Gene Summary

AF4/FMR2 family, member 3
Laf4,  LAF-4,  3222402O04Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Aff3tm1a(EUCOMM)Wtsi HOM   Early adult 2.26×10-06
fusion of vertebral arches Aff3tm1a(EUCOMM)Wtsi HOM Early adult 7.64×10-06
abnormal vertebral arch morphology Aff3tm1a(EUCOMM)Wtsi HOM Early adult 3.07×10-07
decreased grip strength Aff3tm1a(EUCOMM)Wtsi HOM Early adult 5.01×10-05
decreased circulating fructosamine level Aff3tm1a(EUCOMM)Wtsi HOM Early adult 3.74×10-05
abnormal vertebral arch morphology Aff3tm1a(EUCOMM)Wtsi HET Early adult 5.92×10-08
abnormal incisor morphology Aff3tm1a(EUCOMM)Wtsi HOM Early adult 2.74×10-07
abnormal snout morphology Aff3tm1a(EUCOMM)Wtsi HOM Early adult 5.93×10-05
decreased circulating serum albumin level Aff3tm1a(EUCOMM)Wtsi HOM   Early adult 6.15×10-06
vertebral transformation Aff3tm1a(EUCOMM)Wtsi HOM Early adult 1.79×10-06
increased circulating chloride level Aff3tm1a(EUCOMM)Wtsi HOM Early adult 1.70×10-05
increased circulating alkaline phosphatase level Aff3tm1a(EUCOMM)Wtsi HOM Early adult 1.79×10-05

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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%
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%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Skull Dorso Ventral Orientation

28 Images


XRay Images Whole Body Dorso Ventral

28 Images


XRay Images Whole Body Lateral Orientation

27 Images


XRay Images Skull Lateral Orientation

25 Images


XRay Images Forepaw

21 Images

Legacy Phenotype Associated Images

View all 151 images

View all 12 images

View all 7 images

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.

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

Disease Similarity of
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 Similarity of
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
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
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
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
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
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
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
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
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
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... OMIM:146000
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
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
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
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
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
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
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
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
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
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