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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
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Acalvaria
Holoprosencephaly, Hypertelorism, Spina bifida, Hydrocephalus, Calvarial skull defect ORPHA:945
Humero-Radial Synostosis
Meningocele, Tarsal synostosis, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormality of ... ORPHA:3265
Frontal Encephalocele
Hypertelorism, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebral c... ORPHA:1931
Holoprosencephaly 5
Depressed nasal bridge, Lobar holoprosencephaly, Trigonocephaly, Holoprosencephaly, Hypotelorism,... OMIM:609637
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Adducted thumb, Abnormality of the diencephalon, Holoprosencephaly, Aplasia/Hypo... ORPHA:2570
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... ORPHA:957
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Distal Monosomy 13Q
Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Abnormal form of ... ORPHA:1590
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Abdominal situs inversus, Atrioventricular canal defect, Double outlet right ventri... OMIM:605376
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Microcephaly, Multiple joint contractures OMIM:306990
Holoprosencephaly 3
Depressed nasal bridge, Holoprosencephaly, Short columella, Hypotelorism, Proboscis, Abnormality ... OMIM:142945
Neural Tube Defects, Susceptibility To
Anencephaly, Myelomeningocele, Asymmetry of spinal facet joints, Absence of the sacrum, Sacral di... OMIM:182940
Ring Chromosome 21 Syndrome
Narrow palm, Holoprosencephaly, Small hand, Syndactyly, Thoracic hemivertebrae, Spasticity, Scoli... ORPHA:1445
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Macrocephaly, Limited elbow extension, Tapered finger OMIM:300706
Nevus Comedonicus Syndrome
Toe syndactyly, Abnormal foot morphology, Abnormal vertebral morphology, Finger syndactyly, Preax... ORPHA:64754
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Holoprosencephaly, Decreased response to growth hormone stimulation test, Cycl... OMIM:147250
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Situs inv... ORPHA:244
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly, Microcephaly, Cerebral cortical atrophy, Spasticity ORPHA:2523
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Asplenia OMIM:618948
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Progressive microcephaly, Irritability, Inability to walk, Cerebral atrophy, Hypop... OMIM:616657
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly, Hypertelorism, Proptosis, Cyclopia, Microcephaly ORPHA:2165
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Double outlet right ... OMIM:306955
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Adducted thumb, Holoprosencephaly, Hemiplegia/hemiparesis, Absent septum pellucidum, Hydrocephalu... ORPHA:2182
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Neonatal death, Arthrogryposis multiple... OMIM:236500
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Tricuspid atresi... OMIM:264480
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Patent ductus arteriosus, Dextrocardia, Ventricular septal de... OMIM:270100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Caudal interpedicular narrowing, Carpal ... OMIM:603546
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder, Hypoplasia of the corpus callosum, Microcephaly OMIM:618351
Hydrolethalus Syndrome 2
Anencephaly, Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Vissers-Bodmer Syndrome
Holoprosencephaly, Decreased head circumference, Tapered finger OMIM:619033
Craniotelencephalic Dysplasia
Optic atrophy, Arrhinencephaly, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Cerebella... ORPHA:1528
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Talipes, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Finger syn... ORPHA:1908
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Pulmon... OMIM:615415
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Carpal synostosis, Short foot, Hydrocephalus, Macroceph... ORPHA:53271
Distal Monosomy 7Q36
Optic atrophy, Holoprosencephaly, Symphalangism affecting the phalanges of the hand, Short neck, ... ORPHA:1636
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Hydranencephaly, Holoprosencephaly, Macrocephaly, Hydrocephalus OMIM:617967
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormal joint morphology, A... ORPHA:93351
Holoprosencephaly, Recurrent Infections, And Monocytosis
Tapered finger, Holoprosencephaly, Short finger, Microcephaly, Short toe, Agenesis of corpus call... OMIM:610680
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Holoprosencephaly, Hypotelorism, Frontal bossing, Microcephaly, Anteverte... OMIM:612530
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Hypoglossia With Situs Inversus
High palate, Asplenia, Situs inversus totalis, Microglossia, Polysplenia OMIM:612776
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar emi... OMIM:211960
Meckel Syndrome, Type 4
Meningocele, Dandy-Walker malformation, Anencephaly, Agenesis of cerebellar vermis, Bowing of the... OMIM:611134
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Schisis Association
Spina bifida, Micromelia, Anencephaly, Microcephaly ORPHA:63862
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... OMIM:186570
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal cranial nerve morphology, Abnormal vertebral segmen... ORPHA:2345
Dextrocardia
Dextrocardia, Abnormality of the spleen, Abnormal pulmonary situs morphology, Meckel diverticulum... ORPHA:1666
Holoprosencephaly 11
Holoprosencephaly, Hypotelorism, Proptosis, Agenesis of corpus callosum, Microcephaly OMIM:614226
Meckel Syndrome, Type 10
Sacral dimple, Anencephaly, Postaxial polydactyly OMIM:614175
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Asplenia, Annular pancre... ORPHA:210122
Proximal Symphalangism
Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos... ORPHA:3250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars... OMIM:271650
Microhydranencephaly
Athetosis, Hydranencephaly, Talipes equinovarus, Spastic tetraplegia, Pachygyria, Hypoplasia of t... OMIM:605013
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Polydactyly, Anencephaly, Bowing of the long bones, Posta... OMIM:603194
Cutis Laxa, Autosomal Recessive, Type Iib
Large fontanelles, Hypotelorism, Hypertelorism, Narrow nasal ridge, Frontal bossing, Microcephaly... OMIM:612940
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Irregular epiphyses, Flattened femoral head, Genu varum, Abnormality of femur ... ORPHA:1822
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Abdominal situs inversus, Cleft palate, Asplenia, Atrioventricular can... OMIM:619123
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Congenital Vertical Talus
Distal arthrogryposis, Lower extremity joint dislocation, Myelomeningocele, Rocker bottom foot, A... ORPHA:178382
Microform Holoprosencephaly
Midnasal stenosis, Holoprosencephaly, Short nose, Cyclopia, Hypotelorism, Iris coloboma, Narrow n... ORPHA:280200
Pelvis-Shoulder Dysplasia
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... ORPHA:2839
Mental Retardation, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Microphthalmia, Asplenia, Abn... ORPHA:99776
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Aplasia/Hypoplasia involving the nose, Absent nares, Cyclopia, Agenesis of cor... ORPHA:990
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... OMIM:610017
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Holoprosencephaly, Absent septum pellucidum, Short femur, Scoliosis OMIM:601357
Holoprosencephaly 2
Aplasia of the nose, Holoprosencephaly, Hypotelorism, Proboscis, Anterior pituitary agenesis, Mic... OMIM:157170
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Goiter, Bronchiectasis, Situs inversus totalis, Right aortic arch OMIM:617577
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inertia, Abnormal neuron morphology, Apathy, Bradykinesia, Shuffling gait, Falls, Short... ORPHA:412066
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnorm... ORPHA:1788
Hadziselimovic Syndrome
Ventricular septal defect, High palate, Ventricular hypertrophy, Hypotelorism, Anal atresia, Atri... OMIM:612946
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, S... ORPHA:1106
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Abnormality of the knee, Synostosis of joints, Abnormality of tibia mor... ORPHA:2496
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... OMIM:185750
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Craniosynostosis, Absent septum pellucidum, Cerebellar h... OMIM:218670
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Abnormality of the metaphysis, Platyspondyly, Kyphosis, Brachydactyly, Macroce... ORPHA:93274
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Short distal phalanx of finger, Microcephaly OMIM:601355
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Myelomeningocele, Abnormal vertebral segmentation and fusion,... ORPHA:90652
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Aggressive behavior, Abnormal corpus callosum morphology, Simplified gyral patter... OMIM:604317
Iniencephaly
Dandy-Walker malformation, Anencephaly, Myelomeningocele, Talipes equinovarus, Holoprosencephaly,... ORPHA:63259
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Cerebrooculonasal Syndrome
Brachycephaly, Short nose, Craniosynostosis, Prominent nasal bridge, Proboscis, Hypertelorism, Fr... OMIM:605627
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Craniosynostosis, Arthrogryp... OMIM:178110
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Cleft palate, Submucous cleft ... ORPHA:3426
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydranencephaly, Hypoplasia of the brainstem, Hydrocephalus, Flexion c... OMIM:225790
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microphthalmia, Hypotelorism, Anal atresia, Atrial septal defect ORPHA:3469
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Right aortic arch, Transp... OMIM:231060
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Aplasia Cutis Congenita
Toe syndactyly, Abnormality of bone mineral density, Facial palsy, Finger syndactyly, Spinal dysr... ORPHA:1114
Cousin Syndrome
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... OMIM:260660
6P22 Microdeletion Syndrome
Hypotelorism, Hydrocephalus, Deeply set eye, Patent ductus arteriosus ORPHA:251046
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Bowing of the long bones, Proximal placement of thumb... ORPHA:90650
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Craniosynostosis, Microcephaly, Short distal phalanx of finger, Delayed skelet... ORPHA:2163
Holoprosencephaly
Iris coloboma, Hydrocephalus, Anterior hypopituitarism, Cyclopia, Intestinal atresia, Deeply set ... ORPHA:2162
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Optic nerve d... OMIM:615287
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Chorioretinal coloboma, Iris coloboma OMIM:611638
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Alg13-Cdg
Cognitive impairment, Poor eye contact, Abnormal lateral ventricle morphology ORPHA:324422
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Cleft palate, Duodenal atresia, Septo-optic dysplasia, Double outlet r... OMIM:301043
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Spinal cord compression, Vertebral fusion, Microcephaly OMIM:251250
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal foot morphology, Abnormality of the spinal cord, Hydrocephalus, Foot pain, Increased lax... ORPHA:99947
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Situs inversus totalis, Unilateral vertebral artery hypoplasia, S... OMIM:613686
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Hartsfield Syndrome
Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Craniosynostosis, Split hand, Aplasia/... ORPHA:2117
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial foot polydactyly, Anencephaly, Postaxial hand polydactyly OMIM:611561
Microgastria-Limb Reduction Defects Association
Microgastria, Arrhinencephaly, Aganglionic megacolon, Asplenia, Abnormal lung lobation, Anophthal... OMIM:156810
Sheldon-Hall Syndrome
Tarsal synostosis, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, B... ORPHA:1147
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Syringomyelia,... OMIM:265380
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, Cubitus valgus, Scapular winging, Abnormal form of the vertebral b... ORPHA:1327
Multiple Synostoses Syndrome 3
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... OMIM:612961
Diprosopus
Anencephaly ORPHA:1681
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Cleft palate, Double outlet right ventricle, Hypertelorism, Pulmonic s... OMIM:220210
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Juvenile Huntington Disease
Dystonia, Dementia, Neuronal loss in basal ganglia, Bradykinesia, Ventriculomegaly, Hyperactivity... ORPHA:248111
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Symphalangism, Proximal, 1A
Tarsal synostosis, Proximal symphalangism of hands, Short 5th metacarpal, Metacarpophalangeal syn... OMIM:185800
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Ventriculomegaly, Hyperactivity, Progressive microcephaly, Ataxia, Hypo... OMIM:613402
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valga, Semilobar holoprosencep... OMIM:601370
Waardenburg Syndrome, Type 3
Cutaneous finger syndactyly, Aganglionic megacolon, Spastic paraplegia, Joint contracture of the ... OMIM:148820
Brachydactyly, Mononen Type
Aplasia of the distal phalanx of the 2nd finger, Absent distal phalanges, Proximal fibular overgr... OMIM:301940
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Triploidy
Meningocele, Hepatomegaly, Cleft palate, Abnormality of the gallbladder, Holoprosencephaly, Macro... ORPHA:3376
Muscle-Eye-Brain Disease
Meningocele, Optic atrophy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hypertonia, ... ORPHA:588
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Brachycephaly, Hypertelorism, Alobar holoprosencephaly, Dolichocephaly, Agenesis o... OMIM:615433
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Cerebel... OMIM:274000
Masa Syndrome
Adducted thumb, Talipes equinovarus, Paraplegia, Lower limb spasticity, Kyphosis, Pes cavus, Macr... OMIM:303350
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Stereotypy, Ataxia, Macroceph... OMIM:618709
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Amish Lethal Microcephaly
Optic atrophy, Limb hypertonia, Osteoporosis, Decreased skull ossification, Cerebellar vermis hyp... ORPHA:99742
Nievergelt Syndrome
Tarsal synostosis, Talipes equinovarus, Genu valgum, Mesomelia, Radial head subluxation, Metatars... OMIM:163400
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Hepatomegaly, Meningocele, Duodenal stenosis, Abnormal tricuspid valve morphology, ... ORPHA:1759
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Fused cervical vertebrae, Antec... OMIM:618469
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:186400
Ruvalcaba Syndrome
Cone-shaped epiphysis, Abnormality of the elbow, Small hand, Proximal placement of thumb, Synosto... ORPHA:3121
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Short nose, Hypertelorism, Hypotelorism, Umbilical hernia OMIM:613544
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Optic atrophy, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... OMIM:605282
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Pulmonary hypoplasia, Bile duct proli... OMIM:208540
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Anophthalmia, Coarctation... OMIM:601186
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Dysplastic corpus callosum, Poor eye contact, Ataxia, Inability to walk, Microcephaly OMIM:618276
Meckel Syndrome
Cleft palate, Microphthalmia, Pancreatic cysts, Asplenia, Anencephaly, Congenital hepatic fibrosi... ORPHA:564
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Abnormality of the optic disc, Comp... ORPHA:363417
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Limited elbow extension, Bu... OMIM:311300
Talonavicular Coalition
Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finger, Abnormality of the ankl... OMIM:186750
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Trisomy 18
Anencephaly, Holoprosencephaly, Short nose, Cyclopia, Hypertelorism, Iris coloboma, Abnormality o... ORPHA:3380
Anophthalmia Plus Syndrome
Hypertelorism, Iris coloboma, Spina bifida, Choanal atresia, Abnormal nasal morphology ORPHA:1104
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Depressed nasal ridge, Abnormal morphology of the olfactory bul... ORPHA:93924
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
White Forelock With Malformations
Hypertelorism, Atrial septal defect, Prominent veins on trunk OMIM:277740
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Broad nasal tip, Depressed nasal bridge, Holoprosencephaly, Hypotelori... ORPHA:250999
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Cryptorchidism,... OMIM:615524
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Anophthalmia, Esophageal atresia, P... ORPHA:77298
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormal foot morphology, Abnormality of the metaphysis, Osteolysis, Abnormali... ORPHA:1657
Holoprosencephaly 1
Aplasia of the nose, Hypotelorism, Proboscis, Ethmocephaly, Alobar holoprosencephaly, Midface ret... OMIM:236100
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Holoprosencephaly, Short nose, Anteverted nares, Cyclopia, Agenesis of co... ORPHA:261236
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Tetralogy of Fallot, Deeply set eye ORPHA:276422
Fountain Syndrome
Abnormal foot morphology, Metaphyseal dysplasia, Large hands, Abnormal form of the vertebral bodi... ORPHA:3219
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Holoprosencephaly, Hypotelorism, Absent gallbladder, Iris coloboma, Tetralogy of ... ORPHA:3186
Holoprosencephaly 4
Depressed nasal bridge, Hypotelorism, Depressed nasal tip, Semilobar holoprosencephaly, Absent na... OMIM:142946
Waardenburg Syndrome Type 3
Cutaneous finger syndactyly, Abnormality of the upper limb, Spastic paraplegia, Synostosis of car... ORPHA:896
Anencephaly 2
Anencephaly OMIM:619452
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Delayed skeletal maturation, Clinodactyly of the 5th... ORPHA:3268
Monosomy 18P
Holoprosencephaly, Kyphoscoliosis, Brachydactyly, Short neck, Microcephaly ORPHA:1598
Gorlin Syndrome
Plantar pits, Vertebral fusion, Vertebral wedging, Palmar pits, Hemivertebrae, Arachnodactyly, Hy... ORPHA:377
Hydrolethalus
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Postaxial hand polydactyly... ORPHA:2189
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Microcephaly OMIM:616311
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly, Preaxial foot polydactyly OMIM:245552
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Hypotelorism, Deeply set eye, Iris coloboma, Spina bifida occulta, Microcephaly OMIM:268850
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Ventriculomegaly, Polymicrog... OMIM:604213
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cav... OMIM:608978
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cleft palate, Microphthalmia, Abnormal lung lobation, Thyroid hypoplasia, Holoprosencephaly, Cycl... ORPHA:2166
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... OMIM:123150
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Asplenia, Bronchiectasis, Situs inversus totalis, Recurre... OMIM:244400
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Atrial septal defect, Hypotelorism, Patent ductus arteriosus OMIM:618974
Meckel Syndrome, Type 6
Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydactyly, Hand polydactyly OMIM:612284
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Meckel Syndrome, Type 1
Cleft palate, Patent ductus arteriosus, Splenomegaly, Iris coloboma, Accessory spleen, Vascular d... OMIM:249000
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Long phalanx of finger, Ankle flexion contracture, Long... OMIM:305620
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal foot morphology, Talipes equinovarus, Metacarpal synostosis, Elevated circulating follic... ORPHA:95699
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Talipes equinovarus, Kyphoscoliosis, Epiphyseal dysplasia, Platyspondyly, Hip dislocation, Carpal... OMIM:615349
Cerebrocostomandibular Syndrome
Meningocele, Hydranencephaly, Myelomeningocele, Kyphosis, Spina bifida, Porencephalic cyst, Cereb... ORPHA:1393
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Distal Symphalangism
Joint stiffness, Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, C... ORPHA:3248
Caudal Regression Sequence
Arrhinencephaly, Talipes equinovarus, Abnormal vertebral segmentation and fusion, Abnormal iliac ... ORPHA:3027
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of the lesser tro... OMIM:147891
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Hypertelorism, Patent ductus arteriosus... OMIM:618316
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arteriosus, Abnormal lung mor... ORPHA:185
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Deeply set eye, Cervical spina bifida OMIM:600122
Truncus Arteriosus
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... ORPHA:3384
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... OMIM:263540
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Cerebral atrophy, Mental deterioration OMIM:615924
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... ORPHA:66637
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Patent ductus arteriosus, Abnormal left ventricul... ORPHA:216694
49,Xxxxy Syndrome
Arrhinencephaly, Talipes equinovarus, Holoprosencephaly, Abnormality of epiphysis morphology, Pes... ORPHA:96264
Holoprosencephaly 7
Flat occiput, Fusion of the left and right thalami, Short nose, Hypotelorism, Iris coloboma, Fron... OMIM:610828
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Ventriculomegaly, Attention deficit hyperactivit... OMIM:608716
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Talipes equinovarus, Hand clenching, ... OMIM:611890
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormality of the elbow, Synostosis of carpal bones, Finger synd... ORPHA:1005
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries, Abdominal situs inversus OMIM:614779
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Large beaked nose, Metopic suture patent to nasal root, Trigonocephaly... ORPHA:3369
Chiari Malformation Type Ii
Opisthotonus, Myelomeningocele, Syringomyelia, Ataxia, Cervical myelopathy, Spina bifida, Hydroce... OMIM:207950
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Recurrent respiratory infections, Atrial septal defect OMIM:617744
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Trisomy 13
High, narrow palate, Ventricular septal defect, Cleft palate, Microphthalmia, Abnormal lung lobat... ORPHA:3378
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Abnormality of the pancreas,... ORPHA:1926
Czeizel-Losonci Syndrome
Myelomeningocele, Radial deviation of the thumb, 3-4 finger syndactyly, Thoracolumbar scoliosis, ... ORPHA:2437
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Heterotaxy, Recurrent pneumonia, Recu... OMIM:613807
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... ORPHA:500166
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hydrocephalus, Polymicrogyria, Short h... OMIM:218600
Pseudoarthrogryposis
Ankylosis, Limited elbow movement, Proximal tibial and fibular fusion OMIM:177300
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormality of femur morphology, Limb undergrowth, Abnormal form of the verteb... ORPHA:3429
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Developmental And Epileptic Encephalopathy 87
Prominent nose, Hypotelorism, Hypertelorism, Bulbous nose, Cerebral atrophy, Midface retrusion OMIM:618916
Caudal Duplication
Myelomeningocele, Abnormal sacrum morphology, Spinal cord lesion, Bifid sacrum, Spina bifida, Ver... ORPHA:1756
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis OMIM:611884
Proboscis Lateralis
Chorioretinal coloboma, Holoprosencephaly, Cyclopia, Hypertelorism, Abnormal corpus callosum morp... ORPHA:141099
Muenke Syndrome
Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, ... OMIM:602849
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, T... OMIM:183802
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Depressed nasal ridge, Brachycephaly, Hypotelorism, Hypertelorism, Thick corpus ca... OMIM:618672
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Ciliary Dyskinesia, Primary, 25
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Recurrent... OMIM:615482
Chromosome 13Q33-Q34 Deletion Syndrome
Dandy-Walker malformation, Anencephaly, Talipes equinovarus, Tapered finger, Small thenar eminenc... OMIM:619148
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Convex nasal ridge, Trigonocephaly, Hypotelorism, Wide nasal bridge, P... OMIM:314320
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Carpal synostosis, Abnormality of the wrist, Abnormality of the ankles ORPHA:2010
Agnathia-Otocephaly Complex
Cleft palate, Aglossia, Holoprosencephaly, Situs inversus totalis, Microglossia OMIM:202650
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, High palate, Patent ductus arteriosus, Anal atresia, Anterior hypopituitarism, Cryp... ORPHA:2863
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Double outlet right ventricle, Coarctation of aorta, Patent ductus art... OMIM:618164
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Single transverse palmar crease, Lobar holoprosencephaly, Hemivertebrae, Micr... OMIM:614701
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Pentalogy Of Cantrell
Anencephaly, Talipes, Aplasia/Hypoplasia of the radius, Split hand, Hydrocephalus, Abnormality of... ORPHA:1335
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pes planus, Pathologic fracture, Hip su... OMIM:271640
Short-Rib Thoracic Dysplasia 12
Broad palm, Anencephaly, Hypoplastic scapulae, Bowing of the legs, Holoprosencephaly, Short finge... OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Frequent falls, Achilles tendon contracture, Facial palsy, Shoulder girdle musc... OMIM:606612
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Recurrent respiratory ... OMIM:615067
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Stereotypy, Polymicrogyria, Camptodactyly of finger, Cerebral atrophy, Cerebellar hypoplasia, Cer... ORPHA:468631
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Bilateral single tra... ORPHA:1120
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Cerebellar vermis hy... OMIM:616546
Isolated Trigonocephaly
Trigonocephaly, Hypotelorism, Wide nasal bridge ORPHA:3366
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Limb Body Wall Complex
Short umbilical cord, Cutaneous finger syndactyly, Bilateral talipes equinovarus, Abnormality of ... ORPHA:2369
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Apert Syndrome
Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Megalencephaly, Synostosis of carpa... OMIM:101200
Spondylocarpotarsal Synostosis Syndrome
Talipes equinovarus, Capitate-hamate fusion, C2-C3 subluxation, Epiphyseal dysplasia, Pes planus,... OMIM:272460
Brachydactyly-Distal Symphalangism Syndrome
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Thoracolumbar scoliosis, ... OMIM:113450
Vacterl With Hydrocephalus
Arrhinencephaly, Hemivertebrae, Abnormal form of the vertebral bodies, Absence of the sacrum, Hyp... ORPHA:3412
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Agenesis of corpus callosum, Lethargy OMIM:605899
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Deeply set eye ORPHA:3204
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... ORPHA:1307
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Short 5th finger, Hip dislocation, Scoliosis, Cerebral atrophy, ... OMIM:615583
Endocrine-Cerebroosteodysplasia
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Postaxial pol... OMIM:612651
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism, Abnormality of calvarial morphology, Patent ductus arteriosus ORPHA:1952
Albinism-Deafness Syndrome
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism OMIM:300700
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankles ORPHA:1412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Holoprosencephaly, Exaggerated startle response, Lissencephaly, Pachygyria, Spinal... OMIM:253800
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Hyperlordosis, Camptodactyly of finger, Scoliosis,... ORPHA:1323
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Cleft palate, Hypertelorism, Abnormal cardiac septum morphology,... OMIM:614294
Arachnoid Cyst
Holoprosencephaly, Sciatica, Cranial nerve compression, Spinal cord compression, Posterior fossa ... ORPHA:2356
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Coarctation of aorta, Glossop... OMIM:616145
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Anencephaly, Abnormal sacrum morphology, Aplasia/Hypopla... ORPHA:887
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Alkuraya-Kucinskas Syndrome
Plagiocephaly, Depressed nasal bridge, Short nose, Hypotelorism, Hypertelorism, Hydrocephalus, Ap... OMIM:617822
Frontoocular Syndrome
High palate, Hypotelorism, Pulmonic stenosis, Atrial septal defect, Proptosis OMIM:605321
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Hypertelorism, Patent ductus arteriosus... OMIM:179613
Lethal Congenital Contracture Syndrome 7
Paralysis, Facial diplegia, Arthrogryposis multiplex congenita, Knee flexion contracture, Small b... OMIM:616286
Isolated Exencephaly
Depressed nasal bridge, Posterior pituitary agenesis, Holoprosencephaly, Anterior pituitary hypop... ORPHA:563612
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Abnormal aortic arch morphology, Ventricular septal defect... ORPHA:860
Waardenburg Syndrome Type 1
Meningocele, Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, W... ORPHA:894
Halperin-Birk Syndrome
Optic atrophy, Agenesis of corpus callosum, Talipes equinovarus, Pseudobulbar paralysis, Colpocep... OMIM:618651
Neu-Laxova Syndrome 1
Joint contracture of the hand, Small placenta, Finger syndactyly, Cerebellar hypoplasia, Pterygiu... OMIM:256520
Cardiac-Urogenital Syndrome
Dextrocardia, Patent urachus, Ventricular septal defect, Dysplastic tricuspid valve, Patent ductu... OMIM:618280
Mental Retardation, Autosomal Recessive 13
Hypotelorism, Hypertelorism, Wide nasal bridge, Secondary microcephaly, Hypoplasia of the corpus ... OMIM:613192
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Cervical cord compression, Metaphyseal irregularity, Genu recur... OMIM:177170
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Right aortic arch, Aortopulmonary collateral a... OMIM:618780
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Double outlet right ventricle, Hypertelorism, Pa... ORPHA:3304
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Pulmonary hypoplasia, Abnormal descen... ORPHA:99050
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Flat occiput, Depressed nasal ridge, Abnormal cortical gyration, Large fontanelles, Brachycephaly... ORPHA:2211
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus OMIM:619607
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Hypotelorism, Microcephaly OMIM:190440
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Basal Cell Nevus Syndrome
Plantar pits, Irregular ossification of hand bones, Vertebral fusion, Polydactyly, Palmar pits, V... OMIM:109400
Tonne-Kalscheuer Syndrome
Dysphagia, Abnormal heart morphology, Hypotelorism, Hypertelorism, Velopharyngeal insufficiency, ... OMIM:300978
Floating-Harbor Syndrome
Celiac disease, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial sept... OMIM:136140
Nail-Patella Syndrome
Talipes equinovarus, Quadriceps aplasia, Elongated radius, Pes planus, Biceps aplasia, Limited el... OMIM:161200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Abnormally large globe, Atrial septal defect, Hydroceph... OMIM:603387
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Anal atresia, Transposition of the great arteries, Hydr... OMIM:314390
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Cleft palate, High palate, Ventricular septal defect, Hypotelorism OMIM:617164
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... OMIM:113000
Jacobsen Syndrome
Pyloric stenosis, Ventricular septal defect, Microphthalmia, Chorioretinal coloboma, Annular panc... OMIM:147791
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:618063
Mucolipidosis Iv
Dystonia, Dysplastic corpus callosum, Progressive neurologic deterioration, Cerebral dysmyelinati... OMIM:252650
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Simplified gyral pattern, Periventricular white matter hyperintensities, Hyp... OMIM:619470
Unilateral Focal Polymicrogyria
Aggressive behavior, Impaired use of nonverbal behaviors, Intracerebral periventricular calcifica... ORPHA:268947
Mental Retardation, Autosomal Recessive 5
Underdeveloped nasal alae, Prominent nose, Hypotelorism, Hypertelorism, Wide nasal bridge, Promin... OMIM:611091
Gracile Bone Dysplasia
Microphthalmia, Asplenia, Aniridia, Ankyloglossia, Hydrocephalus, Hypoplastic spleen OMIM:602361
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lower limb asymmetry, Macrodactyly, Sandal gap, Tethered cord, Spinal dysraphism, Scoliosis OMIM:612918
Pseudoaminopterin Syndrome
Pes planus, Postaxial polydactyly, Sacrococcygeal pilonidal abnormality, Clinodactyly of the 5th ... ORPHA:221120
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Hyporeflexia of lower limbs, Areflexia of lower limbs, Paresis of extensor muscles of ... OMIM:608634
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... OMIM:619191
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Abnormality of the optic disc, Pes planus, Stereotypy, Broad hallux, Thoracic... ORPHA:508498
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Bronchiectasis, Situs inversus totalis, Recurrent respiratory i... OMIM:616037
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia, Hypoplasia of the corpus callosum, ... OMIM:300983
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Brachycephaly, Hypotelorism, Midface retrusion, Cerebral cortical atrophy... ORPHA:1387
Otofacioosseous-Gonadal Syndrome
Talipes equinovarus, Wormian bones, Genu valgum, Carpal synostosis, Delayed skeletal maturation, ... OMIM:601976
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Craniosynostosis 2
Brachyturricephaly, Brachycephaly, Trigonocephaly, Craniosynostosis, Hypotelorism, Frontal bossin... OMIM:604757
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Cerebral white matter hypoplasia, Hypotelorism, Pachygyria, Hypoplasia of the corpus callosum, Mi... OMIM:619091
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Craniosynostosis, Hypotelorism, Wide nasal bridge, Hypertelorism, Frontal bossing,... OMIM:613174
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
1Q21.1 Microduplication Syndrome
Hypertelorism, Tetralogy of Fallot, Hydrocephalus, Cryptorchidism, Gastroesophageal reflux ORPHA:250994
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Neu-Laxova Syndrome
Rickets, Polymicrogyria, Cerebellar hypoplasia, Pterygium, Osteomalacia, Abnormal cortical gyrati... ORPHA:2671
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Large fontanelles, Brachycephaly, Hypotelorism, Narrow nasal bridge, Delayed crania... ORPHA:2511
Trisomy 20P
Abnormal foot morphology, Talipes, Abnormal form of the vertebral bodies, Platyspondyly, Finger s... ORPHA:261318
Wildervanck Syndrome
Meningocele, Facial palsy, Fused cervical vertebrae, Short neck, Pseudopapilledema ORPHA:3456
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Cerebral atrophy, Anxiety, Hypoplasia of the corpus callosum, Microcephaly OMIM:616977
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Trisomy 1Q
Ventricular septal defect, Cleft palate, Anophthalmia, Hypotelorism, Hypertelorism, Patent ductus... ORPHA:261344
Giacheti Syndrome
Hypotelorism OMIM:612917
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Cervical cord compression, Rhizomelia, Platy... OMIM:607095
Stormorken Syndrome
Asplenia, Hypotelorism, Anemia, Howell-Jolly bodies, Thrombocytopenia, Deeply set eye OMIM:185070
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis, Hyporeflexia of lower limbs, Areflexia of lower limbs, Paresis of extensor muscles of ... OMIM:158590
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Depressed nasal ridge, Hypotelorism, Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Microcephaly OMIM:608747
Pallister-Hall Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Oligodactyly, Holoprosenc... OMIM:146510
Catel-Manzke Syndrome
Ventricular septal defect, Cleft palate, Hypertelorism, Glossoptosis, Atrial septal defect ORPHA:1388
Steinfeld Syndrome
Abnormality of the vertebral column, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thu... OMIM:184705
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Coarctation of aorta, Hypertelorism, Pulmonic stenosis, Hepatic steatosis, Atria... OMIM:614300
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Myelomeningocele, Short nose, Hypertelorism, Hydrocephalus, Proptosis, An... ORPHA:1914
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Persis... OMIM:617478
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Hepatomegaly, Arrhinencephaly, Truncus arteriosus, Microgastria, Perin... ORPHA:2538
Cardiospondylocarpofacial Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm ORPHA:3238
Rasmussen Subacute Encephalitis
Hemidystonia, Cerebral cortical hemiatrophy, Cognitive impairment, Subcortical cerebral atrophy, ... ORPHA:1929
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypotelorism, Depressed nasal bridge, Microcephaly OMIM:618500
Immunodeficiency 8
Hyperactivity OMIM:615401
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Kyphosis, Bilateral single transverse palmar creases, Short neck, Sco... ORPHA:3191
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Right aortic arch, Decreased t... OMIM:147770
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, ... ORPHA:290
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis OMIM:309630
Mesomelia-Synostoses Syndrome
Short umbilical cord, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of t... OMIM:600383
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Alg3-Cdg
Dandy-Walker malformation, Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral m... ORPHA:79321
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Recurrent respiratory infections OMIM:253300
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Cervic... OMIM:614034
Pagod Syndrome
Meningocele, Abnormality of the spleen, Abnormal aortic morphology, Situs inversus totalis, Pulmo... ORPHA:991
Brachydactyly Type A7
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... ORPHA:93397
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Pfeiffer Syndrome
Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Finger syndactyly,... ORPHA:710
Kbg Syndrome
Vertebral fusion, Short neck, Thoracic kyphosis, Delayed skeletal maturation, Scoliosis, Finger c... ORPHA:2332
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts OMIM:613095
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, High palate, Atrioventricular canal defect, Coarctation of aorta, Hypertelorism, De... OMIM:618929
Monosomy 13Q14
Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcephaly, Short neck, ... ORPHA:1587
Menkes Disease
Tarsal synostosis, Chondrocalcinosis, Chorea, Bowing of the long bones, Osteoporosis, Wormian bon... ORPHA:565
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizome... ORPHA:163966
Hypertelorism And Tetralogy Of Fallot
Hypertelorism, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pul... OMIM:239711
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Microcephaly, Autosomal Dominant
Hypotelorism, Microcephaly OMIM:156580
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Focal cortical dysplasia, Impaired social interaction... OMIM:610042
Distal Monosomy 10Q
Prominent nose, Brachycephaly, Short nose, Craniosynostosis, Wide nasal bridge, Prominent nasal b... ORPHA:96148
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Lethargy OMIM:274270
Absence Of The Pulmonary Artery
Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal coronary artery morpholog... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Periventricular white matter hyperintensities, Attention deficit hyperactivity dis... OMIM:301008
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Microphthalmia, Hypertelorism, Cardiomegaly, Patent ductus arteriosus,... OMIM:618652
Congenital Disorder Of Glycosylation, Type Iu
Cerebral white matter atrophy, Secondary microcephaly, Short nose, Hypotelorism OMIM:615042
Meacham Syndrome
Abnormality of the spleen, Conotruncal defect, Ventricular septal defect, Aplasia/Hypoplasia of t... ORPHA:3097
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, High palate, Microphthalmia, Hypotelorism OMIM:619053
Cln5 Disease
Dysmetria, Aggressive behavior, Periventricular white matter hyperintensities, Corpus callosum at... ORPHA:228360
Ciliary Dyskinesia, Primary, 2
Dextrocardia, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:606763
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Hypertelorism, Intestin... ORPHA:401935
Aicardi Syndrome
Dilated third ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Butt... OMIM:304050
Congenital Tracheomalacia
Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Bronchiectasis, Abnormal heart morpho... ORPHA:95430
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Cutis Laxa, Autosomal Recessive, Type Iiia
Large fontanelles, Brachycephaly, Hypotelorism, Hypertelorism, Wormian bones, Narrow nasal ridge,... OMIM:219150
Cranioectodermal Dysplasia
Craniosynostosis, Hypotelorism, Frontal bossing, Anteverted nares, Prominent occiput, Dolichocephaly ORPHA:1515
Maternal Phenylketonuria
Ventricular septal defect, High palate, Abnormal heart morphology, Double outlet right ventricle,... ORPHA:2209
Aminoacylase 1 Deficiency
Hyperactivity, Cerebral atrophy OMIM:609924
2Q23.1 Microduplication Syndrome
Prominent nasal tip, Prominent nose, Hypotelorism, Bulbous nose, Midface retrusion ORPHA:313947
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia, Absence of the sacrum ORPHA:3169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Hypoplasia of the corpus callosum OMIM:618090
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Developmental Delay With Or Without Dysmorphic Facies And Autism
Narrow nose, Depressed nasal bridge, Short nose, Hypotelorism, Prominent nasal bridge, Wide nasal... OMIM:618454
Li-Campeau Syndrome
Ventricular septal defect, Gastrointestinal dysmotility, Hypertelorism, Patent ductus arteriosus,... OMIM:619189
Aarskog-Scott Syndrome
Broad palm, Talipes, Abnormal vertebral segmentation and fusion, Small hand, Pes planus, Genu rec... ORPHA:915
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypotelorism, Simplified gyral pattern, Progressive microcephaly, Cerebral atrophy, Hypoplasia of... OMIM:615760
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Fanconi Anemia, Complementation Group D2
Neutropenia, Microphthalmia, Annular pancreas, Leukemia, Abnormal heart morphology, Hypotelorism,... OMIM:227646
Kniest Dysplasia
Short long bone, Laryngotracheomalacia, Coronal cleft vertebrae, Vertebral wedging, Delayed epiph... ORPHA:485
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Hypotelorism, Prominent occiput, Abnormality of the external nose, Semilobar h... ORPHA:556955
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Patent ductus arteriosus, Atrial septal defect, Hy... OMIM:614886
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Increased mean... OMIM:612561
Charge Syndrome
Arrhinencephaly, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, Retinal coloboma, Pa... OMIM:214800
Tarsal Coalition
Tarsal synostosis OMIM:186850
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Hypotelorism, Microcephaly OMIM:618718
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... OMIM:135100
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Fing... ORPHA:2311
Amyotrophy, Hereditary Neuralgic
Hypotelorism, Depressed nasal bridge, Deeply set eye, Long nasal bridge OMIM:162100
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Synostosis of carpal bones, Short 1st metacarpal, Short thumb, Sacra... ORPHA:2438
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limb... OMIM:300863
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Persistent left superior vena cava, Double outl... ORPHA:477817
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Anemia, Cirrhosis, Hepatosplenomegaly, Atrial se... ORPHA:101028
Phaver Syndrome
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Myelomeningocele, Ulnar deviation... ORPHA:2876
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Syndactyly, Vertebral arch anomaly, Thoracic kyphos... OMIM:148050
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Double outlet right ventricle, Pulmonar... ORPHA:2326
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Duodenal atresia, Abnormal lung lobation, Coarctation of aorta, Hypote... OMIM:614114
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Laryngotracheomalacia, Talipes, Absence of the sacrum, Hypoplastic sacrum, T... OMIM:617660
8P23.1 Duplication Syndrome
Ventricular septal defect, Hypertelorism, Pulmonic stenosis, Tetralogy of Fallot, Deeply set eye ORPHA:251076
Multiple Synostoses Syndrome 4
Tarsal synostosis, Pes planus, Overlapping toe, Broad foot, Brachydactyly OMIM:617898
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Blepharocheilodontic Syndrome 1
Choanal atresia, Hypertelorism, Neural tube defect OMIM:119580
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Marden-Walker Syndrome
Dextrocardia, Pyloric stenosis, High, narrow palate, Cleft palate, High palate, Microphthalmia, H... OMIM:248700
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Hypertelorism, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Sweeney-Cox Syndrome
Cleft palate, High palate, Asplenia, Hypertelorism, Anal atresia, Bilateral cryptorchidism, Gastr... OMIM:617746
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Pes planus, Toe clinodactyly, Limit... ORPHA:457395
Familial Congenital Mirror Movements
Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Fused cervical vertebrae, Poor fine mo... ORPHA:238722
Central Neurocytoma
Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification, Lethargy ORPHA:73256
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Hypoparathyroidism, Cleft palate, Umbilical h... OMIM:192430
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Ventriculomegaly, Hyperactivity, Broad-based gait, Hypoplasia of the corpus ... ORPHA:457260
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Proptosis ORPHA:3303
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome