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Gene: Dyrk2 MGI:1330301

Gene Summary

Name:

dual-specificity tyrosine phosphorylation regulated kinase 2

Synonyms:

1810038L18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased large unstained cell number		Dyrk2^em1(IMPC)Ics	HET		Early adult	1.31×10^-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Dyrk2 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.

Human diseases associated with Dyrk2 (0 diseases)
Human diseases predicted to be associated with Dyrk2 (1086 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dyrk2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Sandal gap, Pro...	ORPHA:90650
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A...	ORPHA:2015
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,...	OMIM:300577
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in...	OMIM:256050
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narrow mouth, Bulbou...	ORPHA:969
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Anteverted nares...	ORPHA:2332
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Abnormal b...	ORPHA:163649
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi...	ORPHA:2370
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr...	OMIM:610017
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa...	ORPHA:217340
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Abnor...	ORPHA:3104
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Depressed nasal bridge, Rhizomelia, Short neck, Abnormali...	ORPHA:3098
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Diaphanospondylodysostosis	Short neck, Missing ribs, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebra...	ORPHA:66637
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat...	OMIM:155050
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme...	ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl...	ORPHA:40
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Verteb...	ORPHA:1248
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Shor...	OMIM:615583
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnorma...	ORPHA:915
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve...	OMIM:618961
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Clinodactyly o...	OMIM:244600
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Abnormality of the vertebral column, Polydactyly...	ORPHA:294975
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae...	OMIM:118651
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi...	ORPHA:166272
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na...	OMIM:619736
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ...	OMIM:312150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Depressed nasal bridge, A...	OMIM:616809
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ...	ORPHA:2345
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hyperflexibility, High palate, Everte...	ORPHA:1695
Lethal Recessive Chondrodysplasia	Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Macrogloss...	ORPHA:1423
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin...	OMIM:309620
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Joint stiffness, Micrognathia, Radial deviation of th...	ORPHA:1388
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi...	ORPHA:93329
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep...	ORPHA:261120
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra...	OMIM:269250
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Posterior rib fusion, S...	OMIM:122600
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane...	OMIM:178110
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Death in childhood, Dyspl...	OMIM:613320
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Microgn...	OMIM:616549
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Short neck, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Broad nasal tip, Bifid distal phalanx of the thumb, Tria...	ORPHA:370010
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Short long bone, Vertebral segmentation defect...	OMIM:618845
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Micrognat...	OMIM:241800
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Cleft p...	ORPHA:376
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os...	ORPHA:93315
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting...	ORPHA:628
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Long philtrum, Short nose, S...	ORPHA:46
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Cryptorchidis...	OMIM:180870
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ...	OMIM:300863
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis, Po...	ORPHA:2916
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Depressed nasal bridge, Rhizomelia...	OMIM:151210
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Widely-spaced maxillary central incisors, Partial duplica...	ORPHA:363417
Acrodysostosis	Micromelia, Accelerated skeletal maturation, Depressed nasal ridge, Short metatarsal, Abnormal fo...	ORPHA:950
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Short neck, ...	OMIM:200600
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in ...	OMIM:184260
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Short neck, Abnormal e...	ORPHA:93299
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo...	ORPHA:916
Clark-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ...	OMIM:617752
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae, Short neck, Kyph...	OMIM:277720
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Carious teeth, Cryptorchidism, Hemivertebrae, Wide nasal bridge...	ORPHA:377
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Premature ost...	OMIM:184840
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Koolen-De Vries Syndrome	High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi...	ORPHA:96169
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Acrocephalopolydactyly	Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose...	ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Abnorma...	ORPHA:93298
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the...	ORPHA:217385
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Orofaciodigital Syndrome Xi	Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas...	OMIM:612913
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, J...	ORPHA:2107
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized os...	OMIM:215045
Pierpont Syndrome	Wide nose, Broad nasal tip, Short neck, Long upper lip, Short toe, Cryptorchidism, Short foot, Br...	OMIM:602342
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Microg...	ORPHA:1801
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Sacral dimple, Prominent nasal bridge, Short neck, Broad ...	OMIM:613544
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Depressed nasal ridge, Cox...	ORPHA:2831
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Short neck, Micrognathia, Calcaneovalgus defo...	OMIM:615065
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnorma...	ORPHA:2639
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Thin vermilion bor...	OMIM:617991
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Delayed skeletal maturation, Narrow mout...	ORPHA:1495
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge...	ORPHA:1716
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ...	ORPHA:3258
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners...	OMIM:601224
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplates, Knee dislocation, H...	OMIM:618363
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Tapered finger...	OMIM:300602
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos...	ORPHA:3121
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant...	OMIM:616331
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Anteverted nares, Micrognathia, Open mouth, Bulbous nose, Pierre-Robin ...	OMIM:613604
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal epiphysis morpholog...	ORPHA:90653
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Pr...	ORPHA:401935
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose	ORPHA:2598
Achondrogenesis	Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Abnorma...	ORPHA:932
Fibrochondrogenesis	Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short ne...	ORPHA:2021
Autosomal Dominant Omodysplasia	Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocation, Cryptorchidis...	ORPHA:93328
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Short neck, Multiple prenatal fractures, Micrognathia, Flexion contractu...	OMIM:616897
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Abnormal rib morph...	ORPHA:2522
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Unilambdoid synosto...	OMIM:618577
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ...	ORPHA:1458
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Pterygium, Anisosp...	ORPHA:1865
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Proximal/middle symphalangism...	OMIM:184460
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Delayed skeletal maturation, Flexion contracture, Hip dysplasia, Scoliosis, ...	OMIM:618379
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis	OMIM:300263
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hype...	ORPHA:1803
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate ve...	ORPHA:1914
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn...	ORPHA:177
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosi...	OMIM:190440
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Cleft soft palate, Abnormality of th...	OMIM:618529
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Mosaic Trisomy 14	Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Short neck, Micrognathia, Cryp...	ORPHA:1703
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Death in infancy	OMIM:614876
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B...	OMIM:618618
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ...	OMIM:271510
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Kbg Syndrome	Tented upper lip vermilion, Short neck, Widely-spaced maxillary central incisors, Oligodontia, Th...	OMIM:148050
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Sandal gap, Cervical kyphosi...	OMIM:108721
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scol...	ORPHA:2429
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi...	ORPHA:2741
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of...	OMIM:608728
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Accelerated skeletal maturation, Joint stiffness, Long fingers...	ORPHA:1895
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap...	ORPHA:93307
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Thi...	OMIM:610015
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Short neck, Esophageal a...	OMIM:619859
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Thin upper lip vermilion, Anteverted nares, Sandal gap, Dental crow...	OMIM:617877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog...	OMIM:606612
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodac...	ORPHA:1327
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe...	OMIM:618506
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Increased bone mineral density, Abno...	ORPHA:1798
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Long fingers...	OMIM:604841
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Talipes...	OMIM:617333
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Abnormal metacarpal morp...	ORPHA:166100
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, M...	OMIM:227330
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario...	OMIM:617102
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Death in infancy, Micrognathia, Congenital contracture, High palate, Sc...	OMIM:615042
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Scoliosis, Thoracic hemivertebrae,...	ORPHA:1445
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An...	OMIM:211750
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Ab...	OMIM:118100
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Abnormal r...	ORPHA:1797
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:1234
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Abnormal pelvic ...	ORPHA:2928
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Accelerated skelet...	ORPHA:561
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachn...	ORPHA:251019
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec...	OMIM:613686
Antley-Bixler Syndrome	Arachnodactyly, Anteverted nares, Choanal atresia, Camptodactyly of finger, Recurrent fractures, ...	ORPHA:83
Blomstrand Lethal Chondrodysplasia	Accelerated skeletal maturation, Micrognathia, Distal shortening of limbs, Short metacarpal, Incr...	ORPHA:50945
Miller-Dieker Syndrome	Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S...	ORPHA:531
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Cryptorchidism, Delayed...	ORPHA:2701
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate, Micrognathia	ORPHA:141152
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Triangular shape...	OMIM:271665
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t...	ORPHA:2616
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Ohdo Syndrome	Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal ...	OMIM:249620
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly o...	ORPHA:2633
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Scoliosis, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Basal Cell Nevus Syndrome 1	Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Kyphoscoliosis, Cle...	OMIM:109400
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Limb undergrowth, Limited elbow extension	ORPHA:156728
Even-Plus Syndrome	Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor...	OMIM:616854
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto...	ORPHA:171839
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r...	OMIM:610443
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Downturne...	OMIM:613443
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short...	OMIM:302950
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Long philtrum, Short nose, Smooth philtrum	ORPHA:438178
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Choanal atresia, Abnormality of the philtrum, Missing ribs, Aplasia/Hypoplasia of...	ORPHA:2759
Arthrogryposis, Distal, Type 2A	Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina bifi...	OMIM:193700
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Joint...	OMIM:618870
Pde4D Haploinsufficiency Syndrome	Prominent nose, Accelerated skeletal maturation, Micrognathia, Short metatarsal, Irregular verteb...	ORPHA:439822
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Mohr Syndrome	Micrognathia, Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndacty...	OMIM:252100
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia...	ORPHA:3027
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Microretrognathi...	OMIM:616229
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Short neck, Humeroradial ...	OMIM:251230
Orofaciodigital Syndrome Type 10	Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short neck, Abnormal soft ...	ORPHA:884
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Cryptorch...	OMIM:130720
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, High palate, Ve...	OMIM:213980
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ...	OMIM:305400
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposmia, Clinodactyly, Decreased tes...	OMIM:614838
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Convex nasal ridge, Short neck, Micrognathia, Generalized joint laxi...	ORPHA:251028
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal...	OMIM:101600
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Depressed nasal bridge, Rhizomelia, Kypho...	OMIM:215100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Wide mouth, Joint contractu...	OMIM:615419
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Depressed nasal bridge, Hyperlordosis, Micrognathia...	ORPHA:1387
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Hemivertebrae, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Anteverted nares, Wide nasa...	OMIM:614701
Rapadilino Syndrome	Joint dislocation, Slender nose, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow pa...	OMIM:266280
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu valgum, Joint hyperflexibility, Hi...	ORPHA:1035
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Dental crowding, Narrow mouth,...	OMIM:615539
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Lamb-Shaffer Syndrome	Broad nasal tip, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick ...	ORPHA:530983
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th...	OMIM:227270
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly, Micromelia	ORPHA:93283
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Diastema, Metopic synostosis, Long philtrum, Short nose	OMIM:300581
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia...	ORPHA:1597
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Cleidocranial Dysplasia	Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodacty...	ORPHA:1452
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim...	ORPHA:2204
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Camptod...	OMIM:618761
Orofaciodigital Syndrome Xv	Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid...	OMIM:617127
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormalit...	ORPHA:93160
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Cryptorchidism, Osteoart...	OMIM:618000
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Delayed skeletal maturat...	OMIM:608545
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Short neck, Micrognathia, Non-midline cleft lip, Crypto...	ORPHA:1752
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Pycnodysostosis	Persistent open anterior fontanelle, Prominent nose, Micrognathia, Generalized osteosclerosis, Hi...	ORPHA:763
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ...	ORPHA:1826
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa...	ORPHA:79107
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, O...	OMIM:616638
Cardioacrofacial Dysplasia 2	Tented upper lip vermilion, Accessory oral frenulum, Recurrent patellar dislocation, Conical toot...	OMIM:619143
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Laron Syndrome	Delayed skeletal maturation, Abnormal joint morphology, Short long bone, Limb undergrowth	OMIM:262500
Perlman Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Cryptorchidism, Wide nasal bridg...	ORPHA:2849
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Clinodactyly of the 5th finger, ...	OMIM:164745
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly	OMIM:616459
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Downturned corners of mouth, Thi...	ORPHA:2983
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Cryptorchidism, Flexion contracture, Wide nasal bridge,...	OMIM:618388
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent...	OMIM:617796
Melanocytic Nevus Syndrome, Congenital	Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtrum, Everted lower lip vermilion...	OMIM:137550
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger...	OMIM:300558
X-Linked Intellectual Disability, Abidi Type	Prominent nasal bridge, Non-midline cleft lip, Cleft palate, Scoliosis, Decreased testicular size	ORPHA:85273
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca...	OMIM:147891
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten...	OMIM:615716
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Short neck, Mi...	OMIM:217980
Kyphomelic Dysplasia	Micromelia, Micrognathia, Tibial bowing, Femoral bowing, Pterygium, Short metacarpal, Radial bowi...	OMIM:211350
Orofaciodigital Syndrome Iii	Kyphosis, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxia...	OMIM:258850
Peho-Like Syndrome	Short nose, Open mouth, Tapered finger	OMIM:617507
Intellectual Developmental Disorder, X-Linked 21	Tented upper lip vermilion, Dental crowding, Joint hypermobility, Macroorchidism, Open mouth, Sho...	OMIM:300143
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Pyloric stenosis, Cryptorchidi...	ORPHA:96184
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p...	OMIM:300484
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh...	OMIM:619356
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Abnormal rib morpho...	OMIM:602196
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Short phalan...	OMIM:166250
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Patellar hypoplasia, Thoracic kyphosis, High palate, Sho...	ORPHA:3041
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis	OMIM:607155
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Abnormal morphology o...	ORPHA:1307
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervical vertebrae, Verte...	ORPHA:79345
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Sle...	ORPHA:1185
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Wi...	OMIM:277440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Meckel Syndrome, Type 8	Cleft upper lip, Short neck, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovaru...	OMIM:613885
Temple Syndrome	Decreased testicular size, Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Cry...	OMIM:616222
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft palate, High p...	ORPHA:1784
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Non-Distal Duplication 13Q	Arachnodactyly, Abnormality of the dentition, Micrognathia, Cryptorchidism, Postaxial hand polyda...	ORPHA:1702
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Short neck, Abnormality of the dentition, Kyp...	ORPHA:238750
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Short metatarsal, Adv...	OMIM:614613
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Thin upper lip vermilion, Wide nose, Anteverted nares, Down-sloping shoulders, Kyph...	ORPHA:391408
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Hypophosphatasia, Infantile	Death in infancy, Craniosynostosis, Bowing of the legs, Abnormality of the dentition, Micromelia,...	OMIM:241500
Stuve-Wiedemann Syndrome 1	Enlarged joints, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contractur...	OMIM:601559
Raine Syndrome	Micromelia, Short neck, Micrognathia, Choanal stenosis, High palate, Microdontia, Neonatal death,...	OMIM:259775
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Short phalanx of f...	OMIM:616894
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Na...	ORPHA:93946
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Narrow mouth, Flexio...	OMIM:608612
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Depressed nasal bridge, Short neck, Open mouth, Bulbous nose, Cryptorchidism, Wide na...	ORPHA:369891
Tetrasomy 18P	Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Joint stiffness, Micrognathia, Non-midline cleft lip,...	ORPHA:1915
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Anteverted nares, Rhizomelia, Micromelia, Short neck, A...	ORPHA:1842
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Open mouth, Broad nasal tip	OMIM:613670
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Depressed nasal bridge, A...	ORPHA:1512
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Delayed skeletal maturation, Abnormality of the e...	ORPHA:2220
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Abnormal metacarp...	ORPHA:1295
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Death in infa...	OMIM:610682
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Cryptorchidism, Spin...	ORPHA:1724
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Delayed s...	ORPHA:2746
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Broad nasal tip, Cryptorchidism, Wide nasal bridge, Cleft p...	OMIM:615524
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Short neck, Accelerated skeletal maturation, High, narrow palate, Ver...	ORPHA:373
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa...	OMIM:186500
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Downturned corner...	ORPHA:531151
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Overlapping toe, Delayed skele...	OMIM:619383
Down Syndrome	Joint laxity, Depressed nasal bridge, Sandal gap, Aganglionic megacolon, Short neck, Protruding t...	ORPHA:870
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Depressed nasal bridge, Osteomalacia, Coxa valga, Avascular necros...	ORPHA:1901
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the...	OMIM:617604
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa...	ORPHA:1358
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ...	OMIM:258480
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Frontal open bite, Microgna...	OMIM:225410
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Choanal ste...	OMIM:101200
Trisomy 12P	Short neck, Micrognathia, Delayed skeletal maturation, Wide nasal bridge, Cleft palate, Downturne...	ORPHA:1699
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Underdeveloped nasal alae, Cleft upper lip, Short metatarsal, Wide nasal b...	OMIM:612916
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky...	ORPHA:508533
Sponastrime Dysplasia	Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str...	ORPHA:93357
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ...	ORPHA:175
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited w...	OMIM:617809
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia...	OMIM:258860
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus, Kyphoscoliosis, Knee flexion contracture	ORPHA:496689
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, W...	OMIM:601853
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol...	OMIM:614091
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Overlapping toe, Pr...	OMIM:618316
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl...	OMIM:614815
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Cryptorchidism, Non-midline cleft lip, W...	ORPHA:1252
Myhre Syndrome	Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Shor...	OMIM:139210
Acro-Renal-Mandibular Syndrome	Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia...	ORPHA:958
3C Syndrome	Finger syndactyly, Death in infancy, Depressed nasal bridge, Intestinal malrotation, Missing ribs...	ORPHA:7
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ...	DECIPHER:46
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Open mouth, Recurrent upper respiratory tract infections, Flexion contracture, D...	ORPHA:391372
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:264700
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies	OMIM:600972
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bri...	ORPHA:364577
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Tapered finger, Narrow mouth, Micrognathia, Wide nasal bridge, Narrow palate, Hypopla...	OMIM:620250
Seckel Syndrome 5	11 pairs of ribs, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cryptorchidism,...	OMIM:613823
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, High palate...	OMIM:268305
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Abnormality of the ...	OMIM:615398
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De...	ORPHA:87
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Depressed nasal bridge, A...	OMIM:108300
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow palate, Deep philtrum, Kn...	ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Depressed nasal bridge, Sandal gap, Dental crowding, Tapered finger, Mi...	OMIM:617061
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Wide nasal bridge, Short long...	OMIM:224410
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do...	ORPHA:261318
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ...	OMIM:618356
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Delayed skeletal maturation, Flexion contracture, Hyperexten...	ORPHA:544503
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies...	OMIM:230600
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus,...	ORPHA:1794
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid...	OMIM:224400
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Abnormality of the dentition, Carious teeth, Cryptorchidism...	ORPHA:1786
Acromesomelic Dysplasia 4	Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G...	OMIM:619636
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Anosmia, Osteoporosis, Cleft palate, Genu valgum, Decreased testicula...	OMIM:614880
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal cranios...	OMIM:145420
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth	ORPHA:228384
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Arachnodactyly, Sandal gap, Joint hypermobility, Dental crowding, Long nose, Kyp...	OMIM:617602
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,...	OMIM:613870
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla...	OMIM:612852
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bif...	OMIM:615777
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Micrognathia, Metaphyseal widening, G...	ORPHA:536471
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Tibial bowing, Short pal...	OMIM:601812
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,...	OMIM:219200
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing r...	OMIM:617866
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered...	OMIM:618430
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Flexion co...	OMIM:619124
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ...	OMIM:119600
Lowry-Maclean Syndrome	Osteopenia, Choanal atresia, Craniosynostosis, Delayed eruption of primary teeth, Micrognathia, H...	ORPHA:2409
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Oculodentodigital Dysplasia	Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Broad colume...	ORPHA:2710
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Short neck, Absent radius, Preaxial hand polyd...	ORPHA:233
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Abnormality of ...	OMIM:239800
Tetrasomy 5P	Anteverted nares, Overlapping toe, Short hallux, Short neck, Micrognathia, Long fingers, Wide ant...	ORPHA:3309
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s...	ORPHA:2010
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Large joint dislocations, Craniosynosto...	ORPHA:503
Smith-Magenis Syndrome	Toe syndactyly, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Joint stiff...	ORPHA:819
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth...	OMIM:194190
Omodysplasia 1	Short neck, Micrognathia, Limited elbow flexion, Short tibia, Depressed nasal bridge, Increased f...	OMIM:258315
Cerebrofaciothoracic Dysplasia	Wide nose, Short neck, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft palate, Wide mouth, Vert...	ORPHA:1394
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Underdeveloped nasal alae, Metatarsus a...	ORPHA:436003
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wide anterior fontanel, Cry...	OMIM:607812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Choanal stenosi...	ORPHA:95699
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Long fingers, Flexion contracture, Wide nasal bridge, 2-3 toe syndactyly, High pa...	OMIM:218000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Tapered finger, Broa...	OMIM:239300
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, 2-3 t...	ORPHA:485405
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short neck, Cleft lip, Bulbous nose, Deep philtrum, Wide nasa...	OMIM:618571
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Carious teeth, Mi...	ORPHA:96097
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Microdontia, B...	OMIM:613458
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, High, narrow palate, 2-3 toe cutaneous s...	OMIM:600920
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid nasal tip, Abno...	OMIM:258865
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose,...	OMIM:614105
Foxg1 Syndrome Due To 14Q12 Microdeletion	Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous no...	ORPHA:261144
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Anteverted nares, Hyperlordosis, Pierre-Robin sequence, Small hand,...	OMIM:619980
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Choanal atresia, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Tooth agenes...	OMIM:147950
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Ost...	ORPHA:289157
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness,...	OMIM:619184
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Bone pain, Rickets, Hypophosphatemic rickets	OMIM:193100
Marden-Walker Syndrome	Arachnodactyly, Anteverted nares, Short neck, Micrognathia, Kyphosis, High, narrow palate, Narrow...	OMIM:248700
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Depre...	ORPHA:2311
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,...	ORPHA:2772
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft pal...	ORPHA:1790
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Osteomalacia, Short neck, Recurr...	ORPHA:2176
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplasia of ...	ORPHA:3015
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Postaxial foot p...	ORPHA:474
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Anteverted nares, Short neck, Cleft upper lip, Cryptorchidism, Duplicat...	OMIM:243310
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the ...	OMIM:618828
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Micrognathia, Depressed nasal ridge, Hemivertebrae, Downturned corners of mouth, ...	OMIM:156200
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Joint contracture, High palate, L...	OMIM:618005
Geleophysic Dysplasia 1	Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, S...	OMIM:231050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ...	OMIM:614749
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Coxa valga, Microgna...	OMIM:619833
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Aicardi Syndrome	Intestinal polyposis, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Malabsorptio...	ORPHA:50
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Short...	ORPHA:2636
Ollier Disease	Micromelia, Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology	ORPHA:296
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism	ORPHA:85173
Fetal Hydantoin Syndrome	Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Tri...	ORPHA:1912
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Prominent nose, Microg...	OMIM:210600
Kinsship Syndrome	Osteopenia, Short neck, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced ...	OMIM:619297
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Sacral dimple, Depressed nasal bridge, Anteverted nares, Tented upper li...	ORPHA:363659
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Flexio...	OMIM:620369
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, High palate, Scoliosis, Short nose	ORPHA:1913
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal r...	ORPHA:1318
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos...	ORPHA:2655
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Short neck, Micrognathia, Deep philtrum, Flexion contracture, Hemiver...	ORPHA:96334
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Short neck, Abnor...	ORPHA:363528
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Wide ...	OMIM:608776
Nablus Mask-Like Facial Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Short hallux...	OMIM:608156
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ...	OMIM:164900
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Prominent nose, Micrognathia, Tibial bowi...	ORPHA:453510
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Anophthalmia Plus Syndrome	Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ...	ORPHA:1104
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Absent nasal bridge, Mesomelia, Broad...	ORPHA:171866
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi...	OMIM:619227
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas...	ORPHA:3144
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Long nose, Downtur...	OMIM:618590
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Generalized joint laxity, High palate, Abnormality of the cervical spine, Micr...	ORPHA:2953
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Accelerated skeletal maturation, Broad nasal tip, Kyp...	OMIM:617190
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho...	ORPHA:210548
Distal Deletion 10Q	Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, Clinod...	ORPHA:96148
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Osteoarthri...	ORPHA:560
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Exag...	ORPHA:261236
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal...	OMIM:602535
Mesomelia-Synostoses Syndrome	Microretrognathia, Abnormal vertebral morphology, Ulnar deviation of the hand, Progressive forear...	OMIM:600383
Malan Syndrome	Accelerated skeletal maturation, Coxa valga, Long fingers, Gingival overgrowth, Everted lower lip...	OMIM:614753
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar...	ORPHA:2780
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr...	OMIM:607597
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas...	OMIM:617895
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radi...	OMIM:311900
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Cryptorchidism, Flat acetabular roof, Anteriorly placed anus, Fused cervical vert...	OMIM:617159
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig...	OMIM:612313
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed l...	ORPHA:800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central incisors, Depressed nasal ...	OMIM:301040
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Short neck, Long philtrum, Short nose, Adducted thumb	ORPHA:50810
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hy...	OMIM:253250
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu...	ORPHA:329178
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Joint stiffness, Abnormal nasal morphology, Micrognathia, Non-mi...	ORPHA:245
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia...	ORPHA:1974
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge, Intestinal malrotation	ORPHA:2143
Geleophysic Dysplasia 2	Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal maturation, L...	OMIM:614185
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Tapered finger, Abnormality of the dentition, Orofacial ...	ORPHA:65286
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Short neck, Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft...	OMIM:612938
Gm1 Gangliosidosis	Depressed nasal bridge, Camptodactyly of finger, Broad nasal tip, Joint stiffness, Hyperlordosis,...	ORPHA:354
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Cutaneous syndactyly, Hi...	OMIM:617822
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers,...	OMIM:608149
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Aase-Smith Syndrome I	Death in infancy, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger	OMIM:147800
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch...	OMIM:617925
Distal Deletion 9P	Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, S...	ORPHA:1642
Aicardi Syndrome	Anteverted nares, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft upper lip, Hi...	OMIM:304050
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Stickler Syndrome	Joint dislocation, Micrognathia, Osteoarthritis, Depressed nasal ridge, Bone pain, Abnormal form ...	ORPHA:828
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,...	OMIM:617114
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Xylt1-Cdg	Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ...	ORPHA:370930
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,...	OMIM:616420
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Thickened cortex of long bones, Short neck, Delayed skeletal maturat...	ORPHA:488434
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b...	ORPHA:249
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg...	ORPHA:3241
Dpm1-Cdg	Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High, narrow palate...	ORPHA:79322
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Tapered finger, Short neck, ...	OMIM:615803
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, High palate, Short nose	OMIM:618774
Desmosterolosis	Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Supernumerary ribs, Short nose, Meckel diverticulum	ORPHA:163961
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif...	ORPHA:1300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Kyphosis, A...	ORPHA:476126
Peho Syndrome	Anteverted nares, Tapered finger, Open mouth, Flexion contracture, Limitation of joint mobility, ...	ORPHA:2836
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Postaxial h...	ORPHA:2752
Hydrolethalus	Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard palate...	ORPHA:2189
Catel-Manzke Syndrome	Joint dislocation, Short neck, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th f...	OMIM:616145
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm...	ORPHA:508498
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ...	ORPHA:1791
Dermotrichic Syndrome	Aganglionic megacolon, Short nose, Depressed nasal bridge, Abnormal vertebral morphology	ORPHA:99688
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Dental crowding, Short neck, High, narrow palate, Short ...	OMIM:309583
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Prominent nasal bridge, Underdeveloped nasal alae, Short neck, Micrognat...	ORPHA:2083
Spondyloepimetaphyseal Dysplasia, Krakow Type	Ulnar deviation of the wrist, Allergic rhinitis, Elbow contracture, Rhizomelia, 2-3 toe syndactyl...	OMIM:618162
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamartoma of tongue,...	OMIM:269860
Desmosterolosis	Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Micromelia, Abnor...	ORPHA:35107
3Mc Syndrome 2	Prominent nasal bridge, Limited elbow movement, Craniosynostosis, Cleft upper lip, Cryptorchidism...	OMIM:265050
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Acroosteolysis of distal phalanges (feet), Abnormal fingerti...	ORPHA:90154
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus, Scoliosis	OMIM:616155
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Long philtrum	OMIM:300887
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Prader-Willi Syndrome Due To Translocation	Prominent nose, Short neck, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly ...	ORPHA:177907
Campomelic Dysplasia	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Flexion contract...	ORPHA:2671
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid...	OMIM:211380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Micrognathia, Macrogl...	OMIM:242860
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614207
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
C Syndrome	Joint dislocation, Micromelia, Short neck, Micrognathia, High palate, Clinodactyly of the 5th fin...	ORPHA:1308
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, High palate, Widely...	OMIM:303600
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Prominent nose, Short neck, Micrognathia, Anteriorl...	OMIM:305450
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Joint laxity, Anteverted nares, Delayed skeletal maturation, Rib fusion, Wide na...	OMIM:157800
Mandibuloacral Dysplasia	Dental crowding, Delayed cranial suture closure, Micrognathia, Abnormal tongue morphology, Hypopl...	ORPHA:2457
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ov...	OMIM:616738
Autosomal Recessive Hypophosphatemic Rickets	Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral en...	ORPHA:289176
Chromosome 19Q13.11 Deletion Syndrome, Distal	Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Carious teeth, Micrognathia, Crypto...	OMIM:613026
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:2521
Mosaic Trisomy 8	Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Short neck, Micrognathia, ...	ORPHA:96061
Nicolaides-Baraitser Syndrome	Enlarged joints, Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interph...	OMIM:601358
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi...	OMIM:619005
Hartnup Disorder	Glossitis	OMIM:234500
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibilit...	ORPHA:93274
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Mi...	ORPHA:314655
Harel-Yoon Syndrome	Short nose, Hip dysplasia, Scoliosis, Micrognathia	OMIM:617183
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Esophageal atresia, Cryptorchidism, Rib fusion, Hemivertebrae, Su...	OMIM:206900
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Underdeveloped nasal alae, Cleft upper lip, Wi...	ORPHA:894
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid...	OMIM:620076
Meier-Gorlin Syndrome 6	Microretrognathia, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal ala...	OMIM:616835
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly...	OMIM:605627
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Flexion contracture, Narrow palate, Ankle clonus, Downturned corner...	OMIM:614222
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Protruding tongue, Abnormal thumb...	ORPHA:324410
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Short philtrum, Open mouth, Short nose	OMIM:618437
Micro Syndrome	Anteverted nares, Joint stiffness, Micrognathia, Kyphosis, Cryptorchidism, Wide nasal bridge, Hig...	ORPHA:2510
Becker Nevus Syndrome	Micromelia, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Scoliosis, Spina...	ORPHA:64755
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ...	OMIM:301845
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermi...	OMIM:617865
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Short 5th finger, Scolios...	ORPHA:500159
Cohen Syndrome	Micrognathia, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndact...	ORPHA:193
Thakker-Donnai Syndrome	Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Tracheoesophageal fistula, Downturned ...	ORPHA:1780
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd...	OMIM:610536
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia...	ORPHA:59315
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Short neck, Micromelia, High, narrow palate, Micrognathia, Downturne...	OMIM:122470
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Short metatarsal, Oligodontia, High palate, Short palm, Clinodacty...	OMIM:170390
Microcephaly-Capillary Malformation Syndrome	Wide nose, Cleft palate, Clinodactyly, Short distal phalanx of finger, Short nose, Brachydactyly	OMIM:614261
Peho Syndrome	Short nose, Tented upper lip vermilion, Open mouth, Tapered finger	OMIM:260565
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Tented upper lip vermilion, Short neck, Hig...	ORPHA:488632
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Narrow mout...	OMIM:601353
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Narrow greater sciatic notch, Abnormal bone ossificati...	ORPHA:79328
Developmental Delay With Or Without Dysmorphic Facies And Autism	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent na...	OMIM:618454
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Delayed cra...	OMIM:230740
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Abnormal dental enamel morpholo...	ORPHA:85199
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diaste...	OMIM:300534
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Toluene Embryopathy	Micrognathia, Tapered finger, Cryptorchidism, Thin vermilion border, Short nose, Smooth philtrum	ORPHA:1920
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han...	ORPHA:2658
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Kyphosis, Triangular mouth, Talipes equinovarus, Scolios...	OMIM:617988
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormality of the dentit...	ORPHA:2315
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Underdeveloped nasal alae, Prominent nose, Delayed skeletal maturation, Wide nasal br...	ORPHA:2637
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Depressed nasal bridge, Rhizomelia, Kyphosis, Wide anterior fontanel, Tibia...	OMIM:616482
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Bone pain, Tooth abscess	ORPHA:89937
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i...	ORPHA:3078
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Tracheomalacia, Microglossia, Mand...	OMIM:202650
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Cutaneous ...	OMIM:224690
Chops Syndrome	Anteverted nares, High, narrow palate, Cryptorchidism, Downturned corners of mouth, Long philtrum...	OMIM:616368
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth, Scoliosis, Lon...	OMIM:619179
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Anteverted nares, Micrognathi...	OMIM:247200
Bartsocas-Papas Syndrome 1	Short neck, Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, ...	OMIM:263650
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo...	OMIM:269150
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali...	ORPHA:261112
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Non-midline cleft l...	ORPHA:1908
Weiss-Kruszka Syndrome	Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Proximal placement of thumb, ...	OMIM:618619
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
19P13.13 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ...	ORPHA:357001
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, Wide nasal brid...	OMIM:618106
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nos...	OMIM:616430
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, A...	OMIM:151050
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Mesomelia, Short ti...	OMIM:605274
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Short ...	ORPHA:251071
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of...	ORPHA:2001
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st...	OMIM:222448
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Depressed nasal bridge, Unilateral cryptorchidism, Micrognathia, Bilater...	OMIM:613457
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Short nose	OMIM:617802
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Preaxial hand polydactyly, Cleft palate, Short nose	ORPHA:79113
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations	OMIM:614678
Seckel Syndrome 2	Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Accelerated skeletal maturation, Micrognathia, Fl...	OMIM:130070
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Tracheomalacia, Underdeveloped nasal alae, Recurrent fractures, Hig...	ORPHA:2108
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, C...	OMIM:263750
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper lip vermilion, Median ...	OMIM:612651
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Aglossia, Choanal stenosis, Coronal craniosynostosis	OMIM:241310
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Accelerated skeletal maturation, S...	ORPHA:77301
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Short neck, Elbow dislocation, Intestinal malrotatio...	ORPHA:99776
Macrocephaly/Autism Syndrome	Joint laxity, Depressed nasal bridge, Hydrocele testis, High palate, Long philtrum, Short nose	OMIM:605309
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ...	ORPHA:2031
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Wide nasal bridge, Cleft palate...	OMIM:616367
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bridge, Kyphoscoliosis, Mi...	OMIM:268400
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ...	ORPHA:2754
Fanconi Anemia, Complementation Group I	Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ...	OMIM:609053
Distal Duplication 17Q	Hallux valgus, Joint laxity, Thin upper lip vermilion, Overlapping toe, Arachnodactyly, Depressed...	ORPHA:3379
Dend Syndrome	Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodacty...	ORPHA:79134
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna...	ORPHA:521426
Schisis Association	Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia	ORPHA:63862
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip ...	ORPHA:319675
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Hypophosphatemic ricke...	ORPHA:157215
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ...	OMIM:602361
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Macrodontia, Prominent nasal bridge, Proximal placement of thumb, Coxa valga, Short n...	OMIM:212066
Ulbright-Hodes Syndrome	Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa...	ORPHA:3404
Trisomy 10P	Thumb contracture, Wide cranial sutures, Depressed nasal bridge, Anteverted nares, Abnormality of...	ORPHA:171929
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Sacral dimple, Thin upper lip vermil...	ORPHA:319182
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Lathosterolosis	Toe syndactyly, Anteverted nares, Lumbosacral meningocele, Micrognathia, Postaxial hand polydacty...	OMIM:607330
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Depressed nasal bridge, Rocker bottom foot, Cr...	ORPHA:1272
Tarp Syndrome	Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Cry...	ORPHA:2886
Toriello-Carey Syndrome	Aganglionic megacolon, Short neck, Micrognathia, Wide anterior fontanel, Cryptorchidism, Cleft pa...	ORPHA:3338
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Prominent nose, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:210710
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ...	ORPHA:284169
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Wi...	OMIM:618580
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short neck, Clinodactyly of the 5th finger,...	ORPHA:264450
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Depressed nasal brid...	OMIM:309590
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, Choanal stenos...	OMIM:218600
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Sh...	OMIM:115150
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog...	OMIM:618021
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis	OMIM:601596
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Pterygium Colli, Isolated	Short nose	OMIM:177990
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Craniosynostosis, Micrognathia, Bulbous nose, Delayed skeleta...	OMIM:614114
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Broad columella, Long hallux, Abnormality of t...	ORPHA:2308
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Hypercholanemia, Familial 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphology, Cryptorchidi...	ORPHA:2719
Zttk Syndrome	Flexion contracture, Hemivertebrae, Downturned corners of mouth, High palate, Short philtrum, Bif...	OMIM:617140
Aspartylglucosaminuria	Beaking of vertebral bodies, Abnormal morphology of ulna, Joint stiffness, Abnormality of the den...	ORPHA:93
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, Cleft palate, ...	OMIM:614080
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Micrognathia, Cryptorchidism, Hip dysplasia, Scoliosis, Short nose	ORPHA:496790
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate...	OMIM:617063
Deeah Syndrome	Death in infancy, Cervical hemivertebrae, Overlapping fingers, Short neck, Malabsorption, Cryptor...	OMIM:619004
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph...	ORPHA:221016
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi...	ORPHA:46059
Adenylosuccinase Deficiency	Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Wide mouth, Long philtrum, S...	OMIM:103050
Schinzel-Giedion Syndrome	Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Choa...	ORPHA:798
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Micrognathia, Narrow mouth, Microglossia, Dental malocclusi...	ORPHA:137888
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Anteverted nar...	OMIM:301044
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Underdeveloped nasal alae, Joint stiffness, Carious teeth, ...	OMIM:604173
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers...	OMIM:617527
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Intellectual Developmental Disorder, X-Linked 98	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Und...	OMIM:300912
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Short neck, Protruding tongue, Micrognathia, Thick vermilion border,...	OMIM:608779
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Short nose	OMIM:615851
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Short neck, Micrognathia, Cryptorchidism, Tr...	OMIM:257300
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Anteverted nares, Tapered finger, Broad nasal tip, Spinal rigidity, Micro...	OMIM:254940
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:352665
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge	ORPHA:1861
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Cleft palate, Finger ...	ORPHA:391474
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Hyperlordosis, U...	ORPHA:261330
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose, Delayed ...	OMIM:613038
Trisomy 18	Microretrognathia, Choanal atresia, Camptodactyly of finger, Esophageal atresia, Postaxial hand p...	ORPHA:3380
Neu-Laxova Syndrome 1	Micromelia, Short neck, Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Kleefstra Syndrome	Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow,...	ORPHA:261494
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n...	ORPHA:357074
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Everted lowe...	OMIM:608013
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Anteverted nares, Overlapping toe, Tented upper lip vermi...	ORPHA:464738
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula, Micrognathia	OMIM:615706
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, O...	OMIM:244450
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Micrognathia, Contracture of the dist...	ORPHA:83617
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Anteve...	ORPHA:1465
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Cryptorchidism, Abnormal f...	ORPHA:1812
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Wide nose, Everted upper lip vermilion, Depressed ...	OMIM:614609
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short foot...	ORPHA:250989
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Cryptorchidism,...	ORPHA:453499
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, High palate, Scoliosis,...	OMIM:300749
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Wormian bones, Anteverted nares, Micrognathia, Small hand, Fibular hypo...	ORPHA:444077
Ring Chromosome 7 Syndrome	Anteverted nares, Prominent nasal bridge, Narrow mouth, Small hand, Wide nasal bridge, Cleft pala...	ORPHA:1449
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose	OMIM:170100
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Narrow mouth, Cryptorchidism, Submucou...	ORPHA:2588
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, High palate, Prominent palatine ridges, Microretrognathia...	ORPHA:280633
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, Wide nasal bridge, Hydro...	OMIM:613603
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Flat nasal alae, Unilateral cleft ...	OMIM:610828
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Abnormality of...	OMIM:601088
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv...	ORPHA:818
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Anteverted nar...	ORPHA:261323
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Short neck, Accessory oral fren...	OMIM:616546
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Metopic synostosis, Narrow mouth, Short nose	OMIM:613735
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Vertebral segmentation defect, Narrow greater sciatic notch, Sho...	OMIM:312870
Fontaine Progeroid Syndrome	Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Microdontia, Neonatal dea...	OMIM:612289
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Anteverted nares, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowe...	OMIM:616449
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,...	ORPHA:1855
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Fat malabsorption, Rickets, Epistaxis	OMIM:211600
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Wide nose, Lumbar hyperlordosis, Sandal gap, Broad hallux, Dental crowd...	OMIM:616078
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, ...	ORPHA:363611
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat...	ORPHA:109
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Kyphoscoli...	ORPHA:488642
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Delayed skeletal maturation, Thin v...	OMIM:614800
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Short nose, Clinoda...	OMIM:614225
Ogden Syndrome	Congenital hip dislocation, Short neck, Micrognathia, Deep philtrum, Short philtrum, High palate,...	OMIM:300855
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Cone-shaped epiphyses of t...	OMIM:309350
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Osteomalacia, Recurrent fractures, Accelerated skeletal maturati...	ORPHA:562
Native American Myopathy	Joint laxity, Micrognathia, Cryptorchidism, Cleft palate, Abnormal curvature of the vertebral col...	ORPHA:168572
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Osteoporosis, Rickets	OMIM:560000
Cronkhite-Canada Syndrome	Intestinal polyposis, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Severe periodontitis, Depressed nasal bridge, Protruding tongue, Deep philtrum, ...	ORPHA:99843
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Cryptorchidism, Gout, Wide mouth, High palate, Death in childhood, Short ...	OMIM:300661
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxit...	OMIM:613610
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose	OMIM:618087
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Tooth malposition, Limb under...	OMIM:616541
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Osteom...	ORPHA:534
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit...	ORPHA:3342
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Short neck, Micromelia, Postaxial hand polydactyly, Hypoplas...	OMIM:200995
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia	OMIM:103300
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture	ORPHA:79243
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, High palate, Abnormal duodenum morphology, Joint lax...	OMIM:601776
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bifid nasal tip, Bilateral cleft lip and palate, High palate, Macroorch...	OMIM:618874
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis	OMIM:620285
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Protruding tongue, Cryptorchidism, Downturned corners of mouth, Macroglossia, E...	ORPHA:96147
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Cornelia De Lange Syndrome	Proximal placement of thumb, Short neck, Micromelia, Micrognathia, Downturned corners of mouth, W...	ORPHA:199
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Cerebrocostomandibular Syndrome	Death in infancy, Tracheomalacia, Micrognathia, Kyphosis, Posterior rib gap, Cleft palate, Glosso...	ORPHA:1393
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Short neck, Micrognathia, Cryptorchidism, Wide nasal bridge,...	ORPHA:2282
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod...	OMIM:613406
Jacobsen Syndrome	U-Shaped upper lip vermilion, Depressed nasal bridge, Anteverted nares, Missing ribs, Short neck,...	OMIM:147791
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E...	ORPHA:522077
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Sacral dimple, Broad n...	OMIM:617157
Treacher-Collins Syndrome	Abnormal dental morphology, Choanal atresia, Abnormal dental enamel morphology, Cleft upper lip, ...	ORPHA:861
Distal Deletion 12Q	Short neck, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3r...	ORPHA:96149
Okamoto Syndrome	Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Depressed ...	ORPHA:2729
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Downturned ...	OMIM:301030
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Short neck, Cryptorchidism...	ORPHA:1340
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Antev...	OMIM:619426
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,...	ORPHA:1652
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets	OMIM:613388
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Pallister-Hall Syndrome	Depressed nasal ridge, Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radi...	ORPHA:672
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Hydrocele ...	OMIM:615108
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Cryptorchidism, Short toe, Wide nasal bridge, Orofacia...	ORPHA:1519
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cryptorchidism, Cleft...	OMIM:615465
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Malabsorption, Flexion contracture, Triangular mouth, S...	OMIM:601675
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polyd...	ORPHA:93271
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Finger clino...	ORPHA:306542
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Delayed closure of the anterior...	OMIM:618460
Psoriasis 14, Pustular	Geographic tongue, Polyarticular arthritis, Oligoarthritis, Furrowed tongue	OMIM:614204
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Short nose, Joint hypermobility	ORPHA:293948
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Microm...	ORPHA:1675
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Hydrocele ...	OMIM:615109
Peters Plus Syndrome	Micromelia, Short neck, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Spina ...	ORPHA:709
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, High palate, Syndactyly, Anteverted nares, Hiatus herni...	OMIM:619488
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Cleft soft palate, Intestinal malrotation, Flexion contracture, Genu v...	OMIM:619321
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Anteverted n...	OMIM:619522
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Anteverted nares, Protruding tongue, Micrognathia, Wide n...	OMIM:617062
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Distal Deletion 15Q	Thin upper lip vermilion, Broad nasal tip, Abnormality of the dentition, Micrognathia, 2-3 toe cu...	ORPHA:1596
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm...	ORPHA:1401
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Short neck, Micrognathia, Flexion contrac...	OMIM:601803
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvula, Lumbar hyperlordosis, De...	ORPHA:500150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing...	OMIM:175500
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Kyphosis, Ankle clonus, Tongue fasciculations, Scoliosis, Death in childhood	OMIM:211530
Craniofacial-Deafness-Hand Syndrome	Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris	OMIM:122880
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Bone pain, Rachitic rosary, Rickets	OMIM:612089
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Short nose, Micrognathia	OMIM:266810
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Abnormal form of the vertebral bodies, Vertebral segme...	ORPHA:904
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Short neck, Ha...	ORPHA:434179
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Rabson-Mendenhall Syndrome	Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormality of the dentitio...	ORPHA:769
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H...	OMIM:309580
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Cryptorchidism, Delayed sk...	OMIM:609942
Ramos-Arroyo Syndrome	Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, Xerostomia, Conca...	ORPHA:1051
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Shor...	OMIM:306955
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underde...	ORPHA:268261
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Bul...	OMIM:616975
Fraser Syndrome	Finger syndactyly, Anal stenosis, Cleft ala nasi, Depressed nasal bridge, Toe syndactyly, Dental ...	ORPHA:2052
Celiac Disease, Susceptibility To, 1	Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En...	OMIM:212750
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Macroglo...	ORPHA:505248
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Cleft maxillary alveolar ...	ORPHA:508488
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Hydrocele ...	OMIM:158350
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Dental crowding, Prominent...	OMIM:619503
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607765
X-Linked Agammaglobulinemia	Arthritis, Glossoptosis, Osteomyelitis, Malabsorption	ORPHA:47
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery...	OMIM:119500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ...	OMIM:619475
Cystinosis	Rickets, Malabsorption	ORPHA:213
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Kyphoscoliosis, Joint stiffness, Ileal at...	OMIM:618820
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Cryptorchidism, Hip dislocation,...	OMIM:309000
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Short palm, Short nose, Brachydactyly	ORPHA:3339
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Congenital Bile Acid Synthesis Defect Type 2	Fat malabsorption, Rickets, Steatorrhea	ORPHA:79303
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Thin upper lip vermilion, Sandal gap, Broad nasal tip, Short neck, Long fingers, Wi...	OMIM:620330
Meckel Syndrome, Type 1	Short neck, Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxia...	OMIM:249000
Cadds	Short nose, Micrognathia	ORPHA:369942
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Craniofacial Microsomia 1	Block vertebrae, Cleft upper lip, Micrognathia, Partial duplication of thumb phalanx, Hemivertebr...	OMIM:164210
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdontia, Oral leukoplakia	OMIM:148210
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, ...	ORPHA:99949
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Bone pain, Osteomalacia, Chondrocalcinosis	OMIM:600740
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Flexion contracture of finger, Scoliosis	ORPHA:101085
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo...	OMIM:194050
Giant Cell Arteritis	Epistaxis, Joint stiffness, Recurrent pharyngitis, Arthritis, Glossitis	ORPHA:397
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Colitis, Steatorrhea	ORPHA:309031
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Intestinal malrotation, Delayed skeletal maturation, Rickets, Esophagea...	OMIM:613658
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Fanconi-Bickel Syndrome	Rickets, Osteomalacia, Malabsorption	OMIM:227810
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Kyphoscoliosis, Scoliosis, Tongue atrophy	ORPHA:99956
Meckel Syndrome	Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial hand polydacty...	ORPHA:564
Wilson Disease	Osteomalacia, Osteoarthritis, Osteoporosis, Esophageal varix, Hyposmia, Chondrocalcinosis, Joint ...	OMIM:277900
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Generalized Pustular Psoriasis	Arthritis, Geographic tongue, Cheilitis	ORPHA:247353
Cowden Syndrome	Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorec...	ORPHA:201
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Craniorachischisis	Bifid sternum, Anal atresia, Sirenomelia	ORPHA:63260
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica...	ORPHA:51608
Distal Renal Tubular Acidosis	Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced bone mineral den...	ORPHA:18
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Tongue atrophy, Flexion contracture of finger, Congenital finger f...	ORPHA:466768
Multiple Endocrine Neoplasia Type 2	Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abnormal tongue morphology, T...	ORPHA:653
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters	ORPHA:79396
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Cystinosis, Nephropathic	Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum, Hypophosphatemic rickets...	OMIM:219800
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Osteomalacia, Gastritis, Oral ulcer, Arthritis, J...	OMIM:619381
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Penile Agenesis	Depressed nasal bridge, Rectal fistula, Cryptorchidism, Tracheoesophageal fistula, Bilateral tali...	ORPHA:49
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Osteomalacia, Chondrocalcinosis	ORPHA:405
Kawasaki Disease	Recurrent pharyngitis, Glossitis, Cheilitis, Arthritis	ORPHA:2331
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Narrow mouth	OMIM:606721
Microsporidiosis	Rhinitis, Glossitis, Osteomyelitis	ORPHA:2552
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Carney Complex	Neoplasm of the stomach, Testicular neoplasm, Esophageal neoplasm, Testicular adrenal rest tumor,...	ORPHA:1359
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large intest...	ORPHA:707

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 Dyrk2

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 Dyrk2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The novel ciliogenesis regulator DYRK2 governs Hedgehog signaling during mouse embryogenesis.	eLife (August 2020)	Dyrk2^{tm97300(L1L2_Bact_P)}	PMC7410489

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MGI Allele	Allele Type	Produced
Dyrk2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dyrk2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Dyrk2^em1(IMPC)Ics	Deletion	Mice
Dyrk2^{tm97300(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dyrk2 MGI:1330301

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Dyrk2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data