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Gene: Ankrd11 MGI:1924337

Gene Summary

Name:

ankyrin repeat domain 11

Synonyms:

3010027A04Rik, 9530048I21Rik, 2410104C19Rik, Yod

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Ankrd11^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating HDL cholesterol level	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	4.46×10^-05
abnormal startle reflex	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.05×10^-16
increased bone mineral content	Ankrd11^Yod	HET	Early adult	5.52×10^-09
increased total body fat amount	Ankrd11^Yod	HET	Early adult	6.54×10^-05
abnormal embryo development	Ankrd11^{tm1b(EUCOMM)Wtsi}	HOM	E9.5	0.00
abnormal retina vasculature morphology	Ankrd11^Yod	HET	Early adult	1.43×10^-05
decreased body length	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.69×10^-07
abnormal response to new environment	Ankrd11^Yod	HET	Early adult	6.52×10^-05
decreased prepulse inhibition	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.55×10^-06
decreased lean body mass	Ankrd11^Yod	HET	Early adult	8.98×10^-05
abnormal auditory brainstem response	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.10×10^-12
abnormal vitreous body morphology	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.58×10^-05
decreased startle reflex	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.25×10^-07
increased circulating cholesterol level	Ankrd11^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.62×10^-06
abnormal head morphology	Ankrd11^Yod	HET	Early adult	9.55×10^-06
decreased bone mineral density	Ankrd11^Yod	HET	Early adult	2.79×10^-09

Download data as: TSV XLS

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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

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Gross Morphology Embryo E9.5

Images

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

2 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by 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.

Human diseases associated with Ankrd11 (3 diseases)
Human diseases predicted to be associated with Ankrd11 (765 diseases)

The table below shows human diseases associated to Ankrd11 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Prominent nasal bridge, ...	ORPHA:2332
16Q24.3 Microdeletion Syndrome	Frontal bossing, Anteverted nares, Micrognathia, Kyphosis, Increased mean corpuscular volume, Bip...	ORPHA:261250
Kbg Syndrome	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Short neck, Microcephaly, Underdevelo...	OMIM:148050

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

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Li...	OMIM:265900
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad s...	OMIM:277600
Ck Syndrome	Prominent nasal bridge, Hyperlordosis, Microcephaly, Kyphosis, Micrognathia, Retrognathia, Scolio...	OMIM:300831
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp...	ORPHA:3416
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Concave nasal ridge, Dolichocephaly, Wormian bones, Pathologic frac...	ORPHA:166277
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, ...	OMIM:600373
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Achard Syndrome	Joint laxity, Broad skull, Brachycephaly, Micrognathia	OMIM:100700
Grant Syndrome	Joint dislocation, Frontal bossing, Depressed nasal bridge, Micrognathia, Large fontanelles, Brac...	ORPHA:2097
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex...	ORPHA:53697
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones	ORPHA:2787
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den...	ORPHA:970
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor...	OMIM:277950
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet...	OMIM:271530
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Increased bone mineral density, Anteverted nares, Ovoid vertebral bodies, Depres...	ORPHA:163649
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad s...	OMIM:608328
Hall-Riggs Syndrome	Anteverted nares, Depressed nasal bridge, Microcephaly, Prominent nose, Kyphosis, Osteoporosis, I...	OMIM:234250
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, ...	ORPHA:40
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Proteus Syndrome	Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal steno...	OMIM:176920
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Depressed nasal bridge, Kyphosis, Congenital bilateral hip dislocation...	ORPHA:85288
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon...	OMIM:619795
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Joint s...	ORPHA:2635
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Progressive joint ...	ORPHA:564003
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor...	OMIM:313420
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Wormian bones, Recurrent fractures, Severe generalized osteoporosis, Protrusio a...	OMIM:259420
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Short neck, Microcephaly, Micrognathia, Large fontanelles, Depressed nasal ridg...	ORPHA:1832
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical...	ORPHA:1802
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal...	OMIM:618392
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior...	ORPHA:85184
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Abn...	ORPHA:3152
Hao-Fountain Syndrome	Trigonocephaly, Premature adrenarche, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Dysostosis, Stanescu Type	Narrow nasal bridge, Increased bone mineral density, Persistent open anterior fontanelle, Wormian...	ORPHA:1798
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ...	ORPHA:2114
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Brachycephaly...	OMIM:610968
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Delayed eru...	OMIM:265800
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Cole-Carpenter Syndrome 2	Osteopenia, Frontal bossing, Turricephaly, Wide cranial sutures, Microretrognathia, Recurrent fra...	OMIM:616294
Parastremmatic Dwarfism	Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Micrognathia, Dentinogenesis imperfecta, Verteb...	OMIM:112240
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Metopic suture patent to nasal root, Premature posterior fontanelle cl...	ORPHA:3369
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Prominent...	OMIM:614886
Hypothyroidism, Congenital, Nongoitrous, 6	Relative macrocephaly, Delayed eruption of teeth, Increased body mass index, Congenital hip dislo...	OMIM:614450
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal occipital bone mo...	ORPHA:73
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fr...	OMIM:277440
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphys...	OMIM:118650
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the endocrine system, Broad skull, Abnormali...	ORPHA:228123
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Convex nasal ridge, Limited elbow movement, Joint stiffn...	OMIM:614008
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ...	OMIM:616602
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Metatarsal osteolysis, Campto...	OMIM:259600
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormality of the e...	ORPHA:1486
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Depressed nasal bridge, Microcephaly, Kyphosis, Hip dislocation, Scoliosis	OMIM:300434
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Frontal bossing, Increased bone mineral density, Flat occiput, Hyperlo...	ORPHA:2780
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Small for gestational age, Micr...	OMIM:614541
Summitt Syndrome	Prominent metopic ridge, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ri...	ORPHA:3210
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Wide nasal bridge, Biconcave v...	OMIM:617952
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Microcephaly	ORPHA:2204
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra...	OMIM:277460
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Carious teeth, Wide anterior fontanel, Genu valgu...	OMIM:269300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fr...	OMIM:264700
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Sco...	ORPHA:48431
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Craniosynostosis, Trigonocephaly, Dolichocephaly, Scaphocephaly, Wide nasal brid...	OMIM:175700
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial...	ORPHA:289157
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Choanal atresia, Microcephaly, Underdeveloped nasal alae...	ORPHA:163979
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst...	OMIM:616267
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b...	ORPHA:2771
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ...	OMIM:166220
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Short neck, Kyphosis, S...	ORPHA:61
Microcephalic Primordial Dwarfism, Montreal Type	Microcephaly, Micrognathia, Kyphosis, Carious teeth, Reduced bone mineral density, Vertebral segm...	ORPHA:2617
Melnick-Needles Syndrome	Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Anisospondyly, Micrognathi...	ORPHA:2484
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Sacral dimple, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for...	OMIM:618272
Clark-Baraitser syndrome	Joint laxity, Frontal bossing, Genu recurvatum, Anteverted nares, Broad nasal tip, Kyphosis, Obes...	OMIM:300602
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole...	OMIM:208920
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Diastrophic Dysplasia	Joint dislocation, Increased bone mineral density, Depressed nasal bridge, Camptodactyly of finge...	ORPHA:628
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Large fontanelles, Arthritis, Joint swe...	ORPHA:1525
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Abnormality of the thyroid gland, Kyphosis, Carious teeth, Bone cyst, ...	ORPHA:2047
Craniosynostosis 2	Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Supernumer...	OMIM:604757
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, Small for gestational age, ...	OMIM:613320
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog...	OMIM:231070
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Depressed nasal bridge, Microcephaly, Short neck, Wide anterior fontanel...	ORPHA:3098
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Microcephaly, Kyphosis, Scoliosis, Delayed puberty, Short nose, Anemia	ORPHA:2598
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis	OMIM:112350
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Kyphosis, Truncal obesity, Scoliosis, Macrocephaly, Short nose	ORPHA:2429
Potocki-Shaffer Syndrome	Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Wor...	OMIM:601224
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Microcephaly, Multiple prenatal fractures, Decreased calvarial ossification, Bowin...	OMIM:259410
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Hyperlordosis, Large font...	ORPHA:2511
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Calvarial osteosclerosis, Mandibular pain, Abnormality of the vertebr...	OMIM:607634
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fractures, Delayed epiphyseal...	OMIM:600081
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Anteverted nares, Small for gestational age, Microcephaly, Micrognathia, Kyp...	ORPHA:352490
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fractures, Decreased circulat...	OMIM:241530
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Kyphosis, Supernumerary tooth, Ag...	OMIM:619718
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitar...	OMIM:613038
Achondroplasia	Frontal bossing, Short nasal bridge, Lumbar hyperlordosis, Anteverted nares, Depressed nasal brid...	ORPHA:15
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O...	OMIM:614856
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Anteverted nares, Depressed nasal bridge, Small for gestational age, Microce...	OMIM:615834
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Frontal bossing, Wide nose, Kyphosis, Obesity, Scoliosis	ORPHA:276630
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Depre...	ORPHA:137834
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Microcephaly, Kyphosis, Hip dislocation, Obesity, Scoliosis	OMIM:616756
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95717
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Spondylometaphyseal Dysplasia, Pagnamenta Type	Wormian bones, Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchond...	OMIM:156530
Trigonocephaly 1	Craniosynostosis, Microcephaly, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosis, Trig...	OMIM:190440
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Delay...	ORPHA:79106
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract...	ORPHA:536516
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Anteverted nares, Decreased response to growth hormone stimulation test, Craniosyno...	OMIM:601853
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, EEG abnormality, Hypercholesterolemia, Hearing impairment	OMIM:182290
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis, Prominent nasal...	ORPHA:3409
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Elevat...	OMIM:600785
Desbuquois Dysplasia 1	Joint laxity, Joint dislocation, Microretrognathia, Depressed nasal bridge, Phalangeal dislocatio...	OMIM:251450
Bethlem Myopathy 2	Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c...	ORPHA:93360
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Fetal Akinesia Deformation Sequence 4	Micrognathia, Short neck, Kyphosis, Wide nasal bridge, Camptodactyly, Arthrogryposis multiplex co...	OMIM:618393
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Arthrogryposis, Distal, Type 4	Osteopenia, Depressed nasal bridge, Kyphosis, Cranial asymmetry, Camptodactyly of 2nd-5th fingers...	OMIM:609128
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Bulbou...	OMIM:612940
Mucopolysaccharidosis Type 4	Joint dislocation, Anteverted nares, Abnormal dental enamel morphology, Short neck, Hyperlordosis...	ORPHA:582
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a...	OMIM:610915
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Anteverted nares, Small for gestational age, Microcephaly, Multiple...	OMIM:616897
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Autosomal Recessive Kenny-Caffey Syndrome	Microcephaly, Carious teeth, Cortical thickening of long bone diaphyses, Congenital hypoparathyro...	ORPHA:93324
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Action tremor	ORPHA:77296
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:85317
Cleidocranial Dysplasia	Mandibular prognathia, Micrognathia, Brachycephaly, Spina bifida occulta, Decreased skull ossific...	ORPHA:1452
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Frontal bossing, Prominent metopic ridge, Mandibular prognathia, Microcephaly, Doli...	OMIM:619721
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Microcephaly, Micrognathia, Hy...	ORPHA:2409
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Osteoporosis, Scoliosis	OMIM:618234
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb...	OMIM:113000
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Small for gestational age, Recurrent fractures, Decreased calvaria...	OMIM:616229
Mucopolysaccharidosis, Type Iva	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short ...	OMIM:253000
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive, Macrocephaly	ORPHA:796
Borjeson-Forssman-Lehmann Syndrome	Microcephaly, Kyphosis, Obesity, Scoliosis, Delayed puberty, Thickened calvaria, Scheuermann-like...	OMIM:301900
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Fibrous Dysplasia Of Bone	Abnormal occipital bone morphology, Thyroid carcinoma, Patchy reduction of bone mineral density, ...	ORPHA:249
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Prominent nose, Elbow dislocation, Kyphosis, Long nos...	ORPHA:2769
Congenital Muscular Dystrophy, Ullrich Type	Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion contractu...	ORPHA:75840
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Scoliosis, Ma...	OMIM:300676
Tenorio Syndrome	Osteopenia, Joint laxity, Mandibular prognathia, Wide nose, Anteverted nares, Scoliosis, Macrocep...	OMIM:616260
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Anteverted nares, Depressed nasal bridge, Hyperlordosis, Micrognathia, Kyphosis, B...	OMIM:615761
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Frontal bossing, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased ...	ORPHA:2788
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Microcephaly, Kyphosis, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, ...	OMIM:611890
Osteogenesis Imperfecta, Type Ii	Small for gestational age, Recurrent fractures, Multiple prenatal fractures, Absent ossification ...	OMIM:166210
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly, Brachycephaly, Lambdoidal...	OMIM:618736
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly of finger, Recurrent fractures, Cr...	ORPHA:83
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abn...	ORPHA:3344
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Turricephaly, Recurrent fractures, Abnormal dental en...	ORPHA:2050
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology, Microcephaly	ORPHA:2512
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Large posterior fontanelle, Depressed nasal bridge, Thyroid ...	ORPHA:95716
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bon...	ORPHA:371428
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Coffin-Siris Syndrome 6	Frontal bossing, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, Plagiocep...	OMIM:617808
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Leptin Deficiency Or Dysfunction	Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Decreased serum leptin	OMIM:614962
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Prominent nose, Micrognathia, Kyphosis, Underdeveloped nasal ala...	ORPHA:2471
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Uruguay Faciocardiomusculoskeletal Syndrome	Wide nose, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Prominent nose, Ky...	OMIM:300280
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Microcephaly, Short neck, Hypoplasia of the odontoid proc...	OMIM:607326
Craniosynostosis 4	Ectopic posterior pituitary, Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, La...	OMIM:600775
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Hypogonadism, Short nose, Spina ...	ORPHA:2983
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Progressive microcephaly	OMIM:620007
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Microcephaly, Kyphosis, Underdeveloped nasal alae, Depressed nasal ridge, Wide nasa...	ORPHA:77300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Joint hyperflexibility, Hypogonadism, Kyphosis	ORPHA:1875
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Lenz-Majewski Hyperostotic Dwarfism	Thickened calvaria, Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel...	ORPHA:2658
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis, Thickened...	OMIM:126550
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Posteriorly rotated ears	OMIM:616222
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Anteverted nares, Delayed cranial suture closure, Anterior concavity of...	OMIM:249420
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Hyperlordosis, Spinal rigidity, Kyphosis, Microcephaly, Scoliosis	OMIM:617404
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na...	ORPHA:2863
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Short neck, Microcephaly, Kyphosis, Hip dislocation, Bra...	OMIM:608776
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Failure to thrive, Kyphosis, Microcephaly	ORPHA:319199
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Sensorineural hearing impairment, ...	ORPHA:79237
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Prominent nasal bridge, Short neck, Kyphosis, Flexion contracture, Scoliosis, Dolichocephaly, Art...	ORPHA:178148
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Laryngotracheomalacia, Thoracic kyphosis, Neutropenia, Lumbar ...	OMIM:271510
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Diabetes mellitus, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Male hypogonadism, Joint cont...	OMIM:615381
Ruvalcaba Syndrome	Microcephaly, Underdeveloped nasal alae, Kyphosis, Scoliosis, Delayed puberty, Limited elbow exte...	OMIM:180870
Masa Syndrome	Kyphosis, Macrocephaly, Hyperlordosis, Microcephaly	OMIM:303350
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Relative macrocephaly, Thoracic scoliosis, Micrognathia, Generalized jo...	OMIM:613848
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra...	OMIM:619260
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Large font...	OMIM:219150
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Frontal bossing, Microcephaly, Micrognathia, Kyphosis, Wide nasal bridge, Joint hyper...	ORPHA:2479
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Large posterior fontanelle, Tarsal synostosis, Abnormal dental enamel morphology...	ORPHA:85199
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Short neck, Hyperlordosis, Kyphosis, Microgna...	ORPHA:2789
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Microcephaly, Micrognathia, Fused cervical vertebrae, Abnorm...	ORPHA:2522
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility	OMIM:619131
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Recurrent fract...	OMIM:309583
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Mucopolysaccharidosis, Type Ivb	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Joint ...	OMIM:253010
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Prominent nose, Flat ace...	ORPHA:2976
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Abnormal acetabulum morphology, Limb joint contracture, Lumbar hyperlordo...	ORPHA:93314
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Micrognathia, Kyphosis, F...	OMIM:618291
Crisponi Syndrome	Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture...	ORPHA:1545
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Parietal bossing, Increased bone mineral densi...	OMIM:119600
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Kyphoscoliosis, Microcephaly, Multiple prenatal fractures, Bulbous nose, B...	OMIM:618644
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi...	OMIM:619040
Six2-Related Frontonasal Dysplasia	Frontal bossing, Depressed nasal bridge, Small for gestational age, Broad nasal tip, Abnormality ...	ORPHA:488437
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis...	OMIM:219080
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Subaortic Stenosis-Short Stature Syndrome	Anteverted nares, Short neck, Micrognathia, Kyphosis, Obesity, Type II diabetes mellitus, Scolios...	ORPHA:3191
Schaaf-Yang Syndrome	Mandibular prognathia, Frontal bossing, Failure to thrive in infancy, Kyphosis, Flexion contractu...	OMIM:615547
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, EEG abnormality, Conductive hearing impairment, Hyperch...	ORPHA:819
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture, Wide nasal bridge, Broad nasal tip	OMIM:618658
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Large fontanelles, Brach...	OMIM:603116
Hallermann-Streiff Syndrome	Micrognathia, Brachycephaly, Parietal bossing, Hyperlordosis, Supernumerary tooth, Scoliosis, Tra...	OMIM:234100
Congenital Myopathy 22A, Classic	Hip contracture, Frontal bossing, Thoracic scoliosis, Spinal rigidity, Micrognathia, Kyphosis, Ac...	OMIM:620351
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Genu recurvatum, Ulnar deviation of th...	OMIM:177170
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Microcephaly, Joint stiffness, Kyphosis, Scoliosis	ORPHA:816
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Micrognathia, Insulin-resistant diabetes mellitus, Flexion contracture, Hyper...	OMIM:608612
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Joint stiffness, Abnormal sacroiliac j...	ORPHA:2655
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Kyphoscoliosis, Microcephaly, Hip dislocation, Wide nasal bridge, ...	OMIM:618005
Stickler Syndrome, Type I	Arthropathy, Anteverted nares, Depressed nasal bridge, Joint stiffness, Micrognathia, Kyphosis, O...	OMIM:108300
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Micrognathia, Hypoplasia of the ma...	OMIM:601390
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Pelger-Huet Anomaly	Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Kyphosis, Hyposegmentation o...	OMIM:169400
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Sea-blue h...	OMIM:230600
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Decreased skull ossification, Anteverted nares, Dolichoceph...	ORPHA:955
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Delayed cranial sut...	ORPHA:1129
Marbach-Rustad Progeroid Syndrome	Convex nasal ridge, Delayed eruption of primary teeth, Microcephaly, Micrognathia, Reduced bone m...	OMIM:619322
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Anteverted nares, Craniosynostosis, Microcephaly, Precocious puberty, Short ...	ORPHA:254346
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Frontal bossing, Delayed eruption of teeth, Natal tooth, Scle...	OMIM:224300
Lateral Meningocele Syndrome	Vertebral fusion, Wormian bones, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Sco...	OMIM:130720
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Wide nose, Failure to thrive, Microcephaly, Joint stiffness, Short neck,...	ORPHA:2995
Menkes Disease	Joint laxity, Microcephaly, Osteoporosis, Brachycephaly, Wormian bones	OMIM:309400
Kleefstra Syndrome 2	Microcephaly, Kyphosis, Plagiocephaly, Scoliosis, Midface retrusion	OMIM:617768
Autosomal Recessive Cutis Laxa Type 2A	Frontal bossing, Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial...	ORPHA:357058
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Platyspondyly, Macrocephaly	OMIM:601356
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy	OMIM:609541
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Macrocephaly, Dolichocephaly	OMIM:618512
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Microcephaly, Kyphosis, B...	ORPHA:261144
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Relative macrocephaly, Mandibular prognathia, Depressed nasal bridge, Kyphosis, Bul...	OMIM:300354
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Dislocated radial head, Joint laxity, Anteverted nares, Ost...	OMIM:102500
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Long nose, T lymphocytopeni...	ORPHA:508533
Wieacker-Wolff Syndrome	Anteverted nares, Microcephaly, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Hip dislocatio...	OMIM:314580
Lessel-Kreienkamp Syndrome	Frontal bossing, Wide cranial sutures, Scaphocephaly, Dental malocclusion, Wide nasal bridge, Pla...	OMIM:619149
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
3M Syndrome	Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Anteverted nares, Abnorma...	ORPHA:2616
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti...	OMIM:259100
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Flexion contracture	OMIM:618237
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypos...	OMIM:618484
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Abnormal dental enamel morphology, Microcephaly, Joint stiffness, Kyphosis, Promine...	ORPHA:1005
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Anteverted nares, Microcephaly, Short neck, Kyphosis, Achille...	OMIM:301041
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis, Dolichocephaly, Joint stiffness	ORPHA:1548
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Flat occiput, Anteverted nares, Flexion contracture, Wide nasal bridge, Plag...	OMIM:619383
Sialidosis Type 2	Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Shashi-Pena Syndrome	Broad nasal tip, Kyphosis, Osteoporosis, Scoliosis, Macrocephaly, Cervical C2/C3 vertebral fusion...	OMIM:617190
Craniolenticulosutural Dysplasia	Osteopenia, Frontal bossing, Joint laxity, Delayed eruption of teeth, Anteverted nares, Prominent...	OMIM:607812
Oculodentodigital Dysplasia	Mandibular prognathia, Narrow nasal bridge, Anteverted nares, Camptodactyly of finger, Abnormal d...	ORPHA:2710
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Elbow dislocation, Ky...	ORPHA:2916
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Micrognathia, Metopic depression, Hepatosp...	ORPHA:313855
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Convex nasal ridge, Narrow nasal ridge, Joint stiffness, Micrognathia, Insulin-resist...	OMIM:248370
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Microcephaly, Hip dislocation, Wormian bones, Delayed c...	OMIM:616603
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Micrognathia, Hypoplasia of the...	OMIM:257850
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Sacral dimple, Recurrent fractures, Camptodactyly of f...	ORPHA:3206
Pachydermoperiostosis	Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi...	ORPHA:2796
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Kyphosis, Dental malocclusion, Scoliosis	ORPHA:1858
Body Mass Index Quantitative Trait Locus 19	Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia	OMIM:617885
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Recurrent fractures, Protrusio acetabuli, Multiple prenatal fra...	OMIM:610682
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Wide cranial sutures, Sacral dimple, Depressed nasal bridge, Micrognath...	OMIM:615546
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Parietal Foramina 1	Parietal foramina, Wormian bones, Macrocephaly	OMIM:168500
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch...	OMIM:101200
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis...	ORPHA:794
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Large for gesta...	OMIM:612731
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Mandibular prognathia, Lumbar hyperlordosis, Microcephaly, Multicent...	OMIM:223800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Short neck, Broad nasal tip, Hypoplasia...	OMIM:300232
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Depressed nasal bridge, Camptodactyly of finger, Joint hypermobility, Micrognathia, Prominent nas...	OMIM:619951
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Wide cranial sutures, Hyperparathyroidism, Anteverted nares, Recurre...	OMIM:618188
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Relative macrocephaly, Increased bone mineral density, Recurrent fractures, Ankylosis...	OMIM:239000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti...	ORPHA:226307
15Q24 Microdeletion Syndrome	Joint laxity, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Prom...	ORPHA:94065
Late-Infantile/Juvenile Krabbe Disease	Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Camurati-Engelmann Disease	Delayed eruption of teeth, Frontal bossing, Cachexia, Hyperlordosis, Carious teeth, Kyphosis, Spl...	ORPHA:1328
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Genu recurvatum, Kyphosis, Brachycephaly, Scoliosis, Macroce...	ORPHA:364028
Thanatophoric Dysplasia Type 1	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Joint stiffness, Wide anterior fontane...	ORPHA:1860
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Inc...	ORPHA:79474
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Trisomy 20P	Frontal bossing, Anteverted nares, Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, B...	ORPHA:261318
Gm1 Gangliosidosis	Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Joint st...	ORPHA:354
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae	OMIM:230650
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Microcephaly, Puberty and gonadal disorders, Kyphosis, Hip dislocation, Obesity, Scoliosis	ORPHA:464282
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Prominent nasal bridge, ...	ORPHA:2332
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Bipartite patel...	ORPHA:85188
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis	ORPHA:2181
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy...	ORPHA:2298
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,...	ORPHA:2062
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
D-Bifunctional Protein Deficiency	Osteopenia, Frontal bossing, Failure to thrive, Depressed nasal bridge, Micrognathia, Splenomegal...	OMIM:261515
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Cachexia, Microcephaly, Short neck, Kyphosis, Prominent nose, Obesity, J...	ORPHA:85293
Silver-Russell Syndrome 1	Frontal bossing, Small for gestational age, Decreased response to growth hormone stimulation test...	OMIM:180860
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Grant Syndrome	Wormian bones, Micrognathia	OMIM:138930
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis...	ORPHA:77259
Mandibuloacral Dysplasia	Narrow nose, Micrognathia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypoplasia of t...	ORPHA:2457
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Anteverted nares, Camptodactyly of finger, Depressed nas...	ORPHA:2311
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio...	OMIM:254090
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Ruvalcaba Syndrome	Microcephaly, Kyphosis, Abnormality of the elbow, Scoliosis, Delayed puberty, Abnormal vertebral ...	ORPHA:3121
Hypophosphatemic Rickets, X-Linked Recessive	Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En...	OMIM:300554
Schwartz-Jampel Syndrome	Short neck, Micrognathia, Wrist flexion contracture, Increased bone mineral density, Abnormally o...	ORPHA:800
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Decreased skull ossification, Cortical thickening of...	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr...	OMIM:606612
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Bu...	OMIM:618476
4Q21 Microdeletion Syndrome	Frontal bossing, Depressed nasal bridge, Short neck, Kyphosis, Large fontanelles, Scoliosis	ORPHA:238750
Hurler Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Joint stiffness, Short neck, Hypoplasi...	OMIM:607014
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Relative macrocephaly, Frontal bossing, Joint dislocation, Depressed nasal bridge, Thoracolumbar ...	OMIM:618019
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Kyphosis, Limitation of joint mobility...	ORPHA:93274
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Thoracic kyphosis, Choanal stenosis, Decr...	OMIM:602535
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal...	ORPHA:99027
Marden-Walker Syndrome	Anteverted nares, Microcephaly, Short neck, Wide anterior fontanel, Kyphosis, Micrognathia, Radio...	OMIM:248700
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Joint hyper...	OMIM:278250
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Large posterior fontanelle, Failure to thrive, Depre...	ORPHA:90674
Marinesco-Sjogren Syndrome	Hypergonadotropic hypogonadism, Microcephaly, Kyphosis, Flexion contracture, Scoliosis, Cubitus v...	OMIM:248800
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Scoliosis	OMIM:300861
Silver-Russell Syndrome	Relative macrocephaly, Failure to thrive in infancy, Cachexia, Micrognathia, Precocious puberty, ...	ORPHA:813
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Zimmermann-Laband Syndrome 2	Underdeveloped nasal alae, Bifid nasal tip, Kyphosis, Short neck, Prominent nasal septum	OMIM:616455
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr...	ORPHA:529808
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe...	ORPHA:3085
Intellectual Developmental Disorder, Autosomal Dominant 57	Prominent nasal bridge, Craniosynostosis, Microcephaly, Broad nasal tip, Kyphosis, Contracture of...	OMIM:618050
Typical Nemaline Myopathy	Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocation, Micro...	ORPHA:171436
Fibrochondrogenesis 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short neck, Wide anterior fontanel, Wi...	OMIM:228520
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Depressed nasal bridge, Recurrent fractures, Short neck, Micr...	ORPHA:140
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Prader-Willi Syndrome	Osteopenia, Narrow nasal bridge, Hypogonadotropic hypogonadism, Decreased response to growth horm...	OMIM:176270
Trisomy 9P	Sacral dimple, Short neck, Microcephaly, Kyphosis, Abnormal nasal morphology, Brachycephaly, Impa...	ORPHA:236
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Flat occiput, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Mic...	ORPHA:2232
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2962
Distal Triplication 15Q	Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion contracture, Scolios...	ORPHA:314588
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Hypomelanosis Of Ito	Kyphosis, Macrocephaly, Scoliosis, Microcephaly	OMIM:300337
Ogden Syndrome	Microretrognathia, Frontal bossing, Underdeveloped nasal alae, Short columella, Scoliosis, Enlarg...	ORPHA:276432
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Progressive neurologic deterioration, Abnormal retinal vascular morphol...	ORPHA:247691
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Neuhauser Syndrome	Large fleshy ears, Hypercholesterolemia, Cupped ear	OMIM:249310
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Harrod Syndrome	Microcephaly, Long nose, Kyphosis, Dental malocclusion, Joint hyperflexibility, Scoliosis, Failur...	ORPHA:2115
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
3C Syndrome	Frontal bossing, Depressed nasal bridge, Adrenal hypoplasia, Short neck, Micrognathia, Kyphosis, ...	ORPHA:7
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity	OMIM:617864
Emanuel Syndrome	Broad jaw, Sacral dimple, Congenital hip dislocation, Delayed eruption of primary teeth, Microcep...	OMIM:609029
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Joint stiffness, Kyphosis, Genu valgum, Scoliosis	OMIM:252605
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Prominent nasal bridge, Craniosynostosis, Narrow nasal r...	OMIM:616914
Hennekam-Beemer Syndrome	Wide nose, Camptodactyly of finger, Micrognathia, Microcephaly, Long nose, Wide nasal bridge, Sco...	ORPHA:2135
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Posteriorly rotated ears, Low-set ears	OMIM:618598
Fountain Syndrome	Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Macrocepha...	ORPHA:3219
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi...	OMIM:616507
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Mucopolysaccharidosis Type 6	Failure to thrive, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly, R...	ORPHA:583
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Hearing impairment	OMIM:620114
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat...	OMIM:617821
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Koolen-De Vries Syndrome	Vertebral fusion, Abnormal dental enamel morphology, Prominent nasal bridge, Microcephaly, Underd...	ORPHA:96169
Baralle-Macken Syndrome	Kyphosis, Obesity, Microcephaly	OMIM:619255
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Prominent metopic ...	OMIM:614188
Coffin-Lowry Syndrome	Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Wide nose, Anteverted nare...	ORPHA:192
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Cohen Syndrome	Failure to thrive in infancy, Prominent nasal bridge, Microcephaly, Micrognathia, Kyphosis, Hypop...	ORPHA:193
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Abdominal o...	OMIM:219090
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Decreased serum leptin, Micrognathia, Microcephaly, Underdeveloped nasal ala...	OMIM:614098
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Depressed nasal bridge, Microcephaly, Kyphosis, Elbow fle...	OMIM:618493
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr...	ORPHA:79329
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Failure to thrive, Camptodactyly of finger, Prominent nasal bridge, Micr...	ORPHA:261349
Gapo Syndrome	Frontal bossing, Anteverted nares, Delayed cranial suture closure, Delayed closure of the anterio...	OMIM:230740
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Tremor, Optic atrophy, Pigmentary retinopathy, Increased blo...	ORPHA:90321
Aspartylglucosaminuria	Mandibular prognathia, Joint stiffness, Carious teeth, Splenomegaly, Wide nasal bridge, Arthritis...	ORPHA:93
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Frontal bossing, Narrow nasal bridge, Micrognathia, Short neck, Kyphosis	ORPHA:3082
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Anteverted nares, Thoracolumbar scoliosis, Prominent nasal bridge, Hyperlordosis, Microcephaly, K...	OMIM:618443
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Micrognathia, Narrow nasa...	ORPHA:280365
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prominent metopic ridge, Camptodactyly of finger, Prominent nasal bridge, Kyphosis, Abnormal mand...	ORPHA:2215
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Decreased hemoglobin concentration, Anteverted nares, Depressed nasal bridge, Mi...	OMIM:619005
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Diabetes mellitus, Sacral dimple, Phalangeal d...	ORPHA:536532
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Midface retrusion, Abnormal nasopharynx morphology, Increased density of...	OMIM:269150
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Nar...	ORPHA:740
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Depressed nasal bridge, Short neck, Microcephaly, Micrognath...	OMIM:616364
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurvatum, Kyphosis, Scoliosis	OMIM:609008
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Kyphosis, Brachycephaly, Dolichocephaly	OMIM:615433
Dent Disease 1	Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En...	OMIM:300009
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Micrognathia, Microcephaly, Kyphosis, Bulbous nose, Wide nasal bridge, Sc...	OMIM:617061
15Q14 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis, Convex nasal ridge	ORPHA:261190
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Narrow nasal bridge, Premature pubarche, Precocious puberty, Kyphosis, Flexion contra...	ORPHA:398069
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Brain abscess, Lumbar hyperlordosis, Depressed nasal bridge, Wide anterior fonta...	OMIM:616482
Rett Syndrome	Scoliosis, Increased serum leptin, Primary microcephaly, Failure to thrive, Progressive microcephaly	ORPHA:778
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Microcephaly, Kyphoscoliosis, Micrognathia, Kne...	OMIM:210730
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Flat occiput, Anteverted nares, Short neck, Microce...	OMIM:300966
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Narrow nose, Long nose, Kyphosis, Carious teeth, Scoliosis, Camptodactyly, Short...	OMIM:617602
Gm1-Gangliosidosis, Type I	Frontal bossing, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Dep...	OMIM:230500
Dubowitz Syndrome	Hypoparathyroidism, Delayed eruption of teeth, Sacral dimple, Depressed nasal bridge, Craniosynos...	ORPHA:235
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Obesity, Scoliosis	OMIM:618124
Arthrogryposis, Distal, Type 5	Limited wrist extension, Kyphosis, Distal arthrogryposis, Scoliosis, Congenital finger flexion co...	OMIM:108145
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal nasal morphology, Kyphosis, Brac...	ORPHA:404440
Jaberi-Elahi Syndrome	Depressed nasal bridge, Microcephaly, Joint stiffness, Kyphosis, Scoliosis, Short nose, Failure t...	OMIM:617988
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Alg9-Cdg	Microretrognathia, Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Delayed cran...	ORPHA:79328
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Sacral dimple, Small for gestational age, Prominent na...	OMIM:610443
Lopes-Maciel-Rodan Syndrome	Ankle clonus, Kyphosis, Scoliosis	OMIM:617435
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Thoracic hemivertebrae, Dislocated radial head, Joint la...	OMIM:268310
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky...	OMIM:615084
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98855
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr...	OMIM:615574
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb...	ORPHA:98863
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hearing impairment	OMIM:620327
Hurler-Scheie Syndrome	Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Contracture of th...	OMIM:607015
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Short neck, Hypoplasia of the odon...	OMIM:253220
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte...	ORPHA:3042
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Scoliosis	OMIM:614409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Sialidosis Type 1	Frontal bossing, Kyphosis, Splenomegaly, Wide nasal bridge, Abnormal form of the vertebral bodies...	ORPHA:812
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Ulna Hypoplasia-Intellectual Disability Syndrome	Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness	ORPHA:2249
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis, Progressive microcephaly	ORPHA:79327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Developmental And Epileptic Encephalopathy 49	EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy	OMIM:617281
Micro Syndrome	Anteverted nares, Microcephaly, Joint stiffness, Kyphosis, Micrognathia, Wide nasal bridge, Scoli...	ORPHA:2510
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growt...	ORPHA:1855
Cowden Syndrome 5	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Thy...	OMIM:615108
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Hypoplasia of the primary tee...	ORPHA:90322
Diamond-Blackfan Anemia 1	Failure to thrive, Macrocytic anemia, Short neck, Parietal foramina, Microcephaly, Micrognathia, ...	OMIM:105650
Trisomy 10P	Frontal bossing, Wide cranial sutures, Anteverted nares, Depressed nasal bridge, Small for gestat...	ORPHA:171929
Monosomy 9Q22.3	Delayed eruption of teeth, Short neck, Large for gestational age, Kyphosis, Joint hyperflexibilit...	ORPHA:77301
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Microcephaly, Joint stiffness, Kyphosis, Scoliosis	ORPHA:702
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Delayed closure of...	OMIM:127000
Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity...	ORPHA:98853
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Optic atrophy, Dystoni...	ORPHA:845
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Papilledema	OMIM:619471
Aymé-Gripp Syndrome	Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Limitation of joint mobility, ...	ORPHA:1272
Spondyloperipheral Dysplasia	Depressed nasal bridge, Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irreg...	OMIM:271700
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Osteoporosis, Increased ...	OMIM:259770
Schinzel-Giedion Syndrome	Short neck, Micrognathia, Choanal stenosis, Myeloid leukemia, Streak ovary, Wide anterior fontane...	ORPHA:798
Hartsfield Syndrome	Wide nose, Craniosynostosis, Microcephaly, Gonadotropin deficiency, Diabetes insipidus, Hypoplasi...	OMIM:615465
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Frontal bossing, Severe B lymphocytopenia, Depressed nasal bridge, Craniosynost...	OMIM:620005
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Ky...	OMIM:309350
Alexander Disease	Osteopenia, Frontal bossing, Diabetes mellitus, Short neck, Precocious puberty, Hyperlordosis, Ky...	ORPHA:58
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Depressed nasal bridge, Craniosynostosis, Limited wrist...	ORPHA:576
Cowden Syndrome 6	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Thy...	OMIM:615109
Craniotubular Dysplasia, Ikegawa Type	Anteverted nares, Dolichocephaly, Increased intervertebral space, Wide nasal bridge, Sclerosis of...	OMIM:619727
Atelis Syndrome 2	Frontal bossing, Sacral dimple, Microcephaly, Micrognathia, Kyphosis, Prominent nose, Elevated ci...	OMIM:620185
Cowden Syndrome 1	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Progressive macrocephaly, Thy...	OMIM:158350
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Low-set ears	OMIM:617301
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky...	ORPHA:352447
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Paraplegia 53, Autosomal Recessive	Joint hyperflexibility, Kyphosis	OMIM:614898
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment...	ORPHA:521426
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Large fontanelles, Hip dis...	ORPHA:198
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Microcephaly, Overweight, Kyphosis, Flexion contracture, Brachycephaly, Pl...	ORPHA:500055
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Camptodactyly of finger, Microcephaly, Short neck, Kyphosis, Micrognathi...	ORPHA:251014
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Cystic angiomatosis of bone, Diabetes mellitus, Decreased serum leptin, Sp...	OMIM:608594
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Micrognathia, Cach...	ORPHA:558
Mohr Syndrome	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Bifid nasal tip...	OMIM:252100
Saethre-Chotzen Syndrome	Narrow nose, Parietal foramina, Hypoplasia of the maxilla, Long nose, Oxycephaly, Cleft of chin, ...	OMIM:101400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Macrocephaly	OMIM:603387
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe...	ORPHA:90153
Cerebrotendinous Xanthomatosis	Resting tremor, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreas...	ORPHA:909
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Small for gestational age, Prominent nasal bridge, Delayed e...	OMIM:133540
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hypergonadotropic hypogonadism, Depressed nasal bridge, Microcephaly, Kyphosis, Flexi...	OMIM:212065
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Frontal bossing, Depressed nasal bridge, Elevated hemoglobin A1c, Narrow nasal ridge,...	OMIM:619127
Cono-Spondylar Dysplasia	Anteverted nares, Short neck, Kyphosis, Scoliosis, Failure to thrive, Midface retrusion	ORPHA:420794
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Scaphocephaly...	OMIM:309900
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Cystic angiomatosis of bone, Elevated hemoglobin A1c, Decreased serum lept...	OMIM:269700
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Zttk Syndrome	Relative macrocephaly, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Hypoplasia of t...	OMIM:617140
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Microcephaly, Ky...	OMIM:301040
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2834
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasa...	ORPHA:363958
16Q24.3 Microdeletion Syndrome	Frontal bossing, Anteverted nares, Micrognathia, Kyphosis, Increased mean corpuscular volume, Bip...	ORPHA:261250
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Coffin-Siris Syndrome 12	Micrognathia, Hypothyroidism, Joint laxity, Anteverted nares, Depressed nasal bridge, Dolichoceph...	OMIM:619325
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	External ear malformation, Exaggerated startle response, Dystonia	ORPHA:438216
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Kyphosis, Eruption failure, Secondary microcephaly, Scoliosis, Primary microcephaly...	ORPHA:476126
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Flat occiput, Micrognathia, Osteomalacia, Abnormal de...	ORPHA:534
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Prominent nasal bridge, Kyphoscoliosis...	ORPHA:457359
Atypical Rett Syndrome	Kyphosis, Secondary microcephaly, Scoliosis	ORPHA:3095
Acro-Renal-Mandibular Syndrome	Short neck, Micrognathia, Kyphosis, Hip dislocation, Hemivertebrae, Abnormality of the sense of s...	ORPHA:958
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Robinow Syndrome, Autosomal Dominant 3	Frontal bossing, Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathi...	OMIM:616894
Menkes Disease	Osteomyelitis, Tarsal synostosis, Recurrent fractures, Microcephaly, Micrognathia, Osteoporosis, ...	ORPHA:565
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Slender nose, Delayed eruption of primary teeth, Microcep...	OMIM:216400
Immunodeficiency 47	Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentration	OMIM:300972
Akt2-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin	ORPHA:79085
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Hypogonadotropic hypogonadism, Flat acetabular roof, Fused cervical vertebrae, Mac...	OMIM:617159
Rubinstein-Taybi Syndrome 1	Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture...	OMIM:180849
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Prominent nasal bridge, Obesity	ORPHA:261222
Isolated Exencephaly	Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal calvaria morph...	ORPHA:563612
Wolf-Hirschhorn Syndrome	Frontal bossing, Sacral dimple, Microcephaly, Micrognathia, Kyphosis, Osteoporosis, Wide nasal br...	ORPHA:280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Short neck, Micrognathia, Hypoplasia of the maxilla, Large for gestational...	ORPHA:96334
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Micrognathia, Kyphosis, Cessation of head growth, Congenital hypothyroidism, Contractures of the ...	OMIM:617527
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Anteverted nares, Recurrent fractures, Kyphoscoliosis, Prominent nasal bri...	ORPHA:3063
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Frontal bossing, Relative macrocephaly, Narrow nasal bridge, Slender build, Kyphosc...	OMIM:300967
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Dela...	OMIM:303600
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Capitate-hamate fusion, Kyphosis, Osteoporosis...	OMIM:304150
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Knee flexion contracture, Reduced ...	OMIM:259050
Weaver Syndrome	Mandibular prognathia, Flat occiput, Depressed nasal bridge, Kyphosis, Retrognathia, Macrocephaly...	OMIM:277590
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anteverted nares, Cachexia, Abnormality of the thyroid gland, Kyphosis, Midline defect of the nos...	ORPHA:1969
Noonan Syndrome 14	Prominent nasal bridge, Short neck, Kyphosis, Prominent nasolabial fold, Cubitus valgus, Lymphope...	OMIM:619745
Trisomy 13	Kyphosis, Scoliosis, Calvarial skull defect, Abnormality of the fontanelles or cranial sutures	ORPHA:3378
Dent Disease	Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En...	ORPHA:1652
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin	ORPHA:435651
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Small for gestational age, Microcephaly, Rickets, Reduced...	OMIM:613658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Verteb...	ORPHA:1724
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr...	ORPHA:324737
Genitopalatocardiac Syndrome	Micrognathia, Microcephaly, Kyphosis, Wide nasal bridge, Scoliosis	ORPHA:2075
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension	OMIM:268800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Microcephaly	ORPHA:500180
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Frontal bossing, Mandibular prognathia, Prominent nasal bridge, Hyperlordosis, Larg...	OMIM:617011
Microphthalmia, Lenz Type	Delayed eruption of teeth, Camptodactyly of finger, Hyperlordosis, Microcephaly, Kyphosis, Scoliosis	ORPHA:568
Lipe-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased serum leptin	ORPHA:435660
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment	ORPHA:79255
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Sacral dimple, Flat occiput, Large fontanelles, Brachycephaly, Depressed nasal ridge, Wide nasal ...	ORPHA:2211
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip ...	OMIM:309000
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Autosomal Recessive Robinow Syndrome	Frontal bossing, Sacral dimple, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge...	ORPHA:1507
Mend Syndrome	Sacral dimple, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Kyphosis, Abnormal n...	ORPHA:401973
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system	OMIM:120200
Basel-Vanagaite-Smirin-Yosef Syndrome	Anteverted nares, Microcephaly, Kyphosis, Scoliosis, Retrognathia	OMIM:616449
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Prominent nose, Brachycephaly, Microcephaly	OMIM:619244
Fucosidosis	Kyphosis, Brachycephaly, Anterior beaking of lumbar vertebrae, Failure to thrive, Hypothyroidism	ORPHA:349
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Otopalatodigital Syndrome, Type Ii	Frontal bossing, Congenital hip dislocation, Depressed nasal bridge, Elbow contracture, Delayed c...	OMIM:304120
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Spondyloocular Syndrome	Osteopenia, Platyspondyly, Decreased body weight, Vertebral compression fracture, Thin bony cortex	OMIM:605822
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Maternal diabetes, Short neck, Micrognath...	OMIM:300855
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Knee flexion contracture, Dolichocephaly, Lymphopenia	OMIM:619708
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Short nose, Brachycephaly, Wide nasal bridge, Radi...	OMIM:601088
Alagille Syndrome 1	Hypertriglyceridemia, Pigmentary retinopathy, Low-set ears, Hypercholesterolemia, Macrotia	OMIM:118450
Mend Syndrome	Microretrognathia, Sacral dimple, Prominent nasal bridge, Micrognathia, Kyphosis, Bulbous nose, S...	OMIM:300960
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system	ORPHA:231736
Proteus Syndrome	Neoplasm of the thymus, Abnormal form of the vertebral bodies, Abnormality of the wrist, Thick na...	ORPHA:744
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Brachycephaly, Midline defect of the nose, Bifid nose, Short nose, Mid...	OMIM:229400
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Anteverted nares, Microcephaly, Kyphosis, Scoliosis, Prominent nasal tip, ...	ORPHA:464738
Aspartylglucosaminuria	Joint laxity, Anteverted nares, Depressed nasal bridge, Microcephaly, Kyphosis, Vacuolated lympho...	OMIM:208400
Rett Syndrome	Kyphosis, Cachexia, Secondary microcephaly, Scoliosis	OMIM:312750
Cardiofacioneurodevelopmental Syndrome	Microcephaly, Asplenia, Kyphosis, Micrognathia, Camptodactyly	OMIM:619123
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis,...	OMIM:162300
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Midface retrusion, Progressive microce...	OMIM:613454
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Small for gestational age, Microcephaly, Preco...	OMIM:194190
Marden-Walker Syndrome	Failure to thrive, Camptodactyly of finger, Microcephaly, Joint stiffness, Kyphosis, Micrognathia...	ORPHA:2461
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis	OMIM:619909
1P36 Deletion Syndrome	Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Microcephaly, Joint stiffness, ...	ORPHA:1606
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Pigmentary retinopathy, Low-set ears, Hypercholest...	OMIM:606721
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Prominent nasal bridge, Ankle flexion contracture, ...	ORPHA:464311
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop...	ORPHA:99413
Turner Syndrome	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Hashimoto thyroiditis, Osteop...	ORPHA:99226
Classic Homocystinuria	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Curry-Jones Syndrome	Wormian bones, Bicoronal synostosis, Unicoronal synostosis	OMIM:601707
Hunter-Macdonald Syndrome	Premature osteoarthritis, Large fontanelles, Brachycephaly, Scoliosis, Camptodactyly, Cubitus val...	OMIM:611962
Holt-Oram Syndrome	Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness	ORPHA:392
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Prominent nasal bridge, Midface retrusion, Micrognathia	OMIM:609944
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula...	OMIM:300942
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Abnormal vertebral morphology, Decreased response to growth hormone stimulation te...	ORPHA:444077
Orofaciodigital Syndrome Iii	Supernumerary tooth, Kyphosis, Bulbous nose	OMIM:258850
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Small for gestational age, Decreased response to growth hormone stimulation test, ...	ORPHA:268261
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis, Midface retrusion, Hip subluxation	OMIM:619557
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Microcephaly, Hip dislocation, Abnormal curvature of t...	ORPHA:90348
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Narrow nasal tip, Anterior pituitary hypoplasia, Prominent nasal bri...	ORPHA:464306
Poland Syndrome	Diabetes mellitus, Microcephaly, Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Reduc...	ORPHA:2911
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Microcephaly, Obesity, Scoliosis, Hyposmia, Delayed cranial suture closure	OMIM:618653
Somatomammotropinoma	Mandibular prognathia, Frontal bossing, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadi...	ORPHA:314769
Cowden Syndrome	Follicular thyroid carcinoma, Abnormality of the thyroid gland, Kyphosis, Bone cyst, Scoliosis, M...	ORPHA:201
Acromegaly	Mandibular prognathia, Frontal bossing, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadi...	ORPHA:963
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Joint dislocation, Microretrognathia, Generalized joint laxity, Large fontanelles, ...	OMIM:601776
Yunis-Varon Syndrome	Narrow nasal base, Wide cranial sutures, Absent sternal ossification, Anteverted nares, Abnormal ...	ORPHA:3472
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Steinert Myotonic Dystrophy	Fatigable weakness of bulbar muscles, Hypercholesterolemia, Facial diplegia	ORPHA:273
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Abnormal curvature of the vertebral column, Decreased body weight, Joint laxity, Antev...	OMIM:619475
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Kyphosis, Scoliosis	OMIM:617143
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Broad nasal tip, Kyphosis, Elbow flexion contracture, Wide nasal bri...	OMIM:619194
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis	OMIM:266270
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Scoliosis	ORPHA:88644
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella, Scoliosis, D...	OMIM:182210
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Scoliosis	OMIM:211530
Oculo-Palato-Cerebral Syndrome	Thickened helices, Retinal detachment, Macrotia, Remnants of the hyaloid vascular system	ORPHA:2714
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, S...	ORPHA:904
Medulloblastoma	Back pain, Progressive macrocephaly, Delayed cranial suture closure	ORPHA:616
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Yunis-Varon Syndrome	Flat occiput, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia,...	OMIM:216340
Smith-Lemli-Opitz Syndrome	Anteverted nares, Abnormal dental enamel morphology, Choanal atresia, Microcephaly, Short neck, K...	ORPHA:818
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process...	OMIM:300106
Cockayne Syndrome	Diabetes mellitus, Convex nasal ridge, Delayed eruption of primary teeth, Cachexia, Carious teeth...	ORPHA:191
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Microcephaly, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologi...	ORPHA:90349
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, EEG with generalized slow activity	OMIM:618367
17Q11 Microdeletion Syndrome	Osteopenia, Depressed nasal bridge, Precocious puberty, Kyphosis, Osteoporosis, Osteolysis, Glomu...	ORPHA:97685
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Normochromic anem...	OMIM:615512
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Kbg Syndrome	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Short neck, Microcephaly, Underdevelo...	OMIM:148050
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Coffin-Siris Syndrome 1	Joint laxity, Frontal bossing, Sacral dimple, Delayed eruption of teeth, Depressed nasal bridge, ...	OMIM:135900
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Precocious puberty, Ky...	ORPHA:636
Cockayne Syndrome Type 3	Narrow nose, Carious teeth, Kyphosis, Splenomegaly, Flexion contracture, Scoliosis, Enamel hypopl...	ORPHA:90324
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Cerebrocostomandibular Syndrome	Tracheomalacia, Kyphosis, Micrognathia, Microcephaly	ORPHA:1393
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Sensorine...	ORPHA:637
Viss Syndrome	Micrognathia, Generalized joint laxity, Brachycephaly, Hypothyroidism, Joint laxity, Microretrogn...	OMIM:619472
Pierson Syndrome	Remnants of the hyaloid vascular system, Retinal detachment, Hypoproteinemia, Retinal hemorrhage	OMIM:609049
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos...	ORPHA:821
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Frontal bossing, Camptodactyly of finger, Abnormal dental enamel morphology, Microcephaly, Choana...	ORPHA:2273
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system	OMIM:221900
Branchiooculofacial Syndrome	Depressed nasal bridge, Microcephaly, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Elbow fl...	OMIM:113620
Lymphedema-Distichiasis Syndrome	Kyphosis, Micrognathia	OMIM:153400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Pallister-Killian Syndrome	Congenital hip dislocation, Short neck, Micrognathia, Flexion contracture, Camptodactyly of 2nd-5...	OMIM:601803
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ...	OMIM:300166
Norrie Disease	Retinal detachment, Remnants of the hyaloid vascular system, Sensorineural hearing impairment, Op...	ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe	OMIM:619522
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis	ORPHA:171629
Neuroocular Syndrome	Remnants of the hyaloid vascular system, Unilateral deafness, Cupped ear, Anterior creases of ear...	OMIM:619539
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation...	ORPHA:64
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Holoprosencephaly 2	Remnants of the hyaloid vascular system	OMIM:157170

Histopathology

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

There is no histopathology data for Ankrd11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ankrd11.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ankrd11^{tm1.2(IMPC)Wtsi}	PMC7263671
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Ankrd11^{tm1b(EUCOMM)Wtsi}	PMC5638796

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MGI Allele	Allele Type	Produced
Ankrd11^{tm1(IMPC)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Ankrd11^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ankrd11^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ankrd11^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ankrd11 MGI:1924337

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

X-ray

Embryo LacZ

Immunophenotyping

Immunophenotyping

Human diseases caused by Ankrd11 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data