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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zic2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Zic2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism, Dolichocephaly ORPHA:1931
Acalvaria
Calvarial skull defect, Hydrocephalus, Spina bifida, Hypertelorism, Holoprosencephaly ORPHA:945
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Humero-Radial Synostosis
Limitation of joint mobility, Elbow dislocation, Abnormality of the wrist, Microcephaly, Aplasia/... ORPHA:3265
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Distal Deletion 13Q
Optic atrophy, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1590
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Trigonocephaly, An... OMIM:609637
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Limitation of joint mobility, Aplasia/Hypoplasia of t... ORPHA:2570
Primary Ciliary Dyskinesia
Polysplenia, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo... ORPHA:244
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callosum, Hydrocephalus... OMIM:614120
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal ... ORPHA:64754
Mental retardation, x-linked, syndromic, Turner type
Tapered finger, Holoprosencephaly, Limited elbow extension, Macrocephaly OMIM:300706
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Thoracic aortic aneurysm, Dextr... OMIM:619657
Holoprosencephaly 3
Depressed nasal bridge, Proptosis, Abnormality of the nose, Proboscis, Short columella, Hypotelor... OMIM:142945
Microhydranencephaly, X-Linked
Microcephaly, Holoprosencephaly, Multiple joint contractures OMIM:306990
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Ring Chromosome 21 Syndrome
Small hand, Spasticity, Clinodactyly, Thoracic hemivertebrae, Narrow palm, Microcephaly, Fused th... ORPHA:1445
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Microhydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Multiple joint contractures, Agenesis of corpus cal... OMIM:605013
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Joint stiffness, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus... ORPHA:2182
Intellectual Developmental Disorder, Autosomal Recessive 3
Progressive microcephaly, Short attention span, Hyperactivity OMIM:608443
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Ence... ORPHA:1908
Pseudotrisomy 13 Syndrome
Cyclopia, Median cleft palate, Encephalocele, Hypotelorism, Cryptorchidism, Ventricular septal de... OMIM:264480
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Hypotelorism, Midnasal stenosis, Coloboma, Abnormal nasopharynx morphol... OMIM:147250
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Spina bifida, Smal... OMIM:211960
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference, Tapered finger OMIM:619033
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Abnormal cranial nerve morphol... ORPHA:2345
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Cerebral cortical atrophy, Spasticity, Holoprosencephaly, Microcephaly ORPHA:2523
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Short attention span, Dysplastic corpus callosum, Abnormal cerebral white matte... ORPHA:500166
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... OMIM:611134
Muenke Syndrome
Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Hydrocephalus, Macrocephaly, ... ORPHA:53271
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Aplasi... ORPHA:2378
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, Neonatal death, Ce... OMIM:236500
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,... ORPHA:968
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Sacral dimple, Cerebellar hypoplasia, Postax... OMIM:614175
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb ... ORPHA:93351
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... OMIM:617967
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Holoprosencephaly, Proptosis, Hypertelorism ORPHA:2165
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Craniotelencephalic Dysplasia
Craniosynostosis, Hypotelorism, Frontal encephalocele OMIM:218670
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Distal Monosomy 7Q36
Optic atrophy, Bilateral single transverse palmar creases, Microcephaly, Short neck, Hypertonia, ... ORPHA:1636
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Abnormal form of the vertebral bodies,... ORPHA:2839
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Thanatophoric Dysplasia Type 2
Platyspondyly, Limitation of joint mobility, Micromelia, Encephalocele, Joint hypermobility, Brac... ORPHA:93274
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo... ORPHA:3250
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Abnormal palmar dermatoglyphics, Toe syndactyly,... ORPHA:3246
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Hypotelorism, Ventricula... OMIM:619123
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... ORPHA:1666
Dysplasia Epiphysealis Hemimelica
Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff... ORPHA:1822
Hartsfield Syndrome
Depressed nasal bridge, Encephalocele, Hypertelorism, Craniosynostosis, Lobar holoprosencephaly ORPHA:2117
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum, Short attention span, Dysphagia, Bradyphrenia ORPHA:200
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Mosaic Trisomy 9
Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphology, Endocardial fibr... ORPHA:99776
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Short distal phalanx of finger OMIM:601355
Holoprosencephaly 11
Holoprosencephaly, Proptosis, Hypotelorism OMIM:614226
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Absent septum pellucidum, Holoprosencephaly, Scoliosis... OMIM:601357
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Abnorma... ORPHA:2496
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Bile duct prol... OMIM:208540
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Iniencephaly
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Absent vertebra, Myelomeningoc... ORPHA:63259
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Pterygium, Agenesis of corpus callo... OMIM:225790
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Holoprosencephaly, Absent nares, Aplasia/Hypoplasia involving the nose ORPHA:990
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Hypotelorism, Ventricular septal defect, Anal atres... OMIM:612946
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Hypotelorism, Midnasal stenosis, Cyclopia... ORPHA:280200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Upper limb pain, Paresis of extensor muscles of the big toe, Poor fine motor coordination, Hand t... ORPHA:99947
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Cryptorchidism, Deeply set eye,... ORPHA:2162
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Right aortic arch, Dextrocardia, Bronchiectasis OMIM:617577
Congenital Vertical Talus
Abnormality of the foot musculature, Myelomeningocele, Ankle pain, Equinus calcaneus, Distal arth... ORPHA:178382
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial hand pol... OMIM:611561
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo... ORPHA:1106
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Hypotelorism, Deeply set eye ORPHA:251046
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Xk Aprosencephaly Syndrome
Hypotelorism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Anal atresia ORPHA:3469
Cerebrooculonasal Syndrome
Proboscis, Frontal bossing, Anteverted nares, Prominent nasal bridge, Encephalocele, Brachycephal... OMIM:605627
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Delayed skeletal maturation, Camptodac... ORPHA:1327
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Nievergelt Syndrome
Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta... OMIM:163400
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Microphthalmia/Coloboma 5
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma OMIM:611638
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Deeply set eye, Ventricular septal defect, Bicuspid aortic ... OMIM:265380
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited... OMIM:614078
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypotelorism, Ventricular septal defect, Atrial septal defect, Pulmonary sequestration, Patent du... OMIM:618330
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callosum, Irritability, Microcephal... OMIM:616657
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly, Facial palsy, Abnormality of bone mineral d... ORPHA:1114
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Pes cavus, Limited elbow extension, Pes planus, Coxa var... OMIM:615155
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla... ORPHA:1147
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Intestinal malrotation, Cryptorchidism, Anophthalmia, Ventricular septal... OMIM:615524
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tars... OMIM:618469
Holoprosencephaly 14
Alobar holoprosencephaly, Proboscis, Anteverted nares, Hydrocephalus, Aqueductal stenosis, Cyclop... OMIM:619895
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Recurrent sinu... OMIM:615482
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... OMIM:185800
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Delayed skeletal maturation, Hypoplastic vertebral bodies, Microc... ORPHA:2163
Anophthalmia Plus Syndrome
Choanal atresia, Abnormal nasal morphology, Spina bifida, Hypertelorism, Iris coloboma ORPHA:1104
Hydrolethalus
Micromelia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Postaxial hand ... ORPHA:2189
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Memory impairment, Lateral ventricle dilatation, Inappropriate behavior, Cer... OMIM:221770
Jackson-Weiss Syndrome
Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m... OMIM:123150
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal form of the verteb... ORPHA:3219
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Proximal placement of thumb, Kyphosis, Agenesis of corpus callosum OMIM:615433
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Alobar holoprosencephaly, Semilobar holoprosence... OMIM:301043
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Ence... ORPHA:564
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Muscle-Eye-Brain Disease
Optic atrophy, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hyper... ORPHA:588
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Carpal synostosis, Elbow contracture, Elbow ... OMIM:178110
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Semilobar ... OMIM:601370
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Intestinal malrotation, Cyclopia, Abnormal lung lobation, Encephalocele, Hypote... ORPHA:2166
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Abnormal optic disc morphology, Comp... ORPHA:363417
Masa Syndrome
Spastic paraplegia, Paraplegia, Pes cavus, Agenesis of corpus callosum, Microcephaly, Talipes equ... OMIM:303350
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metat... OMIM:605282
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy... OMIM:186400
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Diastomatomyelia,... ORPHA:1759
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... OMIM:311300
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Talonavicular Coalition
Abnormality of the ankle, Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finge... OMIM:186750
Diprosopus
Anencephaly ORPHA:1681
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Short neck, Narrow pelvis bone, ... ORPHA:66637
Joubert Syndrome 15
Ataxia, Oculomotor apraxia, Exencephaly, Preaxial polydactyly OMIM:614464
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Communicating hyd... OMIM:244400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso... OMIM:314390
Anencephaly 2
Anencephaly OMIM:619452
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Opisthotonus, ... OMIM:207950
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Hypotelorism, Deeply set eye,... ORPHA:250999
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Abnormal temper tantrums, Lateral ventricle dilatation, Dysg... ORPHA:300573
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Optic atrophy, Limitation of joint mobility, Agenesis of corpus cal... ORPHA:99742
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Loss of ambulation, Abnormal cerebral whit... OMIM:620315
Meacham Syndrome
Accessory spleen, Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 72
Bulbous nose, Spina bifida, Deeply set eye OMIM:620439
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobulated spleen, Ag... OMIM:601186
Dermatoosteolysis, Kirghizian Type
Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of... ORPHA:1657
Waardenburg Syndrome, Type 3
Spastic paraplegia, Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly... OMIM:148820
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Caudal Duplication
Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ... ORPHA:1756
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Prominent metopic ridge, Agen... OMIM:619148
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, Talocalca... OMIM:147891
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Hypertelorism OMIM:277740
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Talipes, Split hand, ... ORPHA:1335
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Kyphosis, Abnormal ver... ORPHA:3121
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Triploidy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Decreased skull ossification, Short... ORPHA:3376
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... ORPHA:1926
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Hypotelorism, Absent na... OMIM:142946
Trisomy 18
Iris coloboma, Cyclopia, Cryptorchidism, Ventricular septal defect, Anal atresia, Esophageal atre... ORPHA:3380
Microcephaly With Cervical Spine Fusion Anomalies
Microcephaly, Vertebral fusion, Spinal cord compression, Spinal instability OMIM:251250
10Q22.3Q23.3 Microduplication Syndrome
Tetralogy of Fallot, Hypotelorism, Deeply set eye ORPHA:276422
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... ORPHA:95699
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Broad foot, Neonatal death, Sho... OMIM:269860
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypotelorism, Ventricular septal defect OMIM:618974
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Abn... ORPHA:1120
Holoprosencephaly 1
Alobar holoprosencephaly, Proboscis, Hypotelorism, Ethmocephaly, Cyclopia, Aplasia of the nose OMIM:236100
Distal Symphalangism
Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C... ORPHA:3248
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Absent gallbladder, Hypotelorism, Overriding aorta, Microphthalmia, Cyclopia... ORPHA:3186
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Cyclopi... ORPHA:261236
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Proptosis, Chorioretinal coloboma, Probosc... OMIM:157170
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Abnormal hand morpho... ORPHA:93307
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Monosomy 18P
Kyphoscoliosis, Microcephaly, Short neck, Brachydactyly, Holoprosencephaly ORPHA:1598
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Hypotelorism, Hypertelorism, Short nose OMIM:613544
Cerebrocostomandibular Syndrome
Hydranencephaly, Tracheomalacia, Myelomeningocele, Cerebral calcification, Microcephaly, Spina bi... ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Scoliosis, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Enc... OMIM:253800
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Arachnodactyly, Short neck, Short foot, Knee flexion contracture, Diffuse cerebral a... OMIM:613776
Juvenile Huntington Disease
Broad-based gait, Depression, Neuronal loss in basal ganglia, Ventriculomegaly, Gait ataxia, Irri... ORPHA:248111
Limb Body Wall Complex
Progressive congenital scoliosis, Broad hallux, Abnormality of the vertebral column, Myelomeningo... ORPHA:2369
Richieri-Costa/Guion-Almeida Syndrome
Hypotelorism, Deeply set eye, Brachycephaly, Spina bifida occulta, Iris coloboma OMIM:268850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Waardenburg Syndrome Type 3
Spastic paraplegia, Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneou... ORPHA:896
49,Xxxxy Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Hypoplasia of the corpus callosum, Down-sloping... ORPHA:96264
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Heterotaxy, Chronic bronchitis, Recurre... OMIM:613807
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Cry... OMIM:618316
Semilobar Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:220386
Alobar Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:93926
Lobar Holoprosencephaly
Depressed nasal ridge, Single naris, Proboscis, Hypotelorism, Hydrocephalus, Abnormal heart rate ... ORPHA:93924
Holoprosencephaly 7
Hypoplastic nasal septum, Alobar holoprosencephaly, Hypertelorism, Bifid nose, Absent nasal septa... OMIM:610828
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Aplastic clavicle, Micromelia, Hypoplasia of the brainstem, Polymic... OMIM:616546
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Hypertelorism OMIM:245552
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Depression, Lateral ventricle dilatation, Periventricular leukomalacia, Atax... OMIM:615889
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment ORPHA:324422
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Glycine Encephalopathy 1
Agenesis of corpus callosum, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restless... OMIM:605899
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... OMIM:604213
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic iliac wing, Long hallux, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Short neck, Spina bifida,... OMIM:616038
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Myelomenin... OMIM:613686
Trisomy 13
High, narrow palate, Abnormal lung lobation, Cryptorchidism, Hypotelorism, Deeply set eye, Ventri... ORPHA:3378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Paraplegia, Genu valgum, Talipes equinova... OMIM:271640
Stormorken Syndrome
Howell-Jolly bodies, Stroke-like episode, Hypotelorism, Deeply set eye, Subarachnoid hemorrhage, ... OMIM:185070
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Muenke Syndrome
Coronal craniosynostosis, Capitate-hamate fusion, Broad thumb, Clinodactyly, Short middle phalanx... OMIM:602849
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly, Progressive microcephaly, Hype... OMIM:613402
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis ORPHA:2010
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Talipes equinovarus, Hydrocephalus, Postaxia... OMIM:612284
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Inability to w... OMIM:620317
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Ventriculomegaly, Reduced cerebral white matter volume, Hippocampal atrophy, Aggress... OMIM:301107
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Kyphosis, Short middle phalanx of finger, Joint st... ORPHA:1005
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Oligodactyly, Abnormality of the wris... ORPHA:1307
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Vertebral segmentation defect, Cerebellar hypoplasia, Microcephaly, Talipes equinovar... OMIM:612530
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Proboscis Lateralis
Choanal atresia, Proptosis, Chorioretinal coloboma, Optic disc coloboma, Proboscis, Hypertelorism... ORPHA:141099
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Platyspondyly, Flared metaphysis, Carpal syno... OMIM:615349
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Trigonocephaly, Hypotelorism ORPHA:3366
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Nail-Patella Syndrome
Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,... OMIM:161200
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Cryptorchidism, Hypertelorism, Microphthalmia, Anal atre... OMIM:249000
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Deeply set eye ORPHA:3204
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Patent ductus arteriosus, Dextrocardia, High palate, Anal atresia, Anterior hypop... ORPHA:2863
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Neutropenia, Hypertelorism, Anem... OMIM:618067
Sweeney-Cox Syndrome
Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Median cleft pal... OMIM:617746
Endocrine-Cerebroosteodysplasia
Sandal gap, Focal polymicrogyria, Preaxial polydactyly, Micromelia, Fibular bowing, Absent septum... OMIM:612651
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal calvaria morphology, Patent ductus arteriosus, Hypotelorism ORPHA:1952
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle, At... OMIM:179613
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, 2-3 toe syndactyly, Microcephaly, Radioulnar synostosis, Vertebr... OMIM:614701
Arachnoid Cyst
Sciatica, Cranial nerve compression, Tetraparesis, Spinal arachnoid cyst, Lower limb pain, Enceph... ORPHA:2356
Halperin-Birk Syndrome
Optic atrophy, Spastic tetraplegia, Semilobar holoprosencephaly, Umbilical hernia, Pseudobulbar p... OMIM:618651
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Trigonocephaly With Short Stature And Developmental Delay
High palate, Hypotelorism, Ventricular septal defect OMIM:314320
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Calcification of... OMIM:109400
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Plagiocephaly, Anteverted nares, Prominent occiput, Hypotelorism, Deeply s... OMIM:618672
Frontoocular Syndrome
Proptosis, Hypotelorism, Atrial septal defect, High palate, Pulmonic stenosis OMIM:605321
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent... OMIM:185700
Trigonocephaly-Short Stature-Developmental Delay Syndrome
High palate, Hypotelorism, Ventricular septal defect ORPHA:3369
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Spasticity, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... ORPHA:468631
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Abnormal vertebral morphology, Micr... OMIM:600383
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Hydrocephalus, Microphthalmia, Asplenia, Hypoplastic spleen OMIM:602361
Adams-Oliver Syndrome 4
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ... OMIM:615297
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... OMIM:256520
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Ta... OMIM:620371
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Abnormal anterior horn cell morphology, Cerebral atrophy, Facial diple... OMIM:611890
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Dominant 74
Prominent nose, Hypotelorism, Deeply set eye, Brachycephaly, Hypertelorism OMIM:620688
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overriding aorta, Double... ORPHA:3304
Trisomy 1Q
Cryptorchidism, Hypotelorism, Ventricular septal defect, Anophthalmia, Hydrocephalus, Hypertelori... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Hydromyelia, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissenceph... OMIM:615287
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Lateral ventricle dilatation, Overlapping fingers, Hypoplasia of the corpus callo... OMIM:618291
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jej... OMIM:164280
Trisomy 20P
Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger,... ORPHA:261318
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Holoprosencephaly,... OMIM:202650
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Ventricular septal defect, P... OMIM:613759
Stxbp1-Related Encephalopathy
Inability to walk, Dysplastic corpus callosum, Cerebral white matter atrophy, Hyperactivity, Ataxia ORPHA:599373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis... ORPHA:508498
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ... OMIM:614019
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis, Areflexia of lower limbs, Hyporeflexia of lower lim... OMIM:608634
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Abnormal heart morphology, Decreased testicular size, Cryptorchidis... OMIM:300978
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Wildervanck Syndrome
Pseudopapilledema, Short neck, Meningocele, Facial palsy, Fused cervical vertebrae ORPHA:3456
Verheij Syndrome
Short 5th finger, Clinodactyly, Cerebral atrophy, Branchial cyst, Joint hypermobility, Microcepha... OMIM:615583
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Tetralogy of Fallot, Cryptorchidism, Hydrocephalus, Hypertelorism ORPHA:250994
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Microphthalmia, Pericardial effusion, Cleft... OMIM:613885
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus to... ORPHA:991
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Developmental And Epileptic Encephalopathy 87
Bulbous nose, Prominent nose, Hypotelorism, Hypertelorism OMIM:618916
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Cerebral cortical atrophy, Periventricular white matter hyperintensities, Attention deficit hyper... OMIM:301008
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Decreased calvarial ossification, Bowing of ... OMIM:619879
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ta... ORPHA:221120
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis, Areflexia of lower limbs, Hyporeflexia of lower lim... OMIM:158590
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... OMIM:218600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... OMIM:150250
Neu-Laxova Syndrome
Osteomalacia, Cerebral calcification, Broad foot, Opisthotonus, Large hands, Osteopenia, Rickets,... ORPHA:2671
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Brachydactyly, Hyperlordo... ORPHA:710
Cutis Laxa, Autosomal Recessive, Type Iib
Bulbous nose, Hypotelorism, Deeply set eye, Narrow nasal ridge, Hydrocephalus, Hypertelorism, Fro... OMIM:612940
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Cerebral subcortical cyst, Gait ataxia, Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis ORPHA:35099
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Hypotelorism, Deeply set eye, Hypertelorism, F... OMIM:613604
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Giacheti Syndrome
Hypotelorism OMIM:612917
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Vascular ... OMIM:603387
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchi... OMIM:249270
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Pachygyria, Aggressive behavi... OMIM:619827
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of ... ORPHA:268882
Sirenomelia
Absence of the sacrum, Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Neonatal death, Talipes, Talipe... OMIM:108720
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Radial he... OMIM:146510
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Bilateral single transverse palmar creases, Short neck, Scoliosis, Ky... ORPHA:3191
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Cardiospondylocarpofacial Syndrome
Abnormal form of the vertebral bodies, Synostosis of carpal bones, Brachydactyly, Short palm ORPHA:3238
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Deeply set eye, Coarctation ... OMIM:618929
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphade... OMIM:614034
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hypotelorism, Microphthalmia, Hepatomegaly, High palate OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Shoulder girdle muscle weakness, Elbow contracture, Microcephaly, Abnormal cerebral wh... OMIM:606612
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... ORPHA:980
Aprosencephaly Syndrome
Finger aplasia, Aprosencephaly, Anencephaly OMIM:207770
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Aicardi Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Block vertebrae, Lateral ventricle dilatation, Optic... OMIM:304050
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Encephalocele, Agenesis of corpus callosum, Limited elbo... OMIM:134780
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Central Neurocytoma
Depression, Cerebral calcification, Abnormal lateral ventricle morphology, Lethargy, Hydrocephalu... ORPHA:73256
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Spinal dysraphism, Absence of the sacrum, Butterfly vertebrae, Tal... OMIM:617660
Trigonocephaly 1
Wide nasal bridge, Trigonocephaly, Hypotelorism, Craniosynostosis, Short nose OMIM:190440
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcephaly, Short ... OMIM:617854
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Lower limb asymmetry, Sandal gap, Scoliosis, Tethered cord OMIM:612918
Intellectual Developmental Disorder, Autosomal Recessive 5
Wide nasal bridge, Underdeveloped nasal alae, Prominent nose, Prominent nasal bridge, Hypoteloris... OMIM:611091
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Semilobar holoprosencephaly, Prominent occiput, Hypotelorism, ... ORPHA:556955
Microphthalmia/Coloboma 10
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Isolated Exencephaly
Depressed nasal bridge, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Proptosis, ... ORPHA:563612
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Memory impairment, Lateral ventricle dilatation, Neurofibrillary tangl... OMIM:607485
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect, Hypertelorism, Glossoptosis, Cleft palate ORPHA:1388
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Aplasia/Hypoplasia of the thu... OMIM:184705
Jacobsen Syndrome
Annular pancreas, Chorioretinal coloboma, Microphthalmia, Cryptorchidism, Ventricular septal defe... OMIM:147791
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Abnormal lung lobation, Intestinal malrotation, Abnormalit... ORPHA:2538
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Single... ORPHA:915
Multiple Synostoses Syndrome 4
Overlapping toe, Broad foot, Pes planus, Brachydactyly, Tarsal synostosis OMIM:617898
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec... OMIM:614294
Li-Campeau Syndrome
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Gastrointestinal dysmotility, At... OMIM:619189
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Coloboma... OMIM:618652
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Abnormal heart morphology, Cryptorchidism, Truncus arteriosus, Ventricula... ORPHA:401935
Cranioectodermal Dysplasia
Anteverted nares, Prominent occiput, Hypotelorism, Dolichocephaly, Craniosynostosis, Frontal bossing ORPHA:1515
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Syringomyelia, Persis... ORPHA:477817
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Agenesis of corpus callosum, Microcephaly, Aplasi... ORPHA:96176
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Wide nasal bridge, Depressed nasal ridge, Proptosis, Encephalocele, Exencephaly, Brachycephaly, H... ORPHA:2211
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Mosaic Variegated Aneuploidy Syndrome 2
Abnormal lung lobation, Decreased response to growth hormone stimulation test, Hypotelorism, Deep... OMIM:614114
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Hypoplasia of the ra... ORPHA:3412
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Hypotelorism, Hypertelorism OMIM:613192
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Congenital Rubella Syndrome
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:290
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Plagiocephaly, Anteverted nares, Hypotelorism, Hydrocephalus, Hypertelori... OMIM:617822
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Frontometaphyseal Dysplasia
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move... ORPHA:1826
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Absent... OMIM:236680
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Small basal ganglia, Facial diplegia, Hypoplasia of the corpus callosum, Knee f... OMIM:616286
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Proptosis, Bulbous nose, Hypotelorism, Turricephaly, Brachycephaly, Hypertelor... OMIM:613174
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Pes cavus, Claw han... OMIM:605285
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Hypotelorism, Narrow nasal ridge, Brachycephaly, Hypertelorism, Frontal bossing OMIM:219150
2Q23.1 Microduplication Syndrome
Bulbous nose, Prominent nasal tip, Prominent nose, Hypotelorism ORPHA:313947
Cat Eye Syndrome
Chorioretinal coloboma, Ventricular septal defect, Atrial septal defect, Rectal atresia, Hypertel... OMIM:115470
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Hypotelorism, Ventricular... ORPHA:2209
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Gait ataxia, Aggressive ... ORPHA:98818
Lethal Congenital Contracture Syndrome 8
Pes cavus, Facial diplegia, Neonatal death, Distal arthrogryposis, Vocal cord paralysis, Flexion ... OMIM:616287
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o... ORPHA:2326
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Pancytopenia, Microphth... OMIM:227646
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Lateral Meningocele Syndrome
Dural ectasia, Kyphosis, Umbilical hernia, Sclerosis of skull base, Biconcave vertebral bodies, J... OMIM:130720
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Long nasal bridge, Hypotelorism, Deeply set eye OMIM:162100
Menkes Disease
Spasticity, Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Chorea, Joint hypermobility, Bowi... ORPHA:565
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi... OMIM:612561
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Vitamin K Antagonist Embryofetopathy
Choanal atresia, Depressed nasal bridge, Proptosis, Myelomeningocele, Anteverted nares, Hydroceph... ORPHA:1914
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Alg3-Cdg
Osteopenia, Arthrogryposis multiplex congenita, Hypoplasia of the pons, Hypoplasia of the corpus ... ORPHA:79321
Cloacal Exstrophy
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Inability to walk, Ataxia OMIM:618276
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect OMIM:253300
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Broad nasal tip, Hypotelorism OMIM:619719
Kbg Syndrome
Delayed skeletal maturation, Persistent open anterior fontanelle, Finger clinodactyly, Single tra... ORPHA:2332
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Periventricular white matter hyperintensities, Aggressive behavior, Microcephal... OMIM:619470
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Deeply set eye, Hypertelorism, Pulmonic stenosis ORPHA:251076
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morphology, Syringomyel... ORPHA:261197
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypo... ORPHA:163966
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis, Cryptorchidism ORPHA:3303
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Cirrhosis, Atrial septal def... ORPHA:101028
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu... OMIM:601927
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... OMIM:185900
Monosomy 13Q14
Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of the thu... ORPHA:1587
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Brachycephaly, Hypotelorism ORPHA:1387
Marden-Walker Syndrome
High, narrow palate, Pulmonary hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocard... OMIM:248700
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Narrow nasal bridge, Hypotelorism, Flat occiput ORPHA:2511
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, ... OMIM:214800
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakn... ORPHA:99948
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Distal Deletion 10Q
Wide nasal bridge, Proptosis, Prominent nose, Prominent nasal bridge, Hypotelorism, Brachycephaly... ORPHA:96148
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Cerebral atrophy, Ataxia OMIM:615924
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Tetrasomy 15Q26
Hypoplastic aortic arch, Syringomyelia, Hydrocephalus, Atrial septal defect, Hypertelorism, High ... OMIM:614846
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Weyers Acrofacial Dysostosis
Hypotelorism OMIM:193530
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Hypotelorism OMIM:618718