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Gene: Aff3 MGI:106927

Gene Summary

Name:

AF4/FMR2 family, member 3

Synonyms:

Laf4, LAF-4, 3222402O04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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	Allele	Zyg	Life Stage	P Value
vertebral transformation	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.79×10^-06
decreased grip strength	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.01×10^-05
abnormal incisor morphology	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.74×10^-07
increased circulating alkaline phosphatase level	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.79×10^-05
increased circulating chloride level	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.70×10^-05
decreased circulating serum albumin level	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	6.15×10^-06
abnormal snout morphology	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.93×10^-05
abnormal tooth morphology	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.26×10^-06
decreased circulating fructosamine level	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.74×10^-05
abnormal vertebral arch morphology	Aff3^{tm1a(EUCOMM)Wtsi}	HET	Early adult	5.92×10^-08
abnormal vertebral arch morphology	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.07×10^-07
fusion of vertebral arches	Aff3^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.64×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	50% (1 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

XRay Images Forepaw

21 Images

View images

Legacy Phenotype Associated Images

Aff3^{tm1a(EUCOMM)Wtsi}
WT, Female, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

View all 151 images

Aff3^{tm1a(EUCOMM)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
corpus callosum, decreased corpus callosum size, HOM, Male, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

View all 12 images

Aff3^{tm1a(EUCOMM)Wtsi}
cornea/lens fusion, HOM, Female, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
corneal opacity, HOM, Female, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
eyelids fail to open, HOM, Female, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
left eye, HOM, Female, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
left eye, eyes fail to open, HET, Female, WTSI

View all 7 images

Aff3^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Aff3^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Aff3 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 Aff3 (1 diseases)
Human diseases predicted to be associated with Aff3 (940 diseases)

The table below shows human diseases associated to Aff3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Kinsship Syndrome		Osteopenia, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Pol...	OMIM:619297

The table below shows human diseases predicted to be associated to Aff3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly	OMIM:607539
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Distal Arthrogryposis Type 1	Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Ulnar deviation of finger, Abnormal...	ORPHA:1146
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Abnormalit...	OMIM:613752
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Ventriculomegaly, Abnormality of the dentition, Mild malformation of cortical development, Dyspla...	ORPHA:500166
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr...	OMIM:619719
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Galloway-Mowat Syndrome 8	Microcephaly, Hypoalbuminemia, Enamel hypoplasia, Focal cortical dysplasia, Cerebral cortical atr...	OMIM:618349
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met...	ORPHA:2370
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability, Microcephaly	OMIM:251250
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Elbow contracture, Microcep...	OMIM:606612
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermil...	OMIM:300602
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati...	ORPHA:166016
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Coxopodopatellar Syndrome	Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp...	ORPHA:1509
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal...	ORPHA:166108
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Galloway-Mowat Syndrome 6	Microcephaly, Delayed skeletal maturation, Downturned corners of mouth, Wide mouth, High palate, ...	OMIM:618347
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Cerebral atrophy, Hypoalbuminemia, Scoliosis, Progressive...	ORPHA:79327
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis	ORPHA:88643
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Ventriculomegaly, Microcephaly, Cleft palate, Thin vermilion border, Narrow mouth,...	OMIM:615502
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Coenzyme Q10 Deficiency, Primary, 3	Focal T2 hyperintense basal ganglia lesion, Hypoalbuminemia	OMIM:614652
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cerebral calcification, Carious teeth, Hydrocephalus, He...	ORPHA:377
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Maxillonasal Dysplasia, Binder Type	Short nose, Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae	OMIM:155050
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Alg6-Cdg	Macroglossia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis	ORPHA:79320
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Cleft palate, Aplasia/Hypo...	ORPHA:916
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcephaly, Periventricular cysts, Hypoalbuminemia, Scoliosis, Joint hype...	OMIM:619013
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Lissencephaly 4	Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Primary microcephaly, A...	OMIM:614019
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Wide nasal bridge, Cerebral atrophy, Gingival overgrowth, Dow...	OMIM:618729
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ab...	ORPHA:2631
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of...	OMIM:604213
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di...	ORPHA:2916
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ...	OMIM:222600
Filippi Syndrome	Microcephaly, Wide nasal bridge, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, ...	OMIM:272440
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia, Cerebral atrophy	OMIM:607250
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of...	OMIM:113000
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Short neck, Microcephaly, Hemivertebrae...	OMIM:615583
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop...	ORPHA:363417
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat...	OMIM:618363
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli...	OMIM:601216
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron...	ORPHA:90650
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho...	ORPHA:2332
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Abnormality of the dentition, Dysplastic corpus callosum, Delayed s...	ORPHA:557003
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Hypoplasia of the femoral head, Long fin...	OMIM:610797
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Hypertriglyceridemia, High palate, Primary microcephaly	OMIM:618010
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra...	OMIM:177170
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu...	ORPHA:65759
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Orofaciodigital Syndrome Viii	Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Dworschak-Punetha Neurodevelopmental Syndrome	Elevated circulating creatine kinase concentration, Microcephaly, Short neck, Dysplastic corpus c...	OMIM:619955
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Aarskog-Scott Syndrome	Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short neck, Hypoplasia of th...	ORPHA:915
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis	OMIM:208920
Rubinstein-Taybi Syndrome 2	Micrognathia, Microcephaly, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High p...	OMIM:613684
Lethal Recessive Chondrodysplasia	Micromelia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Cleft palate, Genu valgum,...	OMIM:614078
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T...	OMIM:146000
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Smooth philtrum, Schizencephaly, Reduced cerebral white matter volume, Short neck, Micrognathia, ...	OMIM:620156
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobu...	OMIM:614815
Orofaciodigital Syndrome Xi	Cleft palate, Gastroesophageal reflux, Postaxial polydactyly	OMIM:612913
Diaphanospondylodysostosis	Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ...	ORPHA:66637
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pachygyria, Narrow mouth, Delayed skeletal maturation, Wide nasal brid...	OMIM:235510
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver...	OMIM:309620
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte...	OMIM:244600
Nephrotic Syndrome, Type 11	Micrognathia, Cleft lip, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia, Smooth...	OMIM:616730
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T...	OMIM:608940
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi...	OMIM:164900
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma...	ORPHA:93351
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Microcephaly, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:216550
Familial Congenital Mirror Movements	Fused cervical vertebrae, Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio...	ORPHA:2345
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Microcephaly, Micrognathia, Hypoplasia of the maxilla, Hydrocephalu...	ORPHA:2409
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Dysphagia, Intrauterine growth retardation, Camptodactyly	OMIM:619751
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Microcephaly...	OMIM:178110
Koolen-De Vries Syndrome	Vertebral fusion, Abnormal dental enamel morphology, Microcephaly, Abnormality of the dentition, ...	ORPHA:96169
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal...	OMIM:613091
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Cleft soft palate,...	ORPHA:2756
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Hypoplasia of the corpus callosum, ...	OMIM:618528
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Genu recurvatum, Kyphosis, Narrow palate, Short upper lip, S...	ORPHA:364028
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv...	ORPHA:1803
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Carp...	OMIM:605282
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Elevated circulating creatinine concentration, Hypoalbuminemia, Long philtrum, Campto...	OMIM:608104
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Short neck, Craniosynostosis, Micrognathia, Si...	ORPHA:284417
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic defects of...	ORPHA:83468
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hand ...	OMIM:258860
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora...	OMIM:249700
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Microcephaly, Micrognathia, Flexio...	OMIM:616549
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Reduced cerebral white matter volume, Microcephaly, Narrow mouth, Wide nasal bridge, Downturned c...	OMIM:617333
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Xfe Progeroid Syndrome	Microcephaly, Hypoalbuminemia, Scoliosis, Premature loss of teeth, Enamel hypoplasia, Ventriculom...	OMIM:610965
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ...	OMIM:184260
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum	OMIM:613162
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine growth retardation	ORPHA:1506
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cervical platyspondyly, Macrodontia, Microcephaly, Downturned corners of mouth, Tooth agenesis, C...	OMIM:618731
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum...	OMIM:227270
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara,...	ORPHA:93307
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology, Palmoplantar keratoderma	ORPHA:2206
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, A...	ORPHA:3035
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ...	OMIM:123000
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu...	ORPHA:93346
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Meckel Syndrome, Type 2	Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd...	OMIM:603194
Even-Plus Syndrome	Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft vertebrae, High palate,...	OMIM:616854
Galloway-Mowat Syndrome 3	Microcephaly, Micrognathia, Narrow mouth, Hip dislocation, Simplified gyral pattern, Cerebral atr...	OMIM:617729
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low...	OMIM:618067
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Pontocerebellar Hypoplasia, Type 12	Micrognathia, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Joint contrac...	OMIM:618266
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Cerebellofaciodental Syndrome	Short neck, Microcephaly, Delayed skeletal maturation, Dental malocclusion, Genu valgum, Taurodon...	OMIM:616202
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Mala...	ORPHA:2522
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Cleft palate,...	OMIM:620269
Shox-Related Short Stature	Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, Low...	ORPHA:314795
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Microretrognathia, Agyria, Microcephaly, Hypoplastic anterior limbs of ...	ORPHA:171680
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte...	ORPHA:93315
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Long nose, Hypopl...	OMIM:257850
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx...	OMIM:617926
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic girdle bone morphology,...	ORPHA:1788
Leishmaniasis	Hypoalbuminemia, Abnormal oral mucosa morphology, Abnormal oral cavity morphology	ORPHA:507
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Intestinal mal...	OMIM:617866
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Short neck, Microcephaly, Micrognathia, Delayed skeletal maturation, Dent...	ORPHA:444072
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Nephronophthisis 15	Polydactyly	OMIM:614845
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th...	OMIM:272460
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Immunodeficiency 32B	Sinusitis, Cerebral calcification, Hypoalbuminemia	OMIM:226990
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Cleft p...	OMIM:256050
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal upper limb epip...	ORPHA:93311
Mucopolysaccharidosis-Plus Syndrome	Cerebral calcification, Short neck, Microcephaly, Flexion contracture, Wide nasal bridge, Macrogl...	OMIM:617303
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Joint laxity, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Thi...	ORPHA:488635
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Micrognathia, Kyphosis, P...	OMIM:618291
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Tented upper lip vermilion, Exaggerated cupid's bow, Dysplastic corpus callosum, Gingival overgro...	OMIM:616900
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Immunodeficiency 27A	Salmonella osteomyelitis, Hypoalbuminemia	OMIM:209950
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Thick lower lip verm...	OMIM:154780
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Alg13-Cdg	Abnormal lateral ventricle morphology, Long philtrum	ORPHA:324422
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po...	ORPHA:300573
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ce...	OMIM:242150
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Osteoporosis, Diffuse leukoenc...	OMIM:619487
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Tongue fasciculations, Microcephaly	OMIM:618276
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Delayed closure of the anterior fontanelle, Microcephaly, Lateral vent...	OMIM:618736
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Thin upper lip vermilion, Ventriculomegaly, Downturned corners of mouth...	OMIM:613443
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Cheilitis, Arthritis, Hypoal...	ORPHA:247353
Alg12-Cdg	Hyponatremia, Thin upper lip vermilion, Ventriculomegaly, Ulnar deviation of the wrist, Micrognat...	ORPHA:79324
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Enla...	OMIM:600081
Galloway-Mowat Syndrome 1	Ventriculomegaly, Microcephaly, Micrognathia, Cerebral atrophy, Wide mouth, Joint contracture of ...	OMIM:251300
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Colpocephaly, Pachygyria, Wide nasal bridge	OMIM:614870
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Wi...	OMIM:108721
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Wide nasal bridge, Hyperammonemia, Subependymal cysts, Lat...	OMIM:610015
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Refractory Celiac Disease	Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi...	ORPHA:1427
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry	ORPHA:231140
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,...	OMIM:618961
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Carious teeth, Narrow mouth, Flexion contracture, Decreased serum zinc, Hyp...	ORPHA:89842
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Hydroceph...	OMIM:130720
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Brachydactyly	ORPHA:221054
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Metaphyseal cupp...	OMIM:614524
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati...	OMIM:156550
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal...	OMIM:617668
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, High palate, Talipes equino...	OMIM:201170
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Lumbar hyperlordosis, Short neck, Joint stiffness, Hydrocephalus, Flexion...	ORPHA:505248
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Split hand, Dysphagia, Abnormal pelvic girdle bone morph...	OMIM:157900
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hydrocephalu...	OMIM:613686
Grant Syndrome	Down-sloping shoulders, Tibial bowing	OMIM:138930
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Long fibula, Abnormal metaphy...	ORPHA:935
Grant Syndrome	Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2097
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Micrognathia, Narrow mouth, Partial agenesis of the corpus callosum, Wide nasal bridg...	OMIM:620250
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ...	OMIM:265800
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Microcephaly	OMIM:620062
Craniosynostosis 6	Dandy-Walker malformation, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Latera...	OMIM:616602
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Adducted thumb, Ulnar deviation...	ORPHA:1147
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis, Microcephaly	ORPHA:1445
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wre...	OMIM:615777
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Corpus callosum atrophy, Kyph...	OMIM:619244
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Dilated fourth ventricle, Thin upper lip vermilion, Microcephaly, Kyphosis, Flexion c...	OMIM:212065
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta...	OMIM:118100
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Carious teeth, Delayed skeletal maturation, Abnormality ...	ORPHA:2701
Achondroplasia	Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemi...	OMIM:617093
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Micrognathia, Hydrocephalus, D...	OMIM:619833
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Limitation of joint...	OMIM:224400
Lamb-Shaffer Syndrome	Micrognathia, Microcephaly, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border, ...	ORPHA:530983
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Knee pain, Hypoalbuminemia	OMIM:614441
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Polydactyly	OMIM:602501
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular o...	ORPHA:53
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Protruding tongue, Dysplastic corpus callosum, Simplified gyral pattern, Wide nasal...	OMIM:619179
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow d...	ORPHA:90652
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Gastroesophagea...	OMIM:619721
Joubert Syndrome 23	Polydactyly	OMIM:616490
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb...	ORPHA:1553
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis, Microcephaly	OMIM:619055
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft	ORPHA:141091
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he...	OMIM:268310
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus...	OMIM:252100
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Ventriculomegaly, Microcephaly, Cleft u...	OMIM:610443
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Abnormal tongue morphology, Gastrointestinal dysmotility, Hip dysplasia, Polyda...	ORPHA:531151
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum...	ORPHA:79243
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High...	OMIM:618142
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Cleft palate, Abnormal pelvic gi...	ORPHA:3429
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati...	ORPHA:239
Acrofacial Dysostosis, Catania Type	Carious teeth, Spina bifida occulta, Microcephaly	OMIM:101805
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Mucopolysaccharidosis, Type Iva	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl...	OMIM:253000
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact...	ORPHA:59315
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c...	ORPHA:1724
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hypoplasi...	OMIM:620114
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate	OMIM:607361
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Microcephaly, Dysplas...	OMIM:620001
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee...	OMIM:609945
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Enla...	OMIM:241530
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Microcephaly	OMIM:617575
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal...	OMIM:269250
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o...	OMIM:166210
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Abnormalit...	ORPHA:438216
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Wide nasal bridge, Cleft pala...	OMIM:615716
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Megalencephaly, Microdontia, Car...	OMIM:269300
Smith-Magenis Syndrome	Mandibular prognathia, Hypertriglyceridemia, Hypercholesterolemia, Tented upper lip vermilion, De...	ORPHA:819
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Premature osteoarthritis, Flexion contracture, Flared m...	OMIM:215150
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Femoral-Facial Syndrome	Short femur, Coxa vara, Abnormal fibula morphology, Cleft palate, Abnormal pelvic girdle bone mor...	ORPHA:1988
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Cleft upper lip, Elbow dislocation, Dislocated...	OMIM:150250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem...	OMIM:213980
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Foot polydactyly, Duodenal atresia	ORPHA:3004
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Dysplastic corpus callosum, Thin vermilion border, Secondary microcephaly, Per...	OMIM:619737
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef...	OMIM:109400
Mucopolysaccharidosis Type 4	Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye...	ORPHA:582
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Scoliosis, Cerebral cortical hemiatrophy	ORPHA:306669
Shashi-Pena Syndrome	Thin upper lip vermilion, Reduced cerebral white matter volume, Accelerated skeletal maturation, ...	OMIM:617190
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos...	OMIM:614175
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin...	ORPHA:36234
Snijders Blok-Campeau Syndrome	Joint laxity, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Scoliosis, Enamel...	OMIM:618205
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum	OMIM:619972
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Upper limb unde...	ORPHA:94068
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Facet joint arthrosis, Osteoarthritis, ...	OMIM:618000
Joubert Syndrome 16	Polydactyly	OMIM:614465
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Abnormal cer...	ORPHA:540
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Hypoalbuminemia	ORPHA:367
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal...	ORPHA:140
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Long nose, Ky...	ORPHA:2769
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Anal atresia, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac bones, Preaxi...	OMIM:616300
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha...	OMIM:277170
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mob...	ORPHA:3145
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Intellectual Developmental Disorder, X-Linked 103	Wide mouth, Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Hypoalbuminemia, Smooth tongue, Enamel hypoplasia, Ventr...	ORPHA:79396
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Wide nasal bridge, Lateral ventricle d...	ORPHA:79326
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Micrognathia, Partial agenesis of the corpus callosum,...	OMIM:270400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta...	ORPHA:93352
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Wolcott-Rallison Syndrome	Hyponatremia, Microcephaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Tented upper lip vermilion, Microcephaly, Lateral ventricle dilatation, H...	OMIM:614105
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Congenital Enterovirus Infection	Ventriculomegaly, Hypoalbuminemia, Hyperammonemia	ORPHA:292
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Reduced cerebral white matt...	OMIM:620075
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Paganini-Miozzo Syndrome	Mandibular prognathia, Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion ...	OMIM:301025
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Osteolysis, Fus...	OMIM:612852
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Long nose, Wide nasal bridge, Ankle clonus, Lateral ventricle dilatation, High pal...	OMIM:619995
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Median cleft pal...	OMIM:169400
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Abnormality of the dentition, Long nose, Dysplastic corpus callosum, Thin lower ...	ORPHA:363444
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Kyphoscoliosis	ORPHA:466722
Omodysplasia 2	Short humerus, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic distal humeri, Rh...	OMIM:164745
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Joubert Syndrome 27	Polydactyly	OMIM:617120
Slc35A2-Cdg	Osteopenia, Cerebral white matter atrophy, Increased circulating thyroglobulin level, Limb joint ...	ORPHA:356961
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the 5th finger, Joint hypermobility	OMIM:616362
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo...	ORPHA:73223
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th fi...	ORPHA:397590
Dent Disease 1	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max...	ORPHA:87
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Atelosteogenesis, Type I	Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem...	OMIM:108720
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Trismus, Deep philtrum, Hyperextensible hand joints, Dental malocclusion, Narro...	OMIM:227330
Hypotonia, Infantile, With Psychomotor Retardation	Open mouth, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:616816
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo...	OMIM:271665
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Aicardi Syndrome	Dandy-Walker malformation, Prominence of the premaxilla, Block vertebrae, Microcephaly, Dilated t...	OMIM:304050
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Microc...	ORPHA:2919
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, D...	OMIM:616034
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Microcephaly, Cerebral atrophy, Hypoalbumin...	OMIM:251880
Martsolf Syndrome 2	Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus cal...	OMIM:619420
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte...	ORPHA:163654
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation	ORPHA:101071
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Congenital contractur...	OMIM:607596
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Cerebral calcification, Increased bone mineral density, Abno...	ORPHA:1798
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Rhizomelia, Recurrent fractures, Decreas...	OMIM:616229
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Micrognathia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Wide mouth, Camptoda...	OMIM:604273
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr...	ORPHA:50814
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Cleft palate	OMIM:613885
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissencephaly, Narrow mouth, Polym...	OMIM:614833
Stapes Ankylosis With Broad Thumbs And Toes	Long nose, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,...	OMIM:618019
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Cerebral calcification, Microcephaly, Delayed skeletal maturation, Rick...	OMIM:613658
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Single transverse palmar crease, Elb...	OMIM:210600
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Caudal Regression Syndrome	Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vertebral bodies,...	ORPHA:3027
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb...	ORPHA:1452
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Microcephaly, Micrognathia, Vertebral clefting, Submucou...	OMIM:301043
Xylt1-Cdg	Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Short femoral neck, S...	ORPHA:370930
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat...	OMIM:618150
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Flexion contracture, Limitati...	ORPHA:1865
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Combined Oxidative Phosphorylation Defect Type 39	Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Congeni...	ORPHA:565624
Mucopolysaccharidosis, Type Ivb	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl...	OMIM:253010
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Microcephaly, Micrognathia, Dysplastic corpus callosum, Hypoplas...	ORPHA:314679
Trichohepatoenteric Syndrome 1	Avascular necrosis of the capital femoral epiphysis, Narrow mouth, Wide mouth, Increased serum ir...	OMIM:222470
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion...	OMIM:156400
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp...	OMIM:601678
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Postaxial polydactyly, Tapered finger, High palate, Gastroesophageal reflux, Int...	OMIM:613792
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpu...	OMIM:619517
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri...	OMIM:613312
Weiss-Kruszka Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Broad philtrum, Colpocephaly, Hypoplasia of the...	OMIM:618619
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Anal...	OMIM:607323
Wildervanck Syndrome	Fused cervical vertebrae, Short neck	ORPHA:3456
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Scoliosis, Hy...	OMIM:617751
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophag...	OMIM:250250
Kbg Syndrome	Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Microcephaly, Delayed skel...	OMIM:148050
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Agenesis of corpu...	OMIM:101200
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Kyphoscoliosis, Decreased LDL cholesterol co...	ORPHA:14
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, High...	OMIM:271640
Robinow Syndrome	Fused thoracic vertebrae, Dental crowding, Kyphoscoliosis, Micrognathia, Persistence of primary t...	ORPHA:97360
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone pain	ORPHA:86839
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth ...	OMIM:601559
Achondrogenesis, Type Ii	Absent vertebral body mineralization, Broad long bones, Short tubular bones of the hand, Cleft pa...	OMIM:200610
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os...	OMIM:277900
Wolf-Hirschhorn Syndrome	Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Orofacial cleft, Down...	OMIM:194190
Malan Overgrowth Syndrome	Accelerated skeletal maturation, Narrow mouth, Lateral ventricle dilatation, High palate, Scolios...	ORPHA:420179
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Abnor...	ORPHA:364577
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Postaxial polydactyly	ORPHA:544254
Fanconi Anemia, Complementation Group I	Absent septum pellucidum, Short neck, Microcephaly, Fused cervical vertebrae, Colpocephaly, Agene...	OMIM:609053
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr...	OMIM:610442
Al Amyloidosis	Macroglossia, Abnormal salivary gland morphology, Increased circulating NT-proBNP concentration, ...	ORPHA:85443
Spondyloenchondrodysplasia	Delayed eruption of teeth, Abnormal lateral ventricle morphology, Cerebral calcification, Ventric...	ORPHA:1855
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Flexion contracture, Submucous cleft hard palate, Epiphyse...	OMIM:222765
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Microcephaly, Downturned corners of mouth, Lumbar scoliosis, High palate, S...	OMIM:617796
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia, Secondary microcephaly	OMIM:618329
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Micrognathia, Kyphosis, Wide mouth, Colpocephaly, High palate, Thick vermilion b...	ORPHA:261250
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn...	OMIM:259700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Microcephaly	OMIM:615508
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Thin upper lip vermilion, Microcephaly	ORPHA:370010
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th...	ORPHA:508498
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Aicardi Syndrome	Ventriculomegaly, Prominence of the premaxilla, Block vertebrae, Microcephaly, Cleft upper lip, P...	ORPHA:50
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum,...	OMIM:619423
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Preaxial polydactyly, Hypopl...	OMIM:617925
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Intestinal malrotation, Postaxial polydactyly, 2-3 toe syndactyly, Cleft palate, Postaxial foot p...	ORPHA:404440
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth...	ORPHA:1780
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Metaphyseal widening, Flexion contracture, Short long bone, Narrow g...	OMIM:263210
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, High palate, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D...	ORPHA:37042
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida o...	OMIM:619227
Holoprosencephaly 5	Microcephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lateral ventricle dilatation, High p...	OMIM:609637
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Microcephaly, Micrognathia, Contractures of...	ORPHA:3078
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Joint hyperflexibility, Abnormal pelvic girdle bone...	ORPHA:1458
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micrognathia, Dysplastic corpus callosum, Wide nasal bridge, Narrow mouth, Hypocholesterolemia	OMIM:618810
Momo Syndrome	Delayed eruption of teeth, Short neck, Delayed skeletal maturation, Thick lower lip vermilion, De...	OMIM:157980
Pontocerebellar Hypoplasia, Type 13	Thin upper lip vermilion, Macrodontia, Microcephaly, Lateral ventricle dilatation, High palate, S...	OMIM:618606
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Partial agenesis of the corpus ca...	ORPHA:300570
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal...	ORPHA:79500
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Incre...	OMIM:241200
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr...	OMIM:615889
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Persistent open anterior fontanelle, Congenital ...	ORPHA:357058
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Lateral ventricle dilatation, Oligodontia	OMIM:618330
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Harrod Syndrome	Arachnodactyly, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic girdle bone...	ORPHA:2115
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bones, Phocomeli...	OMIM:276820
Lethal Congenital Contracture Syndrome 10	Stiff neck, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High palate, Talipes eq...	OMIM:617022
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Pyloric ...	OMIM:613848
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ...	ORPHA:175
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Wide nasal bridge, Lateral ventricle di...	OMIM:608629
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Cog5-Cdg	Diffuse cerebral atrophy, Cerebral white matter atrophy, Camptodactyly of finger, Microcephaly, S...	ORPHA:263487
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Osteoarthritis, Hypotriglyceridemia, Hypoalbuminem...	ORPHA:2298
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo...	ORPHA:186
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Sho...	ORPHA:373
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited hip movement...	OMIM:258315
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Thin upper lip vermilion, Sacral dimple, Craniosynostosis, Microcephaly, Abnormality ...	ORPHA:363611
Duane Retraction Syndrome	Short neck, Microcephaly, Micrognathia, Wide nasal bridge, Abnormal form of the vertebral bodies,...	ORPHA:233
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Long nose, Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, High pa...	OMIM:620113
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of...	OMIM:607812
Orofaciodigital Syndrome V	Sandal gap, Aganglionic megacolon, Postaxial polydactyly, Hamartoma of tongue, Postaxial hand pol...	OMIM:174300
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large intestine, Intr...	OMIM:614576
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Short neck, Microcephaly, Join...	OMIM:139210
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Flexion ...	OMIM:616007
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Choanal Atresia	Tracheomalacia, Polydactyly, Craniosynostosis	ORPHA:137914
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Flexion contracture, Abnormal caudate nucleus morphology, Lateral ...	ORPHA:2148
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil...	OMIM:261540
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Ost...	OMIM:619718
Joubert Syndrome 37	Postaxial polydactyly, High palate, Joint hypermobility	OMIM:619185
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:401815
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint hypermobility, Joint stiffness, Oral-pharyngeal dysphagia, Cleft palate, Short long bone, S...	OMIM:619184
Microphthalmia, Syndromic 3	Vertebral fusion, Microcephaly, Hemivertebrae, Hypoplasia of the corpus callosum, Agenesis of cor...	OMIM:206900
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Microcephaly, Wide mouth, Lateral ventricle dilatation, Thick vermilion bo...	ORPHA:85290
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus	ORPHA:73256
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Intrauterine growth retardatio...	ORPHA:1133
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Kyphosi...	ORPHA:464738
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Mandibular prognathia, Dental crowding, Microcephaly, Elbow dislocation...	OMIM:620083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Ventriculomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:613154
Holoprosencephaly 9	Abnormal cortical gyration, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla...	OMIM:610829
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Colpocephaly, Secon...	OMIM:620352
Meier-Gorlin Syndrome 1	Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, High palate, Gastroesophage...	OMIM:224690
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing	ORPHA:85165
W Syndrome	Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodact...	ORPHA:2804
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly	ORPHA:77299
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Absent uvu...	OMIM:600383
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Submucous cleft hard palate, Abnormal cereb...	ORPHA:457279
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Split hand, Elbow flexion contractu...	OMIM:200980
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Avascular necrosis of the capital femoral epiphysis, ...	ORPHA:353281
Oculodentodigital Dysplasia	Selective tooth agenesis, Microcephaly, Cleft upper lip, Basal ganglia calcification, Enamel hypo...	OMIM:164200
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Tented upper lip vermilion, Microcephaly, Basal ganglia...	OMIM:617281
Cach Syndrome	Microcephaly, Flexion contracture, Nonketotic hyperglycinemia, Cerebral atrophy, Lateral ventricl...	ORPHA:135
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Cleft palate, S...	OMIM:300968
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Arachnodactyly, Intestinal malrotation, Craniofacial osteosclerosis, Osteopathia s...	OMIM:300373
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Elevated hemoglobin A1c, Microcephaly	OMIM:619278
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lateral ventricle dilatation, Joint contracture of the 4th f...	OMIM:618914
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Kapur-Toriello Syndrome	Short neck, Dysplastic corpus callosum, Orofacial cleft, Pachygyria, Polymicrogyria	ORPHA:2328
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Ventriculomegaly, Microcephaly, Carious teeth, Latera...	OMIM:619229
Mosaic Trisomy 1	Microretrognathia, Thoracic scoliosis, Camptodactyly of finger, Thick lower lip vermilion, Elbow ...	ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 56	Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Secondary microcephaly, Long...	OMIM:617854
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial ag...	OMIM:619103
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Sifrim-Hitz-Weiss Syndrome	Flat acetabular roof, Fused cervical vertebrae, Wormian bones, Bifid uvula, Ventriculomegaly	OMIM:617159
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:263520
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Micrognathia, ...	ORPHA:353277
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca...	ORPHA:488627
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Short neck, Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mo...	OMIM:300868
Marburg Hemorrhagic Fever	Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulat...	ORPHA:99826
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cl...	ORPHA:2886
Combined Oxidative Phosphorylation Deficiency 12	Elevated circulating alpha-fetoprotein concentration, Dysplastic corpus callosum, Leukoencephalop...	OMIM:614924
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Micrognathia, Multifocal cerebral white matter ...	OMIM:600721
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
Opsismodysplasia	Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ...	OMIM:258480
Juvenile Polyposis Of Infancy	High, narrow palate, Hypoalbuminemia, Narrow mouth	ORPHA:79076
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu...	ORPHA:2524
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Adams-Oliver Syndrome 2	Microcephaly, Micrognathia, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymi...	OMIM:614219
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Geleophysic Dysplasia 1	Osteopenia, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of the capital femor...	OMIM:231050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Dental crowding, Microcephaly, Micrognathia, Wide nasal bridge, Gingiva...	OMIM:615485
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Cleft palate, P...	OMIM:603671
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Sagittal craniosynostosis, Limit...	ORPHA:221120
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Retrogna...	ORPHA:544488
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Cleft palate, Deep palmar crease, Polydactyly, Camptodactyly, Cl...	OMIM:247200
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s...	OMIM:614099
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Sho...	OMIM:143095
Distal Deletion 10Q	Thin upper lip vermilion, Prominent metopic ridge, Lumbar hyperlordosis, Craniosynostosis, Microc...	ORPHA:96148
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Kinsship Syndrome	Osteopenia, Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Pol...	OMIM:619297
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Ventriculomegaly, Abnormal acetabulum morphology, Absent septum ...	ORPHA:397715
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Tracheoesophageal fistula, Abnormal pelvic girdle bone morphology, Gastroesoph...	ORPHA:1834
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia	OMIM:211900
Halperin-Birk Syndrome	Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly, High palate, Thick vermilion bo...	OMIM:618651
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hyperlipidemia, Abnormal primary molar ...	ORPHA:1830
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo...	OMIM:618188
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, High palate, Reduced bone...	ORPHA:3079
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Scoliosis	OMIM:256850
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618890
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Oral ulcer, A...	OMIM:619381
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, Short neck, Micrognathia, Tr...	OMIM:613458
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S...	OMIM:304120
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol...	OMIM:209900
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d...	OMIM:249420
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque...	OMIM:617137
X-Linked Parkinsonism-Spasticity Syndrome	Ankle clonus, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Prader-Willi Syndrome Due To Translocation	Thin upper lip vermilion, Microcephaly, Short neck, Micrognathia, Carious teeth, Alveolar ridge o...	ORPHA:177907
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Delayed closure of the anterior fontanelle, Microcepha...	OMIM:618460
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartoma of tongue, B...	OMIM:269860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Microcephaly, Wide nasal bridge, Cerebral atrophy...	OMIM:300896
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Limitation...	OMIM:252500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Talipes equinovarus, Micromelia, Short long bone	OMIM:224410
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Trident pelvis, Short lingual frenulum, Flexion contracture, Wide nasal bridge, Lateral ventricle...	OMIM:619479
Noonan Syndrome 14	Short neck, Kyphosis, High, narrow palate, Wide mouth, Lateral ventricle dilatation, Thick vermil...	OMIM:619745
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas...	OMIM:218330
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Craniosynostosis, Microcephal...	OMIM:616268
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Micrognathia, Partial agenesis of the corpus callosum, Delayed epiphyseal ossificatio...	OMIM:210710
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Partial agenesis of the corpus callosum, Cerebral atrophy, Lateral ventricle dil...	OMIM:617296
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Submucous cleft har...	OMIM:612863
Weaver Syndrome	Dysharmonic bone age, Mandibular prognathia, Absent septum pellucidum, Accelerated skeletal matur...	OMIM:277590
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Choroid plexus cyst, Retrognathia, Abnormal caudate nucleus morphology, Latera...	ORPHA:293725
Chops Syndrome	Microcephaly, High, narrow palate, Downturned corners of mouth, Long philtrum, Tracheomalacia, Ce...	OMIM:616368
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pyloric stenosis, Pol...	ORPHA:464306
Adnp Syndrome	Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Oral-pharyngeal dysphagi...	ORPHA:404448
Primary Sclerosing Cholangitis	Osteopenia, Hypoalbuminemia, Osteoporosis	ORPHA:171
6Q Terminal Deletion Syndrome	Joint laxity, Prominent metopic ridge, Short neck, Micrognathia, High, narrow palate, Abnormal ce...	ORPHA:75857
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Carpal bone hypoplasia, Hiatus h...	OMIM:601162
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
3Mc Syndrome 3	Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Cleft palate	OMIM:248340
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga...	ORPHA:1328
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Accelerated skeletal maturation, Hypochloremia	ORPHA:90794
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Contrac...	OMIM:617527
Gm1 Gangliosidosis Type 1	Macroglossia, Flared iliac wing, Short long bone, Flattened femoral head, Acetabular dysplasia, B...	ORPHA:79255
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Hydrocep...	OMIM:619534
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Thin upper lip vermilion, Wide nasal bridge, Leukoencephalopathy, Cereb...	ORPHA:572798
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Polydactyly	ORPHA:314655
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Kyphoscoliosis, Joint stiffness, Micrognathia, Dysplastic corpus callos...	OMIM:618820
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Coxa valga, Flared metaphysis, Hip dislocation, Cone-shaped ...	OMIM:309350
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Dental crowding, Kyphoscoliosis, Dysplastic corpus callosum, Kyphosis, High, narrow...	OMIM:300967
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Duodenal atresia	OMIM:243605
Aspartylglucosaminuria	Beaking of vertebral bodies, Mandibular prognathia, Joint stiffness, Abnormality of the dentition...	ORPHA:93
Au-Kline Syndrome	Overlapping toe, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Coxa valga, ...	OMIM:616580
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Downturned corners of mouth, ...	ORPHA:500150
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, Elevated circul...	OMIM:614866
Congenital Sialidosis Type 2	Polydactyly, Protruding tongue	ORPHA:93400
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Smooth philtrum, Microcephaly, Deep philtrum, Wide mouth, Colpocephaly, Hypoplasia of the corpus ...	OMIM:617260
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Smooth philtrum, Thin ...	OMIM:619841
Bladder Exstrophy And Epispadias Complex	Anteriorly placed anus, Abnormal pelvic girdle bone morphology	OMIM:600057
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac...	ORPHA:268882
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly	OMIM:615849
Gabriele-De Vries Syndrome	Micrognathia, Abnormality of the dentition, Cortical dysplasia, Thick lower lip vermilion, Pierre...	OMIM:617557
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Microcephaly, Micrognathia, Flexion contracture, Gingival overgrowth,...	OMIM:614098
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Narrow mouth, Hypoalbuminemia, Microcephaly	OMIM:614748
Orofaciodigital Syndrome I	Syndactyly, Hamartoma of tongue, Cleft palate, Tongue nodules, Short 2nd toe, Lobulated tongue, P...	OMIM:311200
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Microdontia, Advanced eruption of teeth, J...	OMIM:615873
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Microcephaly, Micrognathia, Contracture of the distal interphalangeal j...	ORPHA:83617
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Intestinal ...	OMIM:249000
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po...	OMIM:192350
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Wide nasal bridge, Wide mouth, Fuse...	OMIM:157800
Autosomal Recessive Spastic Paraplegia Type 11	Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call...	ORPHA:2822
Pmm2-Cdg	Osteopenia, Joint laxity, Mandibular prognathia, Multiple joint contractures, Thin upper lip verm...	ORPHA:79318
Joubert Syndrome 14	Cleft palate, Postaxial polydactyly	OMIM:614424
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High palate, Overla...	OMIM:300960
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Microcephaly, Micrognathi...	OMIM:606170
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Cranio...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Cranio...	ORPHA:352665
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Primary microcephaly, Hyperalaninemia	OMIM:619847
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Craniosynostosis, Postaxial polydactyly, High, narr...	OMIM:614976
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Wormian bones, Microcephaly, Micrognathia, Downturned corners of mouth,...	ORPHA:444077
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, ...	OMIM:616546
Degcags Syndrome	Osteopenia, Syndactyly, Toe syndactyly, Jejunal atresia, Craniosynostosis, Protruding tongue, Ora...	OMIM:619488
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Joint hypermo...	ORPHA:457284
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect	ORPHA:959
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Polydactyly, Gastroesophageal reflux	ORPHA:17
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Hydrocephalus, Hemiver...	OMIM:164210
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed eruption of primary teeth	OMIM:300952
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Cerebrooculonasal Syndrome	Postaxial polydactyly, Craniosynostosis, Postaxial hand polydactyly, Narrow palate, Cleft palate,...	OMIM:605627
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Postaxial hand polydactyly, Cleft palate,...	OMIM:613610
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Abnormality of canine, Wide nasal bridge, Colpocephaly, Widely spaced t...	ORPHA:477993
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Dysplastic corpus callosum, W...	OMIM:619426
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly	OMIM:617397
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Abnormal fore...	ORPHA:3404
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Short hard palate, ...	OMIM:180700
Rabson-Mendenhall Syndrome	Furrowed tongue, Macroglossia, High palate, Polydactyly, Intrauterine growth retardation	ORPHA:769
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda...	OMIM:610168
Pallister-Hall Syndrome	Bifid uvula, Mesoaxial polydactyly, Radial bowing, Microglossia, Polydactyly affecting the 4th fi...	ORPHA:672
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Hyperextensible thumb, Joint laxity, Congenital hip dislocation, Hallux valgus, Overl...	ORPHA:480880
Bloom Syndrome	Malar flattening, Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Microcephaly	OMIM:210900
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tongue furrow, Short...	OMIM:312870
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Joint laxity, Thin upper lip vermilion, Dental crowding, Kyphoscoliosis, Dysplastic corpus callos...	ORPHA:466791
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pyloric stenosis, Dysp...	ORPHA:268261
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Monosomy 9Q22.3	Palmar pits, Joint hyperflexibility, Polydactyly	ORPHA:77301
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Wide nasal bridge, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia, Desmoid tumors	ORPHA:137605
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Cleft palate, Hip dyspla...	ORPHA:2729
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis, Hydrocep...	OMIM:306955
Witteveen-Kolk Syndrome	High, narrow palate, Cortical dysplasia, Short philtrum, High palate, Hyperplasia of the maxilla,...	OMIM:613406
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Microcephaly, Micrognathia, Abnormality of the den...	OMIM:147920
Mullegama-Klein-Martinez Syndrome	Cleft palate, Submucous cleft of soft and hard palate, Polydactyly, Clinodactyly of the 5th finge...	OMIM:301022
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Colpocephaly, Agenesis of co...	OMIM:309801
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hydrocephalus, Lateral ventricle dilatation, Short philtrum, Dilated third v...	OMIM:619575
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Thin vermilion border, High...	OMIM:619869
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Cog1-Cdg	Osteopenia, Rhizomelia, Coxa valga, Flat acetabular roof, Short long bone, High palate, Talipes e...	ORPHA:263508
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Cleft upper l...	OMIM:607872
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Polydactyly, Osteoporosis of vertebrae, Abnormal digit morphology, Median cleft lip a...	ORPHA:95494
Orofaciodigital Syndrome Xiv	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, Preaxial polydactyly, Aplasia of t...	OMIM:615948
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Large basal gangl...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Large basal gangl...	ORPHA:261552
Choreoacanthocytosis	Caudate atrophy, Temporomandibular joint crepitus, Elevated circulating creatine kinase concentra...	ORPHA:2388
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Cerebral calcification, Osteomalacia, Abnormal calcification of the carp...	ORPHA:51608
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Microcephaly, Cleft upper lip, High, narro...	OMIM:309800

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 Aff3

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 Aff3.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.	American journal of human genetics (May 2021)	Aff3^{tm1a(EUCOMM)Wtsi}	33961779
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Aff3^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Aff3^{tm1a(EUCOMM)Wtsi} Aff3^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Aff3^{tm1a(EUCOMM)Wtsi} Aff3^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Aff3^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Aff3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Aff3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Aff3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Aff3 MGI:106927

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Legacy Phenotype Associated Images

Human diseases caused by Aff3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data