
Joubert Syndrome 27
Dilatation of the renal pelvis, Frontal bossing, Thick lower lip vermilion, Polydactyly OMIM:617120
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis ORPHA:403
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr... OMIM:136140
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Mitral regurgitation, Patent foramen ovale OMIM:225250
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short metatarsal, Finger clinod... OMIM:617137
Mogs-Cdg
Respiratory distress, Hypoventilation, Generalized edema, Apnea, Edema, Cardiomegaly, Polyhydramn... ORPHA:79330
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... OMIM:269150
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Selective tooth agenesis, Ventricular septal defect, Conical tooth, Cleft upper lip,... OMIM:106260
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung mo... ORPHA:141127
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Progressive macrocephaly, Ne... ORPHA:616
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Neonatal death, Atrial septal defect, Multicystic kidney dysplasia, Hypospadias, Short stature, H... OMIM:308205
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Mild postnatal growth retardation, Nonimmune hydrops fetalis, E... OMIM:265300
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Premature Aging Syndrome, Penttinen Type
Palmoplantar hyperkeratosis, Tibial bowing, Short palm, Midface retrusion, Short distal phalanx o... OMIM:601812
Velocardiofacial Syndrome
Ventricular septal defect, Short stature, Abnormality of the hand, Microcephaly, Velopharyngeal i... OMIM:192430
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly OMIM:619259
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Cerebellar vermis hypoplasia, Dental crowding, Metaphyseal widening, High palate, Clinodactyly of... OMIM:620083
Noonan Syndrome 9
Hydroureter, Ventricular septal defect, Short stature, Coarctation of aorta, Prolonged prothrombi... OMIM:616559
Noonan Syndrome 1
Lymphedema, High, narrow palate, High palate, Atrial septal defect, Abnormal bleeding, Hypospadia... OMIM:163950
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Adams-Oliver Syndrome 5
Syndactyly, Right atrial enlargement, Esophageal varix, Umbilical hernia, Pulmonic stenosis, Righ... OMIM:616028
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Myoclonic-Astatic Epilepsy
Syndactyly, Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide mouth, Long p... ORPHA:1942
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Ring Chromosome 12 Syndrome
Syndactyly, Microcephaly, Secundum atrial septal defect, High, narrow palate, Abnormal 5th finger... ORPHA:1439
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Decreased fetal movement, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short... OMIM:614207
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Microcephaly, Intraventricular... ORPHA:420741
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Finger clinodactyly, Premature arteriosclerosis, Short pal... ORPHA:79474
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Flat occiput, Microcephaly, Lymphedema, Deep philtrum, Thick lower lip ... OMIM:152950
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Hydrocephalus, Brachycephaly, Macrocephaly, Cone-shaped e... ORPHA:53271
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Cerebellofaciodental Syndrome
Ventricular septal defect, Single transverse palmar crease, Short stature, Tapered finger, Hypopl... OMIM:616202
Renal Agenesis, Bilateral
Fetal polyuria, Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, S... ORPHA:1848
Acrofrontofacionasal Dysostosis
Midface retrusion, Hypospadias, Camptodactyly of finger, Micromelia, Short stature, Non-midline c... ORPHA:1784
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Single transverse palmar crease, Polyhydramnios, Atrial septal defect, Clinodactyly of the 5th fi... ORPHA:459070
Coffin-Siris Syndrome 12
High palate, Hippocampal atrophy, Patent foramen ovale, Hypospadias, Short stature, Dolichocephal... OMIM:619325
Proteus Syndrome
Pulmonary embolism, Lymphedema, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, C... ORPHA:744
Vascular Hyalinosis
Cerebral calcification, Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing ente... OMIM:277175
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Urinary incontinence, Microcephaly OMIM:615284
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcephaly, Aplasia... ORPHA:364577
Bardet-Biedl Syndrome 6
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly OMIM:605231
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Cleft lip, Cleft palate, P... OMIM:619123
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... OMIM:619091
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Renal agenesis, Unilateral renal agenesis, Microcephaly, Esophageal atresia, Muscu... OMIM:619227
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, De... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, De... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, De... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, De... ORPHA:881
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... OMIM:616629
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac... OMIM:235750
Lethal Congenital Contracture Syndrome 9
Thin upper lip vermilion, Decreased fetal movement, Ulnar deviation of the hand, Polyhydramnios, ... OMIM:616503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c... OMIM:615287
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Villous atrophy, Edema, Renal cyst, Proximal tubulopathy, Protein-losing enter... OMIM:602579
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... OMIM:619339
Feingold Syndrome 1
Polyhydramnios, High palate, Short thumb, Short toe, Esophageal atresia, Patent ductus arteriosus... OMIM:164280
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, 2-3 finger syndactyly, Curved distal phalanges of t... ORPHA:3152
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth,... OMIM:614230
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Atransferrinemia
Congestive heart failure OMIM:209300
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
C Syndrome
Micromelia, Polyhydramnios, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Ab... ORPHA:1308
Chand Syndrome
Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abno... ORPHA:1401
8P11.2 Deletion Syndrome
Hypoplasia of penis, Short stature, Microcephaly, Patent ductus arteriosus, Mitral valve prolapse... ORPHA:251066
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Treacher-Collins Syndrome
Hypoplasia of penis, Brachycephaly, Glossoptosis, High palate, Encephalocele, Branchial fistula, ... ORPHA:861
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Sacroiliac arthritis, Arrhythmia, Inflammation of the large intestine OMIM:106300
Joubert Syndrome 35
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, S... OMIM:618161
Woods Syndrome
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Thin... OMIM:615236
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Aplasia/Hypoplasia of the tibia, Meningocele, Brachycephaly, Pat... ORPHA:1827
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Cerebral calcification, Absence of renal corticomedullary differe... OMIM:613254
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Pontocerebellar Hypoplasia, Type 17
Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Secundum atrial ... OMIM:619909
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... ORPHA:231625
Distal Deletion 3P
Short stature, Microcephaly, Postaxial hand polydactyly, Brachycephaly, Cleft palate, Downturned ... ORPHA:1620
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Aganglionic megacolon, Hypospadias, Short stature, Microcephaly, Cleft palate,... ORPHA:66629
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Lens coloboma, Coarcta... ORPHA:42775
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Edem... OMIM:602522
Chromosome 17Q12 Deletion Syndrome
Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Short stature, Renal... OMIM:614527
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea OMIM:133100
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine ORPHA:51208
Hartsfield Syndrome
Syndactyly, Median cleft lip, Hypospadias, Craniosynostosis, Alobar holoprosencephaly, Cleft uppe... OMIM:615465
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Cardiomegaly, Long f... OMIM:256040
Retinitis Pigmentosa 89
Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly OMIM:618955
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Short stature, Thick lower lip vermilion, Dental malo... ORPHA:2563
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Short stature, Hypoplastic ilia, Hypoplastic ac... OMIM:169550
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... ORPHA:73224
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Atrial septal defect, Short stature, Homocystinuria, Dextrocardia, Cyst... OMIM:277380
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Microdontia, Atrial septal defect, Bifid... OMIM:613458
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Split hand, Cl... OMIM:600460
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyl... OMIM:217100
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature, Patent ductus arteriosus, Recurrent pneumonia, High pal... OMIM:300472
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Intestinal malrotation, Hypoxemia ORPHA:2140
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Downturned corners ... ORPHA:3455
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma... ORPHA:284160
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pericallosal lipoma, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle ... ORPHA:306542
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Portal hypertension, Hiatus hernia, Sagittal craniosynostosis, Pancreat... OMIM:610199
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Tented upper lip vermilion, Apnea, Rocker bottom foot, Single transverse palmar... OMIM:617527
Aspartylglucosaminuria
Recurrent respiratory infections, Aspartylglucosaminuria, Short stature, Microcephaly, Thick lowe... OMIM:208400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Breech presentation... OMIM:614653
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Frontal bossing, Atrial septal defect, Vent... OMIM:118450
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Frontorhiny
Encephalocele, Pericallosal lipoma, Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of ... ORPHA:391474
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Cleft palate, High palate, Ma... ORPHA:52055
Skin Creases, Congenital Symmetric Circumferential, 1
Microcephaly, Long fingers, Narrow mouth, Brachycephaly, Cleft palate, High palate, Hypoplasia of... OMIM:156610
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Dietary Iron Overload Disease
Congestive heart failure, Esophageal carcinoma, Abnormal heart morphology ORPHA:139507
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Microcephaly, Widely spaced teeth, Clinodactyly OMIM:619092
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Ventricular septal defect, Reduced cerebral white matter volume, Hypo... OMIM:614961
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Episodic tachypnea, Microcephaly OMIM:615160
Listeriosis
Respiratory distress, Pericarditis, Premature birth, Pneumonia, Myocarditis, Congestive heart fai... ORPHA:533
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Microcephaly, Intraventricular hemorrhage, Prolonged prothrombin time, Aminoaciduria, Neonatal de... OMIM:619055
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Cerebral calcification, Ventricular septal ... ORPHA:1782
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali... OMIM:616749
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Exertional dyspnea, Abnormal urinary color ORPHA:90037
Distal Deletion 6P
Atrial septal defect, Ventriculomegaly, Abnormality of the dentition, Orofacial cleft, Short foot... ORPHA:96125
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Atrial septal defect, Recurrent respiratory infections, Severe short stature, Ventricular septal ... ORPHA:3047
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... OMIM:210720
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligodactyly, Fibular hypo... ORPHA:1788
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Cleft lip, Patent ductus arteriosus, Brachycephaly, Narrow palate, Cleft palate, C... OMIM:618223
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal... ORPHA:2980
Melnick-Needles Syndrome
Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses of the phalanges of the hand, Short clavi... OMIM:309350
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Myocardial infarction,... OMIM:150230
Donnai-Barrow Syndrome
Ventricular septal defect, Proteinuria, Intestinal malrotation, Aplasia/Hypoplasia of the corpus ... ORPHA:2143
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Growth del... OMIM:600268
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Semilobar Holoprosencephaly
Central apnea, Median cleft lip, Short stature, Proboscis, Microcephaly, Abnormal pattern of resp... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Median cleft lip, Short stature, Proboscis, Microcephaly, Abnormal pattern of resp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Median cleft lip, Short stature, Proboscis, Microcephaly, Abnormal pattern of resp... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Median cleft lip, Short stature, Proboscis, Microcephaly, Abnormal pattern of resp... ORPHA:93924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Respiratory fai... OMIM:616538
Saethre-Chotzen Syndrome
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5... OMIM:101400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Downturned corners of ... OMIM:619522
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Aortic ro... OMIM:616652
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormality of the dentition, Cereb... ORPHA:3224
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Exaggerated cupid's bow, Spina bifida, Tapered finger, Dolichocephaly, Cyst of t... OMIM:619480
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea... OMIM:305400
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Laurence-Moon Syndrome
Micropenis, Short stature, Polydactyly, Abnormality of the hand OMIM:245800
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Mosaic Trisomy 20
Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, Cleft lip, Dysplast... ORPHA:1724
Hypermethioninemia Due To Adenosine Kinase Deficiency
Frontal bossing, Secundum atrial septal defect, Cerebral atrophy, Coarctation of aorta, Prolonged... OMIM:614300
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Keutel Syndrome
Cerebral calcification, Ventricular septal defect, Recurrent bronchitis, Short hallux, Sinusitis,... OMIM:245150
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, High, narrow palate, Supernumerary tooth, Small hand, Oligodont... ORPHA:1787
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Renal salt wasting, Long penis, Polycystic ovaries, Intracranial hemorrhage, Hyper... ORPHA:90795
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Hypospadias, Cerebral white matter hypoplasia, Tapered finger, Abnormal... ORPHA:477993
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Arachnodactyly, Microcephaly, Oligohydramnios, Ascending tubula... OMIM:219100
Dominant Beta-Thalassemia
Frontal bossing, Bowing of the long bones, Abnormality of the dentition, High-output congestive h... ORPHA:231226
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Craniosynostosis, Coxa valga, Microcephaly, Brachycephaly, Plagiocephaly, Holopros... ORPHA:2163
Legius Syndrome
Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolithiasis, Mit... ORPHA:137605
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Bilateral single transverse ... ORPHA:3253
Gabriele-De Vries Syndrome
Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Craniosynostosis, ... ORPHA:506358
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Hypospadias, Single transverse palmar crease, Short statur... OMIM:223370
Cockayne Syndrome
Cerebral calcification, Urinary incontinence, Basal ganglia calcification, Retinal arteriolar con... ORPHA:191
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Situs inversus totalis, Microcephaly OMIM:619881
Sotos Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Pedal edema, Increase... ORPHA:821
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Brachycephaly, Downturned corners of mouth, Parietal bossing, Agen... OMIM:264090
Holoprosencephaly 2
Median cleft lip and palate, Proboscis, Alobar holoprosencephaly, Microcephaly, Submucous cleft h... OMIM:157170
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Short stature, Microcephaly, Submucous cleft hard palate, Cerebral atrophy, Aortic r... OMIM:618891
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestinal malrotation... OMIM:243150
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Micropenis, Hip dysplas... OMIM:300895
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... OMIM:616307
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Alzahrani-Kuwahara Syndrome
Frontal bossing, Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Microcephaly, V... OMIM:619268
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Glosso... OMIM:618021
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta, Short stature, Brachycephaly ORPHA:1514
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Trigonocephaly, Microcephaly, ... ORPHA:1587
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Dyspnea, Shoulder girdle muscle weakness, Patent foramen ovale, Exertional dyspnea OMIM:615156
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Hypospadias, Short stature, Tapered finger, Carious teeth, Long fingers... OMIM:616734
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Hyperphosphaturia, Short stature, Abnormal toe morphology, Abnormal ... OMIM:163200
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Brachycephaly, Posterior plagiocephaly, High palate, Bifid uvula, L... OMIM:620330
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Tricuspid regurgitation, Thick vermilion border, Biparietal narrowing, Long philtrum, Clinodactyl... ORPHA:228396
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Short stature, Ectopic kidney, Patent ductus art... OMIM:613309
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Microcephaly, Hypoplasia ... OMIM:618325
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... DECIPHER:81
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Growth delay, Short stature OMIM:620211
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Subarachnoid hemorrhage, Functional abnormality of t... ORPHA:247245
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... ORPHA:85167
Kbg Syndrome
Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Short statu... OMIM:148050
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, A... ORPHA:2211
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t... OMIM:607823
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep... OMIM:108900
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Short stat... ORPHA:783
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Dyspnea, Low-output congestive heart failure, Cardiomyopathy, Renal artery ather... ORPHA:565612
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Mel... ORPHA:100080
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyl... ORPHA:2907
Craniofrontonasal Syndrome
Frontal bossing, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Cleft upper l... OMIM:304110
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Crane-Heise Syndrome
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ... ORPHA:1512
Magel2-Related Prader-Willi-Like Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Decreased fetal movement, Short statu... ORPHA:398069
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Generalized Pustular Psoriasis
Renal insufficiency, Congestive heart failure, Cheilitis, Pedal edema, Geographic tongue ORPHA:247353
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Rieger anomaly, Tented upper lip vermilion, Abnormality of the kidney, Tapered finger, Microcepha... ORPHA:521445
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Breech presentation, Proximal renal tubular acidosis, Intrauterine growth ... OMIM:615824
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Carney Complex, Type 1
Palatine myxoma, Cardiac myxoma, Congestive heart failure OMIM:160980
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Macul... ORPHA:892
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist... ORPHA:1234
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100082
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Ventricular septal defect, Tarsal synostosis, Craniosynostosis, Microcephaly, Sh... OMIM:178110
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Turricephaly, Severe short stature, Abnormal dental enamel morphology, Microce... ORPHA:1005
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Narrow palate, Abnormal calvaria morph... ORPHA:1323
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Single transverse palmar crease, Short... OMIM:614947
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Trigonocephaly, Carious teeth, Pyloric stenosis, Eclabion, Microphtha... OMIM:616395
X-Linked Intellectual Disability, Armfield Type
Midface retrusion, Short stature, Patent ductus arteriosus, Abnormality of the elbow, Small hand,... ORPHA:85276
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Mild postnatal growth retardation, Hydrops fetalis OMIM:224120
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brach... OMIM:613819
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Cerebral white matter atrophy, Secundum atrial septal defect, Abnormal glob... ORPHA:99646
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Eem Syndrome
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact... ORPHA:1897
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... OMIM:126320
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Frontal bossing, Optic nerve hypo... OMIM:620029
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Exertional dyspnea, Abnormal urinary color ORPHA:90033
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Ren... OMIM:615560
Ramos-Arroyo Syndrome
Respiratory distress, Frontal bossing, Severe short stature, Aganglionic megacolon, Carious teeth... ORPHA:1051
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... OMIM:609049
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure ORPHA:75564
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... OMIM:617666
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Frontal bossing, Secundum atrial septal defect, Brachycephaly, Wide mou... OMIM:608688
Beta-Thalassemia Major
Frontal bossing, Bowing of the long bones, Abnormality of the dentition, High-output congestive h... ORPHA:231214
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Premature birth, Abnormal tibia morphology, ... ORPHA:2492
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Nasopalpebral Lipoma-Coloboma Syndrome
Microcephaly, Bilateral microphthalmos, Recurrent upper respiratory tract infections, Severe post... ORPHA:2399
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Myopathy With Extrapyramidal Signs
Tented upper lip vermilion, Ventricular septal defect, Hypoplastic anterior limbs of the internal... OMIM:615673
Abeta Amyloidosis, Dutch Type
Cerebral calcification, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Campomelia, Cumming Type
Bowing of the long bones, Short stature, Lymphedema, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Microcephaly, Absent radius, Preaxial han... ORPHA:233
Hypomandibular Faciocranial Dysostosis
Pursed lips, Patent ductus arteriosus, Aglossia, Atrial septal defect, Coronal craniosynostosis OMIM:241310
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Cerebral atroph... ORPHA:646
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microcephaly, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neo... ORPHA:891
Oculo-Palato-Cerebral Syndrome
Short stature, Microcephaly, High, narrow palate, Asthma, Small hand, Cleft palate, Aplasia/Hypop... ORPHA:2714
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia, Respiratory insufficiency ORPHA:682
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, High, narrow palate, Abnormality of the gingiva, Epispadias, Cox... ORPHA:3107
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Jejunal atresia, Absent septum pellucidum, Ileal atresia, Hypospadias, Acrania, Dyspl... OMIM:618820
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn... OMIM:618061
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Wrist flexion contracture, Multiple renal cysts, Talipes equinovarus, Reduc... OMIM:618733
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Oligohydr... OMIM:619573
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Bruising susceptibility, Short stature, Arterial rupture OMIM:619115
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra... OMIM:618775
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... OMIM:618727
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Prolonged prothrombin time, Ascites, Nonimmune hydrops fetalis OMIM:617049
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney OMIM:613464
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Turricephaly, Short stature, Symphalangism affecting the phalan... ORPHA:710
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip OMIM:214300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Frontal bossing, Short stature, Macrocephaly, Clinodactyly of the 5th fing... OMIM:617306
Craniotubular Dysplasia, Ikegawa Type
Thickened calvaria, Metaphyseal dysplasia, Thick upper lip vermilion, Ventricular septal defect, ... OMIM:619727
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Hypoplasia of the i... OMIM:602482
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe, Midface retrusion OMIM:612581
Bor Syndrome
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... ORPHA:107
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Apnea, Deep philtrum, Aspiration pneumonia, Atrial septal defect, Vesicour... ORPHA:438213
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Microcephaly, Brachycephaly, H... ORPHA:1236
Pmm2-Cdg
Respiratory distress, Cerebellar vermis hypoplasia, Lymphedema, Intracranial hemorrhage, High pal... ORPHA:79318
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, High, narrow palate, Menin... ORPHA:2789
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Widely space... OMIM:619539
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Postnatal growth retardation, Renal cyst, Prolonged prothrombin time, Steatorrhea, Fa... ORPHA:79303
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Rapp-Hodgkin Syndrome
Syndactyly, Hypospadias, Short stature, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cu... OMIM:129400
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Large placenta, Abnormal... ORPHA:254534
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Severe short stature, Nonimmune hydro... OMIM:256540
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Malignant Hyperthermia Of Anesthesia
Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Cardiomyoc... ORPHA:423
Meningioma
Urinary incontinence, Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephal... ORPHA:2495
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuos... OMIM:175780
Carcinoid Syndrome
Tricuspid regurgitation, Right ventricular failure, Asthma, Heart murmur, Bronchospasm, Palpitati... ORPHA:100093
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Bicuspid aortic valve, Short stature, Microcephaly, Secundum atrial septal defect, Long... OMIM:613355
Grange Syndrome
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... OMIM:602531
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Short stature, Short thum... OMIM:268400
Primary Sclerosing Cholangitis
Renal insufficiency, Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Celi... ORPHA:171
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup... OMIM:619306
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu... OMIM:618901
Abetalipoproteinemia
Abnormal bleeding, Cardiomegaly, Congestive heart failure, Prolonged prothrombin time, Respirator... ORPHA:14
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcifi... ORPHA:2072
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Ventricular septal defect, Growth delay, Hypothalamic hamartoma, Thin c... OMIM:619908
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Thin upper lip vermilion, Short stature, Microcephaly, Subdural hemorrhage, Macrocephaly, Cavum s... OMIM:619714
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hypermagnesi... ORPHA:428
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Abnormal pattern of respiration, Abnormal ... ORPHA:90062
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric ac... OMIM:557000
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Protein-losin... OMIM:619991
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Cardiomegaly, Subchorionic septal cyst, Vesicoureteral refl... ORPHA:116
Holoprosencephaly 3
Proboscis, Microcephaly, Cleft lip, Cleft palate, Hydronephrosis, Holoprosencephaly, Midface retr... OMIM:142945
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Thin long bone diaphyses, Short stature, Intraventricular hemorrhage, Hip dislocat... OMIM:616507
Omodysplasia 1
Short humerus, Frontal bossing, Rhizomelia, Increased fibular diameter, Ventricular septal defect... OMIM:258315
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... OMIM:614868
Johanson-Blizzard Syndrome
Single transverse palmar crease, Downturned corners of mouth, Anteriorly placed anus, Atrial sept... OMIM:243800
Bloom Syndrome
Syndactyly, Microcephaly, Postnatal growth retardation, Recurrent upper respiratory tract infecti... OMIM:210900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... OMIM:614800
3Mc Syndrome 3
Short stature, Cleft upper lip, Preaxial polydactyly, Cleft palate, Micropenis, Horseshoe kidney,... OMIM:248340
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
African Trypanosomiasis
Abnormal basal ganglia MRI signal intensity, Abnormal EKG, Pericarditis, Renal insufficiency, Pre... ORPHA:3385
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Dolichocephaly OMIM:167730
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Conica... OMIM:263750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Polyhydramnios, Neoplasm of th... ORPHA:2241
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Ventricular septal defect, Microcephaly, Metatarsus adductus, Abnorm... ORPHA:513456
Faciocardiorenal Syndrome
Horseshoe kidney, Cleft palate, Plagiocephaly, Endocardial fibroelastosis, Hypodontia, Tricuspid ... ORPHA:1973
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural effusion, Ascites OMIM:306400
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Microcephaly, Postnatal growth retardation, Short thumb, Nephroblastoma OMIM:610832
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Asthma, 2-3 toe syndactyly, Atria... OMIM:619471
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricular failure, Hem... ORPHA:100075
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Brachycephaly, Cerebellar vermis hypoplasia, Polymicrogyria OMIM:612379
Joubert Syndrome 33
Syndactyly, Apnea, Macrocephaly OMIM:617767
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Postnatal growth retardat... ORPHA:96191
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... OMIM:615512
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... ORPHA:2973
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Congestive heart failure, 4... OMIM:617156
Spondyloocular Syndrome
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Abnormality of the den... OMIM:605822
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Diffuse white matter abnormali... ORPHA:1934
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Linear Nevus Sebaceus Syndrome
Frontal bossing, Ventriculomegaly, Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia... ORPHA:2612
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Hypocitraturia, Respiratory insufficiency due to muscle weaknes... ORPHA:18
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Renal cyst OMIM:614862
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect, Thin upper lip vermilion, Microcephaly, Long philtrum OMIM:618665
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... OMIM:145001
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpholo... ORPHA:2363
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... ORPHA:178303
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Short stature, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligod... OMIM:201180
Diets-Jongmans Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short stature, Polyhydramnios, ... OMIM:618846
Bdv Syndrome
Atrial septal defect, Micropenis, Delayed puberty OMIM:619326
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Abnormal heart mor... ORPHA:2237
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Thin upper lip vermilion, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes... ORPHA:522077
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ... ORPHA:794
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Senior-Boichis Syndrome
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Portal hypertension, Chron... ORPHA:84081
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr... ORPHA:1896
Combined Oxidative Phosphorylation Deficiency 3
Decreased fetal movement, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric h... OMIM:610505
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly OMIM:618087
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Vitreous hemorrhage, Retinal arteriolar constriction, Retinal neova... OMIM:193220
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum ORPHA:1252
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Ventricular septal defect, Premature birth, Microcephaly, Growth delay,... OMIM:619418
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Short stature, Microcephaly, Malabsorption, Asthma, Telangiectasia, Micro... OMIM:601675
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Lesch-Nyhan Syndrome
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria OMIM:300322
Ayme-Gripp Syndrome
Smooth philtrum, Thin upper lip vermilion, Pericarditis, Short stature, Tapered finger, Abnormali... OMIM:601088
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Osteopetrosis With Renal Tubular Acidosis
Cerebral calcification, Prominent floating ribs, Basal ganglia calcification, Brachycephaly, High... ORPHA:2785
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Pituitary dwarfism, Absent septum pellucidum, Optic nerve hypoplasia, Abno... ORPHA:95494
Hereditary Elliptocytosis
Postnatal growth retardation, Frontal bossing, Hydrops fetalis ORPHA:288
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Short stature, Eosinophilia, Conical tooth, M... OMIM:308300
Sclerosteosis 1
Syndactyly, Frontal bossing, 2-3 finger syndactyly, Dental malocclusion, Facial palsy secondary t... OMIM:269500
Diphallia
Ureteral duplication, Atrial septal defect, Rectoperineal fistula, Hypospadias, Renal duplication... ORPHA:227
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... OMIM:615989
Blepharocheilodontic Syndrome 2
Tooth agenesis, Cleft lip, Conical tooth, Cutaneous syndactyly OMIM:617681
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Deep philtr... OMIM:227330
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Axial Osteomalacia
Renal cyst OMIM:109130
Joubert Syndrome 17
Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly, Hy... OMIM:614615
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Micropenis, Prominent... ORPHA:96123
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Nonimmune hydrops fetalis OMIM:266200
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Frontal bossing, Severe short stature, Proximal placement of thumb, Micr... OMIM:615789
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Apnea, Optic nerve hypoplasia, Microcephaly, Secundum atrial septa... OMIM:609069
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cerebellar vermis hypoplasia, Hypospadias, Optic nerve hypoplasia, Microcephaly, Hypoplasia of th... ORPHA:495875
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia ORPHA:1997
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... ORPHA:1071
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Buphthalmos, Retinal nonattachment, Microphthalmia, Iris... OMIM:221900
Immunodeficiency 96
Conjunctival telangiectasia, Recurrent lower respiratory tract infections, Multicystic kidney dys... OMIM:619774
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl... OMIM:609128
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Dolicho... OMIM:618505
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia, Polymicrogyria OMIM:614520
Neutral Lipid Storage Myopathy
Short stature, Hand muscle weakness, Congestive heart failure, Cardiomyopathy, Shoulder girdle mu... ORPHA:98908
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Primary microcephaly, Atrial septal defect, Cere... ORPHA:457351
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Culler-Jones Syndrome
Short stature, Postaxial polydactyly, Cleft upper lip, Cleft palate, Micropenis, Midface retrusion OMIM:615849
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Syndactyly, Enamel hypoplasia, Pyloric stenosis OMIM:226700
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Short philtrum, Tricuspid valv... ORPHA:96129
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage, Conical tooth OMIM:301081
Peroxisome Biogenesis Disorder 1B
Epiphyseal stippling, Hyperoxaluria, Midface retrusion, Renal cyst OMIM:601539
Aceruloplasminemia
Congestive heart failure, Abnormal corpus striatum morphology ORPHA:48818
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Mody
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Intrauterine growth retardation ORPHA:552
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Short stature, Microcephaly, Growth delay, Macroglossia, Atrial septal defect ORPHA:93947
Faciocardiomelic Syndrome
Microcephaly, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis... OMIM:612731
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... OMIM:302350
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Cereb... ORPHA:261265
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... ORPHA:137914
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Larsen Syndrome
Finger syndactyly, Short stature, Craniosynostosis, Accessory carpal bones, Cleft palate, Respira... ORPHA:503
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Pulmonary fibrosis OMIM:611926
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... ORPHA:570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphtha... OMIM:253280
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Wrist swelling, P... OMIM:309000
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level ORPHA:199244
Dohle Bodies And Leukemia
Secundum atrial septal defect, Lymphedema OMIM:223350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio... OMIM:605432
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic aneurysm ORPHA:35125
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... OMIM:609638
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Syndactyly, Short stature OMIM:615631
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Peptic ulcer, Shortened QT interval, Nephrolithiasis, Renal... ORPHA:99880
Carney Complex
Ovarian dermoid cyst, Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Car... ORPHA:1359
Alström Syndrome
Respiratory distress, Abnormality of dental color, Urinary incontinence, Functional abnormality o... ORPHA:64
Hepatoerythropoietic Porphyria
Abnormal bleeding, Erythrodontia, Nonimmune hydrops fetalis, Edema, Red urine, Red-brown urine, A... ORPHA:95159
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Peptic ulcer, Shortened QT interval, Nephrolithiasis, Renal... ORPHA:143
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Beta-Thalassemia Intermedia
High-output congestive heart failure, Proximal tubulopathy, Pulmonary arterial hypertension ORPHA:231222
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... ORPHA:246
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria OMIM:258900
Diamond-Blackfan Anemia 5
Ventricular septal defect, Hypospadias, Short stature OMIM:612528
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Anal atresia OMIM:260450
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature, Microcephaly, Metaphyseal widening, Phthisis bulbi, Tib... OMIM:259770
Pili Torti-Onychodysplasia Syndrome
Cleft lip, Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly ORPHA:2890
Camptobrachydactyly
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... OMIM:114150
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, High palate, Coronary-pulmonary artery fistula OMIM:619699
Acute Transverse Myelitis
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Paralytic ileus, Hyperten... ORPHA:139417
Diamond-Blackfan Anemia 4
Atrial septal defect, Growth delay, Short stature OMIM:612527
Congenital Erythropoietic Porphyria
Abnormal bleeding, Erythrodontia, Nonimmune hydrops fetalis, Edema, Red-brown urine, Porphyrinuri... ORPHA:79277
Neurofibromatosis-Noonan Syndrome
Short stature, Secundum atrial septal defect, Thick vermilion border, Pulmonic stenosis, Macrocep... OMIM:601321
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Dental malocclusion, High palate, Short finger, Microphthalmia, Cub... OMIM:601552
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Frontal bossing, Short stature, Down-sloping shoulders, Open bite, Deep philtr... ORPHA:1974
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Patent foramen ovale, Coarctation of aorta, Ant... OMIM:618748
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Hammertoe, Muscul... OMIM:601992
Craniosynostosis And Dental Anomalies
Flat occiput, Dental crowding, Brachycephaly, Coronal craniosynostosis, High palate, Short phalan... OMIM:614188
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Brachycephaly, Femoral bowing, Anteriorly placed anus, Micropenis, Caesarian section, Cloverleaf ... OMIM:201750
Von Hippel-Lindau Syndrome
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Hypertension, Renal cell carcinoma, Multip... OMIM:193300
Kindler Epidermolysis Bullosa
Urethral stricture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Shor... ORPHA:2908
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Frontofacionasal Dysplasia
Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Mic... OMIM:229400
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation ORPHA:404451
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly, Abnormal neuron morphology, Intermittent hype... ORPHA:163681
Caroli Disease
Ascites, Esophageal varix, Polycystic kidney dysplasia, Portal hypertension ORPHA:53035
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst OMIM:617100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Micr... OMIM:603457
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Microcephaly, Corneal neovascularization, Telangiectasia OMIM:278730
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Patent foramen ovale OMIM:618832
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... ORPHA:93325
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... ORPHA:93111
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... ORPHA:1300
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula OMIM:149000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short stature, Abnormal mitral valve morphology, Short hard palate, Genu varum ORPHA:1969
Norrie Disease
Retinal detachment, Diabetes mellitus, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid va... ORPHA:649
Caroli Syndrome
Abnormal bleeding, Abnormality of the kidney, Portal hypertension, Hematemesis, Esophageal varix,... ORPHA:480520
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
Spinocerebellar Ataxia Type 7
Congestive heart failure, Cerebral atrophy ORPHA:94147
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Rectal... ORPHA:436252
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Short lingual frenulum, Craniosynostosis, Unilateral brachydactyly, Wide mouth, Plagi... ORPHA:1521
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Microcephaly, Short stature, Con... ORPHA:808
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Treacher Collins Syndrome 1
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,... OMIM:154500
Isolated Arrhinia
Microphthalmia ORPHA:1134
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Moder... OMIM:619525
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly OMIM:616562
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Spli... ORPHA:978
Immunodeficiency 47
Tricuspid regurgitation OMIM:300972
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637

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 Pcnt

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 Pcnt.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation. JCI insight (November 2023) Pcnttm1a(EUCOMM)Wtsi PMC10721278

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
Pcnttm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pcnttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pcnttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcntem1(IMPC)Mbp Exon Deletion Mice, Tissue

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