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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
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Frontal Encephalocele
Encephalocele, Spina bifida, Hypertelorism, Hydrocephalus, Dolichocephaly, Calvarial skull defect ORPHA:1931
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Acalvaria
Spina bifida, Hypertelorism, Hydrocephalus, Holoprosencephaly, Calvarial skull defect ORPHA:945
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Limitation o... ORPHA:3265
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl... OMIM:605376
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Anencephal... ORPHA:1590
Holoprosencephaly 5
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Alobar holoprosencephal... OMIM:609637
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micro... ORPHA:2570
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Hypotelorism, Proptosis... OMIM:142945
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal foot morphology, Preaxial... ORPHA:64754
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Mental retardation, x-linked, syndromic, Turner type
Macrocephaly, Limited elbow extension, Holoprosencephaly, Tapered finger OMIM:300706
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Microcephaly, Small hand, Narrow palm, Spasticity, Holopros... ORPHA:1445
Microhydranencephaly, X-Linked
Multiple joint contractures, Holoprosencephaly, Microcephaly OMIM:306990
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestinal malrotation, Asplen... OMIM:619657
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Microhydranencephaly
Multiple joint contractures, Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brai... OMIM:605013
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, H... OMIM:264480
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Joint stiffness, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydroceph... ORPHA:2182
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity, Progressive microcephaly OMIM:608443
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Abdominal... OMIM:614779
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Microceph... ORPHA:1908
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Vissers-Bodmer Syndrome
Decreased head circumference, Holoprosencephaly, Tapered finger OMIM:619033
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Hypotelorism, Colob... OMIM:147250
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormal shoulder m... ORPHA:2345
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Spasticity, Cerebral cortical atrophy, Holoprosencephaly, Microcephaly ORPHA:2523
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous synda... OMIM:236500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno... ORPHA:500166
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... OMIM:611134
Muenke Syndrome
Tarsal synostosis, Hydrocephalus, Macrocephaly, Short foot, Cone-shaped epiphysis, Short palm, Ca... ORPHA:53271
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Ulnar deviation of the hand, Postaxial polydactyly, Posta... OMIM:614175
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... ORPHA:93351
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism ORPHA:2165
Schisis Association
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly ORPHA:63862
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Craniotelencephalic Dysplasia
Frontal encephalocele, Craniosynostosis, Hypotelorism OMIM:218670
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... ORPHA:2633
Distal Monosomy 7Q36
Microcephaly, Short neck, Optic atrophy, Symphalangism affecting the phalanges of the hand, Hyper... ORPHA:1636
Hypoglossia With Situs Inversus
Situs inversus totalis, Asplenia, High palate, Polysplenia, Microglossia OMIM:612776
Pelvis-Shoulder Dysplasia
Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty... ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Kyphosis, Hydrocephalus, Limitation of joint mobility, Joint hyperflex... ORPHA:93274
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Dextrocardia
Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of... ORPHA:1666
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... ORPHA:1822
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Hypertelorism, Asplenia, Cryptorchidism, Cleft palate, Hypotelorism, A... OMIM:619123
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Hartsfield Syndrome
Encephalocele, Depressed nasal bridge, Craniosynostosis, Hypertelorism, Lobar holoprosencephaly ORPHA:2117
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Facial palsy, Spinal dysraphism, Abnormality of bone mineral d... ORPHA:1114
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Intestina... ORPHA:99776
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Microcephaly, Short distal phalanx of finger OMIM:601355
Holoprosencephaly 11
Proptosis, Holoprosencephaly, Hypotelorism OMIM:614226
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short... ORPHA:90652
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Absent septum pellucidum, Anterior encephalocele, Foot oligodactyly, Holoprosencepha... OMIM:601357
Mesomelia-Synostoses Syndrome
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,... ORPHA:2496
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Hyd... ORPHA:63259
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Cyclopia, Holoprosencephaly ORPHA:990
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cousin Syndrome
Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, ... OMIM:260660
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Hypotelorism, High palate, Atrial septal defe... OMIM:612946
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Goiter OMIM:617577
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Talipes, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Joint contracture, Cerebellar ... OMIM:225790
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Flexion contracture, Vocal cord paralysis, Hand tremor, Increased laxity of... ORPHA:99947
Holoprosencephaly
Anophthalmia, Abnormality of the spleen, Hypotelorism, Deeply set eye, Gastroesophageal reflux, H... ORPHA:2162
Microform Holoprosencephaly
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Hypotelorism, Holopros... ORPHA:280200
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... ORPHA:178382
Xk Aprosencephaly Syndrome
Ventricular septal defect, Hypotelorism, Atrial septal defect, Microphthalmia, Anal atresia ORPHA:3469
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Deeply set eye, Hydrocephalus, Hypotelorism ORPHA:251046
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anteverted nares, Prominent nasal bridge, Proboscis, Hyperteloris... OMIM:605627
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Hypertelorism, Submucous c... ORPHA:3426
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Holoprosencephaly, Chorioretinal coloboma OMIM:611638
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... ORPHA:1327
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Deeply set eye, ... OMIM:265380
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Microcephaly, Inability to walk, Cerebral atrophy, Abnormal cerebral white matter ... OMIM:616657
Global Developmental Delay With Or Without Impaired Intellectual Development
Ventricular septal defect, Patent ductus arteriosus, Hypotelorism, Pulmonary sequestration, Atria... OMIM:618330
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Adducted thumb, Uln... ORPHA:1147
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Coronary si... OMIM:618280
Holoprosencephaly 14
Frontal bossing, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydr... OMIM:619895
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Coxa valga, Microcephaly, Delayed skeletal maturation, Hypoplastic vertebral bo... ORPHA:2163
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Leukoencephalopathy, Cerebral ... OMIM:221770
Hydrolethalus
Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Age... ORPHA:2189
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left... OMIM:615524
Anophthalmia Plus Syndrome
Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Iris coloboma ORPHA:1104
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... ORPHA:2741
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Cyclopia, Alobar holopr... OMIM:301043
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Agenesis of corpus callosum, Proximal placement of thumb, Alobar holoprosencephaly OMIM:615433
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Optic atrophy, Hypertonia, Holoprosencephaly,... ORPHA:588
Meckel Syndrome
Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia of the ton... ORPHA:564
Steel Syndrome
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clino... OMIM:615155
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Abnormal foot morpholo... ORPHA:3219
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:601370
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Tarsal synostosis, Elbow contracture, Multiple pterygia, Crani... OMIM:178110
Masa Syndrome
Lower limb spasticity, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, ... OMIM:303350
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... OMIM:163400
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Dextrocardia, Diastomatomyelia, Meningocele, Duodenal steno... ORPHA:1759
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph... OMIM:605282
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Abnor... ORPHA:363417
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Cle... ORPHA:2166
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypertelorism, ... OMIM:220210
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Diprosopus
Anencephaly ORPHA:1681
Diaphanospondylodysostosis
Short neck, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, ... ORPHA:66637
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Transposit... OMIM:314390
Leukoencephalopathy With Vanishing White Matter 5
Progressive neurologic deterioration, Megalencephaly, Abnormal cerebral white matter morphology, ... OMIM:620315
Joubert Syndrome 15
Oculomotor apraxia, Preaxial polydactyly, Exencephaly, Ataxia OMIM:614464
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Holoprosencephaly 2
Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Proboscis, Alobar holoprosenc... OMIM:157170
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Syringo... OMIM:207950
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Hypotelorism, Aplasia of the nose, Cyclopia, Ethmocephaly, M... OMIM:236100
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Hypotelorism... ORPHA:250999
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect... OMIM:244400
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Thoracolumbar scoliosis, Myelome... ORPHA:2437
Anencephaly 2
Anencephaly OMIM:619452
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,... ORPHA:1657
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Hypertelorism OMIM:277740
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... ORPHA:1330
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus,... OMIM:601186
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Waardenburg Syndrome, Type 3
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Microcephaly, Spastic paraplegi... OMIM:148820
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Tapered... OMIM:619148
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver... ORPHA:1756
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capi... OMIM:147891
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Tetralogy of Fallot, Hypotelorism ORPHA:276422
Triploidy
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callo... ORPHA:3376
Pentalogy Of Cantrell
Encephalocele, Talipes, Abnormal tibia morphology, Split hand, Hydrocephalus, Anencephaly, Aplasi... ORPHA:1335
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Limitation of joint mobility, Optic atr... ORPHA:99742
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Microcephaly, Kyphosis,... ORPHA:3121
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... ORPHA:750
Microcephaly With Cervical Spine Fusion Anomalies
Spinal cord compression, Vertebral fusion, Spinal instability, Microcephaly OMIM:251250
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Cleft pala... ORPHA:1926
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Hydrocephalus, Anencephaly, Broa... OMIM:269860
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hypotelorism OMIM:618974
Trisomy 18
Choanal atresia, Spina bifida, Hypertelorism, Anencephaly, Prominent occiput, Holoprosencephaly, ... ORPHA:3380
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Holoprosencephaly 4
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Hypotelorism, Semilob... OMIM:142946
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Hypotelorism, Holoprosencephaly, Microphthalmia, Cyclopia, ... ORPHA:3186
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra... ORPHA:95699
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... ORPHA:93307
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Cleft palate, Gastroesophageal reflux, Holoprosencepha... ORPHA:261236
Cerebrocostomandibular Syndrome
Hydranencephaly, Cerebral calcification, Spina bifida, Tracheomalacia, Microcephaly, Kyphosis, My... ORPHA:1393
Juvenile Huntington Disease
Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Hyperactivity, Depression, Gait ataxia,... ORPHA:248111
Monosomy 18P
Kyphoscoliosis, Microcephaly, Short neck, Holoprosencephaly, Brachydactyly ORPHA:1598
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, Knee flexion contracture, Shor... OMIM:613776
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Chromosome 6Q11-Q14 Deletion Syndrome
Prominent nasal bridge, Hypertelorism, Broad nasal tip, Hypotelorism, Umbilical hernia, Short nose OMIM:613544
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Hypotelorism, Deeply set eye, Spina bifida occulta, Iris coloboma OMIM:268850
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... ORPHA:2756
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Agyria, Hypoplasia of the pyramidal tract, Spinal ri... OMIM:253800
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
49,Xxxxy Syndrome
Pes planus, Down-sloping shoulders, Coxa valga, Elbow dislocation, Short neck, Tremor, Hip disloc... ORPHA:96264
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Hydrocepha... ORPHA:77298
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Hypotelorism, Hypoplastic nasal septum, Holoprosencephaly... OMIM:610828
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, H... OMIM:616546
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Leukoencephalopathy, Depression, Lateral ventricle dilatation, Dementia, Progressive leuk... OMIM:615889
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy, Agenesis o... OMIM:605899
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Intestinal malrotat... OMIM:618316
Lambotte Syndrome
Preaxial foot polydactyly, Microcephaly, Semilobar holoprosencephaly OMIM:245552
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Microcephaly, Spastic paraplegia, Abnormal finger morph... ORPHA:896
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Gorlin Syndrome
Vertebral fusion, Cerebral calcification, Arachnodactyly, Palmar pits, Hydrocephalus, Plantar pit... ORPHA:377
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Semilobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Abnormal heart rate ... ORPHA:220386
Alobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Abnormal heart rate ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Abnormal heart rate ... ORPHA:93926
Lobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Abnormal heart rate ... ORPHA:93924
Vacterl/Vater Association
Finger syndactyly, Occipital encephalocele, Abnormal intervertebral disk morphology, Preaxial han... ORPHA:887
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Short neck, Li... OMIM:616038
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... OMIM:602849
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b... ORPHA:3429
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Stormorken Syndrome
Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, Hy... OMIM:185070
Trisomy 13
Anophthalmia, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorch... ORPHA:3378
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... ORPHA:894
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... OMIM:300845
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Hyperactivity, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of th... OMIM:613402
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Meckel Syndrome, Type 6
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p... OMIM:612284
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Inability to walk, Unst... OMIM:620317
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... OMIM:301107
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Joint stiffness, Microcephaly, Kyphosis, Abnormality of the elbow, Hip disloca... ORPHA:1005
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Vertebral segmentation defect, Holopro... OMIM:612530
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Macrocephaly, Ap... ORPHA:1307
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Wide nasal bridge, Hypotelorism ORPHA:3366
Proboscis Lateralis
Choanal atresia, Proboscis, Hypertelorism, Patent ductus arteriosus, Optic disc coloboma, Single ... ORPHA:141099
Meckel Syndrome, Type 1
Occipital encephalocele, Asplenia, Hypotelorism, Lobulated tongue, Iris coloboma, Accessory splee... OMIM:249000
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodacty... OMIM:161200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Kyphoscoliosis, Hypopla... OMIM:615349
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Deeply set eye, Anemia ORPHA:3204
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Vertebral segmentatio... ORPHA:1323
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Arachnoid Cyst
Encephalocele, Back pain, Facial palsy, Posterior fossa cyst at the fourth ventricle, Spinal cord... ORPHA:2356
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Cryptorchidism, Patent ductus arteriosus, High palate, Anterior hypopituitarism, An... ORPHA:2863
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus, Abnormal calvaria morphology, Hypotelorism ORPHA:1952
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, Microcephaly, Vertebral clefting, Hemivertebrae, 2-3... OMIM:614701
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Hypertelorism, Cryptorchidism, Neutropenia, Atrial septa... OMIM:618067
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Sweeney-Cox Syndrome
Hypertelorism, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Velopharyngeal insuf... OMIM:617746
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio... OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Halperin-Birk Syndrome
Flexion contracture, Hip dislocation, Optic atrophy, Spastic tetraplegia, Colpocephaly, Hypertoni... OMIM:618651
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Prominent nose, Bulbous nose, Hypotelorism, Midface retrusion OMIM:618916
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Trigonocephaly With Short Stature And Developmental Delay
High palate, Ventricular septal defect, Hypotelorism OMIM:314320
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Left superior vena cava drai... OMIM:613759
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Pulmonic sten... OMIM:179613
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Frontoocular Syndrome
Hypotelorism, Proptosis, High palate, Pulmonic stenosis, Atrial septal defect OMIM:605321
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect, Cleft palate OMIM:617616
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Anteverted nares, Hypertelorism, Depressed nasal ridge, Brachycephaly, Hypotelorism, Prominent oc... OMIM:618672
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Palmar pits, Hydrocephalu... OMIM:109400
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Micr... OMIM:615297
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Ventricular septal defect, Hypotelorism ORPHA:3369
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Narrow foo... OMIM:600383
Conotruncal Heart Malformations
Hypertelorism, Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation... OMIM:217095
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... ORPHA:99050
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Micr... OMIM:611890
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, A... ORPHA:468631
Neu-Laxova Syndrome 1
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus c... OMIM:256520
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Aniridia, Microphthalmia, Hypoplastic spleen, Ankyloglossia OMIM:602361
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic ... ORPHA:3304
Wildervanck Syndrome
Facial palsy, Short neck, Meningocele, Fused cervical vertebrae, Pseudopapilledema ORPHA:3456
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Trisomy 1Q
Anophthalmia, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus,... ORPHA:261344
Trisomy 20P
Finger syndactyly, Incoordination, Camptodactyly of finger, Talipes, Spina bifida, Short neck, Pr... ORPHA:261318
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Hyperactivity, Ataxia, Inability to walk, Dysplastic corpus callosum ORPHA:599373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... ORPHA:508498
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... OMIM:614019
Cutis Laxa, Autosomal Recessive, Type Iib
Frontal bossing, Narrow nasal ridge, Hypertelorism, Hydrocephalus, Bulbous nose, Hypotelorism, De... OMIM:612940
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Paralysis, Areflexia of lower limbs, Hyporeflexia of ... OMIM:608634
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Multiple joint contractures, Single transverse palmar crease, Cerebel... OMIM:618291
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Optic nerve hypoplasia, Microcephaly, Short neck,... OMIM:615583
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Os... OMIM:177170
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Aglossia, Cleft palate, Pulmonary hypoplas... OMIM:202650
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Microph... OMIM:613885
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Pagod Syndrome
Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm... ORPHA:991
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... OMIM:114290
1Q21.1 Microduplication Syndrome
Hypertelorism, Cryptorchidism, Hydrocephalus, Gastroesophageal reflux, Tetralogy of Fallot ORPHA:250994
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postaxial polydactyly, Sh... OMIM:619879
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Pseudoaminopterin Syndrome
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme... ORPHA:221120
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Periventricular white matter hyperintensities, Attention deficit hype... OMIM:301008
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Tonne-Kalscheuer Syndrome
Hypertelorism, Cryptorchidism, Velopharyngeal insufficiency, Abnormal heart morphology, Hypotelor... OMIM:300978
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Agenesis of corpus callosum, A... OMIM:218600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Paralysis, Areflexia of lower limbs, Hyporeflexia of ... OMIM:158590
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... ORPHA:370010
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Microcephaly, Aggressive behavior, Self-biting, Bradykinesia, Self-in... OMIM:619827
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Neu-Laxova Syndrome
Osteopenia, Cerebral calcification, Micromelia, Flexion contracture, Opisthotonus, Pterygium, Pac... ORPHA:2671
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Abnormally large globe, Hydrocephalus, Vascular ring, Atrial septal de... OMIM:603387
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... ORPHA:710
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Anteverted nares, Hypertelorism, Bulbous nose, Wide nasal bridge, Hypotelorism, ... OMIM:613604
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Stiff neck, Areflexia of upper limbs, Myelopat... ORPHA:268882
Giacheti Syndrome
Hypotelorism OMIM:612917
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... OMIM:249270
Split Cord Malformation
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Abnor... ORPHA:573278
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single transverse palmar c... ORPHA:3191
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas... OMIM:108720
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen... ORPHA:2438
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Supernumerary nipple, Hypertelorism, Cryptorchidism, Coarctation of aorta, Deeply s... OMIM:618929
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm ORPHA:3238
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Diffuse alveolar hemorrhage, Asplenia, Cervical lymphadenopathy, ... OMIM:614034
2Q23.1 Microduplication Syndrome
Prominent nose, Bulbous nose, Hypotelorism, Prominent nasal tip, Midface retrusion ORPHA:313947
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormality of... OMIM:184705
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Aicardi Syndrome
Butterfly vertebrae, Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Proximal placem... OMIM:304050
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypotelorism, High palate, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Ataxia, Impulsivity, Inability to walk, Bra... OMIM:617854
Catel-Manzke Syndrome
Ventricular septal defect, Hypertelorism, Cleft palate, Glossoptosis, Atrial septal defect ORPHA:1388
Trigonocephaly 1
Craniosynostosis, Wide nasal bridge, Hypotelorism, Trigonocephaly, Short nose OMIM:190440
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Facial palsy, Microcephaly, Hyperlordosis, Kyphosis, Achille... OMIM:606612
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Ataxia, Hydrocephalus, Depression,... ORPHA:73256
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... OMIM:304120
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Spinal dysraphism, Scoliosis OMIM:612918
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Frontotemporal dementia, Repetitive compulsive behavior, Hypersexuality,... OMIM:607485
Isolated Exencephaly
Depressed nasal bridge, Abnormal calvaria morphology, Proptosis, Holoprosencephaly, Hypoplasia of... ORPHA:563612
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Hypotelorism, Prominent occiput, Holoprosencephaly, Semilobar ... ORPHA:556955
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Talipes, Microcephaly, Spinal dysraphism, Unilateral vocal ... OMIM:617660
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Intellectual Developmental Disorder, Autosomal Recessive 5
Prominent nasal bridge, Hypertelorism, Prominent nose, Underdeveloped nasal alae, Wide nasal brid... OMIM:611091
Cartilage-Hair Hypoplasia
Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Abnormal f... ORPHA:175
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Hypertelorism, Cryptorchidism, Cleft ... OMIM:614294
Aarskog-Scott Syndrome
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... ORPHA:915
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypertelorism, Pyloric stenosis, Hyd... OMIM:147791
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Microcephaly, Short neck, Anencephaly, Aplasia/hypoplasia involv... ORPHA:96176
Cataract-Intellectual Disability-Hypogonadism Syndrome
Midface retrusion, Depressed nasal bridge, Brachycephaly, Hypotelorism ORPHA:1387
Cranioectodermal Dysplasia
Frontal bossing, Anteverted nares, Craniosynostosis, Hypotelorism, Prominent occiput, Dolichocephaly ORPHA:1515
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Thromb... ORPHA:290
Li-Campeau Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Gastrointesti... OMIM:619189
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Hypertelorism, Patent ductus a... OMIM:618652
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand p... OMIM:236680
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius... ORPHA:3412
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Tarsal Coalition
Tarsal synostosis OMIM:186850
Multiple Synostoses Syndrome 4
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Cat Eye Syndrome
Biliary atresia, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Hypertelorism, Pate... OMIM:115470
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormalit... ORPHA:2538
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:192430
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebral atrophy, Knee flexion contracture, Facial diplegia, Distal arthrogryposis, Hy... OMIM:616286
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Hypotelorism, Plagiocepha... OMIM:617822
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Wide nasal bridge, Hypotelorism OMIM:613192
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Claw hand deformity, Paralysis, Distal upper limb musc... OMIM:605285
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal lung l... OMIM:614114
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Hypertelorism, Bulbous nose, Brachycephaly, Wide... OMIM:613174
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Narrow nasal ridge, Hypertelorism, Brachycephaly, Hypotelorism, Umbilical hernia OMIM:219150
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal arthrogryposis, Neo... OMIM:616287
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Sacral dimple, Abnormal cortical gyration... ORPHA:2211
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Emotional lability, Social... ORPHA:98818
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypertelorism, Esophageal atresia, Patent ductus arteriosus, Hydrocephalus, Cryptor... OMIM:227646
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... ORPHA:93315
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Depressed nasal bridge, Long nasal bridge, Hypotelorism OMIM:162100
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Hypertelorism, Patent duct... OMIM:612561
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Intestinal malrotation, Hypertelorism, Cryptorchidism, Abnormal heart ... ORPHA:401935
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mid... ORPHA:2326
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Microcephaly, Aggressive behavior, Hydrocephalus, Simplified gyr... OMIM:619470
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Lateral Meningocele Syndrome
Vertebral fusion, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningocele, Dural ectasia,... OMIM:130720
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
8P23.1 Duplication Syndrome
Ventricular septal defect, Hypertelorism, Deeply set eye, Pulmonic stenosis, Tetralogy of Fallot ORPHA:251076
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dysplastic corpus callosum, Ataxia, Microcephaly OMIM:618276
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Myelomeningocele, Hydro... ORPHA:1914
Alg3-Cdg
Osteopenia, Cerebral white matter atrophy, Spastic tetraparesis, Microcephaly, Hypoplasia of the ... ORPHA:79321
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Microcephaly, Ch... ORPHA:565
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Meta... ORPHA:163966
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Broad nasal tip, Hypotelorism OMIM:619719
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Microcephaly, Cerebral atrophy, Lethargy, Agenesis of corpus callosum OMIM:274270
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... ORPHA:93929
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Microceph... ORPHA:2332
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... OMIM:214800
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Short neck, Holoprosencephaly, ... ORPHA:1587
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Hypertelorism, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Syringomy... ORPHA:261197
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow nasal bridge, Flat occiput, Brachycephaly, Hypotelorism ORPHA:2511
Marden-Walker Syndrome
Dextrocardia, Hypertelorism, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate,... OMIM:248700
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Proptosis ORPHA:3303
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr... OMIM:600145
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef... ORPHA:2257
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
Tetrasomy 15Q26
Hypertelorism, Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Syringomyelia, H... OMIM:614846
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia, Cerebral atrophy OMIM:615924
Distal Deletion 10Q
Frontal bossing, Prominent nasal bridge, Craniosynostosis, Prominent nose, Patent ductus arterios... ORPHA:96148
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Deeply set eye, High palate ORPHA:261120
Weyers Acrofacial Dysostosis
Hypotelorism OMIM:193530
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Hypotelorism OMIM:618718
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Hypertelorism, Atrial septal defect, Microphthalmia, Tetralogy of Fallot OMIM:300887
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ... OMIM:619534
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent septum pellucidum, Microcephaly, Spasticity, Lobar holoprosencephaly, Hypoplasia of the co... OMIM:618500
Waardenburg Syndrome, Type 1
Spina bifida, Underdeveloped nasal alae, Hypertelorism, Myelomeningocele, Wide nasal bridge OMIM:193500
Lissencephaly Syndrome, Norman-Roberts Type
Hypertelorism, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale ORPHA:89844
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Double outlet righ... OMIM:614886
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Phakomatosis Pigmentokeratotica
Spina bifida, Hemiparesis, Scoliosis, Hemiatrophy, Hypophosphatemic rickets ORPHA:2874
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cleft pa... OMIM:620210
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Hydrocephalus, Abnormal cardiac ventricle morphology, Patent ductus arteri... ORPHA:2306
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Hypertelorism, Cryptorchidism, M... OMIM:301056
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... OMIM:300863
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Flat occiput, Hypotelorism, Deeply set eye, Pulmonary hemorrhage OMIM:603585
Autosomal Recessive Robinow Syndrome
Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilateral single trans... ORPHA:1507
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hepatic cysts OMIM:613095
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Hypotelorism OMIM:615042
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Absent septum pellucidum, Kyphoscoliosis, Joint stiffness, Dysplastic corpus callosum... OMIM:618820
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duode... ORPHA:2470
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis ORPHA:306550
22Q11.2 Deletion Syndrome
Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Gastroesophageal refl... ORPHA:567
Hallermann-Streiff Syndrome
Wormian bones, Abnormality of the hand, Spina bifida, Microcephaly, Hyperlordosis, Metaphyseal wi... OMIM:234100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a... OMIM:277380
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypertelorism, Cleft palate, Hypoplastic left heart, Transposition of ... ORPHA:1727
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Stereotypical body rocking, Agitat... OMIM:309548
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Bulbous nose, Hypotelorism, Holoprosencephaly, Chorioretinal coloboma, Dolichoce... OMIM:613884
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... ORPHA:93314
Phenylketonuria
Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Irritabilit... OMIM:261600
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Depressed nasal bridge, Wide nasal bridge, Hypotelorism OMIM:615760
Floating-Harbor Syndrome
Celiac disease, Cryptorchidism, Coarctation of aorta, Deeply set eye, Atrial septal defect, Umbil... OMIM:136140
Orofaciodigital Syndrome Type 1
Finger syndactyly, Ataxia, Tarsal synostosis, Tremor, Preaxial hand polydactyly, Short toe, Posta... ORPHA:2750
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Spina bifida, Hypertelor... ORPHA:84
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Hypotelorism OMIM:620156
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Talipes equinovarus, Paralysis OMIM:613710
Renpenning Syndrome
High, narrow palate, Cleft palate, Heterotaxy, Iris coloboma, Decreased testicular size, Anal atr... ORPHA:3242
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hem... ORPHA:306669
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Lowe... ORPHA:2092
Blepharocheilodontic Syndrome 1
Neural tube defect, Choanal atresia, Hypertelorism OMIM:119580
Solitary Bone Cyst
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Bone pain, Abnormal pubic ... ORPHA:83468
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Mi... OMIM:618736
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, High, narrow palate, Cryptorchidism, Cleft palate, Coarctation of aort... OMIM:618494
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Secondary microcephaly, Myoclonus... OMIM:606777
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus,... ORPHA:1571
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Abnormal basal ganglia morphology, Memory impairment, Irritabil... ORPHA:1929
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Jaundice, Ventricular septal defect, Hepatomegaly OMIM:614876
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux, Hepatomegaly OMIM:619881
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertelorism, Hypotelorism, Mitral valve prolapse, Gastroesophageal reflux, High palate, Atrial ... OMIM:300986
Hartsfield Syndrome
Wide nose, Craniosynostosis, Hypertelorism, Alobar holoprosencephaly, Lobar holoprosencephaly, Hy... OMIM:615465
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Talipes calcaneovalgus, Abnormal form of the vertebral b... ORPHA:818
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Prom... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Positional foot deformity, Prom... ORPHA:363958
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Hypertelorism ORPHA:83473
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Glutathionuria
Hypotelorism OMIM:231950
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Spina bifida, Tapered finger, Partial agenesis of the corpus callosum... OMIM:619480
Johanson-Blizzard Syndrome
Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anemia, Abnorma... ORPHA:2315
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Spina bifida, Short... ORPHA:2308
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Familial Congenital Mirror Movements
Cerebral palsy, Clumsiness, Poor fine motor coordination, Fused cervical vertebrae, Agenesis of c... ORPHA:238722
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, Postaxial hand... OMIM:615948
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Vocal cord paralysis, Hand muscle we... OMIM:607641
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... ORPHA:313892
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Scoliosis, ... OMIM:162200
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypertelorism, Cryptorchidism, Aplasia/Hypoplasia of the... ORPHA:96097
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Hypertelorism ORPHA:1919
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Abnormal substantia nigra morphology, Ataxia, Inability to walk, Mental det... ORPHA:2822
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Retinal coloboma... ORPHA:220493
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Craniosynostosis, Brachycephaly, Hypoteloris... OMIM:604757
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Mucolipidosis Iv
Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelination, Microc... OMIM:252650
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Intellectual Developmental Disorder, Autosomal Dominant 21
Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Atri... OMIM:615502
Floating-Harbor Syndrome
Celiac disease, Cryptorchidism, Tetralogy of Fallot, Coarctation of aorta, Deeply set eye, Gastro... ORPHA:2044
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Hypertelorism, High, narrow palate, Cryptorchidism, Abnormal heart morphology, Apla... ORPHA:96092
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypotelorism OMIM:616281
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Furrowed tong... OMIM:616975
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ... OMIM:267010
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, Tethered cord, 2... OMIM:107480
Pde4D Haploinsufficiency Syndrome
Frontal bossing, Depressed nasal bridge, Hypertelorism, Prominent nose, Brachycephaly, Hypotelori... ORPHA:439822
Galloway-Mowat Syndrome
Aqueductal stenosis, Hypertelorism, Hypotelorism ORPHA:2065
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:619769
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Cessation of head growth, Inapprop... ORPHA:411515
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hypertelorism, Hydrocephalus, Microphthalmia, Leukemia OMIM:602501
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Dysphagia, Irritability, Abnormal caudate nucleus morphology, Late... ORPHA:2148
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Patent ductus arteriosus, Cry... OMIM:610443
Developmental Delay, Language Impairment, And Ocular Abnormalities
Tethered cord, Microcephaly, Myelomeningocele, Scoliosis, Apraxia, Contracture of the proximal in... OMIM:620141
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Abnormal lung lobation, Cleft palate, Coarctation of aorta, Acute lymphobla... ORPHA:1052
3C Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, In... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Bulbous nose, Hypotelorism OMIM:614104
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Cryptorchidism, Cleft palate, Hypotelorism, High palate, Gastroesophag... OMIM:617164
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Hypotelorism, Leukemia, Decreased CD4:CD8 ratio OMIM:614038
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, Po... ORPHA:371428
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Hypertelorism, Patent ductus arteriosus, Hypotelorism, Breast aplasia, Tric... ORPHA:276413
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Microtia-Anotia
Holoprosencephaly OMIM:600674
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Prominent superficial veins, Hypotelorism OMIM:616817
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly OMIM:614416
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Equinovarus deformity, Sho... OMIM:224400
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait imbalance, Hypoplasia of the corpus callosum, Gait at... ORPHA:488635
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, ... OMIM:270400
16P11.2P12.2 Microdeletion Syndrome
Frontal bossing, Tricuspid regurgitation, Anteverted nares, Long nose, Bulbous nose, Hypotelorism... ORPHA:261211
Lamb-Shaffer Syndrome
Ataxia, Microcephaly, Optic atrophy, Decreased head circumference, Fused cervical vertebrae, Hip ... ORPHA:530983
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Syringomyelia, High palat... OMIM:616652
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Ritscher-Schinzel Syndrome 4
Hypertelorism, Brachycephaly, Wide nasal bridge, Hypotelorism, Plagiocephaly, Deeply set eye, Pro... OMIM:619435
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... ORPHA:2876
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Cholel... OMIM:240300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Non-Distal Duplication 13Q
Trigonocephaly, Short nose, Hypotelorism ORPHA:1702
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Hypotelorism, Neutropenia, Microphthalmi... OMIM:616395
Poland Syndrome
Dextrocardia OMIM:173800
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Trisomy 18P
Midface retrusion, Underdeveloped nasal alae, Wide nasal bridge, Hypotelorism ORPHA:1715
Microtia
Holoprosencephaly ORPHA:83463
Vici Syndrome
Recurrent respiratory infections, Hypertelorism, Hypotelorism, Cardiomyopathy, High palate ORPHA:1493
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
8p23.1 deletion syndrome
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Supernumerary nipple, Hypertelorism, Cryptorchidism, Patent ductus art... OMIM:618454
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Cutaneous finge... OMIM:151050
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inability to walk, Unsteady ... ORPHA:228360
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Isolated Posterior Meningocele
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Parapleg... ORPHA:268810
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... OMIM:600987
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:606003
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Trichothiodystrophy 8, Nonphotosensitive
Prominent nose, Hypotelorism OMIM:619691
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Microcephaly... ORPHA:2311
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Difficulty walking, Spastic gait, Hypoplasia of the corpus callosum ORPHA:401815
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... OMIM:607323
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Spinal cord compression, Microcephaly, Hyperlordosis, Kyphosis, Fused cervical verteb... ORPHA:2522
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Limb ataxia, Degeneration of anterior horn ... OMIM:607596
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... OMIM:618624
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Patent ductus arteriosus, Cleft palate, Hypotelorism, Atrial se... OMIM:300968
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
1-2 toe syndactyly, Broad hallux, Talipes, Tapered finger, Microcephaly, Spastic tetraparesis, Sm... OMIM:301044
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Delayed skel... ORPHA:95494
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Abnormal hip joint morphology, Broad hallux, Talipes, Ovoid vertebral bod... ORPHA:1856
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... OMIM:192350
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Hypertelorism, Cryptorchidism, Abnormal aortic arc... ORPHA:2059
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... OMIM:225500
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Syringomyelia, Scoliosis, Butterfly v... OMIM:122600
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... OMIM:188400
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Arthrogryposis, Distal, Type 1A
Stiff shoulders, Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse ... OMIM:108120
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Progressive language deterioratio... OMIM:610042
Vici Syndrome
Recurrent respiratory infections, Lymphopenia, Hypertelorism, Dilated cardiomyopathy, Neutropenia... OMIM:242840
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope... ORPHA:1667
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect, Cryptorchidism ORPHA:1918
Cach Syndrome
Progressive neurologic deterioration, Microcephaly, Cerebral atrophy, Dysmetria, Limb ataxia, Irr... ORPHA:135
Rubinstein-Taybi Syndrome 1
Bilateral cryptorchidism, High, narrow palate, Aortic isthmus hypoplasia, Deeply set eye, Colobom... OMIM:180849
Ring Chromosome 7 Syndrome
Single transverse palmar crease, Microcephaly, Small hand, Genu valgum, Short 5th finger, Holopro... ORPHA:1449
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Hemivertebrae, Radiou... OMIM:212780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Cryptorchidism, Cleft palate, Abnormal aortic morphology, Tetralogy of... ORPHA:1166
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Inability to walk, Cerebral atroph... ORPHA:500180
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn... ORPHA:2847
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... OMIM:277590
Dietary Iron Overload Disease
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Micronodular cirrhosis, Esophageal carcinoma, A... ORPHA:139507
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Holoprosencephaly 9
Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Postaxial hand p... OMIM:610829
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Distal Triplication 15Q
Hypertelorism, Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Abnormal heart m... ORPHA:314588
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Narrow nasal bridge, Frontal bossing, Hypotelorism ORPHA:3082
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagia, Hypertrop... OMIM:616276
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Unsteady gait, Depression, Abnormal cerebral wh... ORPHA:485350
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis,... OMIM:616589
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Microcephaly, Absent radius, Preaxial hand polydactyly, Short ne... ORPHA:233
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Frontonasal Dysplasia 1
Hypertelorism, Anterior basal encephalocele, Coloboma, Cranium bifidum occultum, Microphthalmia, ... OMIM:136760
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... OMIM:105500
Perlman Syndrome
Hepatomegaly, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Deeply set eye ORPHA:2849
Feingold Syndrome Type 2
Jejunal atresia, Ventricular septal defect ORPHA:391646
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Deeply set eye, Gastroesophageal reflux, Pulmoni... OMIM:619149
Diets-Jongmans Syndrome
Ventricular septal defect, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygou... OMIM:618846
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus... OMIM:614576
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... ORPHA:93360
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Degcags Syndrome
Oral-pharyngeal dysphagia, Hypotelorism, Leukopenia, Iron deficiency anemia, High palate, Gastroe... OMIM:619488
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia, Hypertelorism ORPHA:3033
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Prune Belly Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Cryptorchidi... ORPHA:2970
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Lower limb spasticity, Involuntary movements, Microcephaly, Decreased nerve co... ORPHA:565624
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, V... ORPHA:90308
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Short nose, Hypotelorism ORPHA:391408
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of... ORPHA:239
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Narrow nasal ridge, Hypertelorism, Aqueductal stenosis, Hydrocephalus, Bulbous n... OMIM:619512
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Abnormal cerebral white matter morphology, Lateral v... OMIM:613443
Smith-Mccort Dysplasia 2
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br... OMIM:615222
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Pes cavus, Scoliosis ORPHA:640
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Normochromic anemi... OMIM:614857
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Patent... ORPHA:284169
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ... OMIM:617798
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Hypertelorism, Cryptorchidism, Paten... ORPHA:163956
Nemaline Myopathy 9
High palate, Ventricular septal defect, Cleft palate OMIM:615731
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertelorism, Cryptorchidism, Abnormal heart morphology, Proptosis, Atrial septal defect, Umbili... ORPHA:352490
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia ORPHA:49827
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hypertelorism OMIM:618499
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation ORPHA:101071
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Short foot, Cone-shaped epiphysis, ... OMIM:157800
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Hypotelorism, Shallow... ORPHA:440713
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the... ORPHA:500144
Noonan Syndrome 8
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Pleural effus... OMIM:615355
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,... OMIM:273395
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ... OMIM:269200
Congenital Myopathy 11
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral ... OMIM:276950
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Patent ductus arteriosus, High... OMIM:618142
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Short ... OMIM:609053
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Proteus Syndrome
Spinal cord compression, Splenomegaly, Lymphangioma, Venous malformation OMIM:176920
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Patent foramen ovale, Hypoplastic t... OMIM:600001
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... ORPHA:1913
Baller-Gerold Syndrome
Malabsorption, Hypertelorism, Cleft palate, Hypotelorism, Anteriorly placed anus, Abnormal cardia... ORPHA:1225
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hypertonia, Hyperlor... OMIM:226980
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Tethered cord, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalv... OMIM:618164
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... ORPHA:87
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Depressed nasal bridge, Hypotelorism OMIM:618622
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Periventricular cysts, Abnormal form of the vertebral bodies, Ca... OMIM:194190
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Anterior... ORPHA:177907
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Hypertelorism, Abnormality of the nose, Underdeveloped nas... ORPHA:2710
Emanuel Syndrome
Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Intestinal malro... OMIM:609029
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Postaxia... ORPHA:2473
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate, Deeply set eye, Atrial septal defect, Microphthalmia ORPHA:261272
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Charge Syndrome
Talipes, Facial palsy, Microcephaly, Aqueductal stenosis, Aplasia/Hypoplasia of the cerebellum, A... ORPHA:138
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia, Hypotelorism OMIM:244200
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Anterior pituitary hypoplasia, Opti... OMIM:206900
Seckel Syndrome 7
Prominent nose, Hypotelorism OMIM:614851
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hypertelorism, Cryptorchidism, Patent ductus ar... ORPHA:329224
Braddock Syndrome
Pulmonary arterial hypertension, Hypotelorism ORPHA:52047
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Right ve... OMIM:619472
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... OMIM:212093
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Osteolysis, Abnormal mot... ORPHA:52430
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Encephalomalacia, Short clavicles, B... ORPHA:60015
Thanatophoric Dysplasia
Hydrocephalus, Patent ductus arteriosus, Proptosis, Pulmonary hypoplasia, Atrial septal defect ORPHA:2655
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:300991
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Hypertelorism, Cryptorchidism, Cleft p... OMIM:616145
Microphthalmia, Syndromic 2
Anophthalmia, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular system, I... OMIM:300166
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Aplastic clavicle, Kyphosis, Delayed skeletal maturation, Coronal craniosynost... ORPHA:85199
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Microcephaly, Hydrocephal... OMIM:300558
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Stereotypical hand wringing, Progressive language det... ORPHA:163681
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Pelvis-Shoulder Dysplasia
Back pain, Hypoplastic scapulae, Congenital hip dislocation, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced oss... OMIM:269250
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance, Hypoplasia of the cor... OMIM:618090
Lambert Syndrome
Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia ORPHA:1296
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Hypertelorism, Leukocytosis, Hematochezia, Congenital pu... OMIM:243150
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Lig4 Syndrome
Prominent nose, Wide nasal bridge, Brachycephaly, Telangiectasia, Hypotelorism OMIM:606593
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Microcephaly, Calcaneovalg... ORPHA:3078
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, Pancreatic hypoplas... ORPHA:2255
Thrombocytopenia 6
Deeply set eye, Spontaneous, recurrent epistaxis, Hypotelorism OMIM:616937
Chromosome 15Q11.2 Deletion Syndrome
Hypotelorism, Hypertelorism, Cleft palate, Abnormal heart morphology OMIM:615656
White Forelock With Malformations
Atrial septal defect, Spina bifida occulta, Hypertelorism ORPHA:2475
Neurooculorenal Syndrome
Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Aqueductal stenosis, Cryptorch... OMIM:620305
X-Linked Intellectual Disability, Hedera Type
Pes planus, Apraxia, Extrapyramidal muscular rigidity, Calcaneovalgus deformity, Slurred speech, ... ORPHA:93952
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hypertelorism, Hydrocephalus, Meningocele, Cleft palate... OMIM:614424
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Pes planus, Thoracic scoliosis, Short neck, Osteoarthritis, Generalize... OMIM:618000
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal form of t... ORPHA:1788
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Giant Cell Arteritis
Glossitis, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Mediastinal lymphaden... ORPHA:397
Frank-Ter Haar Syndrome
Ventricular septal defect, Abnormally large globe, Secundum atrial septal defect, Hypertelorism, ... OMIM:249420
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Broad nasal tip, Depressed nasal bridge, Hypotelorism OMIM:619680
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Tetrasomy 9P
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Hypertelori... ORPHA:3310
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial mor... OMIM:617050
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... OMIM:616898
Atelis Syndrome 1
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Atrial sept... OMIM:620184
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:615286
Trichothiodystrophy
Ventricular septal defect, Hypertelorism, Recurrent bronchopulmonary infections, High, narrow pal... ORPHA:33364
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Frontal bossing, Prominent nose, Long nose, Hypotelorism, Deeply set eye OMIM:300486
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Orthostatic hypoten... OMIM:304150
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Aggressive behavior,... ORPHA:488627
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial m... OMIM:205100
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Ventricular septal defect, Cleft palate, Hypertelorism ORPHA:94066
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Hydrocephalus,... ORPHA:2461
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Secondary microc... OMIM:620242
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Esophageal atresia, Patent duc... OMIM:300514
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Stevenson-Carey Syndrome
Coloboma, Gastroesophageal reflux, Left superior vena cava draining to coronary sinus, Atrial sep... OMIM:611961
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Talipes calcaneovalgus, Knee flexio... OMIM:265000
Schuurs-Hoeijmakers Syndrome
Bicuspid aortic valve, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac ... OMIM:615009
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, H... ORPHA:96334
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Microcephaly, Aggressive behavior, Cortical dysplasia, Hypoplasi... ORPHA:457260
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hypertelorism, Hydrocephalus, Patent ductus arteriosus, High palate, Atrial septal defect, Annula... OMIM:618162
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Microcephaly OMIM:617182
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Hydranencephaly
Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of the ventricula... ORPHA:2177
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, High, narrow palate, Abnormal lung lobation, Cleft palate, Abnormal ao... ORPHA:2516
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone p... ORPHA:666
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Aqueductal stenosis, Humeroradial syno... OMIM:251230
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Reduced cerebral white matter volume, Microcephaly, Talipes equinovarus, Camptodactyly, Cervical ... OMIM:617333
Tyshchenko Syndrome
Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala... OMIM:615102
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the corpus callosu... ORPHA:79243
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Microcephaly, Ulnar bowi... OMIM:201750
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydac... ORPHA:672
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Temple-Baraitser Syndrome
Atrial septal defect, Gastroesophageal reflux, Pulmonic stenosis, Hypertelorism OMIM:611816
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hypotelorism, Recurrent respiratory infections, High palate, Hepatomegaly ORPHA:329178
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine... OMIM:620133
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inability to walk, Cerebral ... ORPHA:168491
Abruzzo-Erickson Syndrome
Cryptorchidism, Cleft palate, Coloboma, Chorioretinal coloboma, Atrial septal defect, Iris coloboma ORPHA:921
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Hypertelorism, Cryptorchidism, Cholestasis, Reduced numb... ORPHA:52
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Atrial septal defect, Frontal encephalocele, Hypertelorism ORPHA:521308
Schilbach-Rott Syndrome
Long nose, Prominent nose, Hypotelorism OMIM:164220
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Microcephaly, Flexion contracture, Cervical C2/C3 vertebral ... OMIM:616549
Septopreoptic Holoprosencephaly
Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogyria, Abnormal septum... ORPHA:280195
Intellectual Developmental Disorder, Autosomal Recessive 79
Deeply set eye, Ventricular septal defect OMIM:620393
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hypertelorism, Hydrocephalus, Patent ductus arteriosus, High palate, A... OMIM:612582
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Curry-Jones Syndrome
Bicoronal synostosis, Wormian bones, Occipital meningocele, Duplication of thumb phalanx, Megalen... OMIM:601707
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Premature Aging Syndrome, Penttinen Type
Frontal bossing, Aplasia of the nasal bone, Prominent nasal bridge, Convex nasal ridge, Hypertelo... OMIM:601812
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypertelorism, Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis,... OMIM:614300
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Heart And Brain Malformation Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Gastroesophageal reflux, Interrupt... OMIM:616920
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Gastroesophageal reflux, Hypertelorism ORPHA:466926
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Hypertelorism, Cryptorchidism, ... OMIM:219000
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Splenomegaly, Pulmonary hypo... OMIM:615636
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Cleft palate, Hypertelorism ORPHA:398156
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypertelorism, Abnormal cardiac ventricle morphology, Hypoplast... ORPHA:261311
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Macroglossia, Atrial septal d... OMIM:615668
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphth... ORPHA:899
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent nasal bridge, Hypotelorism, Plagiocephaly, Proptosis, Dolichocephaly, Midface retrusion ORPHA:2215
Acute Peripheral Arterial Occlusion
Limb pain, Lower limb pain, Paralysis ORPHA:90064
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... OMIM:619737
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Hypertelorism, Cryptorchidism, Macroglossia, Coloboma, Transposition of the great arteries, Paten... OMIM:616789
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Dilated cardiomyopathy, Hypotelorism, Deeply set eye, Lymphopenia, Anemia OMIM:616541
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... OMIM:607155
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Megalencephaly
Atrial septal defect, Deeply set eye, Macroorchidism ORPHA:2477
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis OMIM:617092
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly OMIM:618266
Cerebrooculonasal Syndrome
Anophthalmia, High palate, Hypertelorism ORPHA:66625
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Cleft hard palate, Asplenia, Deeply set eye, Abnormality of the pulmonary ... ORPHA:261537
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypotelorism OMIM:602418
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Cerebral atrophy, Dysm... OMIM:610217
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Inability to walk, Partial agenesis of the corpus callosum,... ORPHA:300570
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Hypertelorism, Cryptorchidism, Velopharyngeal insufficiency, Re... OMIM:619314
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Deeply set eye, High palate, ... OMIM:620070
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Lateral ventri... ORPHA:77299
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Ventricular septal defect, Hypertelorism, Pulmonary artery stenosis, Cleft palate, ... OMIM:280000
Alagille Syndrome 2
Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... OMIM:610205
Mowat-Wilson Syndrome
Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Deeply set eye,... ORPHA:2152
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Microcephaly, Abnormal toe morphology, Abnormal carpal morpholog... OMIM:216100
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Hypertelorism OMIM:263630
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis OMIM:615451
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis OMIM:614874
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Normocytic anemia, Splenomegaly, Cholestasis, Hypotelorism, Leuko... OMIM:300972
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Hypertelorism, Cryptorchidi... OMIM:300963
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Microcephaly, Kyphosis, Hip dislocation, Aplasia/Hypoplasia of ... ORPHA:96169
Acromelic Frontonasal Dysplasia
Encephalocele, Hypertelorism, Broad nasal tip, Bifid nasal tip, Meningocele, Brachycephaly, Bifid... ORPHA:1827
Japanese Encephalitis
Decreased motor nerve conduction velocity, Stiff neck, Genu recurvatum, Tremor, Opisthotonus, Cho... ORPHA:79139
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Cryptorchidism OMIM:218350
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... OMIM:613001
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae, Microcephaly OMIM:619227
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Hypotelorism, High... ORPHA:536545
Emanuel Syndrome
Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, ... ORPHA:96170
Saethre-Chotzen Syndrome
Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypertelorism, Brachycephaly, H... ORPHA:794
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Coarctation o... OMIM:617159
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Colpocephaly, Hypoplasia ... OMIM:616034
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vas... ORPHA:2331
Coffin-Siris Syndrome 12
Frontal bossing, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Hypertelorism,... OMIM:619325
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Scissor gait, Bradykinesia, Lateral ventricle dilatation, Dilated third... ORPHA:363654
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Tetralogy of Fallot, Anal atresia, Aplasia/Hypoplasia of the lens ORPHA:1381
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus, Retinal coloboma, Mi... ORPHA:2328
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callos... ORPHA:2524
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Hypertelorism, Cleft palat... OMIM:618021
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation... OMIM:619517
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, H... ORPHA:1842
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Cleft hard palate, Asplenia, Deeply set eye, Abnormality of the pulmonary ... ORPHA:261552
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Microcephaly, Periodic paralysi... OMIM:170390
Pontocerebellar Hypoplasia, Type 17
Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Patent ductus arteriosus... OMIM:619909
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
8Q12 Microduplication Syndrome
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect ORPHA:228399
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Intrahepatic ... OMIM:614815
Acrocardiofacial Syndrome
Ventricular septal defect, Mitral stenosis, Hypertelorism, Cryptorchidism, Cleft palate, Coarctat... ORPHA:2008
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Deeply set eye, Abnormal cardiac septum ... ORPHA:250989
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... ORPHA:33276
Kapur-Toriello Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Clef... OMIM:244300
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Short neck, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contrac... OMIM:616266
Carpenter Syndrome 1
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Tetralogy of Fallot, High pa... OMIM:201000
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Cryptorchidism, Deeply set eye, High palate, Tetralogy of Fallot ORPHA:3306
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Tatton-Brown-Rahman Syndrome
Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defe... ORPHA:404443
Fg Syndrome Type 1
Optic nerve hypoplasia, Abnormal large intestine morphology, Hypertelorism, Malrotation of colon,... ORPHA:93932
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Hypertelorism, Muscular ventricular septal defect, Patent ductus arteriosu... OMIM:612474
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect OMIM:613870
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Cessatio... ORPHA:98794
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Noonan Syndrome 9
Ventricular septal defect, Hypertelorism, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:139471
Carpenter Syndrome 2
Dextrocardia, Supernumerary nipple, Hypertelorism, Situs inversus totalis, High, narrow palate, P... OMIM:614976
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Deeply set eye, Atrial septal defect, Microphthalmia OMIM:614526
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... OMIM:601680
Restrictive Dermopathy
Dextrocardia, Hypertelorism, Aplasia/Hypoplastia of the eccrine sweat glands, Large placenta, Pat... ORPHA:1662
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Inability to walk, Lateral ventricle dilatation, Bruxism, Thin corpus callosum OMIM:615716
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Hypertelorism, Double outlet right ventricle with doubly c... ORPHA:1596
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Atrial septal defect ORPHA:52056
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Patent foramen ovale, Pulmonary hypoplasia, Dysphagia OMIM:616867
Retinal Dystrophy With Leukodystrophy
Hypotelorism OMIM:618863
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Ventricular septal defect, Hypertelorism, Cryptorchidism, High ... OMIM:618950
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Harrod Syndrome
Long nose, Hypotelorism ORPHA:2115
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Hypertelorism, Pancreatic lymp... OMIM:235255
Aicardi Syndrome
Block vertebrae, Microcephaly, Hemiplegia/hemiparesis, Partial agenesis of the corpus callosum, O... ORPHA:50
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypertelorism, High palate, Gastroesophageal reflux, Atrial septal def... OMIM:610883
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Hypertelorism, Crypt... OMIM:605275
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Hepatic fibrosis OMIM:615630
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Hypertelorism, Proptosis, Umbilical hernia, Ir... ORPHA:2143
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Cryptorchidism, Coarc... OMIM:617602
Houge-Janssens Syndrome 3
Hypertelorism, Muscular ventricular septal defect, Proptosis, High palate, Atrial septal defect, ... OMIM:618354
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Accelerated skeletal maturation, Hydrocephalus, Neonatal epiphys... OMIM:101800
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Pes planus, Overlapping toe, Sacral di... OMIM:213980
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Short neck, Ab... ORPHA:2879
Kbg Syndrome
Syndactyly, Vertebral fusion, Single transverse palmar crease, Microcephaly, Short neck, Delayed ... OMIM:148050
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Esophageal varix, ... OMIM:616028
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Spherocy... ORPHA:251066
20P12.3 Microdeletion Syndrome
Atrial septal defect, Hypertelorism ORPHA:261295
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism, Patent ductus ar... ORPHA:452
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Depressed nasal ridge, Absent nasal septal cartilage ORPHA:2003
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Abnormal pulmonary i... OMIM:613658
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Tetralo... OMIM:601005
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, In... ORPHA:353281
Galloway-Mowat Syndrome 9
Hypotelorism, Hypertelorism, Gastroesophageal reflux, Hiatus hernia OMIM:619603
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Hypertelo... OMIM:609192
Shashi-Pena Syndrome
Short metacarpal, Reduced cerebral white matter volume, Accelerated skeletal maturation, Kyphosis... OMIM:617190
Mirage Syndrome
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Esophageal stricture, Hypoplastic spleen... OMIM:617053
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ventricular septal defect, Cryptorchidism OMIM:613730
Thakker-Donnai Syndrome
Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis... ORPHA:1780
8P23.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy,... ORPHA:251071
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Duodenal ulc... OMIM:135900
Acrootoocular Syndrome
Wide nasal base, Hypotelorism ORPHA:2980
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusio... OMIM:118100
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Abnormal mesentery morphology, Ventricular septal defect, Hypertelorism ORPHA:2256
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Microcephaly, Aggressive behavior, Hydrocephalus, Irritability, Colpocephaly, Self-injuri... OMIM:619833
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Abnormally large globe, Hypertelorism, Pancreatic lympha... ORPHA:1655
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, High palate, Atrioventricular canal defect, Aplasia... ORPHA:40366
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Delayed skeletal maturation, Hoff... OMIM:601162
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Hypertelorism, Hydrocele testis, Aortic root aneurysm, Pulmonary hypop... OMIM:145420
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Accelerated skeletal maturation, Short neck, Vertebral segmentation d... ORPHA:373
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Recur... ORPHA:500159
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Multifocal cerebral white matter abnormalities, Hem... ORPHA:140989
De Barsy Syndrome
Recurrent sinopulmonary infections, Ventricular septal defect, Hypertelorism, Cryptorchidism, Pat... ORPHA:2962
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect, Hypertelorism ORPHA:93267
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Hypertelorism ORPHA:2772
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Pes cavus, Abnormal motor neuron morphology DECIPHER:29
Snijders Blok-Campeau Syndrome
Hypertelorism, Perimembranous ventricular septal defect, High palate, Pulmonic stenosis, Atrial s... OMIM:618205
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Neutropenia, He... OMIM:612541
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Myhre Syndrome
Vertebral fusion, Overlapping toe, Ataxia, Joint stiffness, Hypoplastic iliac wing, Microcephaly,... OMIM:139210
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
3P25.3 Microdeletion Syndrome
Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Pyloric stenosis, Cleft... ORPHA:435638
Three M Syndrome 3
Microcephaly, Short neck, Increased vertebral height, Hyperlordosis, Slender long bone, Hip dyspl... OMIM:614205
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arterios... OMIM:616564
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hypertelorism, Hyposegmentation of neutrop... OMIM:169400
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Trisomy 8P
Abnormal atrioventricular connection, Hypertelorism, Cryptorchidism, Hydrocephalus, Recurrent upp... ORPHA:264450
Chops Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Patent ductus arteriosus, Cryptorc... OMIM:616368
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Ventricular septal defect, Deeply set eye, Abnormally large globe OMIM:618504
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Velopharyngeal insufficiency, Abnor... ORPHA:363444
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Mirror Movements 3
Situs inversus totalis OMIM:616059
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve OMIM:617744
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, High palate, Deeply set eye, Hypotelorism OMIM:602471
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Abnormal spinal cord morphology, Spinal canal... ORPHA:1724
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Hypotelorism, ... OMIM:619503
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615504
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hypertelorism, Hydrocephalus, Abnormal heart morphology, Mitral valve ... ORPHA:363700
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615505
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Gastroesophageal reflux, Dysphagia, Bronchi... OMIM:230900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Ventricular septal defect, Bicuspid aortic valve, Colo... ORPHA:453499
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Irritability, Colpocephaly, Secondary microcephaly, Choking... OMIM:620352
Burn-Mckeown Syndrome
Ventricular septal defect, Hypertelorism, Cleft palate, Atrial septal defect, Bifid uvula OMIM:608572
Enthesitis-Related Juvenile Idiopathic Arthritis
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... ORPHA:85438
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... ORPHA:163979
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Hypertelorism, Cryptorchidism, Bilateral microphthalmos, Abnormal hear... ORPHA:369891
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hypertelorism, Cleft palate, Atrial septal defect, Patent foramen oval... OMIM:614261
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Increased axial length of the globe, Cleft palate, Pineal cyst, Right ... ORPHA:513456
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Microcephaly, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injuri... OMIM:620023
Thanatophoric Dysplasia Type 1
Hydrocephalus, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Proptosis, Atrial septa... ORPHA:1860
Bohring-Opitz Syndrome
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... OMIM:605039
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post... ORPHA:75389
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Abnormality of globe size, High palate, Increased circulating prolactin concentration, Hypotelorism ORPHA:502423
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Patent ductus arteriosus, Hypotelorism, Mitral regurgitation, Umbilical ... OMIM:614557
Methimazole Embryofetopathy
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctation of aorta, A... ORPHA:1923
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Optic Atrophy 11
Hyperactivity, Ataxia, Microcephaly, Gait apraxia, Dysmetria, Leukoencephalopathy, Athetosis, Ste... OMIM:617302
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Hypertelorism, Atrial septal defect, Umbilical... OMIM:615879
Caudal Regression Syndrome
Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, Hypoplastic ve... ORPHA:3027
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Patent ductus arteriosus, Submuco... OMIM:612863
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Patent ductus arteriosus, Optic disc coloboma, Aglossia OMIM:241310
Al-Raqad Syndrome
Atrial septal defect, Deeply set eye OMIM:616459
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula, Coarctation o... ORPHA:268249
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Optic nerve hypoplasia, Hypertelorism, Cryptorchidism, Patent ductus a... OMIM:617506
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Cryptorchidism ORPHA:90322
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Hypertelorism, Secundum atrial septal defect, Patent ductus arteriosus, Cardiomyopathy, High pala... OMIM:616866
Recombinant 8 Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Pulmonary artery stenosis, Patent ductu... ORPHA:96167
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Patent foramen ovale, Coronary-pulmonary artery fistula, Hypertelorism OMIM:619699
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Cleft palate, High palate, At... OMIM:220500
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Hyperlysinemia
Recurrent pneumonia, Hypotelorism, Pulmonary artery hypoplasia, Gastroesophageal reflux, High pal... ORPHA:2203
Periventricular Nodular Heterotopia 7
Ventricular septal defect, Hypertelorism, Cryptorchidism, Cleft palate, Deeply set eye, Proptosis OMIM:617201
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Hydroceph... OMIM:612938
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... ORPHA:3282
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, Self-injurious behav... ORPHA:208447
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, High palate, Umbilical hernia, Pa... OMIM:251290
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, High, narrow palate, Cryptorchidism, Tricuspid valve prolapse, Aniridia, Umbilical ... ORPHA:1101
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Aganglionic megacolon, Hypertelorism, Cleft ... OMIM:614749
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Cleft palate, Anteriorly placed anus,... OMIM:309801
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Supernumerary nipple, Hypertelorism, Secundum atrial septal def... OMIM:619951
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Large ... ORPHA:1708
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Decr... OMIM:601808
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, ... OMIM:617516
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Patent duc... OMIM:617303
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Patent foramen ovale, Iris coloboma, Hypertelorism ORPHA:88630
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypertelorism, Vascular dilatation, Atelectasis, Rectal prolapse, Recurrent pne... OMIM:613177
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Cryptorchidism, Dilated cardiomyo... OMIM:610198
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Filippi Syndrome
Cryptorchidism, Proptosis, Ventricular septal defect OMIM:272440
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Patent ductus arteriosus, Hydro... OMIM:164210
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Hypertelorism, High, narrow palate, Patent ductus... ORPHA:79076
Axenfeld-Rieger Syndrome, Type 3
Hypertelorism, Patent ductus arteriosus, Hypoplasia of the iris, Proptosis, Atrial septal defect OMIM:602482
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
15Q14 Microdeletion Syndrome
Atrial septal defect, Deeply set eye, Ventricular septal defect, Cleft palate ORPHA:261190
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, Opt... ORPHA:1790
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arterio... ORPHA:2745
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Anteriorly placed anus, Microphthalmia ORPHA:2717
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... ORPHA:43
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Anteverted nares, Hypotelorism OMIM:619743
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, High palate ORPHA:1035
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a... OMIM:603467
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent respiratory infections, Pneumonia, Hypertelorism, Secundum atria... OMIM:264090
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect OMIM:620094
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615500
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Deeply set eye, Gastroesophageal... OMIM:617635
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies... OMIM:102500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, High palate, Transposition of the great arteries, Pulmo... OMIM:617877
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hypertelorism, Hydrocephalus, Cleft palate, Atrial septal defect, Aortic valve stenosis ORPHA:459061
Orofaciodigital Syndrome V
Recurrent respiratory infections, Ventricular septal defect, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypertelorism, Erythroid hypoplasia, Reticulocytope... OMIM:612528
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hepatomegaly, Hypertelorism, High palate, Atrial septal defect,... OMIM:619383
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis OMIM:614198
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Cervical cord compression,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Cervical cord compression,... ORPHA:353277
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Even-Plus Syndrome
Atrial septal defect, High palate, Patent foramen ovale, Anal atresia OMIM:616854
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... ORPHA:544488
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Cryptorchidism, Deeply set eye, Anemia ORPHA:90321
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Cryptorchidism, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis OMIM:614017
Myopathy With Extrapyramidal Signs
Hepatomegaly, Ventricular septal defect, Hypertelorism, Splenomegaly, Leukocytosis OMIM:615673
Sotos Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Muscular ventricular septal defect... OMIM:117550
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Microcephaly, Lateral ventricle dilatation, Hypoplasia o... OMIM:617751
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, High palate,... OMIM:618282
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale, Hypertelorism OMIM:620075
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, High palate, Dysphagia, Atria... OMIM:617061
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, Hepatomegaly, Bicuspid aortic valve, Malformation of the hepati... OMIM:218330
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Hyperte... OMIM:222470
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Atrial septal defect, Hypertelorism OMIM:611087
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Recurrent pneumonia, Cleft palate,... ORPHA:464738
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... OMIM:100300
Feingold Syndrome
Esophageal atresia, Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas, Duoden... ORPHA:1305
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypertelorism, Recurrent pneumonia, Cleft palate, Furrowed tongue, Hig... OMIM:616449
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Williams-Beuren Syndrome
Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retin... OMIM:194050
Variegate Porphyria
Paralysis OMIM:176200
Lateral Meningocele Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Cryptorchidism, Meningocele, Dural... ORPHA:2789
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri... OMIM:612562
Noonan Syndrome 7
Hypertelorism, Impaired oropharyngeal swallow response, Pulmonic stenosis, Dysphagia, Atrial sept... OMIM:613706
Culler-Jones Syndrome
Midface retrusion, Hypotelorism OMIM:615849
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect OMIM:113301
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... OMIM:617300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Rhizomelic Limb Shortening With Dysmorphic Features
Proptosis, Patent foramen ovale OMIM:618821
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Beaulieu-Boycott-Innes Syndrome
Deeply set eye, Patent ductus arteriosus, Ventricular septal defect, Velopharyngeal insufficiency OMIM:613680
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Aggressive behavior, Simplified gyral pattern, Cerebral at... OMIM:619244
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Citrullinemia Type Ii
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Irritabili... ORPHA:247585
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Cleft palate, Proptosis, Atrial septal ... ORPHA:254346
Cardioacrofacial Dysplasia 2
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus,... OMIM:619143
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac sept... ORPHA:2556
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Macular hypoplasia, Chorioretinal coloboma, Atrial se... OMIM:615219
Loeys-Dietz Syndrome 5
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... OMIM:615582
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosus, Clef... ORPHA:457193
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Hydrocephalu... ORPHA:2969
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Anteriorly placed anus, Microphthalmia OMIM:248450
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Secundum atrial septal defect, Recurrent upper respiratory tract inf... OMIM:614868
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Microcephaly, Split hand, Split foot, Hand polydactyly, Semilobar holoprosencephaly OMIM:129900
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Abnormal lung lobation, Deeply set eye, Gastroesopha... ORPHA:508488
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal pigmentation, Jau... OMIM:208085
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala... OMIM:617022
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion, Gastroesophageal reflux, Chylot... OMIM:616843
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect OMIM:243440
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Hypertelorism ORPHA:85194
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Hypertelorism, Deeply set eye, Gastroeso... OMIM:619720
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Hypertelorism, Cryptorchidism, Paten... OMIM:609942
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Syringomyelia, Atrial septal defect, Iris colobo... ORPHA:436003
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Abnormal lung morphology, Splenomega... ORPHA:464329
Codas Syndrome
Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip dislocation, Proximal plac... OMIM:600373
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... ORPHA:60041
Microcephalic Primordial Dwarfism, Dauber Type
Prominent nose, Hypotelorism ORPHA:319675
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... ORPHA:284417
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... OMIM:618775
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple, Hypertelorism ORPHA:46627
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Chylothorax, Leukemia, Atrial septal defect, Microphthalmia, Pleural effusion ORPHA:2526
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Gastroesophageal reflux, Ch... ORPHA:494344
King-Denborough Syndrome
Ventricular septal defect, Hypertelorism, Bilateral cryptorchidism, Cryptorchidism, High palate OMIM:619542
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Scalp-Ear-Nipple Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Congestive heart failure, Calvarial sk... OMIM:181270
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Branchial fistula, Ventricular septal defect, High, narrow pala... ORPHA:261330
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Ventricular septal defect, Deeply set eye, High palate, Atrial septal defect, Pat... OMIM:270450
Tarp Syndrome
Meckel diverticulum, Hypertelorism, Subdural hemorrhage, Cleft palate, Tongue nodules, Glossoptos... OMIM:311900
Noonan Syndrome 4
Ventricular septal defect, Hypertelorism, Cryptorchidism, Pulmonic stenosis, Atrial septal defect... OMIM:610733
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypertelorism, Cryptorchidism, Absent pulmonary artery, Patent ductus ... OMIM:600460
Kleefstra Syndrome Due To 9Q34 Microdeletion
Protruding tongue, Hypertelorism, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Macro... ORPHA:96147
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Kyphoscoliosis, Delayed skeletal maturation, Talipes equinovarus... OMIM:608545
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Ataxia, Dysplastic corpus callosum, Inability to... ORPHA:357058
Desbuquois Syndrome
Proptosis, Ventricular septal defect ORPHA:1425
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... OMIM:619418
Noonan Syndrome 5
Hypertelorism, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:611553
Coffin-Siris Syndrome 6
Atrial septal defect, High, narrow palate, Gastroesophageal reflux, Cleft palate OMIM:617808
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... ORPHA:227982
You-Hoover-Fong Syndrome
Coarctation of aorta, Cleft palate, Double aortic arch, Vascular ring OMIM:616954
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... OMIM:276820
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, B... ORPHA:227990
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... OMIM:609945
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Craniosynostosis, Hypertelorism, Broad nasal tip, Bulbous nose, Brachycep... OMIM:309590
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Hypertelorism, Hydrocephalus, Cleft ... OMIM:245600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Hypertelorism, Gastroesophageal reflux, Atrial septal defect, Spina bi... OMIM:617360
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Hypertelorism, Patent foramen ovale, Mitral valve prolapse OMIM:615539
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus, Hepatosplenomegaly, Macroglossia, High palate, Atrial septal defect ORPHA:397709
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Microcephaly, Lumbar scoliosis, Macrocephaly, Cervical C2... OMIM:617796
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Tarp Syndrome
Extramedullary hematopoiesis, Hypertelorism, Cryptorchidism, Cleft palate, Tongue nodules, Glosso... ORPHA:2886
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Hydrocephalus, Patent ductus arteriosus, Abno... ORPHA:505248
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypertelorism, Hypoplasia of the small inte... OMIM:200995
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Ataxia, Lateral ventricle dilatation, T... OMIM:608629
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hypotelorism, Short nose, Mi... OMIM:619426
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Ventricular septal defect, Optic disc coloboma OMIM:613398
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Microcephaly OMIM:620001
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Patent ductus arteriosus, Narrow p... OMIM:158170
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Deeply set eye, High pala... ORPHA:293939
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Hypertelorism, Patent ductus arteriosus after birth at term, Ga... ORPHA:251061
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:614935
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Inability to walk, Gait ataxia, Lateral ventricle dilatation, Hypoplasia of the cor... OMIM:618606
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Ogden Syndrome
Ventricular septal defect, High, narrow palate, Pulmonary artery stenosis, Cryptorchidism, Proptosis ORPHA:276432
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Secundum atrial septal defect, Deeply set eye, High palate, Chorioretinal coloboma, Recurrent low... OMIM:620194
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Esophageal atresia, Pulmonary artery stenosis, Spina bifida occulta, T... OMIM:301030
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Buphthalmos, High palate, Neutropenia, Atrial septal defect, Recurrent ... OMIM:618005
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypertelorism, Cryptorchidism, Patent duct... ORPHA:363528
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Loss of ambulation, Small basal ganglia, Self-mutilation o... ORPHA:2388
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis OMIM:619239
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Paralysis, Hydrocephalus, Oculomotor apraxia, Spastic paraplegia, Lim... ORPHA:2072
Phosphoribosylpyrophosphate Synthetase Superactivity
Short nose, Depressed nasal bridge, Convex nasal ridge, Hypotelorism OMIM:300661
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Ventricular septal defect, Intestinal malrot... ORPHA:1199
Ververi-Brady Syndrome
High palate, Transposition of the great arteries, Hypertelorism OMIM:617982
Exstrophy-Epispadias Complex
Abnormal joint morphology, Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Coffin-Siris Syndrome 5
Atrial septal defect OMIM:616938
Delpire-Mcneill Syndrome
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia OMIM:619083
Developmental And Epileptic Encephalopathy 90
Atrial septal defect OMIM:301058
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Vascular dilatation OMIM:219730
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... ORPHA:85202
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Pleur... OMIM:617397
Alagille Syndrome 1
Ventricular septal defect, Hypertelorism, Cholestasis, Coarctation of aorta, Reduced number of in... OMIM:118450
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, Autoimmune hemolytic anemia, Autoimmune ... ORPHA:391487
Alg9-Cdg
Hepatomegaly, Villous atrophy, Ventricular septal defect, Hypertelorism, Pericardial effusion, Ab... ORPHA:79328
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... ORPHA:90307
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, High palate, Pulmonary artery... OMIM:620113
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Cleft palate ORPHA:93946
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Cleft palate OMIM:147800
Fraser Syndrome
Encephalocele, Anal stenosis, Anophthalmia, Hypertelorism, Cryptorchidism, Myelomeningocele, Abno... ORPHA:2052
3Mc Syndrome 1
Ventricular septal defect, Supernumerary nipple, Hypertelorism, Patent ductus arteriosus, Cleft p... OMIM:257920
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Congenital Myopathy 15
Osteopenia, Vocal cord paralysis, Joint hypermobility, Camptodactyly OMIM:620161
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Dementia... OMIM:234200
Zechi-Ceide Syndrome
Atrial septal defect, Cleft palate, Abnormal heart morphology ORPHA:217017
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Supernumerary... ORPHA:261494
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... ORPHA:124
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Aggressive behavior, Leukoencephalopathy, Cerebral atrophy, Dys... ORPHA:572798
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni... OMIM:300472
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect OMIM:620211
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Optic disc hypoplasia, Optic nerve h... ORPHA:79345
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Patent ductus arterios... ORPHA:354
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Vocal cord paralysis, Intrinsic hand muscle atrophy, K... OMIM:615490
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Lymphangioma, Arteriovenous malformation, Ovarian neoplasm ORPHA:137608
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... ORPHA:97360
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism, High palate ORPHA:776
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Substantia nigra gliosis, Facial-lingual fasciculations, ... ORPHA:276244
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Hyperactivity, Microcephaly, Basal ganglia calcificatio... OMIM:617281
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Atrial... ORPHA:2519
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Pyloric stenosis, Submuco... ORPHA:457279
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Knee dislocation, Shoulder ... ORPHA:536532
Alazami Syndrome
Atrial septal defect, Deeply set eye ORPHA:319671
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... OMIM:227330
Al Kaissi Syndrome
Atrial septal defect, High, narrow palate, Hypertelorism OMIM:617694
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect OMIM:615160
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Gastrointestin... ORPHA:391641
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardi... ORPHA:26793
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Hypertelorism OMIM:618027
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Stereotypical hand wringing, ... OMIM:619179
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Gastroesophageal reflux, Hypertelorism ORPHA:261279
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal heart m... ORPHA:404440
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Cleft palate, High pala... ORPHA:52055
Seckel Syndrome 9
Atrial septal defect, Recurrent respiratory infections, Pulmonary artery hypoplasia, Ventricular ... OMIM:616777
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia invol... ORPHA:221016
White-Sutton Syndrome
Optic nerve hypoplasia, Hypertelorism, Patent ductus arteriosus, Cleft palate, High palate, Gastr... OMIM:616364
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Hypertrophic cardiomyopathy, Patent foramen ovale, Hepatomegaly OMIM:614582
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Gastroesophageal reflux, Hypoplastic left heart, Bicuspid aortic valve OMIM:619721
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Hypertelorism, Patent ductus arteriosus, Cleft palate, Hydrocele testis, Gastroeso... OMIM:614080
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft pa... OMIM:300712
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Osteolysis, Cerebral atrop... ORPHA:2396
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Hypertelorism, Hydrocephalus, P... OMIM:300373
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, High palate, Ventricular septal defect, Cryptorchidism OMIM:617452
Focal Dermal Hypoplasia
Anophthalmia, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hydroc... OMIM:305600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertelorism, Cleft palate, Hypertrophic cardiomyopathy... OMIM:616897
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Talipes equinovarus, Craniosynostosis OMIM:601374
Meier-Gorlin Syndrome 7
Anal stenosis, Ventricular septal defect, Complete atrioventricular canal defect, Cryptorchidism,... OMIM:617063
Noonan Syndrome 13
Hypertelorism, Cryptorchidism, Mitral valve prolapse, Gastroesophageal reflux, High palate, Atria... OMIM:619087
1P36 Deletion Syndrome
Aortic arch aneurysm, Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus... ORPHA:1606
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Ulnar deviation of the hand, Congenital hip dislocation, Elbow... OMIM:617137
Donnai-Barrow Syndrome
Ventricular septal defect, Intestinal malrotation, Hypertelorism, Hypoplasia of the iris, Proptos... OMIM:222448
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ventricular septal defect, Ascending tubular aorta aneurysm, High palate, Atrial ... OMIM:309520
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Clef... OMIM:263520
Orofaciodigital Syndrome I
Hepatic cysts, Hamartoma of tongue, Hypertelorism, Pancreatic cysts, Myelomeningocele, Hydrocepha... OMIM:311200
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho... ORPHA:42775
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Abnormal lung lobation, Cleft palate OMIM:217100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Patent ductus ar... OMIM:620005
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Varicose veins, Chylothorax, M... OMIM:153400
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Laryngeal Abductor Paralysis
Vocal cord paralysis, Talipes equinovarus, Microcephaly OMIM:150260
Doors Syndrome
Adrenal hyperplasia, Hypertelorism, Cleft palate, Sirenomelia, Narrow palate, High palate, Gastro... ORPHA:79500
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Optic disc hypoplasia, Ventricular septal defect, Hypertelorism OMIM:619306
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Schinzel-Giedion Syndrome
Short neck, Vocal cord paralysis, Tibial bowing, Hypertonia, Sclerosis of skull base, Scoliosis, ... ORPHA:798
Cardiofaciocutaneous Syndrome 1
Hypertelorism, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Proptosis, High palate, ... OMIM:115150
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Thrombocy... OMIM:619980
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Patent foramen ovale OMIM:620327
Kleefstra Syndrome 1
Recurrent respiratory infections, Protruding tongue, Hypertelorism, Cryptorchidism, Conotruncal d... OMIM:610253
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia OMIM:615503
Wiedemann-Steiner Syndrome
Hypertelorism, Cryptorchidism, Patent ductus arteriosus, High palate, Atrial septal defect OMIM:605130
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Microcephaly OMIM:608747
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect OMIM:619356
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Hydrocephalus, Head-banging, Self-injurious behavior, Lateral ventricle dil... OMIM:619575
Atelosteogenesis Type I
Hypertelorism, Malrotation of colon, Cleft palate, Proptosis, Pulmonary hypoplasia, Abnormal panc... ORPHA:1190
Mosaic Variegated Aneuploidy Syndrome 1
Hypertelorism, Cryptorchidism, Hydrocephalus, Cleft palate, Pulmonic stenosis, Atrial septal defe... OMIM:257300
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Short neck... ORPHA:98863
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hypertelorism, Pancreatic steatosis, Crypt... OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchi... OMIM:300998
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Bohring-Opitz Syndrome
Recurrent respiratory infections, Cardiomegaly, Hypertelorism, Cleft palate, Coloboma, Abnormal c... ORPHA:97297
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia ORPHA:1203
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Optic disc coloboma, Cleft palate, Colo... ORPHA:251014
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Attention deficit hyperactivity disorder, Impaired soc... ORPHA:8
Chromosome 10Q26 Deletion Syndrome
Hypertelorism, Cryptorchidism, Patent ductus arteriosus, High palate, Atrial septal defect OMIM:609625
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Cleft palate, Coloboma, High palate, Atrial se... OMIM:309500
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Abnormally large globe ORPHA:96190
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, High palate, Ventricular septal defect, Cryptorchidism ORPHA:505237
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Hypertelorism, Abnormal ri... ORPHA:500095
Slc35A2-Cdg
Cerebral white matter atrophy, Microcephaly, Inability to walk, Cortical dysplasia, Cerebral atro... ORPHA:356961
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, ... ORPHA:264200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale OMIM:615156
Machado-Joseph Disease Type 1
Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abn... ORPHA:276238
Machado-Joseph Disease Type 2
Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abn... ORPHA:276241
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... OMIM:618748
Woods Syndrome
Ventricular septal defect, Supernumerary nipple OMIM:615236
Developmental And Epileptic Encephalopathy 18
Atrial septal defect OMIM:615476
Andersen-Tawil Syndrome
Joint laxity, Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 toe syndactyly... ORPHA:37553
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dilatation, Tip-toe ... OMIM:617296
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Microcephaly, Inability to walk, Stereotypical hand wringing, Later... OMIM:619229
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial diss... ORPHA:1900
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect ORPHA:500533
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Rectovaginal fistula, Atrial septal defect, A... OMIM:300707
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Hypertelor... ORPHA:79329
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... ORPHA:35689
Lissencephaly 9 With Complex Brainstem Malformation
Hypertelorism, Ventricular septal defect, Dysphagia OMIM:618325
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis, Short toe, Palmar hyperlinearity, Palmoplantar keratoderma, Short finger OMIM:242100
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septal defe... ORPHA:79330
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Jansen-De Vries Syndrome
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Ataxia, Microcephaly, Abnormal eating behavior, Abnormal dri... ORPHA:209905
Marshall-Smith Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Bilateral cryptorchidism, Pyloric stenosis, Hy... OMIM:602535
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Cryptorchidism, Patent ductus ... OMIM:616894
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Steppage gait OMIM:256850
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Hyperteloris... OMIM:613457
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Hyperlordo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Hyperlordo... ORPHA:98853
Kury-Isidor Syndrome
High palate, Ventricular septal defect, Deeply set eye OMIM:619762
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:453504
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Myelopathy, Spinal cord lesion, Cervical myel... ORPHA:79093
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Intestinal ps... ORPHA:352665
Silver-Russell Syndrome
Relative macrocephaly, Sandal gap, Lower limb asymmetry, Delayed skeletal maturation, Upper limb ... ORPHA:813
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microphthalmia, Iris col... ORPHA:2250
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Hypertelorism, Mitral valve prolapse, Macroglos... OMIM:617107
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, Hypertelorism, Coarctation of aorta, High pala... OMIM:244450
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Tethered cord, Abnormal heart valve morphology, Hypertelorism, ... ORPHA:280
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, High palate, Atrial... ORPHA:230851
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Proptosis, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Cleft palate, Coarctation of aorta, Pulmonary hypopl... ORPHA:1692
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Fontaine Progeroid Syndrome
Bicuspid aortic valve, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atri... OMIM:612289
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Ventricular septal defect, Intest... ORPHA:2729
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Oculoectodermal Syndrome
Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:600268
Rothmund-Thomson Syndrome Type 1
Osteopenia, Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Delayed skeletal mat... ORPHA:221008
Tick-Borne Encephalitis
Back pain, Speech apraxia, Stiff neck, Incoordination, Facial palsy, Paralysis, Tremor, Limb pain... ORPHA:297
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Cranioectodermal Dysplasia 2
Hepatomegaly, Cholangitis, Hypertelorism, Splenomegaly, Patent ductus arteriosus, Recurrent pneum... OMIM:613610
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Hypertelorism, Splenomegaly, Patent ductus arteriosus, M... OMIM:618268
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Cong... OMIM:611812
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly, Patent ductus arteriosus, Coar... ORPHA:17
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Hypertelorism, Crypto... ORPHA:1340
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Aganglionic megacolon, Supernumerary nipple, H... OMIM:235730
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clon... OMIM:211530
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like e... ORPHA:137675
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Intestinal malrotation... ORPHA:955
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus, Proptosis OMIM:207410
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Spastic paraplegia, Absent Achilles reflex, Abnormal cerebral white matt... OMIM:263570
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypertelorism, Cryptorc... OMIM:614866
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Thyroid hypoplasia, Absent nipple, Aplasia of t... OMIM:620186
Fanconi Anemia, Complementation Group N
Aplastic anemia, Ventricular septal defect, Hypertelorism OMIM:610832
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:614105
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Hypertelorism, Cleft palate, Atrial septal defect OMIM:614207
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Large placenta, Cryptorchidism, Splenomegaly, Abnormal pancreas morph... ORPHA:116
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Jaundice, Cholestatic liver diseas... OMIM:613404
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Cleft palate ORPHA:1915
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Kabuki Syndrome 2
Cleft palate, Coarctation of aorta, High palate, Pulmonic stenosis, Atrial septal defect, Atriove... OMIM:300867
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
Distal Deletion 12Q
Unilateral cryptorchidism, Esophageal atresia, Patent ductus arteriosus, High, narrow palate, Pyl... ORPHA:96149
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma... OMIM:615272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Hypertelorism, Patent ductus arteriosus, Hydrocele testis, Aortic root aneurysm, R... ORPHA:280633
Pontocerebellar Hypoplasia, Type 8
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia OMIM:614961
Costello Syndrome
Ventricular septal defect, Hypertelorism, Pyloric stenosis, Hydrocephalus, Pneumothorax, Mitral v... OMIM:218040
Hyperekplexia 2
Exaggerated startle response OMIM:614619
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus... ORPHA:96121
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Recurrent respiratory infections, Umbilical hernia, Hypertelorism OMIM:619758
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Pes planus, Relative macrocephaly, Ataxia, Speech apraxia, Kyphoscol... ORPHA:466791
Short Stature And Facioauriculothoracic Malformations
High palate, Ventricular septal defect, Cleft palate OMIM:609654
3Q29 Microduplication Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia, Iri... ORPHA:251038
Intellectual Developmental Disorder, Autosomal Recessive 65
Secundum atrial septal defect, Atrial septal defect, Supernumerary nipple, Cryptorchidism OMIM:618109
Branchiooculofacial Syndrome
Anophthalmia, Supernumerary nipple, Hypertelorism, Malrotation of colon, Pyloric stenosis, Crypto... OMIM:113620
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Left ... OMIM:619167
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Hypertelorism OMIM:616901
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Protruding tongue, Hype... OMIM:214100
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis ORPHA:803
Ramos-Arroyo Syndrome
Aganglionic megacolon, Hypertelorism, Patent ductus arteriosus, Xerostomia, Smooth tongue, Atrial... ORPHA:1051
Radio-Tartaglia Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Deeply set eye, High palate, Gastr... OMIM:619312
Glioblastoma
Abnormal cerebral white matter morphology, Paralysis, Cerebral edema, Abnormal corpus callosum mo... ORPHA:360
Monosomy 13Q34
Hypertelorism, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Cryptorchidism, Microphthalmia, Cleft palate ORPHA:2728
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Hypertelorism, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morpho... ORPHA:456312
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Widening of cervical ... OMIM:253310
Whim Syndrome
Abnormal small intestine morphology, Lymphopenia, Pneumonia, Respiratory tract infection, Atelect... ORPHA:51636
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Bradykinesia, Hypoplasia of the corpus callosum,... OMIM:614924
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Proptosis, At... ORPHA:1519
Norrie Disease
Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Venous insufficiency, Cr... ORPHA:649
Genitopatellar Syndrome
Hypertelorism, Cryptorchidism, Gastroesophageal reflux, Pulmonary hypoplasia, Atrial septal defect ORPHA:85201
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Hepatoblastoma, Atrial septal defect, Exaggerated median tongue furrow, H... OMIM:312870
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Ventricular septal defect ORPHA:1488
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Cleft... OMIM:610759
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma OMIM:615877
Cerebrofacioarticular Syndrome
Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corp... ORPHA:314679
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... ORPHA:436252
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short... OMIM:613458
Atrial Septal Defect 9
Secundum atrial septal defect, Bicuspid aortic valve OMIM:614475
Alveolar Echinococcosis
Pulmonary cyst, Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis,... ORPHA:284
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Opitz Gbbb Syndrome
Ventricular septal defect, Hypertelorism, Rectourethral fistula, Cryptorchidism, Cleft palate, Hi... OMIM:300000
Hamamy Syndrome
Hypoparathyroidism, Microcytic anemia, Hypertelorism, Complete atrioventricular canal defect, Cry... OMIM:611174
Poliomyelitis
Stiff neck, Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic moveme... ORPHA:2912
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis, Patent foramen ovale OMIM:618832
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Hypertelorism, Complete atriove... OMIM:617925
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Pes planus, Decreased distal sensory nerve action potent... ORPHA:99956
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Deeply set eye, Aortic root aneurysm, Submucous cleft hard palate OMIM:618891
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus, Recurrent up... ORPHA:1465
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Gabriele-De Vries Syndrome
Waddling gait, Cortical dysplasia, Lateral ventricle dilatation, Tip-toe gait, Attention deficit ... OMIM:617557
Codas Syndrome
Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Ventricular septal defect, Cryptorchidism ORPHA:166035
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vertebrae, Scoliosis OMIM:271520
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Esophageal atresia, Ventricular septal defect, Cleft palate OMIM:610536
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hypertelorism, Abnormal morphology of the great vessels, Cleft palate, Annular pancreas, Ankylogl... ORPHA:488642
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplas... OMIM:620025
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Khan-Khan-Katsanis Syndrome
Tethered cord, Patent ductus arteriosus after premature birth, Neutropenia, Buphthalmos, Bilatera... OMIM:618460
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Cleft palate ORPHA:79113
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Dilatation of the cerebral art... ORPHA:730
Lymphatic Malformation 13
Hypertelorism, Patent ductus arteriosus, Hydrocele testis, Atrial septal defect, Patent foramen o... OMIM:620244
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... ORPHA:96191
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Hypertelorism, High, narrow palate, Hydrocephalus, Pylor... ORPHA:3472
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteri... ORPHA:261337
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Malabsorption, Pyloric stenosis, Cryptorchidism, Jaundic... ORPHA:912
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, P... ORPHA:2260
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Agenesis of pineal gland, Abnormal heart valve morphology, Optic nerve hyp... ORPHA:536471
Cutis Laxa, Autosomal Recessive, Type Iic
Prominent superficial veins, Hypertelorism, Bilateral cryptorchidism, Pyloric stenosis, Pneumotho... OMIM:617402
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect, Cleft palate, Polycystic ovaries ORPHA:1770
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Gastroesophageal reflux, Ventricular septal defect, Cleft palate ORPHA:447980
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... OMIM:620024
Zaki Syndrome
High palate, Patent ductus arteriosus, Patent foramen ovale OMIM:619648
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
21Q22.11Q22.12 Microdeletion Syndrome
Hypertelorism, Anemia, Hypoplastic nipples, Atrial septal defect, Thrombocytopenia ORPHA:261323
Chime Syndrome
Ventricular septal defect, Hypertelorism, Tetralogy of Fallot, Cleft palate, Acute leukemia, Reti... ORPHA:3474
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Protruding tongue, Hypertelorism, Cryptorchidism, Reduced alpha/beta s... OMIM:301040
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Hypertelorism, Aortic root aneurysm, Mitral ste... ORPHA:96201
Neurodevelopmental Disorder With Spasticity And Poor Growth
Recurrent respiratory infections, Hypertelorism, High, narrow palate, Patent ductus arteriosus, G... OMIM:618076
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Narrow palate, Pulmonic s... OMIM:277600
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Protruding tongue, Secundum atrial septal defect, Splenomegaly, Jaundice, Perimembr... OMIM:608779
Diamond-Blackfan Anemia 10
Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Cleft ... OMIM:613309
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect OMIM:619908
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Hypertelorism, Bilateral cryptorchidism, Pneumothorax, Ascending tubular... OMIM:617403
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Malabsorption... OMIM:147920
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
C Syndrome
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, High palate OMIM:211750
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Dysosteosclerosis
Ventricular septal defect, Hypertelorism ORPHA:1782
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, High, narrow palate, Patent ductus arteriosus, Abnormal lung lobation, Abnorm... ORPHA:369837
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Aganglionic megacolon, High, narrow palate, Rectal prolapse,... OMIM:309800
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple, Cleft palate OMIM:106260
Phelan-Mcdermid Syndrome
Ventricular septal defect, Hypertelorism, Patent ductus arteriosus, Deeply set eye, High palate, ... OMIM:606232
Nephrotic Syndrome, Type 11
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:616730
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology ORPHA:1292
Costello Syndrome
Ventricular septal defect, Cryptorchidism, Narrow palate, Mitral valve prolapse, Macroglossia, Ga... ORPHA:3071
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, Deeply set eye, High palate, Gastroesophageal refl... OMIM:607872
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal cerebral white matter morphology, Abnormal autonomic nervous system physiology, Cerebral... ORPHA:83601
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Hepatomegaly, Ventricular septal defect, Microcytic anemia, Hypertelorism, Spl... OMIM:619525
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Thyroid hypoplasia, Ventricular septal defe... ORPHA:3047
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Deeply set eye, Bifid uvula, Pulmonic stenosis OMIM:615802
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft palate, Macroglossia, ... OMIM:614609
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Increa... ORPHA:261250
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Alg12-Cdg
Recurrent respiratory infections, Intestinal malrotation, Recurrent pharyngitis, Muscular ventric... ORPHA:79324
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... OMIM:610199
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Dysphagia, Primary microcephaly OMIM:619847
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Optic nerve hypoplasia, Hypertelorism ORPHA:457284
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation ORPHA:75508
Mucolipidosis Type Ii
Recurrent respiratory infections, Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomeg... ORPHA:576
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent... OMIM:607143
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypertelor... OMIM:616682
Bdv Syndrome
Atrial septal defect, Cryptorchidism OMIM:619326
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypertelorism, Cryptorchidism, Hydrocephalus, Fronta... OMIM:268300
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Narrow palate, Ascending ... OMIM:608328
Zttk Syndrome
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Patent ductus arteriosus... OMIM:617140
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow palate,... ORPHA:193
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Portal hypertension, Malabsorption,... OMIM:243800
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Patent foramen ovale, Cleft palate, Oral-pharyngeal dysphagia OMIM:619184
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Cerebral calcification, Basal ganglia calcification, Diaphyseal scl... OMIM:259730
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Hypertelorism, Cryptorchidism, Arteria lusoria, Anteriorly placed anus, Hig... OMIM:618653
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect OMIM:619115
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypertelorism, Cleft palate, Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot ORPHA:306542
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Filippi Syndrome
Cryptorchidism, Ventricular septal defect, Supernumerary nipple ORPHA:3255
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo... OMIM:167800
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage ORPHA:624
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Galloway-Mowat Syndrome 7
High palate, Dilated cardiomyopathy, Ventricular septal defect, Cleft palate OMIM:618348
Distal Deletion 6P
Atrial septal defect, Hypoplasia of the iris, Hypertelorism ORPHA:96125
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Hypertelorism, Hepatic fibrosis, Steatorrhea, Hepatic steatosi... OMIM:616263
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hypertelorism, Microvesicular hepatic steatosis, Patent ductus arteriosus, High pal... OMIM:300868
Ctcf-Related Neurodevelopmental Disorder
Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Deep... ORPHA:363611
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Diamond-Blackfan Anemia 21
Hypertelorism, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Glutaric Acidemia I
Choreoathetosis, Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
African Trypanosomiasis
Abnormal basal ganglia MRI signal intensity, Papilledema, Abnormal central motor function, Involu... ORPHA:3385
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp... OMIM:557000
Teebi-Shaltout Syndrome
Ventricular septal defect, Hypertelorism, High, narrow palate, Cleft palate, Microphthalmia, Aort... OMIM:272950
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect, Supernumerary nipple, Cryptorchidism ORPHA:217346
Intellectual Developmental Disorder, Autosomal Recessive 72
Secundum atrial septal defect OMIM:618665
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Hypertelorism, Cryptorchidism, High palate, Pulmonic stenosis, Atrial ... OMIM:607721
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Bon... OMIM:227645
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Gastroesophageal reflux, Dysphagia, Atrial septal defect,... ORPHA:70
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:617260
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic ... OMIM:609069
Cornelia De Lange Syndrome 1
Ventricular septal defect, Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, P... OMIM:122470
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Abnorm... ORPHA:449432
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Inflammation of the large intestine... OMIM:232220
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Arboleda-Tham Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Secundum atr... OMIM:616268
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Rectal prolapse, Gast... ORPHA:904
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect, Cryptorchidism, Cleft palate, Deeply set eye, Coloboma, High palate, D... ORPHA:251028
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,... ORPHA:97214
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Lateral ventricle dilatati... ORPHA:263487
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Muscular ventricular septal defect, Coa... OMIM:210710
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts, Vascular dilatation OMIM:616307
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Fasciculations ORPHA:682
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Hypertrophic cardiomyopathy, Bifid uvula OMIM:619121
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... OMIM:617941
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Cerebral calcification, Abnormal lateral ventri... ORPHA:1855
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Ventricular septal defect OMIM:620073
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Anterior pituitary hypoplasia, Pyloric stenosis, Patent ductus arterio... ORPHA:464306
Rothmund-Thomson Syndrome, Type 2
Hypertelorism, Cryptorchidism, Anteriorly placed anus, High palate, Microphthalmia, Annular pancreas OMIM:268400
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Diffuse cerebral atrophy, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micro... ORPHA:83617
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Hypertelorism, Cryptorchidism, Pneumothorax, Cleft palate,... OMIM:601776
Schinzel-Giedion Midface Retraction Syndrome
Hepatoblastoma, Hypertelorism, Splenopancreatic fusion, Macroglossia, Hypoplastic nipples, Shallo... OMIM:269150
Livedoid Vasculopathy
Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ... ORPHA:542643
Lethal Kniest-Like Dysplasia
Atrial septal defect, Cleft palate ORPHA:2347
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Patent ductus arteriosus, Cleft pala... OMIM:117650
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Microcephaly, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Trach... ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Anomalous origin of left subcla... ORPHA:438213
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Cerebral cortical neurodegeneration, Osteoporosis, Cerebral atrophy, Hypertoni... OMIM:203700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Deeply set eye, Posterior pi... ORPHA:464311
Bainbridge-Ropers Syndrome
Microcephaly, Inability to walk, Self-injurious behavior, Lateral ventricle dilatation, Hypoplasi... OMIM:615485
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect OMIM:608688
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo... OMIM:610505
Neurocardiofaciodigital Syndrome
Patent ductus arteriosus, Double inlet left ventricle, High palate, Atrial septal defect, Tetralo... OMIM:619869
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Macroglossia, High ... ORPHA:769
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... ORPHA:276280
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Cleft soft palate OMIM:620183
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale ORPHA:542306
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Optic nerve hypoplasia, ... ORPHA:500150
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Perlman Syndrome
Distal ileal atresia, Cryptorchidism, Pancreatic islet-cell hyperplasia, Interrupted aortic arch,... OMIM:267000
Clapo Syndrome
Lymphangioma, Varicose veins, Venous malformation ORPHA:168984
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Cryptorchidism, Xerostomia, Gastroesophageal reflux, Small pitu... ORPHA:398069
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Fibrochondrogenesis 1
Proptosis, Patent foramen ovale, Cleft palate OMIM:228520
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Patent duct... OMIM:154400
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Ulnar-Mammary Syndrome
Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Ectopic anus, Breast aplasia, Hypopl... ORPHA:3138
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Atrial septal defect, Macroglossia ORPHA:93947
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Penile Agenesis
Ventricular septal defect, Rectal fistula, Atrophy of the spinal cord, Cryptorchidism, Anorectal ... ORPHA:49
Omodysplasia 1
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Atrial septal defect, Umbil... OMIM:258315
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Celiac disease, High, narrow pa... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Celiac disease, High, narrow pa... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Celiac disease, High, narrow pa... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Celiac disease, High, narrow pa... ORPHA:881
Bardet-Biedl Syndrome 20
Atrial septal defect, Bilateral cryptorchidism, Pancreatitis OMIM:619471
Microphthalmia, Syndromic 6
Anophthalmia, Cryptorchidism, Cleft palate, Coloboma, High palate, Microphthalmia, Microglossia, ... OMIM:607932
Distal Deletion 19P
Ventricular septal defect, Cleft palate, Tricuspid valve prolapse, Umbilical hernia, Pulmonary va... ORPHA:96129
Townes-Brocks Syndrome
Rectoperineal fistula, Abnormal pulmonary valve morphology, Cryptorchidism, Patent ductus arterio... ORPHA:857
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Ventricular septal defect, Hypertelorism, Ventricular septal hy... OMIM:608670
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, High, narrow pa... ORPHA:488632
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Irritability, Lateral ventricl... OMIM:615873
Ring Chromosome 12 Syndrome
Secundum atrial septal defect, High, narrow palate, Breast hypoplasia, Cryptorchidism ORPHA:1439
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Ventricular septal defect, Bicuspid aortic valve, Hypertelorism, High, narrow ... OMIM:619475
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Hypertelorism, Cryptorchidism, Hydrocephalus, Pa... OMIM:261540
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Cutis Laxa, Autosomal Dominant 1
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Cryptorchidism, Pulmonary artery stenosis, Dilatation of the ventricul... ORPHA:459070
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Spondyloocular Syndrome
Duodenal ulcer, Unilateral cryptorchidism, Mitral valve prolapse, Atrial septal defect, Dysplasti... OMIM:605822
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Patent ductus arteriosus, Submucous cleft hard palate, Elliptocytosis, Patent ... OMIM:300990
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Irritability, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dysp... OMIM:618367
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Restrictive Dermopathy 1
Hypertelorism, Patent ductus arteriosus, Submucous cleft hard palate, Hydropic placenta, Short um... OMIM:275210
Oculodentodigital Dysplasia
Atrial septal defect, Microphthalmia, High palate, Cleft palate OMIM:164200
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Adrenal p... ORPHA:892
Leigh Syndrome
Ventricular septal defect, Gastrointestinal dysmotility, Dysphagia, Neutropenia, Hypertrophic car... ORPHA:506
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Decreased resp... ORPHA:268261
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
6Q Terminal Deletion Syndrome
Dysmetria, Gait ataxia, Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of th... ORPHA:75857
Turnpenny-Fry Syndrome
Recurrent respiratory infections, Patent ductus arteriosus, Mitral valve prolapse, High palate, G... OMIM:618371
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Inability to walk, Colpocephaly, Ataxia, Microcephaly OMIM:620083
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Proptosis, High palate, Macrov... OMIM:619127
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Protruding tongue OMIM:212066
Rift Valley Fever
Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Bent Bone Dysplasia Syndrome 2
Atrial septal defect, Hepatomegaly OMIM:620076
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Tethered cord, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus... OMIM:619522
Renal Agenesis
Ventricular septal defect, Pulmonary hypoplasia, Anal atresia ORPHA:411709
Inhalational Botulism
Paralysis ORPHA:254504
Bartsocas-Papas Syndrome 1
Anal stenosis, Hypertelorism, Bilateral cryptorchidism, Cleft palate, Microphthalmia, Patent fora... OMIM:263650
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... ORPHA:79102
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Diphallia
Abnormality of the gastrointestinal tract, Duplicated colon, Rectoperineal fistula, Cryptorchidis... ORPHA:227
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Cerebellofaciodental Syndrome
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse OMIM:616202
Gitelman Syndrome
Ataxia, Chondrocalcinosis, Paralysis OMIM:263800
Sandhoff Disease
Exaggerated startle response OMIM:268800
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Hypertelorism, Secundum atrial septal defect, Patent ductus arteriosus, Ch... OMIM:613355
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Anterior pituitary hypoplasia, Hypertelorism,... OMIM:619841
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Atrial septal defect, Gastroesophageal reflux ORPHA:522077
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Increased cup-to-disc ratio,... OMIM:211380
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis, Hypertelorism OMIM:601321
Distal Renal Tubular Acidosis
Osteomalacia, Paralysis, Rickets, Bone pain, Increased susceptibility to fractures, Reduced bone ... ORPHA:18
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Hamartoma of tongue, Bilateral cryptorchidism, Patent ductus arteriosu... ORPHA:434179
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Abnormal esophagus... ORPHA:198
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Patent foramen ovale, Supernumerary nipple, Hypertelorism ORPHA:477993
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Ventricular septal defect, Gastroesophageal reflux OMIM:614653
Hypothyroidism, Congenital, Nongoitrous, 5
Patent foramen ovale, Thyroid hypoplasia, Ectopic thyroid OMIM:225250
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect OMIM:609460
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Submucous cleft ha... OMIM:619539
Keutel Syndrome
Ventricular septal defect, Recurrent bronchitis, Pulmonary artery hypoplasia, Pulmonic stenosis, ... OMIM:245150
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea OMIM:615935
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Cerebral calcification, Osteomalacia, Stippled calcification of the shou... ORPHA:51608
Sotos Syndrome
Ventricular septal defect, Aganglionic megacolon, Small cell lung carcinoma, Patent ductus arteri... ORPHA:821
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Patent ductus arteriosus, Cleft palate, Cardiomyopathy, High pala... ORPHA:480880
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:619479
Craniotubular Dysplasia, Ikegawa Type
Proptosis, Ventricular septal defect, Hypertelorism OMIM:619727
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Hypertel... OMIM:143095
Gitelman Syndrome
Chondrocalcinosis, Cerebral calcification, Gout, Paralysis ORPHA:358
Genitopatellar Syndrome
Anal stenosis, Ventricular septal defect, Cryptorchidism, Malrotation of small bowel, Anteriorly ... OMIM:606170
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect, Supernumerary nipple, Submucous cleft hard palate, Cleft palate, Submu... ORPHA:1071
Femoral-Facial Syndrome
Ventricular septal defect, Cryptorchidism, Cleft palate, Gastroesophageal reflux, Pulmonic stenos... OMIM:134780
Pallister-Killian Syndrome
Anal stenosis, Tethered cord, Ventricular septal defect, Intestinal malrotation, Supernumerary ni... OMIM:601803
Witteveen-Kolk Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Dysplastic corpus callosum, Cortical dysplasia,... OMIM:613406
Cornelia De Lange Syndrome
Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Cleft palate... ORPHA:199
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Esophageal atre... ORPHA:506358
Ulnar-Mammary Syndrome
Anal stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypopla... OMIM:181450
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Secundum atrial septal defect, Lymphangioma, Subarterial ventricular septal defect, Recurrent pne... ORPHA:99646
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect, Cleft palate ORPHA:1934
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Hypertelorism, Pyloric stenosis, Cryptorchidism, Cardio... OMIM:216340
Pineoblastoma
Papilledema, Midline brain calcifications, Paralysis ORPHA:251909
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Gastroesophageal reflux, High palate OMIM:300896
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cryptorchidism, Recurrent upper respiratory tract infections, Cleft palate... OMIM:308205
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Optic nerve hypoplasia, Recurrent pneumonia, High palate, Umbilical he... OMIM:620330
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Ventricular septal defect OMIM:259770
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis OMIM:250220
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Hypermobile Ehlers-Danlos Syndrome
Malabsorption, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Ascending t... ORPHA:285
Tyrosinemia, Type I
Hypophosphatemic rickets, Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Osteopenia, Periodic hypokalemic paresis, Osteoporosis, Tremor ORPHA:91347
Familial Cerebral Cavernous Malformation
Venous malformation, Spinal cord lesion, 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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