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Gene: Axin1 MGI:1096327

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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:
axin 1
Synonyms:
N/A

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 Axin1 mutations

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

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

The table below shows human diseases associated to Axin1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Sandwich appearance of vertebral bodies OMIM:620558
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550

The table below shows human diseases predicted to be associated to Axin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... OMIM:122600
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, Abnormal ri... ORPHA:1797
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc... ORPHA:3268
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Short thorax, Sacral dimple, Vertebral segmentation defect OMIM:618845
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... ORPHA:163665
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates, Scoli... OMIM:184255
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... ORPHA:64755
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, B... ORPHA:40
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Low-set ears, Long penis, Scoliosis, Abnormal sacrum morphology,... ORPHA:1988
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis ORPHA:93304
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Accelerated skeletal maturation, Abnormal ri... ORPHA:1354
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Short thorax, Camptodactyly of finger, Rib segmentation ab... ORPHA:2311
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... ORPHA:2790
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... ORPHA:1801
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Interverte... OMIM:609223
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Symbrachydactyly Of Hands And Feet
Scoliosis, Abnormality of the humeroulnar joint, Vertebral segmentation defect ORPHA:1570
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscol... ORPHA:313892
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends ORPHA:168555
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Pectus carinatum, Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal ... OMIM:178110
Kuskokwim Syndrome
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia/Hyp... ORPHA:1149
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... ORPHA:1394
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... OMIM:259440
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Lower Limb Malformation-Hypospadias Syndrome
Macrotia, Abnormal tibia morphology, Abnormality of the ureter, Low-set, posteriorly rotated ears... ORPHA:2487
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... ORPHA:1836
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Synostosis of carpal bones, Spina bifida occulta at L5, Spina bifi... OMIM:102510
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive ... ORPHA:261197
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Hamstring contractures, Kyphoscoliosis, Short neck, Elbow ankylosi... ORPHA:96183
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Scoliosis, Abnormal form of the vertebral bodies, Decreased skull ossification ORPHA:3319
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc... ORPHA:2635
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral... OMIM:312150
Craniosynostosis 6
Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal... OMIM:616602
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Talipes equinovarus, Short neck, High palate, Short foot, Hypospadias, ... OMIM:611209
Epiphyseal Dysplasia, Multiple, 6
Schmorl's node, Intervertebral disk calcification, Osteoarthritis, Abnormality of the knee, Knee ... OMIM:614135
Ring Chromosome 21 Syndrome
Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Ventricular septal defect, Atrial septal defect, Short stature, Frontal bossing OMIM:618330
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Genu valgum, Verteb... ORPHA:85198
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus OMIM:614688
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Genu valgum, Pectus excavatum, En... ORPHA:166024
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral... OMIM:253290
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Osteoporotic tarsals, Costochondral joint sc... OMIM:609052
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Kbg Syndrome
Persistent open anterior fontanelle, Delayed skeletal maturation, Cervical ribs, Short neck, Vert... ORPHA:2332
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Rib fusion, Vertebral fusion, Anterior rib cupp... ORPHA:377
Pentasomy X
Short stature, Plagiocephaly, Delayed puberty, Abnormal cardiac septum morphology ORPHA:11
Congenital Muscular Dystrophy, Fukuyama Type
Plagiocephaly, Dilated cardiomyopathy, Intrauterine growth retardation, Brachycephaly, Dolichocep... ORPHA:272
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Recurrent urinary tract infections, Intestin... ORPHA:2970
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... OMIM:265000
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... OMIM:615220
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... OMIM:187760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:606612
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Greenberg Dysplasia
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica... ORPHA:1426
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... ORPHA:2916
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis OMIM:607155
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Cervical spondylosis, Osteoarthritis, Spina bifida occulta OMIM:184300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Gómez-López-Hernández Syndrome
Short stature, Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o... ORPHA:3266
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:485
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... OMIM:616549
Kleefstra Syndrome 2
Plagiocephaly, Growth delay OMIM:617768
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... ORPHA:90650
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing OMIM:619264
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... OMIM:184100
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Delayed ... OMIM:156530
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Thoracic hypoplasia, Anterior rib cupping, Scoliosis OMIM:602271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Knee dislocation, Joint hypermobility, Narr... OMIM:618395
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Arthrogryposis multiplex c... ORPHA:2990
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosis OMIM:255710
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Brachycephaly, Occipital encephalocele OMIM:614416
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Pterygium, Elbow f... OMIM:259450
Verheij Syndrome
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation OMIM:615583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited e... OMIM:271650
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ventricular septal defect ORPHA:94066
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Hemivertebrae, Vertebral fusio... OMIM:206900
Lessel-Kreienkamp Syndrome
Plagiocephaly, Scaphocephaly, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, ... OMIM:619149
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm... ORPHA:93351
Lamb-Shaffer Syndrome
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae ORPHA:530983
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly ORPHA:178377
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... OMIM:146510
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Plagiocephaly, Bicuspid aortic valve, Brachycephaly, Atrial septal defect... OMIM:619721
Axial Mesodermal Dysplasia Spectrum
Abnormal localization of kidney, Gastroesophageal reflux, Abnormality of the urinary system, Abno... ORPHA:1834
Kbg Syndrome
Delayed skeletal maturation, Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral a... OMIM:148050
Cebalid Syndrome
Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly OMIM:618774
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Brachycephaly, Growth delay ORPHA:2528
Craniofacial Dyssynostosis With Short Stature
Brachyturricephaly, Ventricular septal defect, Brachycephaly, Hydrocephalus, Short stature, Abnor... OMIM:218350
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck, Abnormal rib mor... ORPHA:1486
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Brachycephaly OMIM:309545
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... OMIM:135100
Neurogenic Arthrogryposis Multiplex Congenita
Abnormal heart morphology, Scaphocephaly, Plagiocephaly ORPHA:1143
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Pectus carinatum, Motor stereotypy, Aggressive behavior, Posteriorly rotated ears, ... OMIM:609425
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, High palate, Short neck... ORPHA:1703
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput ORPHA:46
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Joint hypermobility, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel ... OMIM:213980
Aarskog-Scott Syndrome
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,... ORPHA:915
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Broad ribs, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... OMIM:612852
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... OMIM:619350
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Short stature, Craniosynostosis OMIM:618265
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Posterior plagiocephaly, Secundum atrial septal defect ORPHA:96190
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio... OMIM:272460
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Cupped ribs, Beaking of v... OMIM:609616
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, S... ORPHA:50
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missing ribs, Hypoplastic vertebral bodies, Sc... ORPHA:3027
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Advanced tarsal ossification, Short ribs, Generalize... OMIM:215045
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Plagiocephaly, Patent foramen ovale OMIM:618821
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Short stature, Cloverleaf skull OMIM:602849
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Bicu... OMIM:617751
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Decreased skull ossification, Short ne... ORPHA:93267
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Chromosome 3Q13.31 Deletion Syndrome
Dolichocephaly, Brachycephaly, Plagiocephaly OMIM:615433
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... OMIM:305620
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Unilambdoid synostosis OMIM:618577
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Dolichocephaly, Brachycephaly, Plagiocephaly, Prominent occiput OMIM:618672
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Cervical ribs, Preaxial hand polydactyly, Urinary bladder... OMIM:601389
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sep... ORPHA:500159
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Brachycephaly OMIM:300699
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Patent foramen ovale, Brachycephaly, Transposition of the great arteries, Frontal ... OMIM:616789
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... OMIM:203500
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Deviation of finger, Round ear ORPHA:1450
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Generalized joint hypermobility, Cervical C2/... OMIM:618000
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Narrow chest, 11 pairs of ribs, Hemivertebrae, Vertebral segmentation defect OMIM:617661
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sep... ORPHA:369891
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pectus excavatum OMIM:619122
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, T... ORPHA:1913
Coffin-Siris Syndrome 6
Short stature, Plagiocephaly, Frontal bossing, Atrial septal defect OMIM:617808
Non-Distal Duplication 10Q
Short stature, Brachycephaly, Frontal bossing ORPHA:1695
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Frontal bossing OMIM:616801
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Tapered toe, Celiac disease, Macrotia, Sensorineural hearing impairment,... ORPHA:544488
Band Heterotopia
Plagiocephaly OMIM:600348
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Houge-Janssens Syndrome 3
Plagiocephaly, Umbilical hernia, Muscular ventricular septal defect, Atrial septal defect, Fronta... OMIM:618354
Smith-Magenis syndrome
Motor stereotypy, Brachydactyly, Self-mutilation, Hyperactivity DECIPHER:8
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormal rib morphology, ... ORPHA:2180
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, H... OMIM:304050
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Cog1-Cdg
Posterior rib gap, Osteopenia, Butterfly vertebrae, Vertebral segmentation defect, Kyphoscoliosis... ORPHA:263508
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis, Vertebral compression fracture, Kyphosis, Bone pain ORPHA:85193
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa... ORPHA:1507
Mosaic Trisomy 20
Narrow chest, Spinal canal stenosis, Vertebral segmentation defect, Down-sloping shoulders, Limit... ORPHA:1724
Diastrophic Dysplasia
Joint dislocation, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae, Elbow d... ORPHA:628
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly, Secundum atrial septal defect, Transposition of the great arteries OMIM:619910
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Radioulnar synostosis, Abnormal rib morp... ORPHA:2319
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Osteopenia, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasi... ORPHA:168549
Basal Cell Nevus Syndrome 1
Vertebral wedging, Abnormal sternum morphology, Short ribs, Supernumerary ribs, Kyphoscoliosis, D... OMIM:109400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... ORPHA:2759
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t... ORPHA:2869
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility OMIM:617333
Craniodigital-Intellectual Disability Syndrome
Short stature, Spina bifida occulta, Brachycephaly ORPHA:1514
Cornelia De Lange Syndrome 2
Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Brach... OMIM:300590
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly OMIM:619927
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Enuresis, Inflexible adherence to routines, Aggressive behavior, Attenti... OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 26
Short stature, Brachycephaly, Intrauterine growth retardation, Umbilical hernia OMIM:615834
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... OMIM:151200
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly OMIM:618603
Bardet-Biedl Syndrome 8
Brachycephaly, Situs inversus totalis OMIM:615985
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... OMIM:619227
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Growth delay OMIM:308350
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing OMIM:600325
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Clavicular sclerosis, Metaca... OMIM:144750
Larsen Syndrome
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow disloca... OMIM:150250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Arachnodactyly, Talipes equinovarus, Short hal... ORPHA:280
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Short stature, Brachycephaly, Plagiocephaly OMIM:618862
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Plagiocephaly ORPHA:544469
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput OMIM:618736
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Toe syndactyly, Abnorm... ORPHA:474
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Megarectum, Duplicated collecting system, Postaxial foot polydactyly, Hearing impai... OMIM:301056
Craniofrontonasal Dysplasia
Craniosynostosis, Brachycephaly, Plagiocephaly, Frontal bossing ORPHA:1520
6Q25 Microdeletion Syndrome
Short stature, Plagiocephaly ORPHA:251056
Developmental And Epileptic Encephalopathy 65
Plagiocephaly OMIM:618008
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Ankle pain, Premature osteoarthritis, Limited hip movement, G... ORPHA:93311
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Small hand, Cutaneous finger syndactyly, Sensorineural hearing impairment, Talipes ... OMIM:235510
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
White Forelock With Malformations
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... ORPHA:2475
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... ORPHA:582
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Ulnar deviation of the wrist... OMIM:253000
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Horizontal ribs, Short ribs, Trident acetabulum, Lateral clavicle... OMIM:617405
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Craniosynostosis, Patent ductus art... ORPHA:171839
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Genu valgum, Delayed pubic b... OMIM:184250
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hearing impairment, Abnormality of the lower urinary t... ORPHA:101009
Lateral Meningocele Syndrome
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... OMIM:130720
Congenital Disorder Of Glycosylation, Type Iiy
Brachycephaly OMIM:620200
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow ex... OMIM:608728
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Spina bifida occulta, Scoliosis ORPHA:64754
Cat-Eye Syndrome
Hearing impairment, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Abnormal rib morpholo... ORPHA:195
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly OMIM:615516
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Postnatal growth retardation, Intrauterine growth retardation, Tri... OMIM:613792
1P36 Deletion Syndrome
Sensorineural hearing impairment, Abnormal intestine morphology, Polyphagia, Abnormality of the k... ORPHA:1606
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Aplasia/Hypoplasia of the patella, Genu varum, Patellar dislocation, Scoliosis, Hi... ORPHA:3320
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, Atrial septal defect, ... OMIM:618142
Osteogenesis Imperfecta, Type Iii
Thin ribs, Kyphosis, Bowing of limbs due to multiple fractures, Biconcave vertebral bodies, Decre... OMIM:259420
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Generalized osteoporos... OMIM:617952
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Aggressive behavior, Hallux valgus, Hyperactivity, Anteverted ears, Motor stereot... OMIM:615541
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... OMIM:166210
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Spinal canal stenosis ORPHA:93476
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Thoracic hypoplasi... ORPHA:93352
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Limited hip movement, Abnormally ossified vertebrae... ORPHA:93346
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly ORPHA:77300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Conductive hearing impairment, Renal agenesis, Abnormality of the vert... OMIM:601076
Koolen-De Vries Syndrome
Hip dislocation, Joint hypermobility, Vertebral segmentation defect, Pectus excavatum, Vertebral ... ORPHA:96169
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Turricephaly OMIM:601224
Robinow Syndrome
Low-set ears, Multicystic kidney dysplasia, Ankyloglossia, Micropenis, Mesomelic arm shortening, ... ORPHA:97360
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Recurrent fractures, Joint hypermobility, Wormian bones, A... ORPHA:2050
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly OMIM:617481
Craniosynostosis, Herrmann-Opitz Type
Intrauterine growth retardation, Turricephaly, Brachycephaly, Short stature, Craniosynostosis ORPHA:2145
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Postnatal growth retardation, Ventricular septal defect, Brachycephaly, Doub... OMIM:179613
Kleefstra Syndrome Due To A Point Mutation
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Brachycephaly, Short stature ORPHA:261652
8Q12 Microduplication Syndrome
Brachycephaly, Atrial septal defect, Ventricular septal defect ORPHA:228399
Potocki-Shaffer Syndrome
Brachycephaly, Delayed puberty, Parietal foramina ORPHA:52022
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Delayed skeletal maturation, Limited elbow extension, Genu ... OMIM:602111
Trisomy 13
High, narrow palate, Low-set ears, Narrow chest, Abnormal helix morphology, Abnormality of the mi... ORPHA:3378
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Intrauterine growth retardation, Calvarial skull defect, Encephalocele,... ORPHA:228390
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Humeroradial synostosis, Talipes equinovarus, Radioulnar synostosis... OMIM:134780
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossificat... OMIM:269250
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing OMIM:264470
Bresek Syndrome
Intrauterine growth retardation, Plagiocephaly, Growth delay ORPHA:85284
Phaver Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Pterygium, Joint stiffness, Butte... ORPHA:2876
Holt-Oram Syndrome
Abnormal clavicle morphology, Joint stiffness, Down-sloping shoulders, Radioulnar synostosis, Spr... ORPHA:392
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short stature, Plagiocephaly OMIM:618089
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Hypoplastic acetabulae, Abno... ORPHA:239
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly OMIM:618731
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont... OMIM:177170
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Intrauterine growth retardation OMIM:620688
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar... ORPHA:251992
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Diaphyseal undertubulatio... ORPHA:1513
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Abnormal rib morphology, Short neck, Short thorax ORPHA:93298
Intellectual Developmental Disorder, Autosomal Dominant 52
Pectus carinatum, Lumbar hyperlordosis, Lumbar scoliosis, Cervical C2/C3 vertebral fusion, Scapul... OMIM:617796
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures... OMIM:616229
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2021
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndacty... ORPHA:3082
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Brachycephaly, Short stature, Frontal bossing ORPHA:1488
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hypos... OMIM:194190
Atelosteogenesis, Type I
Narrow chest, Elbow dislocation, Thoracic hypoplasia, Knee dislocation, Thoracic platyspondyly, 1... OMIM:108720
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Abnormal mitral valve morphol... ORPHA:1292
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Short stature, Brachycephaly ORPHA:320385
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Muenke Syndrome
Coronal craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:53271
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, 11 pairs of ribs, Platyspondyly, Decreased skull ossification OMIM:300863
Congenital Heart Defects And Ectodermal Dysplasia
Atrioventricular canal defect, Brachycephaly, Frontal bossing OMIM:617364
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Brachycephaly, Intrauterine growth retardation, Spina bifida ORPHA:1327
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Short stature, Craniosynostosis, Brachycephaly, Frontal bossing ORPHA:314575
German Syndrome
Tetralogy of Fallot, Brachycephaly, Abnormal cardiac septum morphology, Short stature, Dolichocep... ORPHA:2077
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly OMIM:615419
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Sensorineural hearing impairment, Hydronephrosis,... ORPHA:2838
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Finge... ORPHA:887
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Plagiocephaly, Intrauterine growth retardation, Prominent occiput, Ventricular septal defect, Atr... OMIM:617360
Cardiospondylocarpofacial Syndrome
Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis, Herniation of inte... OMIM:157800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Anterior plagiocephaly, Atrial septal defect, Left unicoronal synostosis, Growth d... OMIM:614749
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Short stature, Brachycephaly OMIM:309541
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Intrauterine growth retardation, Plagiocephaly, Frontal bossing ORPHA:371364
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Brachycephaly OMIM:615031
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Gastroesophageal reflux, Scoliosis OMIM:617393
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Clinodactyly, Large fleshy ears, Thoracic kyphosis, Overfolded helix, Arachnodactyl... OMIM:619092
Lopes-Maciel-Rodan Syndrome
Small hand, Scoliosis, Bruxism, Motor stereotypy, Short foot, Dysphagia, Kyphosis, Agitation OMIM:617435
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620141
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:618430
3M Syndrome
Thin ribs, Congenital hip dislocation, Delayed skeletal maturation, Enlarged thorax, Increased ve... ORPHA:2616
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Ventricular septal defect, Atrial septal defect, Short stature, Craniosynostosis, ... ORPHA:457193
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Joint hypermobility, Decreased... ORPHA:2097
Smith-Magenis Syndrome
Abnormality of the outer ear, Abnormality of the urinary system, Head-banging, Velopharyngeal ins... OMIM:182290
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Thoracolumbar kyphosis, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia... OMIM:615633
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Delayed cranial suture closure, Joint hypermobility, S... ORPHA:2484
Zttk Syndrome
Low-set ears, Unilateral renal agenesis, Small hand, Bifid uvula, Cervical ribs, Horseshoe kidney... OMIM:617140
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Abnormal diaphysis morphology, Camptodactyly ... ORPHA:3409
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Joint hypermo... OMIM:602196
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Displacement of the urethral meatus, Hydronephro... ORPHA:1727
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria OMIM:252920
Fraser Syndrome 2
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenes... OMIM:617666
Malan Overgrowth Syndrome
Scaphocephaly, Plagiocephaly, Frontal bossing ORPHA:420179
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Cranios... OMIM:604757
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic... OMIM:252930
Penoscrotal Transposition
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Abnormal... ORPHA:2842
Postaxial Acrofacial Dysostosis
Low-set ears, Pyloric stenosis, Cupped ear, Short thumb, Supernumerary vertebrae, Conductive hear... OMIM:263750
Cornelia De Lange Syndrome 6
Low-set ears, Pectus carinatum, Gastroesophageal reflux, Short 1st metacarpal, Macrotia, Down-slo... OMIM:620568
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis OMIM:617190
X-Linked Intellectual Disability, Sutherland-Haan Type
Short stature, Brachycephaly ORPHA:93950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Short toe, Anteriorly placed anus, Hearing impairment, Delayed os... OMIM:239300
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyph... OMIM:616294
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Multiple rib fractures, Short neck, Short thorax,... ORPHA:93299
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Plagiocephaly, Atrial septal defect, Flat occiput OMIM:619383
Even-Plus Syndrome
Severe short stature, Brachycephaly, Atrial septal defect, Patent foramen ovale OMIM:616854
Faciocardiorenal Syndrome
Endocardial fibroelastosis, Tricuspid valve prolapse, Plagiocephaly ORPHA:1973
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Abnormal antihelix morphology, Aplas... ORPHA:235
Cri-Du-Chat Syndrome
Low-set ears, Hearing impairment, Overfriendliness, Short neck, Abnormality of the kidney, High p... OMIM:123450
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicusp... ORPHA:457279
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Small hand, Short foot, Motor stereotypy OMIM:615282
Faciodigitogenital Syndrome, Autosomal Recessive
Abnormal rib cage morphology, Down-sloping shoulders, Hyperextensible hand joints, Camptodactyly,... OMIM:227330
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder, Repe... ORPHA:352490
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy, Gastroesophageal reflux, Scoliosis OMIM:618218
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, A... ORPHA:459061
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:223800
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Brachycephaly, Hypertrophic cardiomyopathy ORPHA:70472
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Foxg1 Syndrome
Gastroesophageal reflux, Bruxism, Stereotypical hand wringing, Kyphoscoliosis, Paroxysmal bursts ... ORPHA:561854
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Intrauterine growth retardation, Plagiocephaly OMIM:619833
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Carpal syno... ORPHA:90652
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Wormian bones, Flat acetabular roof, Fused cervical vertebrae OMIM:617159
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Hypoplasia... OMIM:613390
Baller-Gerold Syndrome
Abnormal vertebral morphology, Low-set ears, Carpal synostosis, Patellar aplasia, Perineal fistul... OMIM:218600
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly OMIM:618859
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias, Chronic otitis ... ORPHA:276422
Acrorenal-Mandibular Syndrome
Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... OMIM:200980
Koolen-De Vries Syndrome
Kyphosis, Spondylolisthesis, Joint hypermobility, Pectus excavatum, Vertebral fusion, Scoliosis, ... OMIM:610443
Galloway-Mowat Syndrome 4
Short stature, Plagiocephaly OMIM:617730
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Persistent open anterior fontanelle, Ovoid vertebral bodies OMIM:620601
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Cer... ORPHA:79345
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Disproportionate short-limb short ... OMIM:618644
3Q29 Microdeletion Syndrome
Low-set ears, Pectus carinatum, Gastroesophageal reflux, Horseshoe kidney, Aggressive behavior, A... ORPHA:65286
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Polyphagia, High palate, Shor... OMIM:607872
17Q12 Microduplication Syndrome
Abnormal vertebral morphology ORPHA:261272
Pierpont Syndrome
Short stature, Brachycephaly OMIM:602342
Pseudodiastrophic Dysplasia
Severe short stature, Brachycephaly, Rhizomelia, Frontal bossing OMIM:264180
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Bicuspid aortic valve, Plagiocephaly, Frontal bossing, Atrial septal defect OMIM:619720
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, Atrial septal defect, ... OMIM:617452
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Bifid sacrum, Renal hypoplasia/aplasia, Verteb... ORPHA:1756
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ... OMIM:620073
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Frontal bossing, Hydrocephalus, Turricephaly ORPHA:93262
Intellectual Disability-Strabismus Syndrome
Short stature, Intrauterine growth retardation, Plagiocephaly, Atrial septal defect ORPHA:363528
4Q21 Microdeletion Syndrome
Self-injurious behavior, Low-set ears, Small hand, Toe syndactyly, Micromelia, Hearing impairment... ORPHA:238750
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect ORPHA:3004
Smith-Magenis Syndrome
Self-injurious behavior, Toe syndactyly, Gastroesophageal reflux, Abnormal form of the vertebral ... ORPHA:819
Mucopolysaccharidosis Type 6
Broad ribs, Joint stiffness, Genu valgum, Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Crouzon Syndrome
Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing ORPHA:207
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Umbilical hernia OMIM:616579
Cenani-Lenz Syndrome
Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Abnormal form of the vertebr... ORPHA:3258
Chromosome 6Pter-P24 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Brachycep... OMIM:612582
Frontonasal Dysplasia 2
Parietal foramina, Intrauterine growth retardation, Calvarial skull defect, Encephalocele, Anteri... OMIM:613451
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Fg Syndrome Type 1
Plagiocephaly, Umbilical hernia, Prominent occiput, Mitral valve prolapse, Atrial septal defect, ... ORPHA:93932
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Frontal bossing OMIM:619293
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column OMIM:276950
Osteogenesis Imperfecta, Type X
Thin ribs, Osteopenia, Platyspondyly, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum,... OMIM:613848
Ritscher-Schinzel Syndrome 4
Short stature, Brachycephaly, Plagiocephaly OMIM:619435
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... ORPHA:268882
Renpenning Syndrome
High, narrow palate, Macrotia, Clinodactyly of the 5th finger, Abnormal thumb morphology, Sensori... ORPHA:3242
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Microphthalmia, Lenz Type
Self-injurious behavior, Hydroureter, Abnormal clavicle morphology, Finger syndactyly, Camptodact... ORPHA:568
Osteogenesis Imperfecta, Type Viii
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Barrel-shaped chest, Decreased skull ossification... OMIM:610915
Pontocerebellar Hypoplasia, Type 3
Short stature, Brachycephaly OMIM:608027
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Plagiocephaly, Atrial septal defect ORPHA:251061
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Patent foramen ovale, Frontal bossing, Mitral valve prolapse OMIM:615539
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Frontal bossing, Anterior plagiocephaly ORPHA:163649
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Ulnar deviation of the wrist, Joint stiffness,... OMIM:253010
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly OMIM:620149
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Tetralogy of Fallot, Ven... OMIM:201000
Houge-Janssens Syndrome 2
Plagiocephaly OMIM:616362
Pierpont Syndrome
Brachycephaly ORPHA:487825
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Intrauterine growth retardation, Brachycephaly, Short stature, Frontal bossing OMIM:219150
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormally ossified vertebrae, Abnorm... ORPHA:1318
Laurence-Moon Syndrome
Short stature, Brachycephaly ORPHA:2377
Potocki-Lupski Syndrome
Gastroesophageal reflux, Hearing impairment, Oral-pharyngeal dysphagia, Abnormal renal morphology... OMIM:610883
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Aortic valve stenosis, Facial hyperostosis, Thickened calvaria, Brachycepha... ORPHA:2780
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Growth delay OMIM:619188
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias ORPHA:1046
Clark-Baraitser Syndrome
Dolichocephaly, Brachycephaly OMIM:617752
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, Atrial septal defect, ... ORPHA:505237
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth reta... ORPHA:453499
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Abnormality of the ureter,... ORPHA:52
Noonan Syndrome 13
Plagiocephaly, Atrial septal defect, Mitral valve prolapse OMIM:619087
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Brachycephaly, Growth delay, Ventricular septal defect ORPHA:3306
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Christianson Syndrome
Gastroesophageal reflux, Inappropriate laughter, Abnormal thorax morphology, Motor stereotypy, Ad... ORPHA:85278
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Platyspondyly, Hypoplasia of the odontoid process, Delayed skeletal maturation, Kyphos... OMIM:300232
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly OMIM:619972
Mosaic Trisomy 8
Narrow chest, Hearing impairment, Camptodactyly of finger, Macrotia, Vesicoureteral reflux, Patel... ORPHA:96061
Al Kaissi Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly, Atrial septal defec... OMIM:617694
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Pectus carinatum, Gastroesophageal reflux, Prominent fingertip pads, Rec... OMIM:300986
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Hydroureter, Meckel diverticulum, Dilatation ... OMIM:265380
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Compulsive behaviors, Rectal prolapse ORPHA:209964
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:617296
48,Xxyy Syndrome
Gastroesophageal reflux, Abnormal shoulder morphology, Radioulnar synostosis, Motor stereotypy, A... ORPHA:10
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Thoracic hypopla... OMIM:613091
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Limitation of joint mobility, Delayed skeletal maturation, Hyperlordosis, Abnor... ORPHA:3068
Dysosteosclerosis
Platyspondyly, Osteopenia, Narrow chest, Sclerosis of hand bone, Broad ribs, Sclerosis of skull b... OMIM:224300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Sandal gap, Clinodactyly of the 5th finger, Overfolded helix, 2-3 toe sy... OMIM:617061
Frontometaphyseal Dysplasia
Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing... ORPHA:1826
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Trisomy 20P
Plagiocephaly, Umbilical hernia, Brachycephaly, Spina bifida, Dolichocephaly, Frontal bossing ORPHA:261318
Poland Syndrome
Abnormality of the outer ear, Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of t... ORPHA:2911
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Abno... ORPHA:500
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Low-set, posteriorly rotated ears, Abnor... ORPHA:1035
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Richieri-Costa/Guion-Almeida Syndrome
Short stature, Spina bifida occulta, Brachycephaly OMIM:268850
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Abnormal clavicle morphology, Butter... ORPHA:958
Williams-Beuren Region Duplication Syndrome
Short stature, Hydrocephalus, Brachycephaly, Patent ductus arteriosus OMIM:609757
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Esophagitis, Perineal fistula, Renal hypoplasia/aplasia, Abnormal m... ORPHA:2538
Fibrochondrogenesis 1
Thin ribs, Platyspondyly, Joint contracture of the hand, Hypoplastic scapulae, Thoracic hypoplasi... OMIM:228520
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
Cat Eye Syndrome
Low-set ears, Anal stenosis, Meckel diverticulum, Volvulus, Renal agenesis, Hearing impairment, H... OMIM:115470
Silver-Russell Syndrome 1
Urethral valve, Abnormality of the ureter, Nephroblastoma, Hepatocellular carcinoma, Clinodactyly... OMIM:180860
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Severe short stature, Brachycephaly, Flat occiput ORPHA:2511
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Low-set ears, Thoracic hypoplasia, Flared metaphysis, Large fleshy ears, Decreased... OMIM:616897
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactivity disorder, High p... OMIM:618825
Gm1-Gangliosidosis, Type I
Joint stiffness, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis... OMIM:230500
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Dysplastic pulmonary valve OMIM:300958
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Abnormality of the outer ear, Broad thumb, Broad hallux, O... ORPHA:435638
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Low-set ears, Vesicoureteral reflux, Motor stereotypy, Posteriorly rotat... OMIM:613174
Cornelia De Lange Syndrome 5
Short stature, Postnatal growth retardation, Brachycephaly OMIM:300882
Three M Syndrome 2
Thin ribs, Pectus carinatum, Delayed skeletal maturation, Lumbar hyperlordosis, Short neck, Hyper... OMIM:612921
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad ribs, Wormian bones, Increased bone mineral density, Vertebral arch anomaly ORPHA:85184
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Brachycephaly, Atrial septal def... OMIM:610759
Anauxetic Dysplasia 3
Severe short stature, Plagiocephaly OMIM:618853
Dihydropyrimidinase Deficiency
Plagiocephaly, Growth delay OMIM:222748
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bladder polyp, Intussusception, Abnormality of t... OMIM:175200
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Short stature, Patent ductus arteriosus ORPHA:2095
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly ORPHA:352530
Chromosome 17P13.1 Deletion Syndrome
Plagiocephaly, Umbilical hernia, Turricephaly, Brachycephaly, Spina bifida OMIM:613776
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Brachycephaly ORPHA:1387
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Hallux valgus, Hyperactivity, Pectus excavat... OMIM:614104
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Urinary incontinence, Restlessness, M... OMIM:600795
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Long fingers, Pectus excavatum, Mo... OMIM:301029
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs OMIM:200610
2Q32Q33 Microdeletion Syndrome
Short stature, Brachycephaly, Growth delay ORPHA:251019
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Gomez-Lopez-Hernandez Syndrome
Skull asymmetry, Turricephaly, Brachycephaly, Short stature, Craniosynostosis OMIM:601853
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Plagiocephaly OMIM:617822
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodies, Increased ... ORPHA:2769
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Unilateral renal agenesis, Bifid uvula, Gastroesophageal reflux, Absent thumb, Hear... ORPHA:500150
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hearing impairment, 11 pairs of ribs, Tracheoesophageal fistula, E... ORPHA:77298
Kury-Isidor Syndrome
Frontal bossing, Brachycephaly, Growth delay, Ventricular septal defect OMIM:619762
Chopra-Amiel-Gordon Syndrome
Short stature, Postnatal growth retardation, Brachycephaly OMIM:619504
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Frontal bossing, Prominent occiput, Biparietal narrowing, Growth delay ORPHA:2612
Intellectual Developmental Disorder, Autosomal Dominant 58
Short stature, Plagiocephaly OMIM:618106
Cantú Syndrome
Platyspondyly, Narrow chest, Delayed skeletal maturation, Broad ribs, Cuboid-shaped vertebral bod... ORPHA:1517
Frontofacionasal Dysplasia
Short stature, Brachycephaly, Encephalocele ORPHA:1791
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Plagiocephaly, Growth delay, Abnormal parietal bone morphology ORPHA:247262
Chromosome 15Q11.2 Deletion Syndrome
Short stature, Plagiocephaly, Abnormal heart morphology OMIM:615656
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Atresia of the external auditory canal, Auricular tag... ORPHA:672
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Dextrotransposition of the great arteries, Brachycephaly, Ventricular septal defect OMIM:619995
ERI1-related disease
Abnormal heart morphology, Trigonocephaly, Intrauterine growth retardation, Ventricular septal de... OMIM:608739
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Scoliosis OMIM:618906
Chromosome 2Q37 Deletion Syndrome
Short stature, Brachycephaly, Subvalvular aortic stenosis OMIM:600430
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Brachycephaly, Frontal bossing, Atrial septal defect OMIM:608776
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Platyspondyly, Hypoplastic acetabulae, Butterfly vertebrae, Short ribs, De... OMIM:620076
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly OMIM:605282
Menkes Disease
Short stature, Brachycephaly, Intrauterine growth retardation OMIM:309400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Dolichocephaly, Plagiocephaly, Tricuspid valve prolapse, Umbilical hernia ORPHA:1101
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic hypoplasia, Thoracic platyspon... OMIM:618019
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Lujan-Fryns Syndrome
Brachycephaly, Atrial septal defect ORPHA:776
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... OMIM:252600
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Brachyturricephaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiom... OMIM:300280
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Clinodactyly of the 5th finger, Proteinuria, Paroxysmal burst... OMIM:618347
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hydronephrosis... OMIM:314390
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Secundum atrial septal defect, Frontal bossing OMIM:608688
Microphthalmia, Syndromic 1
Low-set ears, Clinodactyly, Hearing impairment, Recurrent otitis media, Renal hypoplasia/aplasia,... OMIM:309800
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Frontal bossing, Brachyturricephaly OMIM:607597
Xq28 (MECP2) duplication
Gastroesophageal reflux, Functional abnormality of the bladder, Dysphagia, Motor stereotypy, Macr... DECIPHER:45
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... OMIM:184253
Contractural Arachnodactyly, Congenital
Scaphocephaly, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Brachycep... OMIM:121050
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att... OMIM:618342
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Plagiocephaly, Growth delay OMIM:615471
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Lumbar hyperlordosis, Genu valgum, Short ribs, Joint hypermobility, Carpal bo... OMIM:250420
Developmental And Epileptic Encephalopathy 84
Plagiocephaly OMIM:618792
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aplasia of the 1st metacarpal, Unilateral radial aplasia, Clinodactyly of the 5th finger, Partial... ORPHA:476126
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist... ORPHA:73230
Prune Belly Syndrome
Pectus carinatum, Hydroureter, Xerostomia, Hydronephrosis, Talipes equinovarus, Pectus excavatum,... OMIM:100100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Plagiocephaly, Growth delay, Frontal bossing OMIM:617193
Neurofaciodigitorenal Syndrome
Short stature, Brachycephaly, Intrauterine growth retardation, Plagiocephaly ORPHA:2673
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Brachycephaly, Hydrocephalus OMIM:109120
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Frontal bossing OMIM:615828
Desanto-Shinawi Syndrome
Brachycephaly OMIM:616708
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal burst... OMIM:618718
Kleefstra Syndrome
Self-injurious behavior, Gastroesophageal reflux, Hearing impairment, Vesicoureteral reflux, Rena... ORPHA:261494
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Conductive hearing i... ORPHA:1001
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, Atrial septal defect, ... ORPHA:254346
Restrictive Dermopathy 2
Short clavicles, Gastroesophageal reflux, Rectal prolapse OMIM:619793
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly, Growth delay, Ventricular septal defect OMIM:617798
Chromosome 13Q33-Q34 Deletion Syndrome
Trigonocephaly, Encephalocele, Left ventricular hypertrophy, Brachycephaly, Short stature, Anence... OMIM:619148
Baller-Gerold Syndrome
Finger aplasia, Abnormal localization of kidney, Aplasia/Hypoplasia of the radius, Conductive hea... ORPHA:1225
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Dolichocephaly, Plagiocephaly ORPHA:2215
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Scoliosis, Motor stereoty... ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly OMIM:615761
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Clinodactyly of the 5th finger, Posteri... OMIM:618027
2Q23.1 Microdeletion Syndrome
Short stature, Brachycephaly, Growth delay ORPHA:228402
Monosomy 18P
Short stature, Brachycephaly, Holoprosencephaly ORPHA:1598
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, Scoliosis, Motor stereo... OMIM:620502
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Brachycephaly, Plagiocephaly ORPHA:500055
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly ORPHA:2063
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Plagiocephaly, Flat occiput ORPHA:300570
Cloacal Exstrophy
Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Abnormal tibia morphology, In... ORPHA:93929
Radio-Renal Syndrome
High, narrow palate, Multicystic kidney dysplasia, Micromelia, Renal agenesis, Abnormal form of t... ORPHA:3015
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Protruding tongue, Sensorineural hearing impairment, Talipes equinova... OMIM:301040
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand polydactyly,... ORPHA:2549
Cerebellar Ataxia-Hypogonadism Syndrome
Short stature, Brachycephaly ORPHA:1173
Marden-Walker Syndrome
Low-set ears, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Arachnodactyly, Radioulnar ... ORPHA:2461
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Delayed skeletal maturation, Accelerate... ORPHA:93317
Myhre Syndrome
Platyspondyly, Limitation of joint mobility, Broad ribs, Joint stiffness, Enlarged vertebral pedi... OMIM:139210
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Talipes equinovarus, Motor stereotypy, Attention deficit hyperactivity d... OMIM:617695
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ... OMIM:123500
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Acromelic Frontonasal Dysplasia
Brachycephaly, Meningocele, Encephalocele ORPHA:1827
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Generalized j... ORPHA:508498
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Brachycephaly OMIM:263210
Craniometadiaphyseal Dysplasia
Osteopenia, Broad ribs, Sclerosis of skull base, Genu valgum, Wormian bones, Cubitus valgus, Scol... OMIM:269300
Aredyld Syndrome
Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal tragus morphology, Brachyd... ORPHA:1133
Aica-Ribosiduria
Brachycephaly ORPHA:250977
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly OMIM:619680
Distal Deletion 3P
Umbilical hernia, Atrioventricular canal defect, Intrauterine growth retardation, Brachycephaly, ... ORPHA:1620
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Hypoplastic helices, Clubbing of toes, Abnormality of the urinary system, ... ORPHA:2437
Congenital Disorder Of Glycosylation, Type Iia
Abnormal rib cage morphology, Low-set ears, Macrotia, Protruding tongue, Self-mutilation, Stereot... OMIM:212066
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Hydrocephalus, Atrial septa... OMIM:207410
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Barrel-shaped chest, Decreased skull... OMIM:215140
Diphallia
Penoscrotal transposition, Renal malrotation, Absent thumb, Gastrointestinal duplication, Duplica... ORPHA:227
Opitz-Kaveggia Syndrome
Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Short stature, Frontal bossing OMIM:305450
Distal Deletion 10Q
Postnatal growth retardation, Brachycephaly, Atrial septal defect, Craniosynostosis, Short statur... ORPHA:96148
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Camptodactyly, Fl... ORPHA:3168
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Broad thumb, Gastrointestinal... ORPHA:79076
Aymé-Gripp Syndrome
Plagiocephaly, Postnatal growth retardation, Brachycephaly, Short stature, Craniosynostosis, Peri... ORPHA:1272
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dolichocephaly, Intrauterine growth retardation, Plagiocephaly, Frontal bossing OMIM:619005
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Patent foramen ovale, Ventricular septal defect, Proportionate short stature, Grow... OMIM:613457
Saethre-Chotzen Syndrome
Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:794
Acro-Renal-Ocular Syndrome
Vertebral fusion, Vertebral segmentation defect ORPHA:959
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
X-Linked Intellectual Disability, Wilson Type
Brachycephaly, Growth delay ORPHA:85290
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Thickened calvaria, Brachycephaly,... ORPHA:439822
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect ORPHA:87
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Cranial asymme... OMIM:614886
Hypophosphatasia
Craniosynostosis, Narrow chest, Recurrent fractures, Abnormal rib morphology ORPHA:436
Radiation Proctitis
Hematochezia, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnormal gastro... ORPHA:70475
Larsen-Like Syndrome
Short stature, Brachycephaly, Frontal bossing OMIM:608545
Schwartz-Jampel Syndrome
Abnormality of the ureter, Genu valgum, Bowing of the long bones, Talipes equinovarus, Short neck... ORPHA:800
Duane-Radial Ray Syndrome
Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae OMIM:607323
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Brachycephaly, Abnormal cardiac s... ORPHA:96147
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Frontal bossing ORPHA:85199
Radio-Tartaglia Syndrome
High, narrow palate, Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Hearin... OMIM:619312
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Cleidocranial Dysplasia
Hypoplastic scapulae, Hearing impairment, Genu valgum, Abnormal metacarpal morphology, Chronic ot... ORPHA:1452
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short stature, Postnatal growth retardation, Plagiocephaly OMIM:300749
Williams Syndrome
Genu valgum, Overfriendliness, Sensorineural hearing impairment, Radioulnar synostosis, Rectal pr... ORPHA:904
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly OMIM:620240
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Brachycephaly, Atrial septal defect, Craniosynostosis, Patent ductus arteriosus ORPHA:1790
Phelan-Mcdermid Syndrome
Gastroesophageal reflux, Hearing impairment, Macrotia, Bruxism, Vesicoureteral reflux, 2-3 toe sy... OMIM:606232
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ... ORPHA:233
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Camptodactyly of finger, Vertebral segmentation defect, Short neck, A... ORPHA:373
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Prominent fingertip pads, Clinodactyly of the 5th finger, High palate, M... OMIM:615637
Beck-Fahrner Syndrome
Cardiomegaly, Brachycephaly, Ventricular septal defect OMIM:618798
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Hip contracture, Camptodactyly, Pectus excavatum, ... OMIM:617137
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Gastroesophageal reflux, Recurrent otitis medi... ORPHA:449291
Kinsship Syndrome
Low-set ears, Renal hypoplasia, Gastroesophageal reflux, Cervical ribs, Horseshoe kidney, Ankylog... OMIM:619297
X-Linked Hypophosphatemia
Rachitic rosary, Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Enthesitis, G... ORPHA:89936
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus ca... OMIM:101200
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis, Cranial asymmetry ORPHA:137634
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Vesicovaginal fistula, Duplicat... OMIM:258040
Stevenson-Carey Syndrome
Brachycephaly, Atrial septal defect OMIM:611961
Cerebrocostomandibular Syndrome
Low-set ears, Bell-shaped thorax, Cleft soft palate, Short hard palate, High palate, Ectopic kidn... OMIM:117650
Kleefstra Syndrome 1
Gastroesophageal reflux, Hearing impairment, Protruding tongue, Talipes equinovarus, Abnormal ren... OMIM:610253
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Pyknoachondrogenesis
Abnormal intramembranous ossification, Unossified sacrum, Sclerosis of skull base, Horizontal rib... ORPHA:3003
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Dysplasia of the femoral head, Cone-shaped epiphysis of the 1st metac... OMIM:607778
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Scoliosis, ... ORPHA:319671
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Narrow palate, Hearing impairment, Rectal prolapse, Sensorineura... OMIM:303600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Skull asymmetry, Tetralogy of Fallot, Brachycephaly, Short stature, Lobar holoprosencephaly OMIM:614701
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Motor stereotypy... OMIM:618504
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Stereotypical hand wringing, Talipes equinovarus, Compulsive behaviors, ... OMIM:618917
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Hyperactivity,... OMIM:617600
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Clinodactyly, Hearing impairment, High palate, Motor stereotypy, Self-injurious beh... OMIM:620494
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly, Growth delay, Abnormal cardiac septum morphology OMIM:254940
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly OMIM:616083
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Plagiocephaly, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, T... OMIM:280000
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Arachnodactyly, Hypospadias, Duodenal atresia, Motor stereotypy, Macrotia, Gastro... ORPHA:464306
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperacti... OMIM:620292
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Brachycephaly, Ventricular septal defect ORPHA:404440
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Scoliosis OMIM:619317
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Short t... ORPHA:261344
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Abnormali... ORPHA:1770
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Recurrent urinary tract infections, Horseshoe kidney, Frequent temper... OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
2-3 toe cutaneous syndactyly, Low-set ears, Gastroesophageal reflux, Bruxism, Motor stereotypy, R... OMIM:300260
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Plagiocephaly, Growth delay ORPHA:496641
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Mesomelic short stature, Dolichocephaly ORPHA:2633
Gapo Syndrome
Frontal bossing, Plagiocephaly, Growth delay, Umbilical hernia OMIM:230740
Vater/Vacterl Association
Abnormal vertebral morphology, Radioulnar synostosis, Absent radius, Anal atresia, Ectopic kidney... OMIM:192350
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Renal hypoplasia, Cupped ear, Sandal gap, Joint contracture of the 5th f... OMIM:618914
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly OMIM:620224
Kyphomelic Dysplasia
Platyspondyly, Limitation of joint mobility, Thoracic hypoplasia, Pterygium, Undulate ribs, Anter... OMIM:211350
Raine Syndrome
Short stature, Brachycephaly, Plagiocephaly, Brachyturricephaly OMIM:259775
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Frontal bossing, Turricephaly OMIM:613603
Hallermann-Streiff Syndrome
Thin calvarium, Scaphocephaly, Proportionate short stature, Parietal bossing, Brachycephaly, Spin... OMIM:234100
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... ORPHA:798
Joubert Syndrome 1
Occipital myelomeningocele, Plagiocephaly OMIM:213300
Hurler Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Abnormal clavicle morphology, Campto... ORPHA:93473
White-Sutton Syndrome
Self-injurious behavior, Bifid uvula, Low-set ears, Gastroesophageal reflux, Broad thumb, Hypopla... OMIM:616364
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Scoliosis, Short toe, Kyphosis, ... ORPHA:464311
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Microglossia, Postaxial ... OMIM:263520
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormality of the ureter, Abnormal renal morphology... ORPHA:1666
9P13 Microdeletion Syndrome
Short stature, Brachycephaly, Umbilical hernia ORPHA:324313
Osteogenesis Imperfecta, Type Vii
Osteopenia, Narrow chest, Delayed cranial suture closure, Decreased calvarial ossification, Multi... OMIM:610682
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Postaxial foot polydactyly, Broad phalanges of the hand, Hypoplasia of the o... ORPHA:508533
Williams-Beuren Syndrome
Recurrent otitis media, Obsessive-compulsive trait, Sensorineural hearing impairment, Radioulnar ... OMIM:194050
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f... OMIM:101400
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly OMIM:261990
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly OMIM:218000
Rauch-Steindl Syndrome
Bilateral renal hypoplasia, Hyperechogenic kidneys, Prominent crus of helix, Protruding ear, Aggr... OMIM:619695
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Elbow dislocation, Genu valgum, Patellar aplasia, Aplas... OMIM:224690
Alg12-Cdg
Posterior plagiocephaly, Biventricular hypertrophy, Muscular ventricular septal defect, Intrauter... ORPHA:79324
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Bra... OMIM:245600
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
De Barsy Syndrome
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Ventricular sept... ORPHA:2962
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Adnp Syndrome
Plagiocephaly, Umbilical hernia, Trigonocephaly, Brachycephaly, Short stature ORPHA:404448
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Encephalocele, Exencephaly, Flat occiput ORPHA:2211
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynophagia, Eos... OMIM:147060
Intellectual Developmental Disorder, X-Linked 98
Gastroesophageal reflux, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, S... OMIM:300912
Frontonasal Dysplasia 3
Brachycephaly OMIM:613456
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Plagiocephaly, Postnatal growth retardation, Mitral valve prolapse, Craniosynostosis, Frontal bos... ORPHA:536467
Pitt-Hopkins Syndrome
Short fifth metatarsal, Self-injurious behavior, Small hand, Gastroesophageal reflux, Cupped ear,... OMIM:610954
Cranioectodermal Dysplasia 2
Rhizomelia, Plagiocephaly, Patent foramen ovale, Dolichocephaly, Left ventricular hypertrophy, At... OMIM:613610
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Ketonuria, Inflexible adherence to routines OMIM:608049
Au-Kline Syndrome
Plagiocephaly, Dolichocephaly, Sagittal craniosynostosis, Lipomyelomeningocele, Craniosynostosis OMIM:616580
7Q11.23 Microduplication Syndrome
Hearing impairment, Abnormal earlobe morphology, Polyphagia, Short neck, High palate, Hypospadias... ORPHA:96121
Mosaic Variegated Aneuploidy Syndrome 1
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly, Atrial septal defec... OMIM:257300
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Jej... OMIM:243150
Wiedemann-Steiner Syndrome
Low-set ears, Rhizomelia, Gastroesophageal reflux, Clinodactyly, Clinodactyly of the 5th finger, ... ORPHA:319182
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Ventricular septal defect, Proportionate short stature, Brachycephaly, Sho... OMIM:277600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Brachycephaly, Double ou... ORPHA:371428
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal... OMIM:603116
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Brachycephaly, Communicating hydrocephalus, Frontal bossing, Patent ductus arte... OMIM:618188
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Foxg1 Syndrome Due To 14Q12 Microdeletion
Gastroesophageal reflux, Abnormal antihelix morphology, Protruding ear, Motor stereotypy, Macrogl... ORPHA:261144
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly, Ventricular septal defect OMIM:618268
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly OMIM:612513
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Atrioventricular canal defect, Spina bifida, Dolichocephaly, Frontal bossing OMIM:619480
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Small hand, Large fleshy ears, Urinary bladder wall hypertrophy, Short neck, Anal atresia, High p... ORPHA:280633
Autosomal Dominant Popliteal Pterygium Syndrome
Joint stiffness, Popliteal pterygium, Scoliosis, Abnormal rib morphology ORPHA:1300
Aspergillosis
Osteomyelitis, Abnormality of the vertebral column, Abnormal rib morphology ORPHA:1163
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Genu valgum, Short neck, Radial head subluxation, Advanced ossification of car... OMIM:271640
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Micropenis, High palate, Motor stereotypy, Macrotia ORPHA:457240
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Bifid uvula, 2-3 toe syndactyly, Motor stereotypy, Attention deficit hyperactivity disorder, Aggr... OMIM:619121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Brachycephaly, Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ... ORPHA:49
Cerebrooculonasal Syndrome
Proboscis, Postnatal growth retardation, Encephalocele, Brachycephaly, Hydrocephalus, Craniosynos... OMIM:605627
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypo... OMIM:619428
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly OMIM:618828
Acrofrontofacionasal Dysostosis 2
Short stature, Brachycephaly OMIM:239710
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hearing impairment, Abnormal earlobe morphology, Sacral dimple, Abnorm... ORPHA:2556
Severe Intellectual Disability And Progressive Spastic Paraplegia
High palate, Motor stereotypy ORPHA:280763
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Brachycephaly, Neonatal death OMIM:619859
Nestor-Guillermo Progeria Syndrome
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W... OMIM:614008
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Bicoronal synostosis, Delayed puberty, Anterior plagiocephaly OMIM:619718
Bladder Exstrophy
Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the ureter, Vesicouret... ORPHA:93930
Snijders Blok-Campeau Syndrome
Low-set ears, Attention deficit hyperactivity disorder, High palate, Scoliosis, Motor stereotypy OMIM:618205
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Brachycephaly OMIM:301041
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Motor stereotypy, Lobulated tongue OMIM:613443
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing, Atrial septal defect OMIM:619512
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis ORPHA:93258
Antley-Bixler Syndrome
Craniosynostosis, Brachycephaly, Frontal bossing, Turricephaly ORPHA:83
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hearing impairment, Abnormality of the ureter, Aganglionic megacolon, ... ORPHA:3339
9Q33.3Q34.11 Microdeletion Syndrome
Brachycephaly, Plagiocephaly ORPHA:495818
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Rhizomelia, Plagiocephaly ORPHA:56304
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Intrauterine growth retardation, Mild postnatal growth... OMIM:101800
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Rectal prolapse, Multiple gastric polyps,... OMIM:174900
Turnpenny-Fry Syndrome
Plagiocephaly, Intrauterine growth retardation, Mitral valve prolapse, Tricuspid valve prolapse, ... OMIM:618371
Warburg Micro Syndrome 4
Short stature, Severe postnatal growth retardation, Brachycephaly OMIM:615663
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the finge... ORPHA:83617
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Brachycephaly, Plagiocephaly OMIM:301072
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... ORPHA:480536
20Q11.2 Microduplication Syndrome
Trigonocephaly, Brachycephaly, Growth delay, Severe intrauterine growth retardation ORPHA:363659
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Acute colitis, Hemoglobinuria, Colonic stenosis, Rectal prolapse, In... ORPHA:90038
Acrofrontofacionasal Dysostosis
Short stature, Brachycephaly ORPHA:1784
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Carpal synostosis, Cervical ribs, Abnormal shoulder morphology, Patellar a... OMIM:274000
Megalocornea-Intellectual Disability Syndrome
Metatarsus valgus, Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Genu varum... ORPHA:2479
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Umbilical hernia, Ventricular septal defect, Proportionate short stature, ... OMIM:608328
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Short neck, Short foot, Abnormal pinna morphology, Short toe,... OMIM:269860
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly OMIM:612379
Humeroradial Synostosis
Brachycephaly OMIM:236400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Finger syndactyly, Abnormality of the ureter, Bilateral cleft palate, Protruding ... ORPHA:3253
Arboleda-Tham Syndrome
Plagiocephaly, Secundum atrial septal defect, Frontal bossing, Intrauterine growth retardation, V... OMIM:616268
Mucopolysaccharidosis Type 3
Hearing impairment, Urinary glycosaminoglycan excretion, Genu valgum, Sensorineural hearing impai... ORPHA:581
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Plagiocephaly, Ebstein anomaly of the tricuspid valve, Abnormal left ventricle morphology, Patent... ORPHA:466791
Lig4 Syndrome
Brachycephaly, Growth delay, Biparietal narrowing ORPHA:99812
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Growth delay, Flat occiput ORPHA:2707
Fucosidosis
Cardiomegaly, Brachycephaly ORPHA:349
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hand clenching, Hearing impairment, Recurrent hand flapping, Protruding tongue, Aggressive behavi... OMIM:619580
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Brachycephaly ORPHA:364028
Rett Syndrome, Congenital Variant
Gastroesophageal reflux, Bruxism, Protruding ear, Talipes equinovarus, Motor stereotypy, Tongue t... OMIM:613454
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Hearing impairment, Rectoperineal fis... ORPHA:857
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs OMIM:184705
Osteogenesis Imperfecta, Type Xii
Short stature, Brachyturricephaly OMIM:613849
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception OMIM:112200
Monosomy 9Q22.3
Abnormality of the vertebral column, Abnormal rib morphology, Joint hypermobility, Short neck, Ac... ORPHA:77301
49,Xxxxy Syndrome
Short stature, Brachycephaly, Holoprosencephaly ORPHA:96264
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Renal hypoplasia/apl... ORPHA:818
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Anteriorly placed anus, Tibial torsion, Overlapping toe, Vesicoureteral reflux, Hyd... OMIM:618653
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Short stature, Brachycephaly ORPHA:562528
Cleidocranial Dysplasia 2
Plagiocephaly OMIM:620099
Campomelic Dysplasia
Thin ribs, Low-set ears, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Hearing impairment... OMIM:114290
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hearing impairment, Macrotia OMIM:619877
Myhre Syndrome
Abnormal penis morphology, Bifid uvula, Platyspondyly, Hearing impairment, Abnormal metaphysis mo... ORPHA:2588
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Dilatation of the renal pelvis... ORPHA:95699
Hoxha-Aliu Syndrome
Brachycephaly, Perimembranous ventricular septal defect, Atrial septal defect OMIM:620662
Adenylosuccinase Deficiency
Brachycephaly, Growth delay OMIM:103050
Congenital Disorder Of Glycosylation, Type Iit
Short stature, Brachycephaly OMIM:618885
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, 2-3 toe syndactyly, Short foot, Motor stereotypy OMIM:616351
Cerebrooculonasal Syndrome
Brachycephaly ORPHA:66625
Martsolf Syndrome 1
Short stature, Brachycephaly, Cardiomyopathy OMIM:212720
Familial Visceral Myopathy
Narrow chest, Hydroureter, Megacystis, Camptodactyly of finger, Low-set, posteriorly rotated ears... ORPHA:2604
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Plagiocephaly, Frontal bossing, Hypertrophic cardiomyopathy, Postnatal growth ... ORPHA:96334
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Short stature, Postnatal growth retardation, Brachycephaly OMIM:614800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Bilateral conductive hearing impairment, Volvulus, Dysphagia, Motor stereotypy OMIM:617802
Warburg Micro Syndrome 3
Postnatal growth retardation, Brachycephaly OMIM:614222
Den Hoed-De Boer-Voisin Syndrome
Brachycephaly, Intrauterine growth retardation, Ventricular septal defect OMIM:619229
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Plagiocephaly OMIM:620083
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Umbilical hernia, Mitral valve prolapse, Dolichocephaly, Hydrocephalus, Crani... OMIM:182212
Loeys-Dietz Syndrome 5
Patent foramen ovale, Ventricular septal defect, Brachycephaly, Atrial septal defect, Short statu... OMIM:615582
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Flat occiput OMIM:618797
Chromosome 16P13.3 Duplication Syndrome
Cervical C5/C6 vertebrae fusion, Short neck, Camptodactyly, Pectus excavatum, Tracheobronchomalac... OMIM:613458
Non-Syndromic Posterior Hypospadias
Urethral diverticulum, Displacement of the urethral meatus, Esophageal atresia, Micropenis, Anal ... ORPHA:95706
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Gastroesophageal reflux, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Acrodysostosis
Short stature, Brachycephaly, Frontal bossing ORPHA:950
Hunter-Macdonald Syndrome
Umbilical hernia, Mitral valve prolapse, Bicuspid aortic valve, Brachycephaly, Short stature, Pat... OMIM:611962
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly OMIM:618548
Transketolase Deficiency
Increased level of ribose in urine, Self-injurious behavior, Hearing impairment, Renal cyst, Atte... ORPHA:488618
Osteogenesis Imperfecta, Type Xi
Short stature, Brachycephaly OMIM:610968
Chilton-Okur-Chung Neurodevelopmental Syndrome
Posterior plagiocephaly, Plagiocephaly, Intrauterine growth retardation, Patent foramen ovale, Sh... OMIM:619841
Marshall Syndrome
Short stature, Brachycephaly, Frontal bossing, Thickened calvaria ORPHA:560
Ring Chromosome 7 Syndrome
Plagiocephaly, Situs inversus totalis, Brachycephaly, Severe intrauterine growth retardation, Sho... ORPHA:1449
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Postnatal growth retardation, Brachycephaly, Frontal bossing OMIM:156200
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Narrow chest, Capitate-hamate fusion, Hydroureter, Synostosis of ... ORPHA:289
White-Sutton Syndrome
Self-injurious behavior, Abnormality of the outer ear, Gastroesophageal reflux, Sensorineural hea... ORPHA:468678
Coffin-Siris Syndrome 1
Plagiocephaly, Umbilical hernia, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine ... OMIM:135900
Craniofrontonasal Syndrome
Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Short stature, Frontal bossing OMIM:304110
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Multiple bladder diverticula, Sandal gap, Hydronephrosis, Rectal prolaps... OMIM:613177
Sweeney-Cox Syndrome
Brachycephaly, Patent ductus arteriosus, Patent foramen ovale, Flat occiput OMIM:617746
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Motor stereotypy, Prominent ear helix ORPHA:411986
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal speech discrimination, Clinodactyly of the 5th finger, High pal... ORPHA:397612
Down Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... OMIM:190685
Fryns Syndrome
Thin ribs, Low-set ears, Abnormal helix morphology, Short neck, Anal atresia, Hypospadias, Duoden... OMIM:229850
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Narrow chest, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Horizontal ri... OMIM:617925
Childhood Disintegrative Disorder
Urinary incontinence, Motor stereotypy ORPHA:168782
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... ORPHA:213
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Plagiocephaly, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Short ... ORPHA:444077
2P15P16.1 Microdeletion Syndrome
Brachycephaly, Intrauterine growth retardation, Growth delay ORPHA:261349
Momo Syndrome
Short stature, Brachycephaly, Frontal bossing ORPHA:2563
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad thumb, Sensorineural hearing impairment, Motor stereotypy, Hypospadias, Self-injurious beha... ORPHA:353281
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Plagiocephaly, Intrauterine growth retardation, Ventricular septal defect, Bicuspid aortic valve,... OMIM:619475
Fibrous Dysplasia Of Bone
Rickets, Abnormal clavicle morphology, Abnormal rib morphology, Osteomalacia, Pathologic fracture... ORPHA:249
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Talipes equinovarus, 2-3 finge... OMIM:312870
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Gastroesophageal reflux, Aggressive behavior, Attention deficit hyp... OMIM:620242
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Micropenis, Postaxi... ORPHA:2519
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Bilateral sensorineural hearing impairment, High palate, Short foot... OMIM:614527
Helsmoortel-Van Der Aa Syndrome
Posterior plagiocephaly, Abnormal heart morphology, Intrauterine growth retardation, Mitral valve... OMIM:615873
Osteogenesis Imperfecta
Thin ribs, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification, Dislocated rad... ORPHA:666
X-Linked Intellectual Disability, Cantagrel Type
Gastroesophageal reflux, Motor stereotypy ORPHA:85277
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Degcags Syndrome
Plagiocephaly, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, ... OMIM:619488
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Brachycephaly, Patent ductus arteriosus, Atrial septal defect OMIM:300968
Pfeiffer Syndrome
Hydrocephalus, Coronal craniosynostosis, Brachyturricephaly, Cloverleaf skull OMIM:101600
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Overlapping toe, Bilateral talipes equinovarus, Clinodactyly of the 5th fing... OMIM:617807
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system... ORPHA:468631
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly, Double outlet right ventricle, Atrial septal defect, Short stature, Patent ductus ... OMIM:618223
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly ORPHA:45358
Momo Syndrome
Brachycephaly, Frontal bossing OMIM:157980
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Low-set ears, Abnormality of the outer ear, Finger syndactyly, P... ORPHA:2753
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Urinary retention, Neurogenic bladder, Rectal abscess, Anterior sacral men... OMIM:600145
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short distal phalanx of finger, Renal hypoplasia, Gastroesophageal reflux, Recurrent urinary trac... OMIM:617157
Fontaine Progeroid Syndrome
Coronal craniosynostosis, Umbilical hernia, Abnormal heart morphology, Intrauterine growth retard... OMIM:612289
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Finger syndactyly, Xerostomia, Camptodactyly of finger, Oral leukopla... ORPHA:2907
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Plagiocephaly, Secundum atrial septal defect, Postnatal growth retardation, Bicuspid aortic valve... OMIM:613355
Angelman Syndrome
Brachycephaly, Flat occiput OMIM:105830
Osteopetrosis With Renal Tubular Acidosis
Short stature, Brachycephaly, Plagiocephaly, Thickened calvaria ORPHA:2785
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Neurogenic bladder, Dysphagia ORPHA:572013
Alpha-Mannosidosis, Infantile Form
Cranial hyperostosis, Umbilical hernia, Thickened calvaria, Brachycephaly, Craniosynostosis, Comm... ORPHA:309282
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Narrow chest, Thoracic dysplasia, Renal insufficiency, Horizon... OMIM:208500
Aicardi-Goutières Syndrome
Short stature, Cardiomegaly, Plagiocephaly, Hypertrophic cardiomyopathy ORPHA:51
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Delayed skeletal maturation, Short neck, Abnormal rib morphology, Spina bifida occulta ORPHA:488434
Trisomy 9P
Brachycephaly ORPHA:236
Monosomy 9P
Low-set ears, Abnormality of the vertebral column, Abnormal rib morphology, Atresia of the extern... ORPHA:261112
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Bainbridge-Ropers Syndrome
Self-injurious behavior, Hand clenching, Low-set ears, Gastroesophageal reflux, Intestinal malrot... OMIM:615485
Faundes-Banka Syndrome
Intrauterine growth retardation, Plagiocephaly, Delayed puberty, Frontal bossing OMIM:619376
Oculodentodigital Dysplasia, Autosomal Recessive
Short stature, Brachycephaly, Frontal bossing OMIM:257850
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Platyspondyly, Narrow chest, 11 pairs of ribs, Short ribs, Cuppe... OMIM:250220
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Brachycephaly, Frontal bossing, Patent ductus arteriosus ORPHA:861
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly ORPHA:1521
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Anal atre... ORPHA:3016
Leprechaunism
Low-set ears, Megarectum, Nephrocalcinosis, Long penis, Rectal prolapse, Protruding ear, Hypercal... ORPHA:508
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Alg9-Cdg
Rhizomelia, Abnormal heart morphology, Ventricular septal defect, Brachycephaly, Atrial septal de... ORPHA:79328
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy, Renal tubular acidosis ORPHA:79155
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon, Attention deficit hyperactivity disorder, Aggressive behavior, Unde... OMIM:300352
Classical Ehlers-Danlos Syndrome
Gastroesophageal reflux, Hiatus hernia, Bladder diverticulum, Talipes equinovarus, Phalangeal dis... ORPHA:287
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Small hand, Abnormal temper tantrums, Head-banging, Clinodactyly, Overlapping toe, C... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posterior plagiocephaly, Umbilical hernia, Scaphocephaly, Ventricular septal defect, Brachycephal... OMIM:620330
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Oxycephaly, Trigonocephaly, Scaphocephaly,... OMIM:614188
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Motor stereotypy OMIM:618067
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess OMIM:620534
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy, Macrotia OMIM:618004
Warburg Micro Syndrome 2
Postnatal growth retardation, Brachycephaly OMIM:614225
Dysostosis, Stanescu Type
Short stature, Brachycephaly ORPHA:1798
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Anal stenosis, Renal dysplasia, Horseshoe kidney, Ab... ORPHA:322
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ... ORPHA:157794
Multicentric Osteolysis, Nodulosis, And Arthropathy
Short stature, Brachycephaly, Frontal bossing, Mitral valve prolapse OMIM:259600
Hamamy Syndrome
Craniosynostosis, Brachycephaly, Complete atrioventricular canal defect, Atrial septal defect OMIM:611174
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Microphallus, Self-mutilation, Hyperactivity, Micropenis, Motor stereotypy, Macrotia OMIM:300486
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Small hand, Scoliosis, Cupped ear, Clinodactyly, Hearing impairment, Overlapping to... OMIM:309590
Cree Impaired Intellectual Development Syndrome
Brachycephaly OMIM:606851
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Abnormal heart morphology, Brachycephaly, Atrial septal defect, Crani... ORPHA:369837
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Finger syndactyly, Hearing impairment, Missing ribs, Hand polydac... ORPHA:1647
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly, Ebstein anomaly of the tricuspid valve OMIM:608980
Liver Disease, Severe Congenital
Plagiocephaly, Umbilical hernia, Dilatation of the ventricular cavity, Intrauterine growth retard... OMIM:619991
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Block vertebrae, Absence of the sacrum OMIM:306955
Hijazi-Reis Syndrome
Gastroesophageal reflux, Motor stereotypy OMIM:301094
Duplication Of The Pituitary Gland
Short stature, Brachyturricephaly, Encephalocele ORPHA:314621
Peters Plus Syndrome
Hypoplastic left heart, Rhizomelia, Disproportionate short-limb short stature, Umbilical hernia, ... ORPHA:709
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Brachycephaly, Delayed puberty, Mild postnatal growth retardation ORPHA:456312
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Broad ribs, Genu valgum, Broad long bone diaphyses, Talipes equinovarus, ... OMIM:301066
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Hematuria, Proximal renal tubular acidosis, Motor stereotypy, Chronic otitis media, ... ORPHA:534
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Atrial septal de... ORPHA:1519
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Low-set ear... OMIM:118450
Ulbright-Hodes Syndrome
Thin ribs, Low-set ears, Fibular aplasia, Humeroradial synostosis, Talipes equinovarus, Short nec... ORPHA:3404
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Prominent antihelix, Inappropriate laughter, Short neck, Motor stereotypy, Macrotia OMIM:615802
Kaufman Oculocerebrofacial Syndrome
Short stature, Brachycephaly, Atrial septal defect, Ventricular septal defect OMIM:244450
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Brachycephaly OMIM:156400
Cystic Fibrosis
Gastroesophageal reflux, Hearing impairment, Meconium ileus, Nephrolithiasis, Steatorrhea, Rectal... ORPHA:586
Van Esch-O'Driscoll Syndrome
Bifid uvula, Clinodactyly of the 5th finger, Protruding ear, Motor stereotypy, Attention deficit ... OMIM:301030
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Grade III vesicoureteral reflux, Urethral stricture, Chordee, Broad toe, Urinary in... OMIM:619522
48,Xxxy Syndrome
Brachycephaly ORPHA:96263
19P13.13 Microdeletion Syndrome
Dolichocephaly, Brachycephaly ORPHA:357001
Ear-Patella-Short Stature Syndrome
High, narrow palate, Aplastic clavicle, Bifid uvula, Low-set ears, Abnormality of the outer ear, ... ORPHA:2554
5Q14.3 Microdeletion Syndrome
Toe syndactyly, Motor stereotypy ORPHA:228384
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Low-set ears, Radial bowing, Long ear, Fibular aplasia, Humeroradial synostosis, Barrel-shaped ch... OMIM:276820
Fraser Syndrome
Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory... ORPHA:2052
Developmental And Epileptic Encephalopathy 2
Small hand, Gastroesophageal reflux, Motor stereotypy, Short foot, Scoliosis, Tapered finger OMIM:300672
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly OMIM:619244
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Finger syndactyly, Camptodactyly of finger, Short 5th metaca... ORPHA:2908
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia ORPHA:79264
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention ORPHA:2795
Lig4 Syndrome
Brachycephaly OMIM:606593
Rett Syndrome
Bruxism, Stereotypical hand wringing, Scoliosis, Motor stereotypy, Agitation ORPHA:778
Frontofacionasal Dysplasia
Cranium bifidum occultum, Hypoplasia of the frontal bone, Brachycephaly OMIM:229400
Carpenter Syndrome 2
Umbilical hernia, Oxycephaly, Trigonocephaly, Situs inversus totalis, Brachycephaly, Transpositio... OMIM:614976
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Short stature, Plagiocephaly, Sagittal craniosynostosis, Secundum atrial septal defect OMIM:620455
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Xerostomia, Ureterocele, Hearing impairment, Absence of Stensen duct, Duplicated ... OMIM:604292
Doors Syndrome
Sirenomelia, Prominent occiput, Anterior plagiocephaly, Brachycephaly, Sagittal craniosynostosis,... ORPHA:79500
Coffin-Siris Syndrome 12
Low-set ears, Broad thumb, Velopharyngeal insufficiency, Sensorineural hearing impairment, Radiou... OMIM:619325
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Dysphagia, Abn... ORPHA:138
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Hematochezia, Self-injurious behavior, Low-set ears, Head-banging, Recurrent... OMIM:619575
Cartilage-Hair Hypoplasia
Brachycephaly, Neonatal short-limb short stature, Absent pubertal growth spurt OMIM:250250
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short stature, Brachycephaly, Thickened calvaria OMIM:309583
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re... ORPHA:79403
Cornelia De Lange Syndrome 1
Short stature, Brachycephaly, Intrauterine growth retardation, Ventricular septal defect OMIM:122470
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Scoliosis, Sensorineural hearing impairment ORPHA:457351
6Q Terminal Deletion Syndrome
Dolichocephaly, Plagiocephaly ORPHA:75857
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly ORPHA:2988
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Broad thumb, Sensorineural hearing impairment, Abnormality of the kidney, High pala... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Broad thumb, Sensorineural hearing impairment, Abnormality of the kidney, High pala... ORPHA:353277
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly ORPHA:457284
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum OMIM:211380
Cystic Fibrosis
Ileus, Rectal prolapse, Hypercalciuria, Steatorrhea, Meconium ileus, Clubbing of fingers OMIM:219700
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Lumbar hyperlordosis, Equinus calcaneus, Self-mutilation, 2-3 toe syndac... ORPHA:522077
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Hereditary Orotic Aciduria
Aminoaciduria, Low-set, posteriorly rotated ears, Abnormality of the ureter, Oroticaciduria, Orot... ORPHA:30
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Frontal bossing, Parietal bossing, Hydroce... OMIM:610828
Joubert Syndrome 6
Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis OMIM:610688
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Short stature, Brachycephaly, Frontal bossing OMIM:616728
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Urinary incontinence, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:98784
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Hypoplasia of the bladder, Clinodactyly, Radial deviati... OMIM:249000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Agitation ORPHA:927
Trichorhinophalangeal Syndrome, Type Ii
Plagiocephaly, Skull asymmetry, Mild postnatal growth retardation, Bicuspid aortic valve, Partial... OMIM:150230
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Umbilical hernia, Mitral valve prolapse, Tricuspid valve prolapse, Brachycephaly, Atrial septal d... OMIM:601776
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra ORPHA:752
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Frontal bossing, Patent foramen ovale, Brachycephaly, S... ORPHA:96149
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly OMIM:156610
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Bladder exstrop... OMIM:600057
Developmental And Epileptic Encephalopathy 100
Thoracolumbar kyphosis, Small hand, Gastroesophageal reflux, Protruding tongue, Bilateral camptod... OMIM:619777
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Charge Syndrome
Low-set ears, Sensorineural hearing impairment, Absent radius, Bilateral talipes equinovarus, Ana... OMIM:214800
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Polydipsia, Renal insufficiency, Tracheo... ORPHA:537
Immunodeficiency 40
Recurrent otitis media, Focal active colitis, Rectal fistula OMIM:616433
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Gastroesophageal reflux, Volvulus, Intestinal malrotation, Overlapping toe, Proteinuria, Hiatus h... OMIM:616682
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Abnormal stomach morphology,... ORPHA:141127
Malakoplakia
Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Hematuria, Proteinuria, N... ORPHA:556
Acromelic Frontonasal Dysostosis
Parietal foramina, Brachycephaly, Encephalocele OMIM:603671
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... ORPHA:424016
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Gastroesophageal reflux, Vertigo, Cystocele, Arachnodactyly, Gastrointestina... ORPHA:285
Branchioskeletogenital Syndrome
Thickened calvaria, Craniosynostosis, Brachycephaly, Umbilical hernia ORPHA:1299
Arthrogryposis And Ectodermal Dysplasia
Short stature, Brachycephaly OMIM:601701
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachycephaly, Growth delay OMIM:601353
Ayme-Gripp Syndrome
Short stature, Craniofacial asymmetry, Brachycephaly, Pericarditis OMIM:601088
Chime Syndrome
Tetralogy of Fallot, Ventricular septal defect, Brachycephaly, Pulmonary valve atresia, Transposi... ORPHA:3474
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... ORPHA:51608
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Short stature, Postnatal growth retardation, Brachycephaly, Delayed puberty OMIM:616263
Trisomy 18
Pointed helix, Narrow palate, Deviation of finger, Abnormal rib morphology, Camptodactyly of fing... ORPHA:3380
Craniofacial Microsomia 1
Block vertebrae, Cervical ribs, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia OMIM:164210
X-Linked Intellectual Disability, Armfield Type
Short stature, Brachycephaly, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:85276
Mandibuloacral Dysplasia Progeroid Syndrome
Postnatal growth retardation, Patent foramen ovale, Left ventricular hypertrophy, Mitral valve ca... OMIM:619127
Late Infantile Neuronal Ceroid Lipofuscinosis
Aggressive behavior, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity ORPHA:168491
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brachyturricephaly, Flat occiput, Patent ductus arteriosus, Ventricular septal defect OMIM:214100
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Platyspondyly, Finger swelling, Camptodactyly of finger, Low-molecular-weight prot... OMIM:309000
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Low-set ears, Bruxism, Hair-pulling, Talipes equinovarus, Aggressive beh... OMIM:616393
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Brachycephaly, Frontal bossing ORPHA:1236
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Short stature, Plagiocephaly ORPHA:3042
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis OMIM:619431
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Brachycephaly, Mitral valve calcification, De... ORPHA:2072
Intellectual Developmental Disorder, Autosomal Dominant 29
Brachycephaly, Frontal bossing OMIM:616078
Schimmelpenning-Feuerstein-Mims Syndrome
Short stature, Growth delay, Cranial asymmetry OMIM:163200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Prominent occiput, Truncus arteriosus, Turricephaly, Bicuspid... OMIM:612474
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy OMIM:619725
Roberts Syndrome
Postnatal growth retardation, Brachycephaly, Craniosynostosis, Severe intrauterine growth retarda... ORPHA:3103
Acrofrontofacionasal Dysostosis 1
Short stature, Brachycephaly OMIM:201180
Autosomal Recessive Faciodigitogenital Syndrome
Short stature, Brachycephaly, Frontal bossing ORPHA:1974
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal fingertip morphology, Motor stereotypy ORPHA:529965
Hallermann-Streiff Syndrome
Brachycephaly, Frontal bossing, Proportionate short stature ORPHA:2108
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly ORPHA:2062
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Gastroesophageal reflux, Hair-pulling, Protruding ear, Dysphagia, Hyperactivity, Ur... ORPHA:447997
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Brachyturricephaly ORPHA:93260
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria,... ORPHA:36426
Holt-Oram Syndrome
Hypoplastic scapulae, Narrow chest, Elbow dislocation, 11 pairs of ribs, Limited elbow extension,... OMIM:142900
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Brachycephaly, Atrial sep... OMIM:309500
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:610042
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly ORPHA:521445
Ogden Syndrome
Low-set ears, Narrow palate, Sandal gap, Broad hallux, Recurrent otitis media, Clinodactyly of th... OMIM:300855
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Oppositional defiant disor... ORPHA:580
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Prominent fingertip pads OMIM:617682
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Sensorineural hearing impairme... ORPHA:2152
Roberts-Sc Phocomelia Syndrome
Stillbirth, Postnatal growth retardation, Ventricular septal defect, Brachycephaly, Atrial septal... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu valgum, Sensorineural hea... ORPHA:261537
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Intrauterine growth retardation, Brachycephaly, Parietal bossing, ... OMIM:264090
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... ORPHA:449395
Congenital Myopathy 13
Short stature, Brachycephaly OMIM:255995
X-Linked Intellectual Disability, Snyder Type
Short stature, Brachycephaly ORPHA:3063
Viss Syndrome
Coronary sinus enlargement, Umbilical hernia, Right ventricular hypertrophy, Mitral valve prolaps... OMIM:619472
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Gastroesophageal reflux, Vesicoureteral reflux, Motor stereotypy, Posteriorly rotat... OMIM:617330
Primrose Syndrome
Self-injurious behavior, Short distal phalanx of finger, Narrow chest, Calcification of the auric... OMIM:259050
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short stature, Brachycephaly, Growth delay OMIM:619950
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Neoplasm of the rectum, Atten... ORPHA:440437
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Brachycephaly, Plagiocephaly OMIM:607932
14Q22Q23 Microdeletion Syndrome
Short stature, Brachycephaly ORPHA:264200
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... ORPHA:447877
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Low-set ears, Gastroesophageal reflux, 2-4 toe cutaneous syndactyly... OMIM:614756
Li-Fraumeni Syndrome
Stomach cancer, Neoplasm of the rectum, Renal neoplasm, Colorectal polyposis, Neoplasm of the gas... ORPHA:524
Cornelia De Lange Syndrome
Intrauterine growth retardation, Ventricular septal defect, Severe postnatal growth retardation, ... ORPHA:199
Congenital Disorder Of Deglycosylation 1
Brachycephaly OMIM:615273
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Gastroesophageal reflux, Clinodactyly, Broad hallux, Contracture of the proximal inte... OMIM:301044
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu valgum, Sensorineural hea... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ventricular septal de... OMIM:619503
Common Variable Immunodeficiency
Brachycephaly ORPHA:1572
Tetraamelia Syndrome 1
Low-set ears, Abnormal clavicle morphology, Abnormal scapula morphology, Renal agenesis, Urethral... OMIM:273395
Lynch Syndrome
Gastrointestinal hemorrhage, Intestinal polyposis, Salivary gland neoplasm, Neoplasm of the rectu... ORPHA:144
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Sandwich appearance of vertebral bodies OMIM:620558
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Brachycephaly, Delayed puberty, Atrial septal defect, Short stature, Patent ductu... ORPHA:480880
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Osteopetrosis, Abnormal rib morphology, Craniosynostosis, Reduced bone mineral dens... ORPHA:667
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short stature, Brachycephaly OMIM:610442
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Urachal cyst, Rectal abscess OMIM:608203
Pagod Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Abnormal clavicle morphology, Abnormal ri... ORPHA:991
Combined Immunodeficiency-Enteropathy Spectrum
Jejunoileal ulceration, Intestinal malrotation, Intestinal atresia, Gastrointestinal atresia, Rec... ORPHA:436252
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Osteopathia striata, Recurrent otitis media, Stereotypical body rocking,... ORPHA:513456
Niemann-Pick Disease, Type C2
Motor stereotypy, Dysphagia OMIM:607625
Wiedemann-Rautenstrauch Syndrome
Growth delay, Congenital malformation of the left heart, Intrauterine growth retardation, Thicken... ORPHA:3455
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Aspartylglucosaminuria
Short stature, Brachycephaly, Thickened calvaria OMIM:208400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Craniosynostosis, Brachycephaly, Frontal bossing, Cloverleaf skull OMIM:201750
Norrie Disease
Self-injurious behavior, Abnormal helix morphology, Sensorineural hearing impairment, Protruding ... ORPHA:649
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Rectal abscess OMIM:601495
Leukocyte Adhesion Deficiency, Type I
Rectal abscess OMIM:116920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Rectal abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Rectal abscess OMIM:306400
Nmda Receptor Encephalitis
Motor stereotypy, Agitation, Hypersexuality ORPHA:217253
Carney Complex
Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the stomach, Tongue nodules, Hepatocellu... ORPHA:1359
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Axin1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Axin1.

No publications found that use IMPC mice or data for Axin1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Axin1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Axin1tm4e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Axin1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Axin1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Axin1tm179127(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Axin1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Axin1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Axin1tm270606(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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