Gene Summary

Name:
ankyrin repeat domain 11
Synonyms:
3010027A04Rik,  9530048I21Rik,  2410104C19Rik,  Yod

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased startle reflex Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 3.25×10-07
abnormal embryo development Ankrd11tm1b(EUCOMM)Wtsi HOM E9.5 0.00
decreased heart weight Ankrd11Yod HET Early adult 4.39×10-05
abnormal response to new environment Ankrd11Yod HET Early adult 6.52×10-05
abnormal startle reflex Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.05×10-16
decreased bone mineral density Ankrd11Yod HET Early adult 2.79×10-09
increased circulating cholesterol level Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.62×10-06
abnormal head morphology Ankrd11Yod HET   Early adult 9.55×10-06
abnormal retina vasculature morphology Ankrd11Yod HET Early adult 1.43×10-05
decreased prepulse inhibition Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.55×10-06
increased circulating HDL cholesterol level Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 4.46×10-05
preweaning lethality, complete penetrance Ankrd11tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased body length Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 2.69×10-07
abnormal vitreous body morphology Ankrd11tm1b(EUCOMM)Wtsi HET Early adult 1.64×10-05
decreased lean body mass Ankrd11Yod HET Early adult 8.98×10-05
abnormal auditory brainstem response Ankrd11tm1b(EUCOMM)Wtsi HET   Early adult 1.22×10-12
increased total body fat amount Ankrd11Yod HET Early adult 6.54×10-05
increased bone mineral content Ankrd11Yod HET Early adult 5.52×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

3 Images

Embryo LacZ

LacZ images wholemount

2 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Ankrd11 mutations

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

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

The table below shows human diseases predicted to be associated to Ankrd11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Persistence of primary teeth, Genu valgu... OMIM:265900
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Spinal canal stenosis, Lumbar hyperlordosis, J... OMIM:277600
Ck Syndrome
Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Prominent nasal bri... OMIM:300831
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Limitation of joint mobility, Pathologic fracture, Abnormal cortical b... ORPHA:166277
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Hypoplasia of the odontoid process, Delayed e... OMIM:600373
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Grant Syndrome
Depressed nasal bridge, Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Large... ORPHA:2097
Achard Syndrome
Joint hypermobility, Brachycephaly, Micrognathia, Broad skull OMIM:100700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones, Scoliosis, Recur... ORPHA:53697
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hypermobility, Microcephaly, Wormian bones, Osteoporosis, Frontal bossing ORPHA:2787
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Generalized osteoporosis, Kyph... OMIM:277950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Delayed pat... ORPHA:163649
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ... ORPHA:970
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Hypoplasia of the maxilla, Flexion contracture of toe, Spinal canal steno... OMIM:608328
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Failure to thrive, Prominent nose, Hypoplasia of the prima... OMIM:234250
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Vertebral wedging, Abnormal form of the vertebral bodies, Frontal bossing... ORPHA:40
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Proteus Syndrome
Depressed nasal bridge, Mandibular hyperostosis, Facial hyperostosis, Macrocephaly, Splenomegaly,... OMIM:176920
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Vertebral wedging, Anterior radial head dis... OMIM:610967
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Depressed nasal bridge, Kyphosis, Congenital bilateral hip dislocation... ORPHA:85288
Metatropic Dysplasia
Depressed nasal bridge, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abn... ORPHA:2635
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Multiple small vertebral fractures, Decreased circulating osteocalcin ... OMIM:619795
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Wide nasal bridge, Depressed nasal bridge, Sclerosis of skull base, Anteverted nar... OMIM:313420
Osteochondrosis Of The Metatarsal Bone
Progressive joint destruction, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones... ORPHA:564003
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Frontal bossing, Micrognathia, Protrusio acetabuli, Bowing of limbs du... OMIM:259420
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platy... OMIM:271530
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholo... ORPHA:1802
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... OMIM:259440
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia OMIM:607250
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Reduced bone mineral density, Small for gestational age, Delayed... OMIM:618392
Potocki-Shaffer syndrome
Parietal foramina, Delayed cranial suture closure DECIPHER:34
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin calvarium, Micrognathia, Obtuse angle of mandible, Wormian bones, Parietal bossi... ORPHA:85184
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of interphalangeal joints, Delay... OMIM:613849
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density, Abn... ORPHA:3152
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hao-Fountain Syndrome
Premature adrenarche, Trigonocephaly, Large fontanelles, Delayed cranial suture closure OMIM:616863
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis, Joint contracture, Ankle clonus OMIM:611225
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteogenesis Imperfecta, Type Xi
Osteopenia, Dentinogenesis imperfecta, Vertebral wedging, Increased susceptibility to fractures, ... OMIM:610968
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal ossification involving the femoral head and neck, A... ORPHA:2114
Pycnodysostosis
Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Frontal bossing, Persistence o... OMIM:265800
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Scaphocephaly, Abnormal cortical bone morphology, Prominence o... OMIM:614886
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Massively thickened l... ORPHA:1798
Parastremmatic Dwarfism
Genu valgum, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Multiple suture craniosynostosis, Secondary microcephaly, Trigonocephaly, Smal... ORPHA:3369
Pycnodysostosis
Carious teeth, Delayed cranial suture closure, Hepatosplenomegaly, Micrognathia, Delayed eruption... ORPHA:763
Chondrodysplasia Punctata, Autosomal Dominant
Frontal bossing, Epiphyseal stippling, Hip contracture, Knee flexion contracture, Hypoplasia of t... OMIM:118650
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognathia, Dentinogene... OMIM:616294
Gorham-Stout Disease
Osteopenia, Abnormal calvaria morphology, Abnormality of the temporomandibular joint, Cortical ir... ORPHA:73
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Congenital hypothyroidism, Increased body ... OMIM:614450
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Fronta... OMIM:112240
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Wide nasal bridge, Carious teeth, Rickets, Delayed eruption of t... OMIM:277440
Coccidioidomycosis
Granuloma, Abnormality of the vertebral column, Osteomyelitis, Abnormality of the spleen, Abscess... ORPHA:228123
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hip contracture, Protrusio acetabuli, Osteopenia, Hypoplasia of the maxilla, Ankle ... OMIM:259600
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Craniosynostosis 6
Plagiocephaly, Right unilambdoid synostosis, Parietal foramina, Delayed cranial suture closure, B... OMIM:616602
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Depressed nasal bridge, Kyphosis, Microcephaly, Scoliosis, Hip dislocation OMIM:300434
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Micrognathia, Abnormal corti... ORPHA:1486
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Summitt Syndrome
Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Obesity, Genu valgum, Prominent me... ORPHA:3210
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Micrognathia, Microcephaly, Short n... OMIM:614541
Osteopathia Striata-Cranial Sclerosis Syndrome
Wide nasal bridge, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Retrognathia,... ORPHA:2780
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Microcephaly, Splenomegaly ORPHA:2204
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Osteogenesis Imperfecta, Type Xviii
Wide nasal bridge, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, ... OMIM:617952
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Failure to thrive, Elevated ... OMIM:264700
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture... ORPHA:2771
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Sclerosis of skull base, Genu valgum, Wormian bones, Cubi... OMIM:269300
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Incr... OMIM:166220
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Choanal atresia, Underdeveloped nasal alae, Hyperextensibility of the finger joints, Microcephaly... ORPHA:163979
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Micrognathia, Vertebral segmentation defect, Microcephaly, Convex nasal ridge, Sco... ORPHA:2617
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Wide anterior fontanel, Anteverted nares, Micrognathia, Large for gestati... OMIM:618272
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Frontal bossing, Anteverted nares, Obesity, Genu valgum, Joint ... OMIM:300602
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Wormian bones, Brachyc... OMIM:604757
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti... ORPHA:1310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Abnormality of the cervical spine, Hypogonadotropic hypogonadism, Finger joint cont... ORPHA:48431
Melnick-Needles Syndrome
Craniofacial hyperostosis, Anisospondyly, Delayed eruption of teeth, Frontal bossing, Delayed cra... ORPHA:2484
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Depressed nasal bridge, Dental malocclusion, Typ... ORPHA:61
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Dysplastic sacrum, Anteverted nares, Lar... OMIM:613320
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Hip dislocation, Limitation of joint mobility, Abnormal form of the verte... ORPHA:3098
Potocki-Shaffer Syndrome
Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Turricephaly, Wormian bones, Bra... OMIM:601224
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Pterygium, Elbow flexion contracture... OMIM:259450
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Joint swelling, Large fontanelles, Osteoarthr... ORPHA:1525
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Achondroplasia
Thoracolumbar kyphosis, Depressed nasal bridge, Hip joint hypermobility, Cervical spinal canal st... ORPHA:15
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Truncal obesity, Macrocephaly, Scoliosis, Kyphosis, Short nose ORPHA:2429
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Microcephaly, Delayed puberty, Anemia, Scoliosis, Kyphosis, Short nose ORPHA:2598
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Microcephaly, Wormia... OMIM:259410
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Delayed cranial suture closure, Narrow nasal bridge, Abnormality of the wr... ORPHA:2511
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperostosis, Scoliosis, Kyphosis OMIM:112350
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Enlargement of the wrists, Sparse bo... OMIM:600081
Autism Spectrum Disorder Due To Auts2 Deficiency
Wide nasal bridge, Joint contracture of the hand, Small for gestational age, Congenital contractu... ORPHA:352490
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Abnormal middle ear morphology, Hyperchol... OMIM:182290
Flynn-Aird Syndrome
Carious teeth, Joint stiffness, Primary adrenal insufficiency, Type II diabetes mellitus, Abnorma... ORPHA:2047
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Delayed eruption of teeth, Failure ... ORPHA:289157
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Scoliosis, Frontal bossing, Kyphosis, Wide nose ORPHA:276630
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Failur... OMIM:241530
Diastrophic Dysplasia
Depressed nasal bridge, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, El... ORPHA:628
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Depressed nasal bridge, Small for gestational age, Arthrogryposis multiplex co... OMIM:615834
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Genu recurvatum, Kyphosis, Delayed eruption of teeth, ... ORPHA:137834
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Recurrent fractures, Thickened calvaria, Thickened cortex of... OMIM:607634
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Kyphoscoliosis, Decreased body wei... OMIM:614856
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Large pos... ORPHA:95717
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Anosmia, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Joint hyper... OMIM:619718
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Depressed nasal bridge, Hypoplasia of the odontoid process, Caudal ... OMIM:156530
Trigonocephaly 1
Lumbar hemivertebrae, Wide nasal bridge, Trigonocephaly, Microcephaly, Metopic synostosis, Cranio... OMIM:190440
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hip dislocation, Lumbar hyperlordosis, Obesity, Microcephaly, Scoliosis, Kyphosis OMIM:616756
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Hyperextensibility of the finger joints, In... OMIM:231070
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis OMIM:619638
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Absence of the sacrum, Limi... ORPHA:79106
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Failure to thri... ORPHA:536516
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Obesity, Micrognathia, Prominent nasal bridge, Recurrent f... ORPHA:3409
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... OMIM:600785
ERI1-related disease
Platyspondyly, Osteopenia, Depressed nasal bridge, Hip dislocation, Failure to thrive, Frontal bo... OMIM:608739
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Wide nasal bridge, Fractured radius, Anteverted nares, Micrognathia, D... OMIM:616897
Mucopolysaccharidosis Type 4
Platyspondyly, Carious teeth, Joint dislocation, Spinal canal stenosis, Abnormal dental enamel mo... ORPHA:582
Bethlem Myopathy 2
Kyphosis, Distal joint hypermobility, Scoliosis, Hip dislocation, Flexion contracture OMIM:616471
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiple... OMIM:618393
Arthrogryposis, Distal, Type 4
Osteopenia, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal ar... OMIM:609128
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Failure to thrive, Delayed cranial suture closure, Hypopituitarism, Decre... OMIM:613038
Mucopolysaccharidosis, Type Iva
Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ... OMIM:253000
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Recurrent fractures, Decreased calvarial os... OMIM:610915
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont... OMIM:600175
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contracture of f... OMIM:601812
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Action tremor, Hyperuricemia ORPHA:77296
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Microretrognathia, Recurrent fractures, Decreased calvarial ossificati... OMIM:616229
Gomez-Lopez-Hernandez Syndrome
Skull asymmetry, Decreased response to growth hormone stimulation test, Anteverted nares, Turrice... OMIM:601853
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental malocclusion, Failure to thrive, Pathologic fracture, Decreased serum l... OMIM:614008
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure, Decreased skull ossification, Microcephaly, Congen... ORPHA:93324
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Prominent metopic ridge ORPHA:85317
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter... ORPHA:93284
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperos... OMIM:144750
Lowry-Maclean Syndrome
Osteopenia, Hypoplasia of the maxilla, Choanal atresia, Widely patent coronal suture, Retrognathi... ORPHA:2409
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Abnormal calvaria morphology, Joint contracture of the hand, Delayed cranial s... OMIM:175700
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Scoliosis, Kyphosis, Failure to thrive OMIM:618234
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Micrognathia, Genu valgum, Laryngotracheomalacia, ... ORPHA:94068
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Failure to thrive, Frontal bossing, Bulbous nose, Large f... OMIM:612940
Sandhoff Disease
Splenomegaly, Kyphosis, Failure to thrive, Macrocephaly ORPHA:796
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Platyspondyly, Thoracolumbar kyphosis, Small for gestational age... ORPHA:93360
Tenorio Syndrome
Osteopenia, Mandibular prognathia, Delayed cranial suture closure, Anteverted nares, Joint hyperm... OMIM:616260
Desbuquois Dysplasia 1
Platyspondyly, Depressed nasal bridge, Microretrognathia, Joint dislocation, Obesity, Joint hyper... OMIM:251450
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Thickened calvaria, ... OMIM:301900
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Brachyce... OMIM:615761
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Slender build, Prominent nasal bridge, Macrocep... OMIM:300676
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Plagiocephaly, Failure to thrive, Thoracic hemivertebrae, Frontal bossing,... OMIM:619721
Familial Osteodysplasia, Anderson Type
Depressed nasal ridge, Carious teeth, Failure of eruption of permanent teeth, Abnormal form of th... ORPHA:2769
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Cleidocranial Dysplasia
Depressed nasal bridge, Carious teeth, Scoliosis, Delayed eruption of teeth, Hypoplasia of the zy... ORPHA:1452
Ullrich Congenital Muscular Dystrophy
Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity o... ORPHA:75840
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Elevated circulating growth hormone concentra... ORPHA:249
Antley-Bixler Syndrome
Choanal atresia, Hypoplasia of the zygomatic bone, Delayed cranial suture closure, Camptodactyly ... ORPHA:83
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Recurrent fractures, Large fontanelles, Wormian bones, Absent ossification of calv... OMIM:166210
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Isosexual ... ORPHA:2788
Autosomal Recessive Primary Microcephaly
Microcephaly, Abnormal cortical bone morphology ORPHA:2512
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Bicoronal synostosis, Microcephaly, Brachycephaly, Delayed closure o... OMIM:618736
Weismann-Netter Syndrome
Abnormal form of the vertebral bodies, Abnormality of the thyroid gland, Abnormal cortical bone m... ORPHA:3344
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Congenital Arthrogryposis With Anterior Horn Cell Disease
Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Microcephaly, Short neck, Scolios... OMIM:611890
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, P... ORPHA:371428
Coffin-Siris Syndrome 6
Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Retrognathia, Micrognathia, Kyphoscoliosi... OMIM:617808
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Pterygium, Increased susceptibility to frac... OMIM:609220
Myasthenic Syndrome, Congenital, 25, Presynaptic
Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Mcdonough Syndrome
Mandibular prognathia, Dental malocclusion, Underdeveloped nasal alae, Prominent nose, Micrognath... ORPHA:2471
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxil... OMIM:300280
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Depressed nasal bridge, Elevated circul... ORPHA:95716
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Frontal bossing, Abnormal denta... ORPHA:2050
Temple Syndrome
Recurrent otitis media, Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Delayed eruption of teeth, Dislocation of the femoral head, Delayed c... OMIM:619797
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Polyarticular a... ORPHA:289176
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Hypoplastic acetabul... OMIM:607326
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphos... ORPHA:2983
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Micrognathia,... ORPHA:77300
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Prominent nasal bridge, Short neck, Dolichocephaly, Flexion c... ORPHA:178148
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Progressive microcephaly, Kyphosis, Failure to thrive OMIM:620007
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Frank-Ter Haar Syndrome
Osteopenia, Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Delayed cranial suture ... OMIM:249420
Galactokinase Deficiency
Sensorineural hearing impairment, Hypercholesterolemia, Hypergalactosemia, Increased level of gal... ORPHA:79237
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Micro... ORPHA:2863
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnorma... ORPHA:2658
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Increased circulating... ORPHA:3240
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Microcephaly, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:617404
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Carious teeth, Thickened calvaria, Osteoporosis, Scoliosis, Recurrent ... OMIM:126550
Autosomal Recessive Spastic Paraplegia Type 53
Microcephaly, Kyphosis, Failure to thrive, Joint hypermobility ORPHA:319199
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Osteogenesis Imperfecta, Type I
Osteopenia, Dentinogenesis imperfecta, Otosclerosis, Biconcave flattened vertebrae, Increased sus... OMIM:166200
Craniosynostosis 4
Lambdoidal craniosynostosis, Coronal craniosynostosis, Depressed nasal bridge, Ectopic posterior ... OMIM:600775
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Micrognathia, Convex nasal ridge, Joint contracture, Osteoporosis, Scoliosis, ... OMIM:615381
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Ruvalcaba Syndrome
Underdeveloped nasal alae, Narrow nose, Limited elbow extension, Microcephaly, Delayed puberty, S... OMIM:180870
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Retinal degeneration, Macu... OMIM:619260
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Failure to thrive, Frontal bossing, Large fontanelles, Joint hypermob... OMIM:219150
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Masa Syndrome
Microcephaly, Kyphosis, Hyperlordosis, Macrocephaly OMIM:303350
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ... OMIM:253010
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Hyperplasia of the maxilla, A... ORPHA:2976
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... OMIM:610489
Megalocornea-Intellectual Disability Syndrome
Wide nasal bridge, Osteopenia, Frontal bossing, Micrognathia, Joint hypermobility, Microcephaly, ... ORPHA:2479
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Micrognathia, Joint hypermobili... ORPHA:2789
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Micrognathia, Microcephaly, Short neck, Hyperlordosis, Convex n... ORPHA:2522
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Bulbous nose, Anteverted nares, Prominent nasal bridge, Kyphoscoliosis, Thickened calvaria, Short... OMIM:309583
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Hip dislocation, Laryngotracheomalacia, Genu valgum, Delayed patellar... OMIM:603546
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... OMIM:271510
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, Recurrent fractures OMIM:619131
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Large posterior fontanelle, Delayed c... ORPHA:85199
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Platyspondyly, Osteopenia, Hypoplasia of the zygomatic bone, Frontal bossing, Trigonocephaly, Mic... OMIM:620663
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Crisponi Syndrome
Limitation of joint mobility, Camptodactyly of finger, Anteverted nares, Micrognathia, Flexion co... ORPHA:1545
Zimmermann-Laband Syndrome 3
Wide nasal bridge, Flexion contracture, Broad nasal tip, Kyphosis OMIM:618658
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... OMIM:610475
Smith-Magenis Syndrome
Conductive hearing impairment, Hypercholesterolemia, EEG abnormality, Retinal detachment, Hypertr... ORPHA:819
Osteogenesis Imperfecta, Type X
Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Relative macrocephaly, Micrognathia, Genu v... OMIM:613848
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... ORPHA:93314
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Knee flexion contracture, Hyperlordosis, Achilles tendon contracture, Scoliosis,... OMIM:615290
Congenital Myopathy 22A, Classic
Wide nasal bridge, Frontal bossing, Scaphocephaly, Micrognathia, Knee contracture, Hip contractur... OMIM:620351
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ... ORPHA:357058
Laron Syndrome
Hypercholesterolemia ORPHA:633
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Anteverted nares, Micrognathia, Obesity, Type II diabetes mellitus, S... ORPHA:3191
Hallermann-Streiff Syndrome
Natal tooth, Micrognathia, Tracheomalacia, Narrow nose, Parietal bossing, Small for gestational a... OMIM:234100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Schaaf-Yang Syndrome
Mandibular prognathia, Arthrogryposis multiplex congenita, Retrognathia, Frontal bossing, Failure... OMIM:615547
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Hip dislocation, Arthrogryposis multiplex congenita, Micrognathia, Mu... OMIM:618291
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Flexion contractu... OMIM:619040
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nasal bridge, Retrognathia, Failure to thrive, Delayed cranial suture closure, Trigonocephal... ORPHA:2995
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Pelger-Huet Anomaly
Depressed nasal bridge, Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei... OMIM:169400
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont... OMIM:177170
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Retrognathia, Failure to thrive, Kyphoscoliosis, Microcephaly, Hyp... OMIM:618005
Hajdu-Cheney Syndrome
Micrognathia, Decreased skull ossification, Short neck, Patellar dislocation, Wide nose, Osteopen... ORPHA:955
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Joint stiffness, Microcephaly, Scoliosis, Kyphosis ORPHA:816
19P13.12 Microdeletion Syndrome
Precocious puberty, Arthrogryposis multiplex congenita, Narrow nasal bridge, Anteverted nares, Ob... ORPHA:254346
Cleidocranial Dysplasia 1
Micrognathia, Delayed pubic bone ossification, Large fontanelles, Delayed eruption of primary tee... OMIM:119600
Osteogenesis Imperfecta
Carious teeth, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Large fontanelles, Decreas... ORPHA:666
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Lateral Meningocele Syndrome
Sclerosis of skull base, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Thickened... OMIM:130720
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperinsulinemia, Micrognath... OMIM:608612
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Failure to thrive, Sea-blue histiocytosis, Joint stiffness... OMIM:230600
Osteogenesis Imperfecta, Type Xx
Plagiocephaly, Retrognathia, Bulbous nose, Kyphoscoliosis, Microcephaly, Brachycephaly, Wormian b... OMIM:618644
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Plagiocephaly, Dental malocclusion, Scaphocephaly, Wide cranial sutures, Front... OMIM:619149
O'Donnell-Luria-Rodan Syndrome
Dolichocephaly, Kyphosis, Macrocephaly OMIM:618512
Menkes Disease
Joint hypermobility, Wormian bones, Brachycephaly, Microcephaly, Osteoporosis OMIM:309400
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Delayed eruption of primary teeth, Microcephaly, Wormian bones, F... OMIM:619322
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Wide anterior fontanel, Macrocephaly OMIM:601356
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Mandibular prognathia, Bulbous nose, Microcephaly, Scoliosis, Kyphosis, S... ORPHA:261144
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, Mi... ORPHA:508533
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Hypogonadism, Bulbous nose, Joint hypermobility, Delayed puberty, Abdomin... OMIM:300354
Thanatophoric Dysplasia
Platyspondyly, Depressed nasal bridge, Joint stiffness, Joint hypermobility, Abnormal sacroiliac ... ORPHA:2655
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Delayed cranial suture ... OMIM:603116
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Arthrogryposis multiplex congenita, Kyphoscoliosis, Flexion contracture of finger, Flex... OMIM:618484
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Hajdu-Cheney Syndrome
Micrognathia, Genu valgum, Crowded carpal bones, Short neck, Dislocated radial head, Wide nose, O... OMIM:102500
Dysosteosclerosis
Platyspondyly, Osteopenia, Natal tooth, Delayed eruption of teeth, Sclerosis of hand bone, Sclero... OMIM:224300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Plagiocephaly, Broad columella, Delayed cranial suture closure, Narrow nasal b... OMIM:619383
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Kyphosis, Failure to thrive OMIM:618237
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Six2-Related Frontonasal Dysplasia
Depressed nasal bridge, Broad nasal tip, Metopic synostosis, Premature posterior fontanelle closu... ORPHA:488437
Wieacker-Wolff Syndrome
Hip dislocation, Arthrogryposis multiplex congenita, Retrognathia, Anteverted nares, Micrognathia... OMIM:314580
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure, Thin calvarium, Micrognathia, Frontal bossing, Short nose ORPHA:1129
Shashi-Pena Syndrome
Broad nasal tip, Retrognathia, Cervical C2/C3 vertebral fusion, Macrocephaly, Osteoporosis, Scoli... OMIM:617190
Sialidosis Type 2
Osteoporosis, Flexion contracture, Kyphosis, Splenomegaly ORPHA:87876
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hip dislocation, Synostosis of carpal bones, Abnormal dental enamel morphology, Prominent nose, J... ORPHA:1005
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Dolichocephaly, Joint stiffness, Scoliosis, Kyphosis ORPHA:1548
Wieacker-Wolff Syndrome, Female-Restricted
Hip dislocation, Microretrognathia, Anteverted nares, Hip contracture, Limited shoulder movement,... OMIM:301041
Idiopathic Juvenile Osteoporosis
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis ORPHA:85193
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Large fontanelles, Arthropathy, Thickened calvaria, Wor... OMIM:259100
Oculodentodigital Dysplasia
Carious teeth, Abnormal form of the vertebral bodies, Cranial hyperostosis, Abnormality of the no... ORPHA:2710
Hemifacial Atrophy, Progressive
Kyphosis, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Delayed cranial suture closure, Os odontoideum, Joint hypermobility, Microcephaly, Wo... OMIM:616603
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Bicoronal synostosis, Prominent na... OMIM:619951
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia ORPHA:96184
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Plagiocephaly, Abnormal form of the vertebral bodies, Elbow dislocation, A... ORPHA:2916
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Osteopenia, Platyspondyly, Wide nasal bridge, Increased vertebral ... OMIM:620662
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Gen... ORPHA:3206
3M Syndrome
Congenital hip dislocation, Delayed eruption of teeth, Frontal bossing, Abnormal dental enamel mo... ORPHA:2616
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cubitus valgus, Kyphosis, Joint hypermobility ORPHA:1875
Leptin Deficiency Or Dysfunction
Hypogonadism, Recurrent upper respiratory tract infections, Obesity, Decreased serum leptin OMIM:614962
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Kleefstra Syndrome 2
Microcephaly, Plagiocephaly, Scoliosis, Kyphosis OMIM:617768
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Micrognathia, Large fontanelles, Humeroradial synostosis, Anterio... OMIM:151050
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hip dislocation, Failure to thrive, Splenomegaly, Microcephaly, Short nec... OMIM:608776
Van Maldergem Syndrome 1
Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Dental malocclusion, Tracheomalacia, Sa... OMIM:601390
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Joint swelling, S... ORPHA:2796
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Scoliosis, Dental malocclusion, Kyphosis ORPHA:1858
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Plagiocephaly, Abnormal form of the vertebral ... ORPHA:794
Stickler Syndrome, Type I
Platyspondyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint stiffness, Spondylol... OMIM:108300
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Osteopenia, Depressed nasal bridge, Fractured rib, Hyperparathyroidism, Anteve... OMIM:618188
Osteogenesis Imperfecta, Type Vii
Osteopenia, Dentinogenesis imperfecta, Delayed cranial suture closure, Protrusio acetabuli, Decre... OMIM:610682
Parietal Foramina 1
Wormian bones, Parietal foramina, Macrocephaly OMIM:168500
Craniolenticulosutural Dysplasia
Wide nasal bridge, Osteopenia, Carious teeth, Posterior wedging of vertebral bodies, Delayed erup... OMIM:607812
Faciocardiomelic Syndrome
Osteopenia, Depressed nasal bridge, Dental malocclusion, Hyperplasia of the maxilla, Anteverted n... OMIM:612731
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Lumbar hyperlord... OMIM:223800
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Elbow flexion co... OMIM:248370
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Increased bone mineral density, Recurrent fractures, Thickened cal... OMIM:239000
Progressive Non-Infectious Anterior Vertebral Fusion
Wide nasal bridge, Depressed nasal bridge, Proximal radio-ulnar synostosis, Abnormality of the ve... ORPHA:2062
15Q24 Microdeletion Syndrome
Wide nasal base, Depressed nasal bridge, Small for gestational age, Failure to thrive, Decreased ... ORPHA:94065
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Trisomy 20P
Platyspondyly, Plagiocephaly, Abnormal form of the vertebral bodies, Frontal bossing, Camptodacty... ORPHA:261318
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal ... OMIM:252600
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Kbg Syndrome
Underdeveloped nasal alae, Persistent open anterior fontanelle, Anteverted nares, Prominent nasal... ORPHA:2332
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Puberty and gonadal disorders, Obesity, Microcephaly, Scoliosis, Hip dislocation ORPHA:464282
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Frontal bossing, Joint hypermobility, Shoulder dislocation, Scoliosis, Kyphosis ORPHA:2181
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal a... OMIM:101200
Thanatophoric Dysplasia Type 1
Platyspondyly, Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac joint morphology, Clo... ORPHA:1860
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim... OMIM:183900
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Mandibular prognathia, Slend... ORPHA:364028
Gm1 Gangliosidosis
Platyspondyly, Depressed nasal ridge, Depressed nasal bridge, Broad nasal tip, Coarse metaphyseal... ORPHA:354
Camurati-Engelmann Disease
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Abnormality of the vertebr... ORPHA:1328
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Prominent nose, Obesity, Joint hypermobility, Microcephaly... ORPHA:85293
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Abnormal form of the vertebral bodies, Camptodactyly of finger, Anteverte... ORPHA:2311
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
D-Bifunctional Protein Deficiency
Depressed nasal bridge, Osteopenia, Retrognathia, Failure to thrive, Delayed cranial suture closu... OMIM:261515
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Bipartite p... ORPHA:85188
Silver-Russell Syndrome 1
Delayed cranial suture closure, Decreased response to growth hormone stimulation test, Micrognath... OMIM:180860
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Ruvalcaba Syndrome
Synostosis of carpal bones, Abnormal vertebral epiphysis morphology, Microcephaly, Delayed pubert... ORPHA:3121
Ullrich Congenital Muscular Dystrophy 1A
Hip dislocation, Failure to thrive, Slender build, Wrist hypermobility, Increased laxity of finge... OMIM:254090
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Hypophosphatem... OMIM:300554
Hurler Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the odontoid process, Broad nasal tip, C... OMIM:607014
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Memory impairment, Depression, Cardiomyopathy, Irritability, Abnormal retinal vasc... ORPHA:247691
Neuhauser Syndrome
Cupped ear, Retinal detachment, Hypercholesterolemia, Large fleshy ears OMIM:249310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Microcephaly, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Sc... OMIM:606612
Mandibuloacral Dysplasia
Contractures of the large joints, Insulin-resistant diabetes mellitus, Delayed cranial suture clo... ORPHA:2457
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Splenomegaly, Anterior beaking of lumbar vertebrae, Scolio... OMIM:230650
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Frontal bossing, Large fontanelles, Short neck, Scoliosis, Kyphosis ORPHA:238750
Schwartz-Jampel Syndrome
Elbow dislocation, Micrognathia, Genu valgum, Hip contracture, Decreased body weight, Short neck,... ORPHA:800
Thanatophoric Dysplasia Type 2
Platyspondyly, Depressed nasal bridge, Limitation of joint mobility, Joint hypermobility, Macroce... ORPHA:93274
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio... OMIM:618476
Van Maldergem Syndrome 2
Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Depressed nasal bridge, Dental malocclu... OMIM:615546
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Prominence of the premaxilla, Decre... OMIM:602535
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Large posterior fontanelle, Delayed cranial suture closure, Hypopitu... ORPHA:226307
Zimmermann-Laband Syndrome 2
Bifid nasal tip, Underdeveloped nasal alae, Short neck, Prominent nasal septum, Kyphosis OMIM:616455
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Failure to ... ORPHA:90674
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Mandibular prognathia, Kyphosis OMIM:300861
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Anteverted nares, Micrognathia, Microcepha... OMIM:248700
Wrinkly Skin Syndrome
Wide nasal bridge, Osteopenia, Congenital hip dislocation, Carious teeth, Microretrognathia, Dela... OMIM:278250
Marinesco-Sjogren Syndrome
Failure to thrive, Microcephaly, Cubitus valgus, Flexion contracture, Scoliosis, Kyphosis, Hyperg... OMIM:248800
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure, Postnatal macrocephaly, Persistence of primary tee... ORPHA:93325
Fibrochondrogenesis 1
Platyspondyly, Depressed nasal bridge, Joint contracture of the hand, Anteverted nares, Short nec... OMIM:228520
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Depressed nasal bridge, Hypoplasia of the odontoid process, Broad nasal tip, Antev... OMIM:300232
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Delayed cranial suture closure, Failure to thrive in in... ORPHA:813
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Failure to thrive, Kyphoscolio... ORPHA:2962
Ogden Syndrome
Microretrognathia, Underdeveloped nasal alae, Enlarged naris, Frontal bossing, Delayed cranial su... ORPHA:276432
Campomelic Dysplasia
Depressed nasal bridge, Hip dislocation, Tracheomalacia, Macrocephaly, Micrognathia, Recurrent fr... ORPHA:140
Typical Nemaline Myopathy
Hip dislocation, Arthrogryposis multiplex congenita, Micrognathia, Genu valgum, Short neck, Hyper... ORPHA:171436
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Depressed nasal bridge, Joint dislocation, Thoracic platys... OMIM:618019
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Trisomy 9P
Impacted tooth, Microcephaly, Short neck, Brachycephaly, Abnormal nasal morphology, Scoliosis, Ky... ORPHA:236
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Decreased serum estradiol, Absence of secondary sex characteri... ORPHA:2232
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, EEG with generalized slow activity OMIM:617864
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis, Kyphosis, Hypergonadotropic ... ORPHA:3085
Distal Triplication 15Q
Retrognathia, Large for gestational age, Micrognathia, Camptodactyly, Craniosynostosis, Flexion c... ORPHA:314588
Hypomelanosis Of Ito
Microcephaly, Scoliosis, Kyphosis, Macrocephaly OMIM:300337
Harrod Syndrome
Dental malocclusion, Failure to thrive, Joint hypermobility, Microcephaly, Long nose, Scoliosis, ... ORPHA:2115
Ectodermal Dysplasia-Sensorineural Deafness Syndrome