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Gene: Zic2 MGI:106679

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein of the cerebellum 2
Synonyms:
GENA 29,  Ku,  odd-paired homolog

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Zic2 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 predicted to be associated to Zic2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism, Dolichocephaly ORPHA:1931
Acalvaria
Calvarial skull defect, Hydrocephalus, Spina bifida, Hypertelorism, Holoprosencephaly ORPHA:945
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Humero-Radial Synostosis
Limitation of joint mobility, Elbow dislocation, Abnormality of the wrist, Microcephaly, Aplasia/... ORPHA:3265
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Distal Deletion 13Q
Optic atrophy, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1590
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Trigonocephaly, An... OMIM:609637
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Limitation of joint mobility, Aplasia/Hypoplasia of t... ORPHA:2570
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo... ORPHA:244
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callosum, Hydrocephalus... OMIM:614120
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal ... ORPHA:64754
Mental retardation, x-linked, syndromic, Turner type
Tapered finger, Holoprosencephaly, Limited elbow extension, Macrocephaly OMIM:300706
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Thoracic aortic aneurysm, Dextr... OMIM:619657
Holoprosencephaly 3
Depressed nasal bridge, Proptosis, Abnormality of the nose, Proboscis, Short columella, Hypotelor... OMIM:142945
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly, Multiple joint contractures OMIM:306990
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Ring Chromosome 21 Syndrome
Small hand, Spasticity, Clinodactyly, Thoracic hemivertebrae, Narrow palm, Microcephaly, Fused th... ORPHA:1445
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Microhydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Multiple joint contractures, Agenesis of corpus cal... OMIM:605013
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Joint stiffness, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus... ORPHA:2182
Intellectual Developmental Disorder, Autosomal Recessive 3
Progressive microcephaly, Short attention span, Hyperactivity OMIM:608443
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Ence... ORPHA:1908
Pseudotrisomy 13 Syndrome
Cyclopia, Median cleft palate, Encephalocele, Hypotelorism, Cryptorchidism, Ventricular septal de... OMIM:264480
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Hypotelorism, Midnasal stenosis, Coloboma, Abnormal nasopharynx morphol... OMIM:147250
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Spina bifida, Smal... OMIM:211960
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference, Tapered finger OMIM:619033
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Cerebral cortical atrophy, Spasticity, Holoprosencephaly, Microcephaly ORPHA:2523
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Short attention span, Dysplastic corpus callosum, Abnormal cerebral white matte... ORPHA:500166
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... OMIM:611134
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Hydrocephalus, Macrocephaly, ... ORPHA:53271
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Aplasi... ORPHA:2378
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, Neonatal death, Ce... OMIM:236500
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,... ORPHA:968
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Sacral dimple, Cerebellar hypoplasia, Postax... OMIM:614175
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb ... ORPHA:93351
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... OMIM:617967
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Holoprosencephaly, Proptosis, Hypertelorism ORPHA:2165
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Craniotelencephalic Dysplasia
Craniosynostosis, Hypotelorism, Frontal encephalocele OMIM:218670
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Distal Monosomy 7Q36
Optic atrophy, Bilateral single transverse palmar creases, Microcephaly, Short neck, Hypertonia, ... ORPHA:1636
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Abnormal form of the vertebral bodies,... ORPHA:2839
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Micromelia, Encephalocele, Joint hypermobility, Brac... ORPHA:93274
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo... ORPHA:3250
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Abnormal palmar dermatoglyphics, Toe syndactyly,... ORPHA:3246
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Hypotelorism, Ventricula... OMIM:619123
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... ORPHA:1666
Dysplasia Epiphysealis Hemimelica
Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff... ORPHA:1822
Hartsfield Syndrome
Depressed nasal bridge, Encephalocele, Hypertelorism, Craniosynostosis, Lobar holoprosencephaly ORPHA:2117
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum, Short attention span, Dysphagia, Bradyphrenia ORPHA:200
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Mosaic Trisomy 9
Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphology, Endocardial fibr... ORPHA:99776
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Short distal phalanx of finger OMIM:601355
Holoprosencephaly 11
Holoprosencephaly, Proptosis, Hypotelorism OMIM:614226
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Absent septum pellucidum, Holoprosencephaly, Scoliosis... OMIM:601357
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Abnorma... ORPHA:2496
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Bile duct prol... OMIM:208540
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Absent vertebra, Myelomeningoc... ORPHA:63259
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Pterygium, Agenesis of corpus callo... OMIM:225790
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Holoprosencephaly, Absent nares, Aplasia/Hypoplasia involving the nose ORPHA:990
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Hypotelorism, Ventricular septal defect, Anal atres... OMIM:612946
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Hypotelorism, Midnasal stenosis, Cyclopia... ORPHA:280200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Upper limb pain, Paresis of extensor muscles of the big toe, Poor fine motor coordination, Hand t... ORPHA:99947
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Cryptorchidism, Deeply set eye,... ORPHA:2162
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Right aortic arch, Dextrocardia, Bronchiectasis OMIM:617577
Congenital Vertical Talus
Abnormality of the foot musculature, Myelomeningocele, Ankle pain, Equinus calcaneus, Distal arth... ORPHA:178382
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial hand pol... OMIM:611561
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo... ORPHA:1106
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Hypotelorism, Deeply set eye ORPHA:251046
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Xk Aprosencephaly Syndrome
Hypotelorism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia ORPHA:3469
Cerebrooculonasal Syndrome
Proboscis, Frontal bossing, Anteverted nares, Prominent nasal bridge, Encephalocele, Brachycephal... OMIM:605627
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Delayed skeletal maturation, Camptodac... ORPHA:1327
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Nievergelt Syndrome
Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta... OMIM:163400
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Microphthalmia/Coloboma 5
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Deeply set eye, Ventricular septal defect, Bicuspid aortic ... OMIM:265380
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypotelorism, Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Patent du... OMIM:618330
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callosum, Irritability, Microcephal... OMIM:616657
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly, Facial palsy, Abnormality of bone mineral d... ORPHA:1114
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Pes cavus, Limited elbow extension, Pes planus, Coxa var... OMIM:615155
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla... ORPHA:1147
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Anophthalmia, Ventricular septal... OMIM:615524
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... OMIM:618469
Holoprosencephaly 14
Alobar holoprosencephaly, Proboscis, Anteverted nares, Hydrocephalus, Aqueductal stenosis, Cyclop... OMIM:619895
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Recurrent sinu... OMIM:615482
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... OMIM:185800
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Delayed skeletal maturation, Hypoplastic vertebral bodies, Microc... ORPHA:2163
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Spina bifida, Hypertelorism, Iris coloboma ORPHA:1104
Hydrolethalus
Micromelia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Postaxial hand ... ORPHA:2189
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Memory impairment, Lateral ventricle dilatation, Inappropriate behavior, Cer... OMIM:221770
Jackson-Weiss Syndrome
Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m... OMIM:123150
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb... ORPHA:3219
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Proximal placement of thumb, Kyphosis, Agenesis of corpus callosum OMIM:615433
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Alobar holoprosencephaly, Semilobar holoprosence... OMIM:301043
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Ence... ORPHA:564
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Muscle-Eye-Brain Disease
Optic atrophy, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hyper... ORPHA:588
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow contracture, Elbow ... OMIM:178110
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Semilobar ... OMIM:601370
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Cyclopia, Abnormal lung lobation, Encephalocele, Hypote... ORPHA:2166
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Abnormal optic disc morphology, Comp... ORPHA:363417
Masa Syndrome
Spastic paraplegia, Paraplegia, Pes cavus, Agenesis of corpus callosum, Microcephaly, Talipes equ... OMIM:303350
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... OMIM:605282
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy... OMIM:186400
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Diastomatomyelia,... ORPHA:1759
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Talonavicular Coalition
Abnormality of the ankle, Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finge... OMIM:186750
Diprosopus
Anencephaly ORPHA:1681
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Short neck, Narrow pelvis bone, ... ORPHA:66637
Joubert Syndrome 15
Ataxia, Oculomotor apraxia, Exencephaly, Preaxial polydactyly OMIM:614464
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Communicating hyd... OMIM:244400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso... OMIM:314390
Anencephaly 2
Anencephaly OMIM:619452
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Opisthotonus, ... OMIM:207950
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Hypotelorism, Deeply set eye,... ORPHA:250999
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Dysg... ORPHA:300573
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Optic atrophy, Limitation of joint mobility, Agenesis of corpus cal... ORPHA:99742
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Loss of ambulation, Abnormal cerebral whit... OMIM:620315
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 72
Bulbous nose, Spina bifida, Deeply set eye OMIM:620439
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Ag... OMIM:601186
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of... ORPHA:1657
Waardenburg Syndrome, Type 3
Spastic paraplegia, Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly... OMIM:148820
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Caudal Duplication
Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ... ORPHA:1756
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Prominent metopic ridge, Agen... OMIM:619148
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, Talocalca... OMIM:147891
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Hypertelorism OMIM:277740
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Talipes, Split hand, ... ORPHA:1335
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Kyphosis, Abnormal ver... ORPHA:3121
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Triploidy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Decreased skull ossification, Short... ORPHA:3376
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Hypotelorism, Absent na... OMIM:142946
Trisomy 18
Iris coloboma, Cyclopia, Cryptorchidism, Ventricular septal defect, Anal atresia, Esophageal atre... ORPHA:3380
Microcephaly With Cervical Spine Fusion Anomalies
Microcephaly, Vertebral fusion, Spinal cord compression, Spinal instability OMIM:251250
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypotelorism, Deeply set eye ORPHA:276422
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Broad foot, Neonatal death, Sho... OMIM:269860
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypotelorism, Ventricular septal defect OMIM:618974
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Abn... ORPHA:1120
Holoprosencephaly 1
Alobar holoprosencephaly, Proboscis, Hypotelorism, Ethmocephaly, Cyclopia, Aplasia of the nose OMIM:236100
Distal Symphalangism
Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C... ORPHA:3248
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Hypotelorism, Overriding aorta, Microphthalmia, Cyclopia... ORPHA:3186
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Cyclopi... ORPHA:261236
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Proptosis, Chorioretinal coloboma, Probosc... OMIM:157170
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Abnormal hand morpho... ORPHA:93307
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Monosomy 18P
Kyphoscoliosis, Microcephaly, Short neck, Brachydactyly, Holoprosencephaly ORPHA:1598
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Hypotelorism, Hypertelorism, Short nose OMIM:613544
Cerebrocostomandibular Syndrome
Hydranencephaly, Tracheomalacia, Myelomeningocele, Cerebral calcification, Microcephaly, Spina bi... ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Scoliosis, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Enc... OMIM:253800
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Arachnodactyly, Short neck, Short foot, Knee flexion contracture, Diffuse cerebral a... OMIM:613776
Juvenile Huntington Disease
Broad-based gait, Depression, Neuronal loss in basal ganglia, Ventriculomegaly, Gait ataxia, Irri... ORPHA:248111
Limb Body Wall Complex
Progressive congenital scoliosis, Broad hallux, Abnormality of the vertebral column, Myelomeningo... ORPHA:2369
Richieri-Costa/Guion-Almeida Syndrome
Hypotelorism, Deeply set eye, Brachycephaly, Spina bifida occulta, Iris coloboma OMIM:268850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Waardenburg Syndrome Type 3
Spastic paraplegia, Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneou... ORPHA:896
49,Xxxxy Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Hypoplasia of the corpus callosum, Down-sloping... ORPHA:96264
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Heterotaxy, Chronic bronchitis, Recurre... OMIM:613807
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Cry... OMIM:618316
Semilobar Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:220386
Alobar Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:93926
Lobar Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:93924
Holoprosencephaly 7
Hypoplastic nasal septum, Alobar holoprosencephaly, Hypertelorism, Bifid nose, Absent nasal septa... OMIM:610828
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Aplastic clavicle, Micromelia, Hypoplasia of the brainstem, Polymic... OMIM:616546
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Hypertelorism OMIM:245552
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Depression, Lateral ventricle dilatation, Periventricular leukomalacia, Atax... OMIM:615889
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Glycine Encephalopathy 1
Agenesis of corpus callosum, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restless... OMIM:605899
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic iliac wing, Long hallux, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Short neck, Spina bifida,... OMIM:616038
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin... OMIM:613686
Trisomy 13
High, narrow palate, Abnormal lung lobation, Cryptorchidism, Hypotelorism, Deeply set eye, Ventri... ORPHA:3378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Paraplegia, Genu valgum, Talipes equinova... OMIM:271640
Stormorken Syndrome
Howell-Jolly bodies, Stroke-like episode, Hypotelorism, Deeply set eye, Subarachnoid hemorrhage, ... OMIM:185070
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Muenke Syndrome
Coronal craniosynostosis, Capitate-hamate fusion, Broad thumb, Clinodactyly, Short middle phalanx... OMIM:602849
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Hype... OMIM:613402
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis ORPHA:2010
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Talipes equinovarus, Hydrocephalus, Postaxia... OMIM:612284
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w... OMIM:620317
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Reduced cerebral white matter volume, Hippocampal atrophy, Aggress... OMIM:301107
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle phalanx of finger, Joint st... ORPHA:1005
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Oligodactyly, Abnormality of the wris... ORPHA:1307
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Vertebral segmentation defect, Cerebellar hypoplasia, Microcephaly, Talipes equinovar... OMIM:612530
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Proboscis Lateralis
Choanal atresia, Proptosis, Chorioretinal coloboma, Optic disc coloboma, Proboscis, Hypertelorism... ORPHA:141099
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Platyspondyly, Flared metaphysis, Carpal syno... OMIM:615349
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Trigonocephaly, Hypotelorism ORPHA:3366
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,... OMIM:161200
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Cryptorchidism, Hypertelorism, Microphthalmia, Anal atre... OMIM:249000
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Deeply set eye ORPHA:3204
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Patent ductus arteriosus, Dextrocardia, High palate, Anal atresia, Anterior hypop... ORPHA:2863
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Neutropenia, Hypertelorism, Anem... OMIM:618067
Sweeney-Cox Syndrome
Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Median cleft pal... OMIM:617746
Endocrine-Cerebroosteodysplasia
Sandal gap, Focal polymicrogyria, Preaxial polydactyly, Micromelia, Fibular bowing, Absent septum... OMIM:612651
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal calvaria morphology, Patent ductus arteriosus, Hypotelorism ORPHA:1952
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle, At... OMIM:179613
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, 2-3 toe syndactyly, Microcephaly, Radioulnar synostosis, Vertebr... OMIM:614701
Arachnoid Cyst
Sciatica, Cranial nerve compression, Tetraparesis, Spinal arachnoid cyst, Lower limb pain, Enceph... ORPHA:2356
Halperin-Birk Syndrome
Optic atrophy, Spastic tetraplegia, Semilobar holoprosencephaly, Umbilical hernia, Pseudobulbar p... OMIM:618651
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Trigonocephaly With Short Stature And Developmental Delay
High palate, Hypotelorism, Ventricular septal defect OMIM:314320
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Calcification of... OMIM:109400
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Plagiocephaly, Anteverted nares, Prominent occiput, Hypotelorism, Deeply s... OMIM:618672
Frontoocular Syndrome
Proptosis, Hypotelorism, Atrial septal defect, High palate, Pulmonic stenosis OMIM:605321
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent... OMIM:185700
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Hypotelorism, Ventricular septal defect ORPHA:3369
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Spasticity, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... ORPHA:468631
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Abnormal vertebral morphology, Micr... OMIM:600383
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Hydrocephalus, Microphthalmia, Asplenia, Hypoplastic spleen OMIM:602361
Adams-Oliver Syndrome 4
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ... OMIM:615297
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... OMIM:256520
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Ta... OMIM:620371
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Abnormal anterior horn cell morphology, Cerebral atrophy, Facial diple... OMIM:611890
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Dominant 74
Prominent nose, Hypotelorism, Deeply set eye, Brachycephaly, Hypertelorism OMIM:620688
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overriding aorta, Double... ORPHA:3304
Trisomy 1Q
Cryptorchidism, Hypotelorism, Ventricular septal defect, Anophthalmia, Hydrocephalus, Hypertelori... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Hydromyelia, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissenceph... OMIM:615287
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Lateral ventricle dilatation, Overlapping fingers, Hypoplasia of the corpus callo... OMIM:618291
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jej... OMIM:164280
Trisomy 20P
Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger,... ORPHA:261318
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Holoprosencephaly,... OMIM:202650
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, P... OMIM:613759
Stxbp1-Related Encephalopathy
Inability to walk, Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity, Ataxia ORPHA:599373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis... ORPHA:508498
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis, Areflexia of lower limbs, Hyporeflexia of lower lim... OMIM:608634
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Abnormal heart morphology, Decreased testicular size, Cryptorchidis... OMIM:300978
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Wildervanck Syndrome
Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Verheij Syndrome
Short 5th finger, Clinodactyly, Cerebral atrophy, Branchial cyst, Joint hypermobility, Microcepha... OMIM:615583
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Tetralogy of Fallot, Cryptorchidism, Hydrocephalus, Hypertelorism ORPHA:250994
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Pericardial effusion, Cleft... OMIM:613885
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Developmental And Epileptic Encephalopathy 87
Bulbous nose, Prominent nose, Hypotelorism, Hypertelorism OMIM:618916
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Cerebral cortical atrophy, Periventricular white matter hyperintensities, Attention deficit hyper... OMIM:301008
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Decreased calvarial ossification, Bowing of ... OMIM:619879
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ta... ORPHA:221120
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis, Areflexia of lower limbs, Hyporeflexia of lower lim... OMIM:158590
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... OMIM:218600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... OMIM:150250
Neu-Laxova Syndrome
Osteomalacia, Cerebral calcification, Broad foot, Opisthotonus, Large hands, Osteopenia, Rickets,... ORPHA:2671
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Brachydactyly, Hyperlordo... ORPHA:710
Cutis Laxa, Autosomal Recessive, Type Iib
Bulbous nose, Hypotelorism, Deeply set eye, Narrow nasal ridge, Hydrocephalus, Hypertelorism, Fro... OMIM:612940
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Cerebral subcortical cyst, Gait ataxia, Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis ORPHA:35099
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Hypotelorism, Deeply set eye, Hypertelorism, F... OMIM:613604
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Giacheti Syndrome
Hypotelorism OMIM:612917
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Vascular ... OMIM:603387
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchi... OMIM:249270
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Pachygyria, Aggressive behavi... OMIM:619827
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of ... ORPHA:268882
Sirenomelia
Absence of the sacrum, Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Neonatal death, Talipes, Talipe... OMIM:108720
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Radial he... OMIM:146510
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Bilateral single transverse palmar creases, Short neck, Scoliosis, Ky... ORPHA:3191
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Cardiospondylocarpofacial Syndrome
Abnormal form of the vertebral bodies, Synostosis of carpal bones, Brachydactyly, Short palm ORPHA:3238
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Deeply set eye, Coarctation ... OMIM:618929
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphade... OMIM:614034
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hypotelorism, Microphthalmia, Hepatomegaly, High palate OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Shoulder girdle muscle weakness, Elbow contracture, Microcephaly, Abnormal cerebral wh... OMIM:606612
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... ORPHA:980
Aprosencephaly Syndrome
Finger aplasia, Aprosencephaly, Anencephaly OMIM:207770
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Aicardi Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Block vertebrae, Lateral ventricle dilatation, Optic... OMIM:304050
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Encephalocele, Agenesis of corpus callosum, Limited elbo... OMIM:134780
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Central Neurocytoma
Depression, Cerebral calcification, Abnormal lateral ventricle morphology, Lethargy, Hydrocephalu... ORPHA:73256
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Spinal dysraphism, Absence of the sacrum, Butterfly vertebrae, Tal... OMIM:617660
Trigonocephaly 1
Wide nasal bridge, Trigonocephaly, Hypotelorism, Craniosynostosis, Short nose OMIM:190440
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcephaly, Short ... OMIM:617854
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Scoliosis, Tethered cord OMIM:612918
Intellectual Developmental Disorder, Autosomal Recessive 5
Wide nasal bridge, Underdeveloped nasal alae, Prominent nose, Prominent nasal bridge, Hypoteloris... OMIM:611091
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Semilobar holoprosencephaly, Prominent occiput, Hypotelorism, ... ORPHA:556955
Microphthalmia/Coloboma 10
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Isolated Exencephaly
Depressed nasal bridge, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Proptosis, ... ORPHA:563612
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Memory impairment, Lateral ventricle dilatation, Neurofibrillary tangl... OMIM:607485
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Glossoptosis, Cleft palate ORPHA:1388
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Aplasia/Hypoplasia of the thu... OMIM:184705
Jacobsen Syndrome
Annular pancreas, Chorioretinal coloboma, Microphthalmia, Cryptorchidism, Ventricular septal defe... OMIM:147791
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Abnormal lung lobation, Intestinal malrotation, Abnormalit... ORPHA:2538
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Single... ORPHA:915
Multiple Synostoses Syndrome 4
Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis OMIM:617898
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec... OMIM:614294
Li-Campeau Syndrome
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, At... OMIM:619189
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Coloboma... OMIM:618652
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Truncus arteriosus, Ventricula... ORPHA:401935
Cranioectodermal Dysplasia
Anteverted nares, Prominent occiput, Hypotelorism, Dolichocephaly, Craniosynostosis, Frontal bossing ORPHA:1515
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Syringomyelia, Persis... ORPHA:477817
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Agenesis of corpus callosum, Microcephaly, Aplasi... ORPHA:96176
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Wide nasal bridge, Depressed nasal ridge, Proptosis, Encephalocele, Exencephaly, Brachycephaly, H... ORPHA:2211
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Decreased response to growth hormone stimulation test, Hypotelorism, Deep... OMIM:614114
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Hypoplasia of the ra... ORPHA:3412
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Hypotelorism, Hypertelorism OMIM:613192
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:290
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Plagiocephaly, Anteverted nares, Hypotelorism, Hydrocephalus, Hypertelori... OMIM:617822
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Absent... OMIM:236680
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Small basal ganglia, Facial diplegia, Hypoplasia of the corpus callosum, Knee f... OMIM:616286
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Proptosis, Bulbous nose, Hypotelorism, Turricephaly, Brachycephaly, Hypertelor... OMIM:613174
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Pes cavus, Claw han... OMIM:605285
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Hypotelorism, Narrow nasal ridge, Brachycephaly, Hypertelorism, Frontal bossing OMIM:219150
2Q23.1 Microduplication Syndrome
Bulbous nose, Prominent nasal tip, Prominent nose, Hypotelorism ORPHA:313947
Cat Eye Syndrome
Chorioretinal coloboma, Ventricular septal defect, Atrial septal defect, Rectal atresia, Hypertel... OMIM:115470
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Hypotelorism, Ventricular... ORPHA:2209
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Gait ataxia, Aggressive ... ORPHA:98818
Lethal Congenital Contracture Syndrome 8
Pes cavus, Facial diplegia, Neonatal death, Distal arthrogryposis, Vocal cord paralysis, Flexion ... OMIM:616287
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Pancytopenia, Microphth... OMIM:227646
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Lateral Meningocele Syndrome
Dural ectasia, Kyphosis, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, J... OMIM:130720
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Long nasal bridge, Hypotelorism, Deeply set eye OMIM:162100
Menkes Disease
Spasticity, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Chorea, Joint hypermobility, Bowi... ORPHA:565
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi... OMIM:612561
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Proptosis, Myelomeningocele, Anteverted nares, Hydroceph... ORPHA:1914
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Alg3-Cdg
Osteopenia, Arthrogryposis multiplex congenita, Hypoplasia of the pons, Hypoplasia of the corpus ... ORPHA:79321
Cloacal Exstrophy
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Inability to walk, Ataxia OMIM:618276
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:253300
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Broad nasal tip, Hypotelorism OMIM:619719
Kbg Syndrome
Delayed skeletal maturation, Persistent open anterior fontanelle, Finger clinodactyly, Single tra... ORPHA:2332
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Periventricular white matter hyperintensities, Aggressive behavior, Microcephal... OMIM:619470
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Deeply set eye, Hypertelorism, Pulmonic stenosis ORPHA:251076
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morphology, Syringomyel... ORPHA:261197
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypo... ORPHA:163966
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis, Cryptorchidism ORPHA:3303
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def... ORPHA:101028
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu... OMIM:601927
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... OMIM:185900
Monosomy 13Q14
Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the thu... ORPHA:1587
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Brachycephaly, Hypotelorism ORPHA:1387
Marden-Walker Syndrome
High, narrow palate, Pulmonary hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocard... OMIM:248700
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Narrow nasal bridge, Hypotelorism, Flat occiput ORPHA:2511
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, ... OMIM:214800
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakn... ORPHA:99948
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Distal Deletion 10Q
Wide nasal bridge, Proptosis, Prominent nose, Prominent nasal bridge, Hypotelorism, Brachycephaly... ORPHA:96148
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Cerebral atrophy, Ataxia OMIM:615924
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Tetrasomy 15Q26
Hypoplastic aortic arch, Syringomyelia, Hydrocephalus, Atrial septal defect, Hypertelorism, High ... OMIM:614846
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Weyers Acrofacial Dysostosis
Hypotelorism OMIM:193530
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Hypotelorism OMIM:618718
Phakomatosis Pigmentokeratotica
Hemiatrophy, Hypophosphatemic rickets, Hemiparesis, Spina bifida, Scoliosis ORPHA:2874
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... ORPHA:99125
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Leukopenia, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle,... OMIM:301056
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Deeply set eye, Hypertelorism, High palate, Patent ductus arteriosus ORPHA:261120
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Patent ductus... OMIM:614886
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomeg... OMIM:620210
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Deeply set ey... OMIM:619534
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Lethargy, Hyperactivity OMIM:274270
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Spasticity, Semilobar holoprosencephaly, Absent septum pellucidum, Hypoplasia of the corpus callo... OMIM:618500
Waardenburg Syndrome, Type 1
Wide nasal bridge, Underdeveloped nasal alae, Myelomeningocele, Spina bifida, Hypertelorism OMIM:193500
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen, Hypertelorism, Dysphagia ORPHA:89844
Matthew-Wood Syndrome
Annular pancreas, Duodenal stenosis, Cryptorchidism, Anophthalmia, Abnormal spleen morphology, Mi... ORPHA:2470
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo... ORPHA:321
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect, Microphthalmia, Hypertelorism OMIM:300887
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorte... OMIM:300863
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Hydromyelia, Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain... OMIM:600145
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Bi... ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iu
Hypotelorism, Short nose OMIM:615042
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Hypotelorism, Deeply set eye, Flat occiput OMIM:603585
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice OMIM:613095
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Hypotelorism OMIM:620156
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Wide nasal bridge, Depressed nasal bridge, Hypotelorism OMIM:615760
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Joint stiffness, Absent septum pellucidum, Agenesis of co... OMIM:618820
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Slender long bone, Optic disc coloboma, Tracheo... OMIM:234100
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Fanconi Anemia
Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Atrial septal defect... ORPHA:84
Floating-Harbor Syndrome
Umbilical hernia, Cryptorchidism, Mesocardia, Deeply set eye, Persistent left superior vena cava,... OMIM:136140
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Orofaciodigital Syndrome Type 1
Ataxia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand p... ORPHA:2750
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Frontal bossing, Bulbous nose, Hypotelorism, Dolichocep... OMIM:613884
Blepharocheilodontic Syndrome 1
Choanal atresia, Neural tube defect, Hypertelorism OMIM:119580
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Microcephaly... OMIM:309548
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia, Lymphangioma, Patent ductus arteriosus, Pyl... ORPHA:1571
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypertelorism, Hypoparathyroidis... ORPHA:567
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Abnormal heart morphology, ... OMIM:618494
Fadd-Related Immunodeficiency
Hepatic fibrosis, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Talipes equinovarus, Paralysis OMIM:613710
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy, Brad... ORPHA:306669
Familial Congenital Mirror Movements
Cerebral palsy, Agenesis of corpus callosum, Clumsiness, Poor fine motor coordination, Fused cerv... ORPHA:238722
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Anemia, Tracheoesophageal fistula, Megaloblastic anemia, Atrial septal defect, Neut... OMIM:277380
Renpenning Syndrome
High, narrow palate, Decreased testicular size, Heterotaxy, Anal atresia, Iris coloboma, Cleft pa... ORPHA:3242
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gastroesophageal reflux, Mitral valve prolapse, Hypotelorism, Atrial septal defect, Hypertelorism... OMIM:300986
Rasmussen Subacute Encephalitis
Ventriculomegaly, Memory impairment, Focal cortical dysplasia, Inability to walk, Abnormal basal ... ORPHA:1929
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Hypotelorism, Turricephaly, Brachyce... OMIM:604757
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Talipes... ORPHA:818
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Hypoplasia of the pons, Lateral ventricle dilatation, Bicoronal syno... OMIM:618736
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Gastr... ORPHA:2306
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypotelori... OMIM:615465
Glut1 Deficiency Syndrome 1
Spasticity, Secondary microcephaly, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Cho... OMIM:606777
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft palate OMIM:600776
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Glossoptosis, Ventricular septal defect OMIM:614876
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Progressive microcephaly, Hyperto... ORPHA:71277
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Hypertelorism ORPHA:83473
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, 2-3 toe syndactyly, Vertebral fusion, T... ORPHA:313892
Jacobsen Syndrome
Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Annular pancreas, Int... ORPHA:2308
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Plantar pits, Vertebral wedging, Cerebral calcificati... ORPHA:377
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Arachnodactyly, H... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Arachnodactyly, H... ORPHA:363958
Glutathionuria
Hypotelorism OMIM:231950
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... OMIM:614954
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Koolen-De Vries Syndrome
Aortic root aneurysm, Cryptorchidism, Hypotelorism, Ventricular septal defect, Bicuspid aortic va... OMIM:610443
Phenylketonuria
Depression, Cerebral calcification, Self-mutilation, Irritability, Aggressive behavior, Attention... OMIM:261600
Mucolipidosis Iv
Progressive neurologic deterioration, Microcephaly, Dysplastic corpus callosum, Cerebral dysmyeli... OMIM:252650
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Optic disc coloboma, Polymic... OMIM:615948
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis, Hand muscle atrophy, Hand muscle we... OMIM:607641
Intellectual Developmental Disorder, Autosomal Dominant 7
Bulbous nose, Hypotelorism, Deeply set eye OMIM:614104
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology, Hypertelorism ORPHA:1919
Distal Duplication 5Q
Chorioretinal coloboma, Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gall... ORPHA:96097
Floating-Harbor Syndrome
Gastroesophageal reflux, Tetralogy of Fallot, Cryptorchidism, Mesocardia, Deeply set eye, Persist... ORPHA:2044
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Short ne... ORPHA:457395
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Coarctation of aorta, Atrial septal defect, Hypertelorism, Patent ductus arterios... OMIM:615502
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Unilateral facial palsy, Torticollis, Partial agenesis of the corpus callosum, Thin... OMIM:619480
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Galloway-Mowat Syndrome
Aqueductal stenosis, Hypotelorism, Hypertelorism ORPHA:2065
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypotelorism OMIM:616281
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypotension, Prominent nose, Hypotelorism, Thickened calvaria, Prominent ... ORPHA:439822
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Cryptorchidism, Hypotelorism, Deeply ... OMIM:616975
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial in... OMIM:183900
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Joubert Syndrome With Ocular Defect
Retinal coloboma, Encephalocele, Aganglionic megacolon, Hydrocephalus, Dextrocardia, Iris colobom... ORPHA:220493
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Microcephaly, Apraxia, Contracture of the proximal interphalangeal joint of the... OMIM:620141
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Talipes, Holoprosencephaly, Preaxial hand poly... OMIM:107480
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Tetralogy of Fallot, Abnormal heart morphology, Cryptorchidism, Aplasia/Hypo... ORPHA:96092
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele, Cleft palate ORPHA:217
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Short thumb, Interphalangeal joint co... OMIM:151200
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B... OMIM:224400
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Cerebral cortical atrophy, Memory impairment, Hypothalamic atrophy, Lateral... ORPHA:2822
Intellectual Developmental Disorder, X-Linked 112
Gastroesophageal reflux, Volvulus, Abnormal heart morphology, Right aortic arch, Cryptorchidism, ... OMIM:301111
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Secondary microcephaly, Abnormal caudate nucleus morphology, Hypopl... ORPHA:2148
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Short Stature-Micrognathia Syndrome
Gastroesophageal reflux, Cryptorchidism, Hypotelorism, Ventricular septal defect, High palate, Cl... OMIM:617164
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Prominent superficial veins, Hypotelorism OMIM:616817
10Q22.3Q23.3 Microdeletion Syndrome
Breast aplasia, Atrioventricular canal defect, Intestinal polyposis, Hypotelorism, Tricuspid valv... ORPHA:276413
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Cessation of head growth, Inappropriate laughter, Short attention span, Polypha... ORPHA:411515
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Stomach cancer, Intestinal polyposis, Abnormal aortic morphology, Acute l... ORPHA:1052
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... OMIM:615996
Neurofibromatosis, Type I
Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Macrocephaly, Aqueductal stenosi... OMIM:162200
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Decreased CD4:CD8 ratio, Hypotelorism, Acute myeloid leukemia, Leukemia OMIM:614038
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Microphthalmia, Leukemia, Hypertelorism OMIM:602501
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent pneumonia, Persi... OMIM:619769
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Hypoplasia of the corpus callosum, Gait disturbance, H... OMIM:618090
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid aortic valve, Coar... ORPHA:371428
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Basal ganglia calcific... OMIM:135100
Microtia-Anotia
Holoprosencephaly OMIM:600674
3C Syndrome
High, narrow palate, Aortic valve stenosis, Hypoplastic left heart, Gastroesophageal reflux, Chor... ORPHA:7
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver... OMIM:615382
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Delayed skeletal maturation, Absent septum pellucidum, Decreased cervical spine mobil... ORPHA:95494
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Lamb-Shaffer Syndrome
Ataxia, Optic atrophy, Thoracic kyphosis, Microcephaly, Decreased head circumference, Hip dysplas... ORPHA:530983
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Dextrocardia, Abnormal cardiac septum ... ORPHA:2315
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Bulbous nose, Anteverted nares, Hypotelorism, Deeply set eye, Absent nas... ORPHA:261211
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasia of the corpus call... ORPHA:488635
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Hypotelorism, Neutropenia, Microphtha... OMIM:616395
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Hypoplasia of the corpus cal... OMIM:270400
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... OMIM:251450
Ritscher-Schinzel Syndrome 4
Wide nasal bridge, Plagiocephaly, Proptosis, Hypotelorism, Deeply set eye, Brachycephaly, Hyperte... OMIM:619435
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan... ORPHA:1436
Vici Syndrome
Cardiomyopathy, Hypotelorism, High palate, Recurrent respiratory infections, Hypertelorism ORPHA:1493
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Cryptorchidism, Atrioventricular canal defect DECIPHER:39
Developmental Delay With Or Without Dysmorphic Facies And Autism
Optic disc coloboma, Umbilical hernia, Supernumerary nipple, Cryptorchidism, Hypotelorism, Deeply... OMIM:618454
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Non-Distal Duplication 13Q
Trigonocephaly, Hypotelorism, Short nose ORPHA:1702
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Preaxial polydactyly, Radiou... OMIM:192350
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Secundum atrial septal defect, Deeply set eye, Ventricular septal defect... OMIM:600987
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Ventricular septal defect, Syringomyelia, Bicuspid aortic valve, Double out... OMIM:616652
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Agenesis of... OMIM:151050
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Short neck, Hydrocephalus, Po... OMIM:610829
Diamond-Blackfan Anemia 16
Anemia, Atrial septal defect, Pulmonic stenosis OMIM:617408
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Poland Syndrome
Dextrocardia OMIM:173800
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Trichothiodystrophy 8, Nonphotosensitive
Prominent nose, Hypotelorism OMIM:619691
Poland Syndrome
Small hand, Finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb, Short neck, Abnorm... ORPHA:2911
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Semilobar holoprosencephaly, Clinodactyly, Broad hallux, Contracture of the proximal ... OMIM:301044
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hern... ORPHA:2311
Autosomal Recessive Spastic Paraplegia Type 66
Difficulty walking, Colpocephaly, Spastic gait, Hypoplasia of the corpus callosum ORPHA:401815
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... OMIM:618223
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Microcephaly, Short neck, Spinal cord compression, Hyperlordosis, K... ORPHA:2522
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Digeorge Syndrome
Hepatic steatosis, Ovarian cyst, Ventricular septal defect, Hypertelorism, High palate, Patent du... OMIM:188400
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ... OMIM:606003
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Fryns Syndrome
Abnormal aortic arch morphology, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fa... ORPHA:2059
Cach Syndrome
Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Dysgyria, Dysmetria, Irritability, M... ORPHA:135
Lissencephaly Due To Tuba1A Mutation
Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ventricle, Hypo... ORPHA:171680
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Recurrent respiratory infections, Hypotelorism, Atrial septal defect, Unilateral bre... OMIM:300968
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Fused cervical ver... OMIM:607323
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Fliedner-Zweier Syndrome
Kyphosis, Hypoplasia of the corpus callosum, Joint hypermobility, Microcephaly, Hallux valgus, Pe... OMIM:620511
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Arthrogryposis, Distal, Type 1A
Hand clenching, Congenital hip dislocation, Joint contracture of the hand, Arthrogryposis multipl... OMIM:108120
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Microtia
Holoprosencephaly ORPHA:83463
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone st... OMIM:618624
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism, Umbilical hernia ORPHA:1918
Spondylocostal Dysostosis 5
Butterfly vertebrae, Syringomyelia, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, S... OMIM:122600
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Recurrent respiratory infections, Lymphopenia, Leukopenia... OMIM:242840
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic active hepatitis, Hypoparathyroidism, Asplenia OMIM:240300
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Gen... OMIM:225500
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Mitral valve prolapse, Deeply set eye, Ventricular septal defect, Atrial septal d... OMIM:180849
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Neuronal loss in basal ganglia, Lateral ventricle dilatation, Limb ata... OMIM:607596
Isolated Posterior Meningocele
Hydromyelia, Thoracic hemivertebrae, Absent Achilles reflex, Paraplegia, Hydrocephalus, Lipomyelo... ORPHA:268810
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Ventriculomegaly, Depression, Periventricular... ORPHA:485350
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Abnormal aortic morphol... ORPHA:1166
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Pitt-Hopkins-Like Syndrome 1
Focal cortical dysplasia, Reduced social reciprocity, Aggressive behavior, Attention deficit hype... OMIM:610042
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Spasticity, Lateral ventricle dilatation, Clinodactyl... OMIM:277590
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Syringomyelia, Hydrocephalus, Atrial septal d... ORPHA:314588
Degcags Syndrome
Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Protruding tongue, Cryp... OMIM:619488
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Ring Chromosome 7 Syndrome
Short 5th finger, Cerebral cortical atrophy, Small hand, Slender finger, 3-4 toe syndactyly, Genu... ORPHA:1449
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Hemiverteb... OMIM:212780
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Iron deficiency anemia, Double outle... ORPHA:1667
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Ventriculomegaly, Cerebral atrophy, Inability to walk, Gait ataxia, Hypoplasia of the corpus call... ORPHA:500180
Prune Belly Syndrome
Volvulus, Recurrent respiratory infections, Intestinal malrotation, Tetralogy of Fallot, Decrease... ORPHA:2970
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocolitis OMIM:142623
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Deeply set eye, Hepatomegaly ORPHA:2849
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Cryp... ORPHA:163956
Ellis Van Creveld Syndrome
Acute leukemia, Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs ... ORPHA:289
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Narrow nasal bridge, Frontal bossing, Hypotelorism ORPHA:3082
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morphol... OMIM:118100
Lessel-Kreienkamp Syndrome
Gastroesophageal reflux, Patent foramen ovale, Deeply set eye, Bicuspid aortic valve, Atrial sept... OMIM:619149
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defec... OMIM:616589
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Dysphagia, Patent... OMIM:616276
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Anteverted nares, Hypotelorism, Wide nose ORPHA:391408
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Hypertelorism ORPHA:3033
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Hypotelorism, Ventricular septal defect, Gastrointestinal... OMIM:617798
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Postaxial hand polydactyly, Hypoplastic... ORPHA:2916
Diets-Jongmans Syndrome
Umbilical hernia, Cryptorchidism, Heterotaxy, Ventricular septal defect, Interrupted inferior ven... OMIM:618846
Trisomy 18P
Wide nasal bridge, Underdeveloped nasal alae, Hypotelorism ORPHA:1715
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Tetralogy of Fallot, Median cleft palate,... OMIM:136760
Subependymal Nodular Heterotopia
Focal cortical dysplasia, Occipital encephalocele, Limb myoclonus, Polymicrogyria, Myelomeningoce... ORPHA:101030
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Involuntary movements, Lateral ventricle dilatation, Cerebra... ORPHA:565624
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Down Syndrome
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Protruding tongue, Acute m... OMIM:190685
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Splenomegaly, Ventricular septal ... OMIM:614576
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Abnormal tricuspid valve morphology, Abnormality ... ORPHA:90308
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... OMIM:615222
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Neutropenia,... OMIM:614857
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Autism Spectrum Disorder Due To Auts2 Deficiency
Proptosis, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Hyp... ORPHA:352490
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Optic atrophy, Spasticity, Hip subluxation, Hypoplasia of the pons, Hy... ORPHA:500144
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno... OMIM:613443
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Congenital Hydrocephalus
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... ORPHA:2185
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Ventricular septal defect, Left ve... OMIM:615355
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra... OMIM:619472
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Aganglionic megacolon, Abnormal metacarpal morphol... ORPHA:2473
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Stroke, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia ORPHA:49827
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han... OMIM:276950
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Chorioretinal coloboma, Abnormal heart morphology, Deeply set eye, Ventr... ORPHA:284169
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Cerebral hypoplasia, Thick cerebral cortex, Lateral ventricle dilatation ORPHA:101071
Apert Syndrome
Optic atrophy, Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Cervical C5/C6 vertebr... ORPHA:87
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Abnormality of globe location, Portal hyperten... ORPHA:440713
Nemaline Myopathy 9
High palate, Cleft palate, Ventricular septal defect OMIM:615731
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Absent septum pellucidum, Agenesis of corpus cal... OMIM:609053
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Depressed nasal bridge, Bulbous nose, Hypotelorism OMIM:618622
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Hypertelorism OMIM:618499
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... OMIM:271700
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Decreased motor nerve conduction velocity, Vocal cord paralysis, Pes cavus ORPHA:640
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, High palate, Hypoplastic right he... OMIM:618142
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, Bulbous nose, Hypotelorism, Narrow nasal ridge, Brachycephaly, Hydrocephalus, Hype... OMIM:619512
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossic... OMIM:157800
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Gastroesophageal reflux, Umbilical hernia, Cryptorchidism, Patent foramen ovale, Ventricular sept... ORPHA:329224
Emanuel Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Recurrent respiratory infections, Intestinal malr... OMIM:609029
Oculodentodigital Dysplasia
Abnormality of the nose, Underdeveloped nasal alae, Umbilical hernia, Broad columella, Cranial hy... ORPHA:2710
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Proptosis, Recurrent respiratory infections, Decreased response to growth hormone st... ORPHA:177907
Duane Retraction Syndrome
Blepharospasm, Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Microcephaly, Ta... ORPHA:233
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hydrocephalus, Microphthalmia, Asplenia, Anal atresia, Peripheral pulmona... OMIM:273395
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Tethered cord, Umbilical hernia, Mitral atresia, V... OMIM:618164
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Ventricular septal defect, Atrial septal de... OMIM:600001
Wolf-Hirschhorn Syndrome
Agenesis of corpus callosum, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hip disloc... OMIM:194190
Microphthalmia, Syndromic 2
Aortic valve stenosis, Bifid uvula, Umbilical hernia, Cryptorchidism, Submucous cleft hard palate... OMIM:300166
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Proteus Syndrome
Lymphangioma, Splenomegaly, Venous malformation, Spinal cord compression OMIM:176920
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Seckel Syndrome 7
Prominent nose, Hypotelorism OMIM:614851
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Coloboma, Esophagea... OMIM:206900
Charge Syndrome
Optic atrophy, Bifid femur, Umbilical hernia, Abnormal tibia morphology, Abnormal cranial nerve m... ORPHA:138
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Stillbirth, Umbilical hernia, Macrocephaly, Advanced tarsal ... OMIM:269250
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Spasticity of facial muscles, Opi... OMIM:205100
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Feingold Syndrome 2
Intestinal atresia, Ventricular septal defect OMIM:614326
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia, Hypotelorism OMIM:244200
Braddock Syndrome
Pulmonary arterial hypertension, Hypotelorism ORPHA:52047
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Hy... ORPHA:363705
Thanatophoric Dysplasia
Proptosis, Hydrocephalus, Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Cranial nerve compression, Pa... ORPHA:52430
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Delayed skeletal maturation, Delayed cranial suture ... ORPHA:85199
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Myelomeningocele, Short clavicles, Encephalomalacia, Cranio... ORPHA:60015
17Q12 Microduplication Syndrome
Deeply set eye, Tracheoesophageal fistula, Atrial septal defect, Microphthalmia, Cleft palate ORPHA:261272
Catel-Manzke Syndrome
Bifid uvula, Proptosis, Umbilical hernia, Cryptorchidism, Ventricular septal defect, Overriding a... OMIM:616145
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic... OMIM:169550
Lig4 Syndrome
Wide nasal bridge, Prominent nose, Hypotelorism, Telangiectasia, Brachycephaly OMIM:606593
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Umbilical hernia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 v... OMIM:618000
Christian Syndrome
Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused... OMIM:309620
Neurooculorenal Syndrome
Ectopic posterior pituitary, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot ... OMIM:620305
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Intestinal... OMIM:243150
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hypotelorism, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology... OMIM:617050
Baller-Gerold Syndrome
Proptosis, Anteriorly placed anus, Hypotelorism, Anal atresia, Abnormal cardiac septum morphology... ORPHA:1225
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Periventricular leukomalacia, Low frustration tol... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Aggressive behavior, Microcephaly, Hyperactivity, Hydrocephalus, Restlessne... OMIM:300558
Thrombocytopenia 6
Deeply set eye, Hypotelorism, Spontaneous, recurrent epistaxis OMIM:616937
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Optic atrophy, Spasticity, Lateral ventricle dilatation, Contractures... ORPHA:3078
Trichothiodystrophy
High, narrow palate, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Umbilic... ORPHA:33364
X-Linked Intellectual Disability, Hedera Type
Hyporeflexia of upper limbs, Frequent falls, Extrapyramidal muscular rigidity, Absent Achilles re... ORPHA:93952
Hydranencephaly
Atrophic pituitary gland, Dilatation of the ventricular cavity, Abnormal internal carotid artery ... ORPHA:2177
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Schuurs-Hoeijmakers Syndrome
Volvulus, Cryptorchidism, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum mo... OMIM:615009
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Marbach-Schaaf Neurodevelopmental Syndrome
Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Hypotelorism OMIM:619680
Chromosome 15Q11.2 Deletion Syndrome
Abnormal heart morphology, Hypotelorism, Cleft palate, Hypertelorism OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Prominent nose, Hypotelorism, Deeply set eye, Long nose, Frontal bossing OMIM:300486
Lambert Syndrome
Cholestasis, Branchial anomaly, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice ORPHA:1296
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Tetrasomy 9P
Bifid uvula, Pulmonary hypoplasia, Umbilical hernia, Juxtaductal coarctation of the aorta, Median... ORPHA:3310
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Occipital Horn Syndrome
Platyspondyly, Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Short h... OMIM:304150
Joubert Syndrome 14
Encephalocele, Deeply set eye, Ventricular septal defect, Coloboma, Hydrocephalus, Meningocele, M... OMIM:614424
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga... ORPHA:488627
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis OMIM:614262
Frank-Ter Haar Syndrome
Abnormally large globe, Proptosis, Secundum atrial septal defect, Mitral valve prolapse, Ventricu... OMIM:249420
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... ORPHA:261183
White Forelock With Malformations
Spina bifida occulta, Atrial septal defect, Hypertelorism ORPHA:2475
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, I... ORPHA:2255
Atelis Syndrome 1
Leukopenia, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Anemia, High palat... OMIM:620184
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Hydrocephalus, Atrial septal defect, Hypertelorism, High palate, Patent ductus ... OMIM:618162
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Microcephaly, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Sho... ORPHA:96334
Histiocytosis-Lymphadenopathy Plus Syndrome
Proptosis, Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical... OMIM:602782
Fanconi Anemia, Complementation Group B
Aplastic anemia, Optic disc hypoplasia, Duodenal atresia, Abnormal lung lobation, Ventricular sep... OMIM:300514
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Dysplastic patella, Patellar aplasia, Arachnodacty... OMIM:265000
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly, Agenesis of corpus callosum, Aggressive behavior, Microcephaly, Hyperactivity OMIM:615286
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Chromosome 15Q14 Deletion Syndrome
Recurrent viral upper respiratory tract infections, Atrial septal defect, Cleft palate, Ventricul... OMIM:616898
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate, Hypertelorism ORPHA:94066
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Marden-Walker Syndrome
Bifid uvula, Situs inversus totalis, Submucous cleft hard palate, Ventricular septal defect, Abno... ORPHA:2461
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Absenc... ORPHA:1600
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Secondary microcephaly, Short attention span, Hypoplasia of the corpus callosum, Aggr... OMIM:620242
Stevenson-Carey Syndrome
Gastroesophageal reflux, Coloboma, Atrial septal defect, Left superior vena cava draining to coro... OMIM:611961
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, H... OMIM:251230
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ... OMIM:201750
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal lung lobation, Abnormal aortic morphology, Ventricular septal defec... ORPHA:2516
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Recurrent respiratory infections, High palate, Hypotelorism ORPHA:329178
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Reduced cerebral white matter volume, Joint hypermobility, Cervical C2/C3 vertebral fusion, Micro... OMIM:617333
Schilbach-Rott Syndrome
Long nose, Prominent nose, Hypotelorism OMIM:164220
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Ventriculomegaly, Hypoplasia of the corpus callosum, Aggressive behavior, Micro... ORPHA:457260
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Tyshchenko Syndrome
High, narrow palate, Proptosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, ... OMIM:615102
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Cryptorchidism, Coloboma, Atrial septal defect, Iris coloboma, Cleft palate ORPHA:921
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Gastroesophageal reflux, Cryptorchidism, Hypertelorism ORPHA:466926
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Microcephaly, Short neck, Thoracolumbar sc... OMIM:616549
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple pterygia, Abnorm... OMIM:312150
Septopreoptic Holoprosencephaly
Abnormal corpus callosum morphology, Abnormal vertebral morphology, Hypoplasia of the pons, Abnor... ORPHA:280195
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Hydrocephalus, Atrial septal defect,... OMIM:175700
Temple-Baraitser Syndrome
Gastroesophageal reflux, Atrial septal defect, Pulmonic stenosis, Hypertelorism OMIM:611816
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Cerebral atrophy, Inability to walk, Obsessive-compulsive trait, Low frustr... ORPHA:168491
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Walker-Warburg Syndrome
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Anophthalmia, Hydrocephalus, Microphtha... ORPHA:899
Joubert Syndrome 21
Occipital encephalocele, Splenomegaly, Encephalocele, Anophthalmia, Hypertelorism, Dysphagia, Pul... OMIM:615636
Osteogenesis Imperfecta
Tetraparesis, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skul... ORPHA:666
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar... OMIM:613834
Alagille Syndrome
Peripheral pulmonary artery stenosis, Cholestasis, Cryptorchidism, Reduced number of intrahepatic... ORPHA:52
Curry-Jones Syndrome
Broad thumb, Unicoronal synostosis, Polymicrogyria, Preaxial hand polydactyly, Hemimegalencephaly... OMIM:601707
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Patent foramen ovale, Coloboma, Transposition of the great arteries, Hyperteloris... OMIM:616789
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Anal atre... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Shoulder girdle muscle weakness, Calf muscle hypertrophy, Hyperlordosis, Thigh hypertrophy, Achil... OMIM:607155
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Deeply set eye OMIM:620393
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Abnormal heart morphology, Abnormal small intestine m... OMIM:219000
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Lymphopenia, Cryptorchidism, Hypotelorism, Deeply set eye, Anemia OMIM:616541
Chromosome 5Q12 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypertelorism, Macroglossi... OMIM:615668
Infantile Neuroaxonal Dystrophy
Mental deterioration, Eye of the tiger anomaly of globus pallidus, Short attention span, Emotiona... ORPHA:35069
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Lateral ventricle dilatation, Abnormal basal ganglia morphology, Abnorma... ORPHA:397715
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Proptosis, Dilation of Virchow-Robin spaces,... ORPHA:261311
Heart And Brain Malformation Syndrome
High, narrow palate, Interrupted aortic arch, Gastroesophageal reflux, Ventricular septal defect,... OMIM:616920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Cholestasis, Hepatic steatosis, Coarctation of ao... OMIM:614300
Acute Peripheral Arterial Occlusion
Paralysis, Limb pain, Lower limb pain ORPHA:90064
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele, Cleft palate, Hypertelorism ORPHA:398156
Megalencephaly
Macroorchidism, Atrial septal defect, Deeply set eye ORPHA:2477
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Memory impairment, Periventricular white matt... OMIM:619737
Acromelic Frontonasal Dysplasia
Bifid nasal tip, Broad nasal tip, Thick nasal alae, Encephalocele, Brachycephaly, Hypertelorism, ... ORPHA:1827
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Buratti-Harel Syndrome
Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Velo... OMIM:619314
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Cryptorchidism, Deeply set eye, Bicuspid aortic valve, Hypertelorism, Micr... ORPHA:261537
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD8-positive T cells, Decreased proportion... OMIM:611926
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal toe morphology, Microcephaly, Aplasia/Hypoplasia of the thumb, ... OMIM:216100
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Pyloric stenosis OMIM:218350
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Hypertelorism ORPHA:66625
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Primary microcephaly, Lateral ventricle dilatation, Cerebral atrophy OMIM:618266
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypotelorism OMIM:602418
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Inability to walk, Type II lissencephaly, Small bas... ORPHA:300570
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Chorioretinal coloboma, Umbilical hernia, Tetralogy of Fall... OMIM:280000
Japanese Encephalitis
Talipes equinovarus, Opisthotonus, Paucity of anterior horn motor neurons, Cerebral edema, Choreo... ORPHA:79139
Mowat-Wilson Syndrome
Aortic valve stenosis, Cryptorchidism, Deeply set eye, Bicuspid aortic valve, Hypertelorism, Micr... ORPHA:2152
Premature Aging Syndrome, Penttinen Type
Proptosis, Narrow nose, Thin calvarium, Prominent nasal bridge, Hypotelorism, Aplasia of the nasa... OMIM:601812
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Gastroesophageal reflux, Multiple muscular ventricular septal defects, Deeply set eye, Aortic ane... OMIM:620070
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Tongue thrusting, Corpus ca... ORPHA:77299
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Abnormal motor nerve conduction velocity, Pes cavus, Tremor, Vocal cord paral... OMIM:158580
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Gastroesophageal reflux, Recurrent respiratory infections, Cr... ORPHA:96170
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Microcephaly, Butterfly vertebrae, Fused cervical vertebrae OMIM:619227
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Cholestasis, Ex... OMIM:300972
Koolen-De Vries Syndrome
Kyphosis, Aplasia/Hypoplasia of the corpus callosum, Joint hypermobility, Arachnodactyly, Microce... ORPHA:96169
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Cryptorchidism, Ventricular septal ... OMIM:613001
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Short finger, Increased susceptibility to fractures, Multiple pterygia, Abnorm... OMIM:253290
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Saethre-Chotzen Syndrome
Depressed nasal bridge, Plagiocephaly, Prominent nasal bridge, Hypotelorism, Brachycephaly, Conve... ORPHA:794
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Neurofibrillary tangles, Cerebral atrophy, Short attention span, Emotional ... OMIM:610217
Alagille Syndrome 2
Cholestatic liver disease, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis... OMIM:610205
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Ventriculomegaly, Oral-pharyngeal dysphagia, Hypoplasia of the corpus... ORPHA:2524
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Intestinal malrotation, Protruding tongue, Cryptorchidism, Ventricul... OMIM:300963
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... OMIM:617668
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Umbilical hernia, Antenatal intracerebral hemorrhage, Hypotelorism, Bicuspid... ORPHA:536545
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defe... OMIM:617159
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Hypertelorism OMIM:263630
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Proptosis, Prominent nasal bridge, Hypotelorism, Dolichocephaly ORPHA:2215
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Diffuse cerebral atrophy, Scissor gait, Br... ORPHA:363654
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Umbilical ... OMIM:235510
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Leukopenia, Portal ... ORPHA:974
Pontocerebellar Hypoplasia, Type 17
Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Hypertelorism,... OMIM:619909
Acrocardiofacial Syndrome
Proptosis, Tetralogy of Fallot, Cryptorchidism, Mitral stenosis, Truncus arteriosus, Ventricular ... ORPHA:2008
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha... OMIM:184460
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... OMIM:620019
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Cryptorchidism, Deeply set eye, Ventricular septal defect, Bicuspid aortic... ORPHA:261552
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Ankyloglossia, Cryptorchidism, Deeply set eye, Hydrocephalus, Abnormal c... ORPHA:250989
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Scoliosis, Slender long bone, Delayed skeletal maturation, Periodic h... OMIM:170390
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Deeply set eye, High palate ORPHA:3306
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Umbilical hernia, Cryptorchidism, Atrial septal defect, Myeloid leukemia, H... ORPHA:404443
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Microcephaly, Thin corpus callosum, Partial agenesis of the corpus ... OMIM:619517
8Q12 Microduplication Syndrome
Gastroesophageal reflux, Atrial septal defect, Ventricular septal defect ORPHA:228399
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Abnormality of the gas... ORPHA:33276
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly... OMIM:616034
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele, Hypertelorism ORPHA:521308
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Intrahepatic biliary atresia, Cleft palate, L... OMIM:614815
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Kapur-Toriello Syndrome
Retinal coloboma, Intestinal malrotation, Tetralogy of Fallot, Ventricular septal defect, Microph... ORPHA:2328
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy, Splenomegaly, Atrial septal defect, Hypertelorism, Hepatomegaly, Pericardial eff... OMIM:608776
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Anemia, Atrial septal defect, Hepatomegaly, Recurrent respiratory in... ORPHA:1842
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Cryptorchidism, Microphthalmia, High palate, Iris coloboma ORPHA:139471
Noonan Syndrome 9
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Hypertelorism, Pulmonic stenosis OMIM:616559
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Deeply set eye, Esophageal atresia, Atrial septal defect, Microphthalmia OMIM:614526
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bifid uvula, Muscular ventricular septal defect, Hypotelorism, Truncus arteriosus, Deeply set eye... OMIM:612474
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Congenital contracture, Cerebral atrophy, Umbilical hernia, Elbow flexion contracture, Hip contra... OMIM:616266
Carpenter Syndrome 1
Polysplenia, Umbilical hernia, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Tr... OMIM:201000
Kapur-Toriello Syndrome
Retinal coloboma, Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Atrial septa... OMIM:244300
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... ORPHA:392
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Cryptorchidism, Patent foramen ovale, Ventricular septal defect... OMIM:618950
Tetraamelia Syndrome 2
Absent nipple, Hypoplastic pulmonary veins, Ankyloglossia, Bilateral lung agenesis, Ventricular s... OMIM:618021
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Carpenter Syndrome 2
High, narrow palate, Umbilical hernia, Supernumerary nipple, Bilateral cryptorchidism, Situs inve... OMIM:614976
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Optic nerve ... ORPHA:93932
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Proptosis, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegaly,... OMIM:235255
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Aicardi Syndrome
Optic atrophy, Small hand, Block vertebrae, Spasticity, Optic disc coloboma, Polymicrogyria, Butt... ORPHA:50
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Harrod Syndrome
Long nose, Hypotelorism ORPHA:2115
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Intestinal malrotation, Cryptorchidism, Deeply set eye, Ventricular septal ... OMIM:617602
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Lymphopenia, Leukopenia... OMIM:617053
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Arthrogryposis multiplex congenita, Scoliosis, Camptodactyly of finger, Ulnar... OMIM:601680
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Intestinal malrotation, Dilatation of the cerebral artery, Cholestasis, ... OMIM:613658
Coffin-Siris Syndrome 12
Depressed nasal bridge, Underdeveloped nasal alae, Bulbous nose, Anteverted nares, Prominent nasa... OMIM:619325
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Restrictive Dermopathy
Microcolon, Pulmonary hypoplasia, Small placenta, Large placenta, Short umbilical cord, Submucous... ORPHA:1662
Retinal Dystrophy With Leukodystrophy
Hypotelorism OMIM:618863
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Spinal canal stenosis, Long hallux, Cone-shaped epiphyses of the phalanges of the ... OMIM:101800
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Inability to walk, Bruxism, Microcephaly, Thin corpus callosum OMIM:615716
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Aggressive behavior, Microcephaly, Overfriendliness OMIM:618010
Timothy Syndrome
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... OMIM:601005
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulm... OMIM:616028
Trisomy X
Ventricular septal defect, Atrial septal defect, Hypertelorism ORPHA:3375
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Hypoplasia of the corpus callosum, Joint hypermobility, Microcephaly, Talipes eq... OMIM:213980
Houge-Janssens Syndrome 3
Proptosis, Umbilical hernia, Muscular ventricular septal defect, Atrial septal defect, Hypertelor... OMIM:618354
Potocki-Lupski Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Patent foramen ovale, Atrial septal defect, H... OMIM:610883
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Meningocele, Absent nasal septal cartilage ORPHA:2003
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Patent foramen ... ORPHA:500159
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Three M Syndrome 3
Slender long bone, Increased vertebral height, Joint hypermobility, Microcephaly, Short neck, Pro... OMIM:614205
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Cessation of head growth, Secondary microcephaly, Inappropriate laughter, Abnor... ORPHA:98794
Donnai-Barrow Syndrome
Proptosis, Umbilical hernia, Intestinal malrotation, Ventricular septal defect, Hypertelorism, Ir... ORPHA:2143
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Splenomegaly, Ventricular septal defect, Hydrocephalus, Hepatomegaly OMIM:615630
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Hypertelorism, Hydrocele t... OMIM:145420
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Recurrent respiratory infections, Inte... ORPHA:353281
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Ulnar deviation of the 2nd finger, Thora... OMIM:148050
Shashi-Pena Syndrome
Reduced cerebral white matter volume, Kyphosis, Cervical C2/C3 vertebral fusion, Deep palmar crea... OMIM:617190
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Kagami-Ogata Syndrome
Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Patent ductus arteri... OMIM:608149
Snijders Blok-Campeau Syndrome
Umbilical hernia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertelorism, ... OMIM:618205
Galloway-Mowat Syndrome 9
Hiatus hernia, Gastroesophageal reflux, Hypotelorism, Hypertelorism OMIM:619603
Myhre Syndrome
Ataxia, Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short t... OMIM:139210
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormally large globe, Pancreatic lymphangiectasis, Hepatosplenomega... ORPHA:1655
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Umbilical hernia, Intestinal malrotation, Tetralogy of Fallot, ... OMIM:135900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Microphthalmia, Cryptorchidism, Ventricular septal defect OMIM:613730
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Mitral valve prolapse, Ventricular... OMIM:616564
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615504
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Abnormal pelvic girdle bone morphology, Resting tremor, Delayed skeletal matu... OMIM:601162
Thakker-Donnai Syndrome
Agenesis of corpus callosum, Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae, Communic... ORPHA:1780
Acrootoocular Syndrome
Wide nasal base, Hypotelorism ORPHA:2980
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Microme... ORPHA:85166
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Cryptorchidism, Hypotelorism, Deeply set eye OMIM:602471
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... OMIM:612541
20P12.3 Microdeletion Syndrome
Atrial septal defect, Hypertelorism ORPHA:261295
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Cryptorchidism, Deeply set... OMIM:619503
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Ventricular septal defect, Cryptorchidism, Hypertelorism ORPHA:2772
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Broad foot, Agenesis of corpus callosum, Talipes ... ORPHA:373
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Abnormal mesentery morphology, Ventricular septal defect, Cryptorchidism, Hypertelorism ORPHA:2256
8P11.2 Deletion Syndrome
Hemolytic anemia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Spherocytosis, Atrial sept... ORPHA:251066
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Proptosis, Aspiration pneumonia, Cryptorchidism, Sp... OMIM:616368
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Recurrent lower respiratory tract infections, Atrial septal defect OMIM:617744
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Trisomy 8P
Dysplastic aortic valve, Bifid uvula, Malrotation of small bowel, Peripheral pulmonary artery ste... ORPHA:264450
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormally large globe, Ventricular septal defect, Cryptorchidism, Deeply set eye OMIM:618504
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Patent for... ORPHA:369891
De Barsy Syndrome
Prominent veins on trunk, Umbilical hernia, Hypoplastic aortic arch, Cryptorchidism, Deeply set e... ORPHA:2962
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Pes cavus, Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Primary Angiitis Of The Central Nervous System
Recurrent subcortical infarcts, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinso... ORPHA:140989
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Ventriculomegaly, Periventricular leukomalacia, Irritability, Aggressive... OMIM:619833
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect, Hypertelorism ORPHA:93267
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615505
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Median cleft palate, Hypoplasia of the thymus,... ORPHA:40366
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Roifman Syndrome
Recurrent pneumonia, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosin... OMIM:616651
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Gastroesophageal reflux, Bronchiolitis, Splenomegaly, Anemia, Thr... OMIM:230900
Mirror Movements 3
Situs inversus totalis OMIM:616059
Pelger-Huet Anomaly
Giant platelets, Umbilical hernia, Median cleft palate, Ventricular septal defect, Hyposegmentati... OMIM:169400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Furrowed tongue, Atrioventricula... ORPHA:453499
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Mosaic Trisomy 20
Clinodactyly, Spinal canal stenosis, Down-sloping shoulders, Vertebral segmentation defect, Limit... ORPHA:1724
Hyperlysinemia, Type I
Dysdiadochokinesis, Short attention span, Cognitive impairment, Hyperactivity OMIM:238700
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Kawasaki Disease
Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventric... ORPHA:2331
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Enthesitis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Abnormal thoracic spine morphology, Abnormal metatarsal morphology, Knee os... ORPHA:85438
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Dural ectasia, Broad uvula, Aortic root aneurysm, Aortic dissec... OMIM:614816
Optic Atrophy 11
Leukoencephalopathy, Ventriculomegaly, Stereotypical body rocking, Dysmetria, Microcephaly, Atten... OMIM:617302
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Umbilical hernia, Aniridia, Cryptorchidism, Anophthalmia, Tricuspid valve pr... ORPHA:1101
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Velopharyngeal insufficiency, Abnormal heart morphology, Muscular ventricular septal defect, Deep... ORPHA:363444
3P25.3 Microdeletion Syndrome
High, narrow palate, Coronary artery atherosclerosis, Ventricular septal defect, Pulmonic stenosi... ORPHA:435638
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia, Atrial septal defect ORPHA:51208
Bohring-Opitz Syndrome
Gastroesophageal reflux, Proptosis, Supernumerary nipple, Intestinal malrotation, Bilateral cleft... OMIM:605039
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Microce... OMIM:619103
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Reduced cerebral white matter volume, Secondary microcephaly, Irritability, Age... OMIM:620352
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Proptosis, Absent gallbladder, Cryptorchidism, Ventricular septal defect... ORPHA:163979
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Abnormality of globe size, High palate, Increased circulating prolactin concentration, Hypotelorism ORPHA:502423
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopa... OMIM:617506
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Hypertelorism, Optic nerve hyp... OMIM:615879
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Hypertelorism, High palate, ... OMIM:616866
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Hypertelorism, Right ventr... OMIM:614261
Burn-Mckeown Syndrome
Bifid uvula, Ventricular septal defect, Atrial septal defect, Hypertelorism, Cleft palate OMIM:608572
Thanatophoric Dysplasia Type 1
Proptosis, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Atrial septal defect, Patent ductus ar... ORPHA:1860
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypopl... ORPHA:3027
Cockayne Syndrome Type 2
Hepatomegaly, Cryptorchidism, Anophthalmia ORPHA:90322
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, Submucous cleft hard p... OMIM:612863
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Neuro... ORPHA:275872
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Increased axial length of the globe, Gastroesophageal reflux, Right aortic arch, Ventricular sept... ORPHA:513456
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Cryptorchidism, Ventricular septal defect, Aganglionic megacol... ORPHA:452
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Microphthalmia, Isolated 8
Retinal coloboma, True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Secundum atrial septal defect, Supernumerary nipple, Cryptorchi... OMIM:619951
Periventricular Nodular Heterotopia 7
Proptosis, Cryptorchidism, Deeply set eye, Ventricular septal defect, Hypertelorism, Cleft palate OMIM:617201
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Pseudo-Torch Syndrome 1
Umbilical hernia, Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly, Jaundice, H... OMIM:251290
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Hypotelorism, Vent... ORPHA:363700
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Atri... ORPHA:75389
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Al-Raqad Syndrome
Atrial septal defect, Deeply set eye OMIM:616459
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Hypotelorism, Patent ductus arte... OMIM:614557
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi... ORPHA:1923
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defe... OMIM:620609
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Lef... ORPHA:3282
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Ventriculomegaly, Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter mo... OMIM:616900
Recombinant 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Pulmonary artery stenosis, Abnorm... ORPHA:96167
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Coloboma, Microphthalmia, Cleft palate... OMIM:610125
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, Ve... OMIM:612938
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Diffuse white matter abnormalities, Lateral ventricle dilatation, Oral-p... ORPHA:208447
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumo... OMIM:613177
Hyperlysinemia
Pulmonary artery hypoplasia, Gastroesophageal reflux, Recurrent pneumonia, Hypotelorism, High pal... ORPHA:2203
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, High palate, Patent ductus arteri... OMIM:220500
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Coronary-pulmonary artery fistula, Patent foramen ovale, Hypertelorism OMIM:619699
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Dysplastic aortic valve, Absence of the pulmonary valve, Umbi... OMIM:601808
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Pineal cyst, Hypertelorism, Patent... OMIM:617516
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Normochromic microcytic anemia, Decreased testicular size, Cryptorchidism... OMIM:610198
Phace Association
Arterial stenosis, Lingual thyroid, Ventricular septal defect, Aortic aneurysm, Coarctation of ao... OMIM:606519
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Cryptorchidism, Ventricular septal defect OMIM:301039
Hypomandibular Faciocranial Dysostosis
Aglossia, Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma OMIM:241310
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fistul... ORPHA:268249
Linear Skin Defects With Multiple Congenital Anomalies 1
Anteriorly placed anus, Colonic atresia, Histiocytoid cardiomyopathy, Ventricular septal defect, ... OMIM:309801
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent respiratory infections, Hypertrophic ... OMIM:617303
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Iris coloboma, Patent foramen ovale, Hypertelorism ORPHA:88630
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Large placenta, Ventricul... ORPHA:1708
Filippi Syndrome
Proptosis, Cryptorchidism, Ventricular septal defect OMIM:272440
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Right aortic arch, Anophthalmia,... OMIM:164210
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Duodenal atresia, Decreased response to growth hormone st... OMIM:603467
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Aganglionic megacolon, Atrial septal defect,... OMIM:614749
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Aortic root aneurysm, Umbilical hernia, Abnormal heart morphology... ORPHA:2745
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Axenfeld-Rieger Syndrome, Type 3
Proptosis, Hypoplasia of the iris, Atrial septal defect, Hypertelorism, Patent ductus arteriosus OMIM:602482
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Anophthalmia, Microphthalmia, Hypertelorism ORPHA:2717
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Anteverted nares, Hypotelorism OMIM:619743
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Proptosis, Secundum atrial septal defect, Prominent scalp veins, Cryptorchidism, Hypot... OMIM:264090
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Proptosis, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Atrial septal defe... ORPHA:1790
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, C... ORPHA:43
Orofaciodigital Syndrome V
Bifid uvula, Optic disc coloboma, Recurrent respiratory infections, Hamartoma of tongue, Ankylogl... OMIM:174300
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Coronary artery fistula, Biventricular hypertrophy, Complete atrioventric... OMIM:619343
Fryns Syndrome
Meckel diverticulum, Chylothorax, Polysplenia, Intestinal malrotation, Cryptorchidism, Ventricula... OMIM:229850
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul... OMIM:617877
Intellectual Developmental Disorder, Autosomal Dominant 47
Gastroesophageal reflux, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Deeply ... OMIM:617635
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Dilated third ventricle, Lateral ventricle dilatation, Periventricular c... ORPHA:544488
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis OMIM:614198
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Ventricular septal defect, Atrial septal defect, Cleft palate, Deeply set eye ORPHA:261190
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal rectum morphology, Anophthalmia, Mi... ORPHA:2556
Cockayne Syndrome Type 1
Cryptorchidism, Anophthalmia, Deeply set eye, Anemia, Hepatomegaly ORPHA:90321
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353277
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteopenia, Umbilical hernia, Pathologic fracture, Tall lumbar vertebral bod... OMIM:102500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent respiratory infections, Recurrent sinusitis, Eosinophilia, Atrial ... OMIM:618282
Even-Plus Syndrome
Anal atresia, Atrial septal defect, Patent foramen ovale, High palate OMIM:616854
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hypertrophic cardiomyopathy, Atrial septal defect, Hyperteloris... OMIM:619383
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Atrial septal defect, Umbilical hernia ORPHA:1035
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,... OMIM:614868
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia... OMIM:612528
Variegate Porphyria
Paralysis OMIM:176200
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ... OMIM:617751
Cranioectodermal Dysplasia 1
High, narrow palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Recurrent respir... OMIM:218330
Lateral Meningocele Syndrome
High, narrow palate, Iris coloboma, Dural ectasia, Proptosis, Umbilical hernia, Cryptorchidism, V... ORPHA:2789
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Hydrocephalus, Hypertelorism, Cleft palate ORPHA:459061
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Cholelithiasis, Recurrent pneumonia, Furrowed tongue, Ventricular septal def... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Atrial septal defect, Hypertelorism, High palate, Dysphagia, Patent du... OMIM:617061
Lymphatic Malformation 7
Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Varicose veins, Anemia, Per... OMIM:617300
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:614823
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Esophagiti... OMIM:612562
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Chorioretinal coloboma, Macular hypoplasia, Hydrocephalus, Atrial septal defect, Right atrial enl... OMIM:615219
Myopathy With Extrapyramidal Signs
Leukocytosis, Splenomegaly, Ventricular septal defect, Hypertelorism, Hepatomegaly OMIM:615673
Sotos Syndrome
High, narrow palate, Gastroesophageal reflux, Muscular ventricular septal defect, Cryptorchidism,... OMIM:117550
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... ORPHA:3427
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618890
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal lymphatic vesse... ORPHA:464329
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Semilobar holoprosencephaly, Microcephaly, Hand polydactyly, Split hand, Split foot OMIM:129900
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Feingold Syndrome
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Esophageal atresia, Patent ductus ... ORPHA:1305
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Patent foramen ovale OMIM:618821
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Atrial septal defect, Patent foramen ovale, Hypertelorism OMIM:620075
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Gastroesophageal reflux, Furrowed tongue, Ventricular septal defect, Atrial ... OMIM:616449
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatic fibrosis, Proptosis, Tetralogy of Fallot, Cholestasis, Large placenta, Villo... OMIM:222470
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Macular coloboma, Retinal coloboma OMIM:107550
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prola... OMIM:609942
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Bilateral cryptorchidism, Decreased response to growth hormone stimulation t... ORPHA:485405
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Hypertelorism OMIM:611087
19P13.12 Microdeletion Syndrome
Proptosis, Hepatic steatosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hy... ORPHA:254346
Citrullinemia Type Ii
Memory impairment, Confusion, Abnormal eating behavior, Irritability, Aggressive behavior, Lethar... ORPHA:247585
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Hypertelorism, High palate OMIM:619542
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Supernumerary nipple, Tetralogy of Fallot, Encepha... OMIM:100300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Splenomegaly, Polycy... ORPHA:2969
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Common atrium, Left superior vena cava draining to coronary sinus,... OMIM:619143
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Cryptorchidism, Mitra... OMIM:605275
Loeys-Dietz Syndrome 5
Bifid uvula, Aortic root aneurysm, Proptosis, Cleft soft palate, Patent foramen ovale, Ventricula... OMIM:615582
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Abnorm... ORPHA:139396
Lymphatic Malformation 6
Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Pleural effusion, Splenomegaly... OMIM:616843
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Atrial septal defect, Hypertelorism, ... OMIM:613706
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Inability to walk, Dilated fourth ventricle, Dysplastic corpus callosum, ... ORPHA:357058
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnorma... ORPHA:141127
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency, Deeply set eye OMIM:613680
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Atria... ORPHA:457193
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anteriorly placed anus, Anophthalmia, Microphthalmia, Hypertelorism OMIM:248450
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Vocal cord paresis, Hypoplasia of the odontoid proc... OMIM:600373
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Protruding tongue, Cryptorchidism... ORPHA:96147
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Deeply set eye, Ventricular septal defect, Dysplasti... ORPHA:508488
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Deeply set eye, Bicuspid aortic valve,... OMIM:619720
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, High palate,... OMIM:617022
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Williams-Beuren Syndrome
Colonic diverticula, Gastroesophageal reflux, Peripheral pulmonary artery stenosis, Coronary arte... OMIM:194050
Czech Dysplasia
Platyspondyly, Limitation of joint mobility, Short toe, Thoracic kyphosis, Intervertebral space n... OMIM:609162
Spondylo-Ocular Syndrome
Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens, Hypertelorism ORPHA:85194
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Scalp-Ear-Nipple Syndrome
Depressed nasal bridge, Congestive heart failure, Frontal bossing, Anteverted nares, Calvarial sk... OMIM:181270
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Hypotelorism ORPHA:319675
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus, Cleft palate OMIM:243440
Congenital Heart Block
Endocardial fibroelastosis, Pleural effusion, Patent foramen ovale, Pericardial effusion, Patent ... ORPHA:60041
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chylothorax, Pleural effusion, Anophthalmia, Atrial septal defect, Microphthalmia, Leukemia ORPHA:2526
Loeys-Dietz Syndrome 6
Bifid uvula, Ventricular hypertrophy, Spontaneous pneumothorax, Broad uvula, Vertebral artery ane... OMIM:619656
Char Syndrome
Supernumerary nipple, Ventricular septal defect, Patent ductus arteriosus, Hypertelorism ORPHA:46627
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat... OMIM:600460
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Chorioretinal coloboma, Abnormal heart morphology, Cryptorchidism, Ventr... ORPHA:494344
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia... ORPHA:284417
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Patent foramen ovale, Ventricular septal defect,... OMIM:208085
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Branchial fistula, Ankyloglossia, Truncus arteriosus, Deeply set eye, Ventri... ORPHA:261330
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Syringomyelia, Atrial septal defect, G... ORPHA:436003
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Decreased response to growth hormone stimulation test, Cystic pattern on pulmonary H... OMIM:610978
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620197
Immunodeficiency 87 And Autoimmunity
Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ... OMIM:619573
Holt-Oram Syndrome
Cleft soft palate, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Patent... OMIM:142900
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... OMIM:608647
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... OMIM:618775
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Thr... OMIM:610733
Larsen-Like Syndrome
Joint dislocation, Delayed skeletal maturation, Macrocephaly, Radial deviation of the 4th finger,... OMIM:608545
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Cryptorchidism, Atrial septal defect, Hypertelorism, Pulmonic stenosis OMIM:611553
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, High palate, Mitral valve prolapse, Hypertelorism OMIM:615539
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormally large globe, Proptosis, Aortic root aneurysm, Mitral valve prolapse, Patent foramen ov... OMIM:245600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Talipes equinovarus, Short neck, Abnormality of the knee, Bilateral tali... ORPHA:251028
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Sh... OMIM:276820
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect, Acute myeloid leukemia, Atrial septal defect, Hyperte... OMIM:610832
Desbuquois Syndrome
Proptosis, Ventricular septal defect ORPHA:1425
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hypertelorism, Hepatomegal... OMIM:200995
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Patent foramen ovale, Ventricular septal defect, Deeply set eye, Atrial septal de... OMIM:270450
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia, Thin corpus callosum, Fro... OMIM:608629
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Atrial septal defect, Hyperteloris... OMIM:311900
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Chorioretinal coloboma, Deeply set eye, Recurrent lower respirator... OMIM:620194
7Q31 Microdeletion Syndrome
Gastroesophageal reflux, Atrial septal defect, Hypertelorism, Patent ductus arteriosus after birt... ORPHA:251061
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Cryptorchidism, Hypotelorism, Anterior pituitary hy... OMIM:615849
Coffin-Siris Syndrome 6
High, narrow palate, Gastroesophageal reflux, Atrial septal defect, Cleft palate OMIM:617808
Tarp Syndrome
Extramedullary hematopoiesis, Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena ... ORPHA:2886
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatospleno... ORPHA:505248
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Convex nasal ridge, Hypotelorism, Short nose OMIM:300661
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, ... OMIM:618606
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion, Microcephaly, Lumbar scoliosis, Scapular w... OMIM:617796
Warsaw Breakage Syndrome
Tetralogy of Fallot, High palate, Optic disc coloboma, Ventricular septal defect OMIM:613398
Ogden Syndrome
High, narrow palate, Proptosis, Cryptorchidism, Ventricular septal defect, Pulmonary artery stenosis ORPHA:276432
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Pulmonary hypoplasia, Bro... ORPHA:1199
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:618870
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta, Cleft palate OMIM:616954
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Loss of amb... ORPHA:2388
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Recurrent respiratory infections, Umbilical hernia... OMIM:620654
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis, Ventricular sep... ORPHA:85202
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Broad nasal tip, Trigonocephaly, Bulbous nose, Hypotelorism, Deeply set e... OMIM:309590
Chromosome 9P Deletion Syndrome
High, narrow palate, Ventricular septal defect, Perimembranous ventricular septal defect, Atrial ... OMIM:158170
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Dysphagia, Simplified gyral pattern OMIM:620001
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Gastroesophageal reflux, Ventricular septal defect, Atrial septal defect, Hypertelorism, Spina bi... OMIM:617360
Congenital Myopathy 15
Camptodactyly, Osteopenia, Vocal cord paralysis, Joint hypermobility OMIM:620161
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Patent foramen ovale, Deeply set eye, High palate, ... ORPHA:293939
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Hepatosplenomegaly, Atrial septal defect, Macroglossia, High palate, Patent ductus arteriosus ORPHA:397709
Ververi-Brady Syndrome
High palate, Transposition of the great arteries, Hypertelorism OMIM:617982
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Optic disc coloboma, Bilateral ... OMIM:300472
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Pes cavus, Hypoplasia of the corpus call... ORPHA:2072
Intellectual Disability-Strabismus Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Cryptorchidism, R... ORPHA:363528
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Tricuspid stenosis, Persistence of hemoglobin F, Elevated red ... OMIM:105650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Atrial septal defect, Neutropenia, Buphthalmos, Hig... OMIM:618005
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Noonan Syndrome
Proptosis, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Abnormality of the sple... ORPHA:648
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly OMIM:614833
Parkes Weber Syndrome
Dural ectasia, Arteriovenous malformation, Myelopathy, Vascular tortuosity, Spinal arteriovenous ... ORPHA:90307
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida, Abnormal joint morphology ORPHA:322
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Pleural effusion, Thrombocytopenia, Cerebral hemorrhage, Hepatomeg... OMIM:617397
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies OMIM:223350
Van Esch-O'Driscoll Syndrome
Bifid uvula, Ventricular septal defect, Pulmonary artery stenosis, Tracheoesophageal fistula, Eso... OMIM:301030
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Pulmonic stenosis, Atrial septal defect, Submucous cleft hard palate OMIM:619239
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Proptosis, Abnormal lung lobation, Abn... ORPHA:79328
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Ventricular septal defect OMIM:219730
Kleefstra Syndrome
Gastroesophageal reflux, Supernumerary nipple, Tetralogy of Fallot, Cryptorchidism, Ventricular s... ORPHA:261494
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Tracheomalacia, Pes cavus, Knee flexion contracture, T... OMIM:615490
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic arm shortening, ... OMIM:268305
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia, Ventricular septal defect OMIM:619083
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Zechi-Ceide Syndrome
Abnormal heart morphology, Atrial septal defect, Cleft palate ORPHA:217017
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Ventricular septal defect OMIM:147800
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Cleft palate ORPHA:93946
Aortic Aneurysm, Familial Thoracic 10
Dural ectasia, Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ar... OMIM:617168
Robinow Syndrome
Short distal phalanx of finger, Radioulnar dislocation, Fused thoracic vertebrae, Umbilical herni... ORPHA:97360
Brachytelephalangic Chondrodysplasia Punctata
Gastroesophageal reflux, Optic disc hypoplasia, Cervical cord compression, Ventricular septal def... ORPHA:79345
Machado-Joseph Disease Type 3
Degeneration of the striatum, Spasticity, Spinocerebellar tract degeneration, Substantia nigra gl... ORPHA:276244
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Cholestasis, Exocrine pancreatic insuf... OMIM:118450
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... OMIM:121050
Lujan-Fryns Syndrome
High palate, Macroorchidism, Atrial septal defect ORPHA:776
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatitis, Medial calcification of large arteries, ... ORPHA:391487
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Bifid uvula, Pulmonary artery aneurysm, Dural ectasia, Aortic... OMIM:609192
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Aggress... OMIM:618914
Classical-Like Ehlers-Danlos Syndrome Type 2
Elbow dislocation, Arachnodactyly, Pes planus, Hip dislocation, Osteopenia, Radioulnar dislocatio... ORPHA:536532
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Difficulty... ORPHA:572798
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Eye of the tiger anomaly of globus pallidus, Akine... OMIM:234200
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum... OMIM:617281
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Gm1 Gangliosidosis
Gastroesophageal reflux, Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology... ORPHA:354
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia OMIM:612527
Fraser Syndrome
Anal stenosis, Umbilical hernia, Myelomeningocele, Abnormal lung lobation, Microphthalmia, Enceph... ORPHA:2052
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... ORPHA:124
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Arteriovenous malformation, Lymphangioma, Venous insufficiency ORPHA:137608
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Hypertelorism OMIM:618027
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertelorism, Pulmonary artery atresia, High pa... OMIM:620113
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Secundum atrial septal defect, Polycythemia... ORPHA:870
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Cerebral calcification, Abse... ORPHA:2396
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Abnormal heart morphology, Submucous cleft hard palate, Ventricular septal ... ORPHA:457279
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Abnormal gastroin... ORPHA:404440
Von Willebrand Disease
Gastrointestinal hemorrhage, Microcytic anemia, Gastrointestinal angiodysplasia, Abnormal mitral ... ORPHA:903
Faciodigitogenital Syndrome, Autosomal Recessive
Down-sloping shoulders, Hyperextensible hand joints, Metatarsus adductus, Broad palm, Camptodacty... OMIM:227330
3Mc Syndrome 1
Supernumerary nipple, Ventricular septal defect, Atrial septal defect, Hypertelorism, Spina bifid... OMIM:257920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Dilated cardiomyopathy, Anteriorly placed anus, Patent foramen ovale, Ventricular sept... ORPHA:26793
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol... OMIM:613795
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent duc... ORPHA:2519
Alazami Syndrome
Atrial septal defect, Deeply set eye ORPHA:319671
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
White-Kernohan Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Hypotelorism, Short nose OMIM:619426
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventric... ORPHA:391641
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the corpus callosum, Stereotypical hand wringing, Dysplastic corp... OMIM:619179
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Hypertelo... OMIM:616897
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:616602
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Three M Syndrome 2
Short 5th finger, Slender long bone, Clinodactyly, Delayed skeletal maturation, Lumbar hyperlordo... OMIM:612921
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Atrial sep... ORPHA:2637
1P36 Deletion Syndrome
Gastroesophageal reflux, Annular pancreas, Dilated cardiomyopathy, Tetralogy of Fallot, Abnormali... ORPHA:1606
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Gastroesophageal reflux, Patent ductus arteriosus, Hypertelorism ORPHA:261279
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Atelosteogenesis Type I
Pulmonary hypoplasia, Proptosis, Hypertelorism, Malrotation of colon, Cleft palate, Abnormal panc... ORPHA:1190
Orofaciodigital Syndrome I
Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Myelomeningocele, Abnormal heart morphology... OMIM:311200
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Ventricular septal defect, High palate, Iris coloboma, Patent ductus arterio... ORPHA:52055
Al Kaissi Syndrome
High, narrow palate, Atrial septal defect, Hypertelorism OMIM:617694
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Gastroesophageal reflux, Anal atresia, Atrial septal defect, Hypertelorism, High p... OMIM:614080
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Cryptorchidism, Atrial septal defect, Ventricular septal defect OMIM:617452
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect OMIM:619721
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L... OMIM:203500
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Focal Dermal Hypoplasia
Anteriorly placed anus, Umbilical hernia, Intestinal malrotation, Myelomeningocele, Chorioretinal... OMIM:305600
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Ventricular ... OMIM:616777
Craniofacioskeletal Syndrome
Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial se... OMIM:300712
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ... OMIM:620005
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Bilateral cryptorchidism, Decreased te... OMIM:300998
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... OMIM:263520
Noonan Syndrome 13
Gastroesophageal reflux, Cryptorchidism, Mitral valve prolapse, Atrial septal defect, Hypertelori... OMIM:619087
Meier-Gorlin Syndrome 7
Anal stenosis, Proptosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Cryptorchidi... OMIM:617063
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent ductus arteriosus, Cryptorchidism, Patent foramen ovale OMIM:620327
Kleefstra Syndrome 1
Gastroesophageal reflux, Conotruncal defect, Protruding tongue, Cryptorchidism, Hypertelorism, Ma... OMIM:610253
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Dilated third ventricle, Head-banging, Lateral ventricle dilatation, Fre... OMIM:619575
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Ventricular septal defect OMIM:619995
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Talipes equinovarus, Craniosynostosis OMIM:601374
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Macroorchidism, Atrial septal defect, High palate, Ascending tubular a... OMIM:309520
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery ORPHA:1203
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Elbow contractur... OMIM:617137
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Incr... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Hepatic steatosis, Hypertrophic cardiomyopathy OMIM:614582
Schinzel-Giedion Syndrome
Spasticity, Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosum, Radioulnar s... ORPHA:798
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis OMIM:192950
Donnai-Barrow Syndrome
Proptosis, Umbilical hernia, Intestinal malrotation, Hypoplasia of the iris, Ventricular septal d... OMIM:222448
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
White-Sutton Syndrome
Bifid uvula, Gastroesophageal reflux, Patent foramen ovale, Atrial septal defect, Hypertelorism, ... OMIM:616364
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Pulmonic stenosis, Hydrocephalus, Atrial septal defect, Hypertelorism, Leukemia, ... OMIM:257300
Lymphedema-Distichiasis Syndrome
Chylothorax, Tetralogy of Fallot, Ventricular septal defect, Varicose veins, Microphthalmia, Pate... OMIM:153400
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Constricting Bands, Congenital
Abnormal lung lobation, Encephalocele, Cleft palate, Ectopia cordis OMIM:217100
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Anal stenosis, Gastroesophageal reflux, Intestinal malrotation, Ventricular septal d... OMIM:300373
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card... ORPHA:1880
Laryngeal Abductor Paralysis
Microcephaly, Talipes equinovarus, Vocal cord paralysis OMIM:150260
Phace Syndrome
Iris coloboma, Optic nerve hypoplasia, Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart ... ORPHA:42775
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Bohring-Opitz Syndrome
Cholelithiasis, Proptosis, Annular pancreas, Cardiomegaly, Coloboma, Abnormal cardiac septum morp... ORPHA:97297
Doors Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Sirenomelia, Thrombocytosis, Adrenal hyperplasia, ... ORPHA:79500
2Q31.1 Microdeletion Syndrome
Proptosis, Optic disc coloboma, Cryptorchidism, Ventricular septal defect, Coloboma, Atrial septa... ORPHA:251014
Renpenning Syndrome 1
Tetralogy of Fallot, Decreased testicular size, Situs inversus totalis, Ventricular septal defect... OMIM:309500
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Joint stiffness, De... ORPHA:98863
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Andersen-Tawil Syndrome
Small hand, Scoliosis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Joint hyper... ORPHA:37553
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Optic disc hypoplasia, Hypertelorism OMIM:619306
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Patellar hypoplasia, Delayed skeletal maturation, Pathologic fract... ORPHA:221016
Braddock-Carey Syndrome 1
Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Cleft... OMIM:619980
Wiedemann-Steiner Syndrome
Cryptorchidism, Atrial septal defect, Hypertelorism, High palate, Patent ductus arteriosus OMIM:605130
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Cryptorchidism, Atrial septal defect, Ventricular septal defect ORPHA:505237
Insulin-Like Growth Factor I Deficiency
Microcephaly, Short attention span, Hyperactivity OMIM:608747
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Abnormal right ventricle morphology, Retinal coloboma, Varicose veins, Transient ne... ORPHA:500095
14Q22Q23 Microdeletion Syndrome
Proptosis, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia, Hype... ORPHA:264200
Slc35A2-Cdg
Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callo... ORPHA:356961
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Optic nerve hypopla... OMIM:602535
Cardiofaciocutaneous Syndrome 1
Gastroesophageal reflux, Proptosis, Hypertrophic cardiomyopathy, Splenomegaly, Submucous cleft ha... OMIM:115150
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... ORPHA:699
47,Xyy Syndrome
Reduced social reciprocity, Attention deficit hyperactivity disorder, Hydrocephalus, Hyperactivit... ORPHA:8
Machado-Joseph Disease Type 1
Degeneration of the striatum, Spasticity, Spinocerebellar tract degeneration, Substantia nigra gl... ORPHA:276238
Machado-Joseph Disease Type 2
Degeneration of the striatum, Spasticity, Spinocerebellar tract degeneration, Substantia nigra gl... ORPHA:276241
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Atrial septal defect, Hypertelorism, High palate, Patent ductus arteriosus OMIM:609625
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram... OMIM:618748
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular hypertrophy, Atrial septal de... ORPHA:79330
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral atrophy, Spastic ga... OMIM:617296
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Mgat2-Cdg
Gastroesophageal reflux, Abnormal heart morphology, Ventricular septal defect, Hypoplastic nipple... ORPHA:79329
Jansen-De Vries Syndrome
Bicuspid aortic valve, Gastroesophageal reflux, Ventricular septal defect OMIM:617450
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Arterial dissection, Recurrent pneumonia, Aortic dissection, Abnormal venous... ORPHA:1900
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Episodic ataxia ORPHA:420179
Cardiomyopathy, Dilated, 2J
Dilated cardiomyopathy, Secundum atrial septal defect OMIM:620635
Paternal Uniparental Disomy Of Chromosome 5
Abnormally large globe, Secundum atrial septal defect ORPHA:96190
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Short toe, Short finger, Paralysis, Palmar hyperlinearity OMIM:242100
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Robinow Syndrome, Autosomal Dominant 3
Proptosis, Anteriorly placed anus, Cryptorchidism, Patent foramen ovale, Ventricular septal defec... OMIM:616894
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Atrial septal defect OMIM:620247
Woods Syndrome
Ventricular septal defect, Supernumerary nipple OMIM:615236
Brain-Lung-Thyroid Syndrome
Falls, Cavum septum pellucidum, Abnormal eating behavior, Short attention span, Agenesis of corpu... ORPHA:209905
Lissencephaly 9 With Complex Brainstem Malformation
Dysphagia, Ventricular septal defect, Hypertelorism OMIM:618325
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Anophthalmia, Microphthalmia, Iris colo... ORPHA:2250
Den Hoed-De Boer-Voisin Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Secondary microcephaly, Short ... OMIM:619229
Chromosome 14Q11-Q22 Deletion Syndrome
Gastroesophageal reflux, Bilateral cryptorchidism, Unilateral cryptorchidism, Cryptorchidism, Pat... OMIM:613457
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Joint stiffness, De... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Kyphosis, Elbow flexion contracture, Joint stiffness, De... ORPHA:98853
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Proptosis, Ventricular septal defect OMIM:617895
Thauvin-Robinet-Faivre Syndrome
Retinal coloboma, Varicose veins, Transient neutropenia, Mitral valve prolapse, Deeply set eye, V... OMIM:617107
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Venous malformation, Spinal cord lesion, Arteriovenous... ORPHA:79093
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... OMIM:300707
Wolf-Hirschhorn Syndrome
Proptosis, Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallblad... ORPHA:280
Silver-Russell Syndrome
Lower limb asymmetry, Abnormality of the calcaneus, Sandal gap, Delayed cranial suture closure, S... ORPHA:813
Kury-Isidor Syndrome
High palate, Ventricular septal defect, Deeply set eye OMIM:619762
Fontaine Progeroid Syndrome
Protruding tongue, Cryptorchidism, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, H... OMIM:612289
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Cholestasis, Pate... OMIM:620454
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Microcephaly, Hydrocephalus OMIM:614219
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction... ORPHA:352665
Serkal Syndrome
Pulmonary hypoplasia, Malrotation of small bowel, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Cranioectodermal Dysplasia 2
Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Polysplenia, Cholestasis, Splenomegaly, ... OMIM:613610
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Abnormal heart valve morphology, Mitral valve prolapse, Left ventricular hy... ORPHA:230851
Okamoto Syndrome
Aortic valve stenosis, Primum atrial septal defect, Anal stenosis, Gastroesophageal reflux, Exagg... ORPHA:2729
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal cerebral white matter morphology, Abnormal autonomic nervous system physiology ORPHA:83601
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Stiff neck, Incoordination, Limb pain, Speech apraxia, Abnormal ... ORPHA:297
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Mosaic Trisomy 1
Ventricular septal defect, Hepatic agenesis, Coarctation of aorta, Microphthalmia, Pulmonary arte... ORPHA:1692
Hajdu-Cheney Syndrome
Aortic valve stenosis, Umbilical hernia, Intestinal malrotation, Splenomegaly, Mitral stenosis, V... ORPHA:955
Histiocytoid Cardiomyopathy
Stroke-like episode, Congenital aphakia, Polycystic ovaries, Ventricular septal defect, Cardiomeg... ORPHA:137675
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Absent Achilles reflex,... OMIM:263570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Secundum atrial septal defect, Hypertelorism, Umbilical hernia OMIM:619758
Intellectual Developmental Disorder, Autosomal Recessive 65
Atrial septal defect, Secundum atrial septal defect, Cryptorchidism, Supernumerary nipple OMIM:618109
Kaufman Oculocerebrofacial Syndrome
Intestinal malrotation, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Hy... OMIM:244450
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... OMIM:258900
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Functional abnormality of the gastrointestinal tract, Abnormal heart... ORPHA:1340
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Hepatic steatosis,... ORPHA:17
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... OMIM:615550
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Exocrine pancreatic insufficiency, Splenomegaly, Ventric... OMIM:618268
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Gastroesophageal reflux, Absent nipple, Branchial cyst, Optic disc coloboma, Ankylog... OMIM:620186
Beckwith-Wiedemann Syndrome
Proptosis, Polycythemia, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insu... ORPHA:116
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Proptosis, Hydrocephalus OMIM:207410
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Ventri... OMIM:611812
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cholestasis, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Intrahepatic biliary dysgenesis, V... OMIM:614866
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Chorioretinal coloboma, Supernumerary nipple, Abnormal hear... OMIM:235730
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Distal Deletion 12Q
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Congenital hypertrophy of... ORPHA:96149
Oculoectodermal Syndrome
Proptosis, Supernumerary nipple, Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctat... OMIM:600268
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Anteriorly placed anus, Biliary atresia, Esophageal atresia, Primum ... OMIM:615272
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Hand muscle atrophy, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxi... OMIM:211530
Glioblastoma
Abnormal corpus callosum morphology, Cerebral edema, Abnormal cerebral white matter morphology, P... ORPHA:360
Ogden Syndrome
Cryptorchidism, Deeply set eye, Ventricular septal defect, Bicuspid aortic valve, Pulmonary edema... OMIM:300855
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Left ventricular noncompaction, Patent foramen oval... OMIM:619167
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Synostosis involving the 1st metacarpal, Talipes valgus, Speech apraxia, Pseudobulbar paralysis, ... ORPHA:466791
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Ventricular septal defect OMIM:609654
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Arthrogryposis multipl... OMIM:253310
Branchiooculofacial Syndrome
Gastroesophageal reflux, Retinal coloboma, Supernumerary nipple, Ectopic thymus tissue, Branchial... OMIM:113620
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Pneumothorax, Hydr... OMIM:218040
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Atrial septal defect, Hypertelorism, Cleft palate OMIM:614207
3Q29 Microduplication Syndrome
Aniridia, Ventricular septal defect, Ectopic anus, Microphthalmia, High palate, Iris coloboma, Cl... ORPHA:251038
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Dysphagia, Patent foramen ovale, Ventricular septal defect OMIM:614961
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Cryptorchidism, Deeply set eye, Ventricular septal defect, Aortic aneurysm... ORPHA:96121
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Proptosis, Ectopic anterior pituitary gland, Ventricular septal defect, Atrial septal defect, Hyp... OMIM:620558
Fetal Alcohol Syndrome
Atrial septal defect, Cleft palate, Microphthalmia ORPHA:1915
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Ventricular septal defect, Hepatomegaly, Jaundic... OMIM:613404
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Hig... OMIM:300867
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Protruding tongue, Cryptorchidism, Intrahepatic biliary dysgenesis, Prolonge... OMIM:214100
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Delayed skeletal maturation, Plantar hyperkeratosis, Metaphyseal... ORPHA:221008
Norrie Disease
Hypoplasia of the iris, Cryptorchidism, Hypotelorism, Deeply set eye, Venous insufficiency, Remna... ORPHA:649
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Alveolar Echinococcosis
Pulmonary cyst, Biliary cirrhosis, Abnormal mesentery morphology, Abnormal pericardium morphology... ORPHA:284
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:614105
Genitopatellar Syndrome
Gastroesophageal reflux, Cryptorchidism, Atrial septal defect, Hypertelorism, Pulmonary hypoplasia ORPHA:85201
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Hypertelorism, Common atrium, Pulmonic stenosis ORPHA:96168
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Cleft palate, Microphthalmia ORPHA:2728
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Hypertelorism OMIM:616901
Atrial Septal Defect 9
Bicuspid aortic valve, Secundum atrial septal defect OMIM:614475
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Specc1L-Related Hypertelorism Syndrome
Proptosis, Umbilical hernia, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atri... ORPHA:1519
Radio-Tartaglia Syndrome
High, narrow palate, Gastroesophageal reflux, Deeply set eye, Ventricular septal defect, Hypertel... OMIM:619312
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron... ORPHA:803
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Ramos-Arroyo Syndrome
Xerostomia, Smooth tongue, Aganglionic megacolon, Atrial septal defect, Hypertelorism, Patent duc... ORPHA:1051
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, ... ORPHA:280633
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Patent foramen ovale OMIM:618832
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Jejunoileal ulceration, Hepatitis, ... ORPHA:436252
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Coloboma, Anophthalmia, Microphthalmia OMIM:615877
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Gastroesophageal reflux, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Pulmon... OMIM:610759
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular septal defect... OMIM:312870
Cerebrofacioarticular Syndrome
Self-injurious behavior, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:314679
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Chromosome 16P13.3 Duplication Syndrome
Short thumb, Short toe, Sandal gap, Cervical C5/C6 vertebrae fusion, Pes cavus, Periventricular l... OMIM:613458
Cooper-Jabs Syndrome
Ventricular septal defect, Anteriorly placed anus, Umbilical hernia ORPHA:1488
Opitz Gbbb Syndrome
Gastroesophageal reflux, Umbilical hernia, Rectourethral fistula, Cryptorchidism, Ventricular sep... OMIM:300000
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hand m... ORPHA:99956
Poliomyelitis
Myelitis, Fasciculations, Stiff neck, Abnormal motor nerve conduction velocity, Hyperkinetic move... ORPHA:2912
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Optic disc coloboma, Cryptorchidism, Deeply set eye, Ventricular septal defect... ORPHA:261337
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Cryptorchidism, Ventricular septal defect ORPHA:166035
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Lymphatic Malformation 13
Patent foramen ovale, Atrial septal defect, Hypertelorism, Hydrocele testis, Patent ductus arteri... OMIM:620244
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal def... OMIM:617925
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Tetralogy of Fallot, Abnormal... ORPHA:1465
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Large placenta, Ventricular septal defect, Umbilical hernia ORPHA:254534
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:271520
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Abnormal morphology of the great vessels, Ankyloglossia, Hypertelorism, Cleft p... ORPHA:488642
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle res... OMIM:272750
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Cryptorchidism, Complete atrioventricular canal defect, At... OMIM:611174
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortic roo... OMIM:620025
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Atrial septal defect, Cleft palate, Ventricular septal defect OMIM:610536
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Atrial septal defect, Submucous cleft hard palate, Deeply set eye OMIM:618891
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Gabriele-De Vries Syndrome
Tip-toe gait, Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Cortical dy... OMIM:617557
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonary hypoplasia, Optic nerve hypoplasia, Proptosis, Optic disc colobo... ORPHA:536471
Cutis Laxa, Autosomal Recessive, Type Iic
Bilateral cryptorchidism, Biventricular hypertrophy, Median cleft palate, Mitral valve prolapse, ... OMIM:617402
Yunis-Varon Syndrome
High, narrow palate, Proptosis, Cardiomyopathy, Bilateral microphthalmos, Tetralogy of Fallot, Re... ORPHA:3472
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Shallow orbits, Hepato... ORPHA:96191
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Dilatation of the cerebral artery, Pituitary growth hormone cell adenoma, H... ORPHA:730
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Khan-Khan-Katsanis Syndrome
Lymphopenia, Patent ductus arteriosus after premature birth, Patent foramen ovale, Dysphagia, Neu... OMIM:618460
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Cleft palate ORPHA:79113
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Gastroesophageal reflux, Cleft palate, Ventricular septal defect ORPHA:447980
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Patent ... OMIM:620024
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Pleural effusion, Cardiomegaly, Hepatomegaly, Right atria... ORPHA:1677
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, HbH hemoglobin, Umbilical hernia, Protruding tongue, Cryptorchidism, Ven... OMIM:301040
X Small Rings
Aortic root aneurysm, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Hypertel... ORPHA:96201
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Stroke, Cardiomegaly, Sinus venosus ... ORPHA:1478
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect OMIM:619908
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Spasticity And Poor Growth
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Hypertelorism, Recurrent resp... OMIM:618076
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Ventricular septal defect, Cleft palate, Umbilical hernia ORPHA:1770
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Hypertrophic cardiomyopathy, Pneumothorax, Atrial septal defect, Hypert... OMIM:617403
21Q22.11Q22.12 Microdeletion Syndrome
Hypoplastic nipples, Atrial septal defect, Thrombocytopenia, Hypertelorism, Anemia ORPHA:261323
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Talipes equinovarus, Hydroce... OMIM:258040
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Chime Syndrome
Acute leukemia, Retinal coloboma, Tetralogy of Fallot, Ventricular septal defect, Transposition o... ORPHA:3474
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Adrenal hyperplasia, Ventricular septal defect ORPHA:369929
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Pulmonary venous occlusion, P... ORPHA:2260
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proptosis, Velopharyngeal insufficiency, Ventricular septal defect, Atrial septal defect, High pa... OMIM:620663
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri... OMIM:612098
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Microphthalmia, Syndromic 1
High, narrow palate, Pulmonary hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Ciliary b... OMIM:309800
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Anal stenosis, Anoperineal fistula, Intestinal malrotation, Crypt... OMIM:147920
Zaki Syndrome
High palate, Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Congenital Disorder Of Glycosylation, Type Iie
Gastroesophageal reflux, Secundum atrial septal defect, Protruding tongue, Splenomegaly, Perimemb... OMIM:608779
ERI1-related disease
Proptosis, Velopharyngeal insufficiency, Abnormal heart morphology, Ventricular septal defect, Hi... OMIM:608739
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Microspherophakia, Ventricular septal defect, Shallow orbits, Narrow palat... OMIM:277600
Noonan Syndrome 1
High, narrow palate, Chylothorax, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, ... OMIM:163950
Costello Syndrome
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral valve prolapse, Vent... ORPHA:3071
C Syndrome
Cryptorchidism, Ventricular septal defect, Hepatomegaly, High palate, Patent ductus arteriosus OMIM:211750
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Steroid-responsive anemia, Reticulocytopenia, Anemi... OMIM:613309
Congenital Disorder Of Glycosylation, Type Iiw
Gastroesophageal reflux, Increased hepatic echogenicity, Tetralogy of Fallot, Ankyloglossia, Micr... OMIM:619525
Alg12-Cdg
Recurrent pneumonia, Gastroesophageal reflux, Intestinal malrotation, Biventricular hypertrophy, ... ORPHA:79324
Zellweger Syndrome
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Jaundice, High palate, Pyloric stenosis ORPHA:912
Dysosteosclerosis
Ventricular septal defect, Hypertelorism ORPHA:1782
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Secundum atrial septal defect, Pulmonic stenosis, Deeply set eye OMIM:615802
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Atrioventricular canal defect, Cryptorchidism, Submucous cleft hard palate, Ventricu... ORPHA:3047
Mucolipidosis Type Ii
Cardiomyopathy, Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Abnormal mitral valve morphol... ORPHA:576
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Ventricular septal def... ORPHA:261250
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Cryptorchidism, Deeply set eye, Ventricular septal defect, Bicuspid aortic ... OMIM:607872
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cryptorchidism, Patent foramen... OMIM:607143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Gastroesophageal reflux, Restrictive cardiomyopathy, Abnormal lung lobation,... ORPHA:369837
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect OMIM:616730
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Portal hyperte... OMIM:610199
Bdv Syndrome
Atrial septal defect, Cryptorchidism OMIM:619326
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Mitral atresia, Ventricular septal defect, Pulmonic stenosis, Atrial se... OMIM:614609
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Umbilical hernia ORPHA:1292
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Deeply set eye, Ventricular septal defect, Hypertelorism, High palate, P... OMIM:606232
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Cerebral atrophy, Microcephaly, Primary microcephaly, Dysphagia OMIM:619847
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Ventricular septal def... OMIM:616682
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Optic nerve hypoplasia, Hydrocephalus, Hypertelorism ORPHA:457284
Cohen Syndrome
High, narrow palate, Aplasia/Hypoplasia of the tongue, Cryptorchidism, Mitral valve prolapse, Ven... ORPHA:193
Angioosteohypotrophic Syndrome
Venous malformation, Prominent superficial veins ORPHA:75508
Zttk Syndrome
Bifid uvula, Absent gallbladder, Submucous cleft hard palate, Deeply set eye, Ventricular septal ... OMIM:617140
Ctcf-Related Neurodevelopmental Disorder
Gastroesophageal reflux, Pulmonary hemorrhage, Cryptorchidism, Deeply set eye, Coarctation of aor... ORPHA:363611
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Microspherophakia, Umbilical hernia, Ventricular septal defect, Shallow or... OMIM:608328
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Basal ganglia calcification, Cerebral calcification, Optic nerve co... OMIM:259730
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Left ventricular hypertrophy, Shallow orbits, Atrial septal defect, Hypertelorism OMIM:620510
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Aceruloplasminemia
Hypochromic microcytic anemia, Elevated hepatic iron concentration, Abnormal pancreas morphology,... ORPHA:48818
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Proptosis, Microphthalmia, Cryptorchidism, Biliary tract abnormality, Ventricul... OMIM:268300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no... OMIM:300967
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Abnormality of coordination, Femoral bowing, Lower limb spasticity, Macrocep... OMIM:616462
Beck-Fahrner Syndrome
Cardiomegaly, High palate, Ventricular septal defect OMIM:618798
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Arteria lusoria, Anteriorly placed anus, Supernumerary nipple, Cryptorchidism, Patent foramen ova... OMIM:618653
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Patent foramen ovale, Cleft palate, Atrial septal defect, Oral-pharyngeal dysphagia OMIM:619184
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Milroy Disease
Hydrocele testis, Abnormal venous morphology, Varicose veins ORPHA:79452
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Filippi Syndrome
Ventricular septal defect, Cryptorchidism, Supernumerary nipple ORPHA:3255
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... OMIM:620519
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Tetralogy of Fallot, Microphthalmia, Hypertelorism, Cleft palate ORPHA:306542
Hoxha-Aliu Syndrome
High palate, Atrial septal defect, Perimembranous ventricular septal defect OMIM:620662
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Joint swelling, Osteolysis, Fused cervical vertebrae OMIM:612852
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Pancreatic ... OMIM:616263
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Colonic diverticula, Hepatic fibrosis, Dilated cardiomyopathy, Anterior... OMIM:243800
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation, Choreoathetosis OMIM:231670
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arteriovenous malformation, Venous insufficiency ORPHA:624
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Head-banging, Hypoplasia of the corpus callosum OMIM:618569
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Distal Deletion 6P
Hypoplasia of the iris, Atrial septal defect, Hypertelorism ORPHA:96125
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Recurrent infections due to aspiration, Atrial septal defect, Recurrent ... ORPHA:70
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, C... OMIM:617260
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Cleft palate, Ventricular septal defect OMIM:618348
African Trypanosomiasis
Myelitis, Involuntary movements, Myelopathy, Fasciculations, Abnormal central motor function, Tre... ORPHA:3385
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Pancytopenia, Microphthalmia, Cryptorchidism, Ventricular septal def... OMIM:227645
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Cryptorchidism, Supernumerary nipple ORPHA:217346
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificati... OMIM:619487
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Hypertelorism, Anemia OMIM:620072
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hyp... OMIM:607721
Cornelia De Lange Syndrome 1
High, narrow palate, Pneumonia, Gastroesophageal reflux, Proptosis, Optic disc coloboma, Cryptorc... OMIM:122470
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Hypertelorism, Microphthal... OMIM:272950
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Bifid uvula, Secundum atrial septal defect OMIM:619121
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts, Vascular dilatation OMIM:616307
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microvesicular hepatic steatosis, Cirrhosis, Atrial septal defect, Elevated hepatic iron concentr... OMIM:300868
Glycogen Storage Disease Ib
Inflammation of the large intestine, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutropenia... OMIM:232220
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Gastroesophageal reflux, Proptosis, Secundum atrial septal defect... OMIM:616268
Cog5-Cdg
Lateral ventricle dilatation, Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcepha... ORPHA:263487
Williams Syndrome
Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao... ORPHA:904
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia, Anemia, Optic nerve hyp... OMIM:609069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Umbilical hernia, Intestinal malrotation, Cryptorchidism, Mitral valve prolapse, Hiatus hernia, T... OMIM:601776
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Neut... OMIM:617941
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Proptosis, Tetralogy of Fallot, Muscular ventricular septal defect, Cryp... OMIM:210710
Eisenmenger Syndrome
Bacterial endocarditis, Increased mean corpuscular volume, Tetralogy of Fallot, Abnormal heart mo... ORPHA:97214
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Atrial septal defect, Double inlet left ventricle, High palate, Patent ductu... OMIM:619869
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodegeneration, Myoclonus, P... OMIM:203700
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Anteriorly placed anus, Cryptorchidism, Hypertelorism, Microphthalmia, High palate OMIM:268400
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Duodenal atresia, Breast hypoplasia, Cryptorchidi... ORPHA:464306
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Hypertonia, Flexion contracture ORPHA:682
Spondyloenchondrodysplasia
Ventriculomegaly, Abnormal lateral ventricle morphology, Cerebral calcification, Abnormal periven... ORPHA:1855
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Villou... OMIM:557000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Biventricular hypertrophy, Left ventricular hypertrophy, Patent foramen ovale, Ventricular septal... OMIM:615474
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Overlapping toe, Contracture of the distal interphalangeal joint of the... ORPHA:83617
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... OMIM:263200
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... ORPHA:402075
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Fibular... ORPHA:444077
Cornelia De Lange Syndrome 6
Gastroesophageal reflux, Atrioventricular canal defect, Ventricular septal defect, Hypertelorism,... OMIM:620568
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Livedoid Vasculopathy
Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Venous insufficiency, Anemia, Varicose... ORPHA:542643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Gastroesophageal reflux, Increased circulating prolac... ORPHA:438213
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Gastroesophageal reflux, Duodenal atresia, Cryptorchidism, Posterior pitui... ORPHA:464311
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Hypoplastic nipples, Shallow orbits, Atrial septal defect, Hypertelorism, Macrogl... OMIM:269150
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... ORPHA:64744
Microcephaly 30, Primary, Autosomal Recessive
Cleft soft palate, Secundum atrial septal defect OMIM:620183
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Abnormal venous morphology, Abnormality of the lymphatic s... ORPHA:276280
Bainbridge-Ropers Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Inability to walk, Recurrent hand flapping... OMIM:615485
Lethal Kniest-Like Dysplasia
Atrial septal defect, Cleft palate ORPHA:2347
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Emphysema, Transient ischemic at... ORPHA:500150
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Hepatomegal... OMIM:610505
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Cerebrocostomandibular Syndrome
Anal stenosis, Gastroesophageal reflux, Anteriorly placed anus, Cleft soft palate, Ventricular se... OMIM:117650
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Periventricular leukomalacia, Abnormal caudate nucleus morphology, ... ORPHA:293725
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Volvulus, Cryptorchidism, Pancreatic islet-cell hy... OMIM:267000
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Gastroesophageal reflux, Xerostomia, Decreased testicular size, Cryptorchi... ORPHA:398069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale ORPHA:542306
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Clapo Syndrome
Venous malformation, Lymphangioma, Varicose veins ORPHA:168984
Rabson-Mendenhall Syndrome
Cardiomyopathy, Furrowed tongue, Ventricular septal defect, Enlarged ovaries, Atrial septal defec... ORPHA:769
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Recurrent respiratory i... OMIM:208500
Renal Tubular Acidosis Iii
Periodic paralysis, Rickets, Osteomalacia OMIM:267200
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Penile Agenesis
Bilateral lung agenesis, Cryptorchidism, Ventricular septal defect, Anal atresia, Tracheoesophage... ORPHA:49
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Macroglossia, Atrial septal defect ORPHA:93947
Ulnar-Mammary Syndrome
Breast aplasia, Cryptorchidism, Ventricular septal defect, Ectopic anus, Hypoplastic nipples, Ana... ORPHA:3138
Fibrochondrogenesis 1
Patent foramen ovale, Proptosis, Cleft palate OMIM:228520
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Tetralogy of Fallot, Ventricular septal defect, Aganglionic megacol... OMIM:154400
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Cryptorchidism, Anophthalmia, Coloboma, Microphthalmia, High palate, A... OMIM:607932
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Arterial dissection, Inflammation of the large intestine, Hepatic fibrosis, ... ORPHA:99413
Distal Deletion 19P
Umbilical hernia, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve atresia, C... ORPHA:96129
Mosaic Monosomy X
High, narrow palate, Arterial dissection, Inflammation of the large intestine, Hepatic fibrosis, ... ORPHA:99228
Monosomy X
High, narrow palate, Arterial dissection, Inflammation of the large intestine, Hepatic fibrosis, ... ORPHA:99226
Turner Syndrome
High, narrow palate, Arterial dissection, Inflammation of the large intestine, Hepatic fibrosis, ... ORPHA:881
Marfan Syndrome
Genu recurvatum, Dural ectasia, Premature osteoarthritis, Pes cavus, Equinus calcaneus, Limited e... OMIM:154700
Omodysplasia 1
Umbilical hernia, Cryptorchidism, Ventricular septal defect, Pulmonary artery stenosis, Atrial se... OMIM:258315
Bardet-Biedl Syndrome 20
Pancreatitis, Atrial septal defect, Bilateral cryptorchidism OMIM:619471
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Submucous cleft soft palate, Ventricular septal d... OMIM:608670
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Bruxism, Reduced social reciprocity, Irritability... OMIM:615873
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Decreased response to growth hormone stimulation test, Cryptorchidism, Deepl... ORPHA:488632
Townes-Brocks Syndrome
Anteriorly placed anus, Chorioretinal coloboma, Tetralogy of Fallot, Abnormal pulmonary valve mor... ORPHA:857
Ring Chromosome 12 Syndrome
High, narrow palate, Breast hypoplasia, Secundum atrial septal defect, Cryptorchidism ORPHA:1439
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short uvula, Proptosis, Chorioretinal coloboma, Dilatation of the cerebral a... OMIM:619475
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascending tubular aorta aneurysm ORPHA:444072
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Gastroesophageal reflux, Dilatation of the ventricular cavity, Decreased testicular size, Cryptor... ORPHA:459070
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Dilatation of the cerebral artery, Emphyse... OMIM:130050
Peters-Plus Syndrome
Anteriorly placed anus, Umbilical hernia, Retinal coloboma, Cryptorchidism, Biliary tract abnorma... OMIM:261540
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Supernumerary nipple OMIM:106260
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valve, Unilateral cryptorchidism, ... OMIM:605822
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Ventricular septal defect OMIM:123700
Ebstein Anomaly
Ebstein anomaly of the tricuspid valve, Atrial septal defect OMIM:224700
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Irritability, Microcephaly, Dysp... OMIM:618367
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain ORPHA:319251
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Submucous cleft hard palate, Patent foramen ovale, Elliptocytosis, Anemia, Patent du... OMIM:300990
Oculodentodigital Dysplasia
High palate, Atrial septal defect, Cleft palate, Microphthalmia OMIM:164200
Turnpenny-Fry Syndrome
Gastroesophageal reflux, Recurrent respiratory infections, Carotid artery tortuosity, Mitral valv... OMIM:618371
Restrictive Dermopathy 1
Hydropic placenta, Short umbilical cord, Submucous cleft hard palate, Atrial septal defect, Hyper... OMIM:275210
Von Hippel-Lindau Disease
Polycythemia, Cardiomyopathy, Stroke, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, My... ORPHA:892
6Q Terminal Deletion Syndrome
Abnormal cerebral cortex morphology, Polymicrogyria, Gait ataxia, Hypoplasia of the corpus callos... ORPHA:75857
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Gastroesophageal reflux, Decreased response to growth hormone stimulation ... ORPHA:268261
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Proteus Syndrome
Pulmonary cyst, Arteriovenous malformation, Proptosis, Chorioretinal coloboma, Thymus hyperplasia... ORPHA:744
Inhalational Botulism
Paralysis ORPHA:254504
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Microcephaly, Colpocephaly, Ataxia OMIM:620083
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Cryptorchidism, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Hypert... OMIM:619522
Renal Agenesis
Pulmonary hypoplasia, Anal atresia, Ventricular septal defect ORPHA:411709
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Mandibuloacral Dysplasia Progeroid Syndrome
Proptosis, Patent foramen ovale, Left ventricular hypertrophy, Mitral valve calcification, Shallo... OMIM:619127
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Atrial septal defect OMIM:620076
Bartsocas-Papas Syndrome 1
Anal stenosis, Bilateral cryptorchidism, Patent foramen ovale, Hypertelorism, Microphthalmia, Ana... OMIM:263650
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Diphallia
Gastrointestinal duplication, Duplicated colon, Abnormal heart morphology, Cryptorchidism, Abnorm... ORPHA:227
Cerebellofaciodental Syndrome
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect OMIM:616202
Gitelman Syndrome
Paralysis, Chondrocalcinosis, Ataxia OMIM:263800
Sandhoff Disease
Exaggerated startle response OMIM:268800
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 vertebral fus... OMIM:211380
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Bicuspid aortic valve, Chalazion, Hypertelorism, Patent ductus art... OMIM:613355
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Cryptorchidism, Patent foramen ovale, Anterior pituitary hypoplasia, Hypertelorism... OMIM:619841
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Atrial septal defect ORPHA:522077
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis, Hypertelorism OMIM:601321
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Increased susceptibility to fractures, Paralysis, Reduced bone mineral den... ORPHA:18
Orofaciodigital Syndrome Type 14
Retinal coloboma, Hamartoma of tongue, Bilateral cryptorchidism, Aplasia of the epiglottis, Ventr... ORPHA:434179
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Gastroesophageal reflux, Ventricular septal defect OMIM:614653
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Cholestasis, Abnormal esophagus physiolo... ORPHA:198
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Hypertelorism ORPHA:477993
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... OMIM:245150
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect OMIM:609460
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid hypoplasia, Patent foramen ovale, Ectopic thyroid OMIM:225250
Neuroocular Syndrome 1
Short uvula, Umbilical hernia, Ankyloglossia, Submucous cleft hard palate, Deeply set eye, Patent... OMIM:619539
Pancreatic Agenesis 2
Steatorrhea, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Generalized Arterial Calcification Of Infancy
Osteomalacia, Cerebral calcification, Abnormal hip joint morphology, Hypophosphatemic rickets, Ab... ORPHA:51608
Sotos Syndrome
Small cell lung carcinoma, Gastroesophageal reflux, Umbilical hernia, Abnormal heart morphology, ... ORPHA:821
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Von Hippel-Lindau Syndrome
Polycythemia, Pheochromocytoma, Pulmonary capillary hemangiomatosis, Spinal hemangioblastoma, Hep... OMIM:193300
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Pallister-Killian Syndrome
Aortic valve stenosis, Bifid uvula, Anal stenosis, Proptosis, Anteriorly placed anus, Umbilical h... OMIM:601803
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Hypoplastic nipples, Atrial septal defect, High palate, Cyst of the ductus choled... ORPHA:480880
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619479
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Cryptorchidism, Ventricular se... OMIM:606170
Gitelman Syndrome
Paralysis, Cerebral calcification, Chondrocalcinosis, Gout ORPHA:358
Craniotubular Dysplasia, Ikegawa Type
Proptosis, Ventricular septal defect, Hypertelorism OMIM:619727
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Arterial dissection, Gastroesophageal reflux, Aortic root aneurysm, Umbilica... ORPHA:285
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Tricuspid stenosis, Mitral stenosis, Ventricular ... OMIM:143095
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Supernumerary nipple, Submucous cleft soft palate, Ventricular septal defect, Submucous cleft har... ORPHA:1071
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Witteveen-Kolk Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive behav... OMIM:613406
Cornelia De Lange Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Cryptorchidism, Ventricular septal def... ORPHA:199
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Pancreatic atrophy, Pancreatic hypoplasia, Biliary tract abnor... OMIM:137920
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test, Breast hypoplas... ORPHA:506358
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Breast hypoplasia... OMIM:181450
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Cleft palate, Umbilical hernia ORPHA:1934
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Secundum atrial septal defect, Dysphagia, Patent ductus arteriosus, Optic nerve hypoplasia OMIM:620455
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Acute myelomonocytic leukemia, Secundum atrial septal defect, Vascular tortu... ORPHA:99646
Pineoblastoma
Paralysis, Papilledema, Midline brain calcifications ORPHA:251909
Yunis-Varon Syndrome
Absent nipple, Proptosis, Cardiomyopathy, Aspiration pneumonia, Tetralogy of Fallot, Cryptorchidi... OMIM:216340
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, Recurrent pneumonia, Umbilical hernia, Recurrent bronchitis, Ventricular septal defe... OMIM:620330
Congenital Disorder Of Glycosylation, Type Iim
High palate, Gastroesophageal reflux, Atrial septal defect OMIM:300896
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Ventricular septal defect OMIM:259770
Keppen-Lubinsky Syndrome
Microcephaly, Lateral ventricle dilatation OMIM:614098
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrial septal defect OMIM:250220
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent upper respiratory tract infections, Hydromyelia, Umbilical hernia, Cryptorchidism, Agan... OMIM:308205
Tyrosinemia, Type I
Hypophosphatemic rickets, Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Osteopenia, Periodic hypokalemic paresis, Tremor ORPHA:91347
Familial Cerebral Cavernous Malformation
Spinal cord lesion, Venous malformation, Cerebral hemorrhage ORPHA:221061
Faciocardiomelic Syndrome
Common atrium OMIM:612731

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 Zic2

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 Zic2.

No publications found that use IMPC mice or data for Zic2.

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
Zic2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zic2tm302430(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zic2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zic2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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