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Gene: Cdo1 MGI:105925

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cysteine dioxygenase 1, cytosolic
Synonyms:
1300002L19Rik,  D18Ucla3,  Cdo

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cdo1 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.

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

The table below shows human diseases predicted to be associated to Cdo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rubinstein-Taybi Syndrome 2
Epicanthus, Thick eyebrow, Broad thumb, Highly arched eyebrow, Narrow palate, Carious teeth, Shor... OMIM:613684
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Scoliosis, Abnormal palate morphology, Protruding ear, Synophr... ORPHA:2471
Blepharophimosis-Impaired Intellectual Development Syndrome
Short distal phalanx of finger, Epicanthus, Scoliosis, Hip dysplasia, Widely spaced teeth, Thick ... OMIM:619293
Camptodactyly Syndrome, Guadalajara Type 1
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Epicanth... ORPHA:1327
Acrootoocular Syndrome
Grayish enamel, Epicanthus, Short toe, Supernumerary tooth, Blepharophimosis, Kyphoscoliosis, Pal... ORPHA:2980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Kyphoscoliosis, Joint contracture of t... OMIM:612350
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Epicanthus, Unsteady gait, Downslanted palpebral fissures, Mandibular prognathia, Ta... OMIM:618292
Alpha-Mannosidosis
Scoliosis, Hip dysplasia, Widely spaced teeth, Hearing impairment, Narrow palate, Recurrent respi... ORPHA:61
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Synophrys, Short stature, Dental malocclusion, Anteverted ears, Mac... OMIM:615541
Schaaf-Yang Syndrome
Scoliosis, Inability to walk, Narrow palm, Thick eyebrow, Rocker bottom foot, Short palpebral fis... OMIM:615547
X-Linked Intellectual Disability, Stocco Dos Santos Type
Recurrent respiratory infections, Small for gestational age, Epicanthus, Hyperactivity, Short sta... ORPHA:85288
Auriculocondylar Syndrome 2
Low-set ears, Overfolding of the superior helices, Temporomandibular joint ankylosis, Posteriorly... OMIM:614669
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Protruding ear, Coxa magna, Short metatarsal, Osteoarthritis, Narrow palate, Carious t... OMIM:190350
6Q16 Microdeletion Syndrome
Polyphagia, Low-set ears, Retrognathia, Obesity, Thick eyebrow, Upslanted palpebral fissure, Tape... ORPHA:171829
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Broad nasal tip, Epicanthus, Scoliosis, Elevated circulating parathyroid ... OMIM:101800
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Diastema, Attached earlobe, Short neck, Malar flattening, Downslanted palpebral fis... ORPHA:436245
Hemifacial Atrophy, Progressive
Ataxia, Short mandibular rami, Kyphosis, Tongue atrophy, Dental malocclusion, Delayed eruption of... OMIM:141300
Seckel Syndrome 1
Scoliosis, Hip dislocation, Selective tooth agenesis, Cleft palate, Single transverse palmar crea... OMIM:210600
Kabuki Syndrome 2
Broad nasal tip, Epicanthus, Hip dislocation, Neonatal hypoglycemia, Protruding ear, Hearing impa... OMIM:300867
Muenke Syndrome
Clinodactyly, High palate, Coronal craniosynostosis, Malar flattening, Thimble-shaped middle phal... OMIM:602849
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Generalized joint laxity, Agenesis of permanent teeth, Cleft palate, Broad thumb, Narrow mouth, I... ORPHA:251028
Man1B1-Cdg
Epicanthus, Truncal obesity, Sparse eyebrow, Smooth philtrum, Broad-based gait, Polyphagia, Long ... ORPHA:397941
Potocki-Lupski Syndrome
Small for gestational age, High palate, Scoliosis, Hyperactivity, Downslanted palpebral fissures,... OMIM:610883
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Short nose, Short columella, Dental malocclusion, Vertebral cleft... OMIM:155050
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Fifth finger distal phalanx clinodactyly, Broad long bones, Short palpebral fissure, ... OMIM:257850
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Scoliosis, Thick eyebrow, Upslanted palpebral fissure, Short palpebral fissure, Highl... OMIM:615834
Craniosynostosis 3
Bicoronal synostosis, Hallux valgus, Left unicoronal synostosis, Right unicoronal synostosis, Den... OMIM:615314
Pycnodysostosis
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo... ORPHA:763
Trichothiodystrophy 9, Nonphotosensitive
Epicanthus, Ataxia, High, narrow palate, Dental malocclusion, Sparse eyebrow, Joint laxity, Brach... OMIM:619692
Multiple Pterygium Syndrome, Escobar Variant
Epicanthus, Hip dislocation, Scoliosis, Rocker bottom foot, Intercrural pterygium, Cleft palate, ... OMIM:265000
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Malar flattening, Underdeveloped nasal alae, Widely spaced teeth, Short stature... OMIM:616108
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Upslanted palpebral fissur... OMIM:616331
Hypotonia-Cystinuria Syndrome
Polyphagia, Depressed nasal bridge, Long eyelashes, Neonatal hypoglycemia, Posteriorly rotated ea... OMIM:606407
Ck Syndrome
High palate, Epicanthus, Slender build, Retrognathia, Prominent nasal bridge, Hyperactivity, Mala... OMIM:300831
Fanconi Anemia, Complementation Group S
Epicanthus, Long eyelashes, Prominent nasal bridge, Ataxia, Proximal placement of thumb, Underdev... OMIM:617883
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spondylolisthesis, Short toe, Short 5th metacarpal, Conductive hearing impairment, Short nose, Os... OMIM:617877
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Maternal diabetes, Small for gestational age, Neonatal hypoglycemia, Excessive insuli... ORPHA:324575
Robinow Syndrome, Autosomal Dominant 3
Epicanthus, Scoliosis, Agenesis of permanent teeth, Upslanted palpebral fissure, Hearing impairme... OMIM:616894
Zimmermann-Laband Syndrome
Bifid uvula, Thick eyebrow, Cleft palate, Supernumerary tooth, Overtubulated long bones, Long eye... ORPHA:3473
Hall-Riggs Mental Retardation Syndrome
Microdontia of primary teeth, Epicanthus, Scoliosis, Irregular vertebral endplates, Osteoporosis,... OMIM:234250
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Scoliosis, Hip dysplasia, Mandibula... ORPHA:1858
Intellectual Disability, Buenos-Aires Type
High palate, Reduced bone mineral density, Downslanted palpebral fissures, Mandibular prognathia,... ORPHA:3079
Three M Syndrome 2
Protruding ear, Short 5th finger, Prominent nasal tip, Small for gestational age, Severe short st... OMIM:612921
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Small pituitary gland, Hypo... ORPHA:398079
Cri-Du-Chat Syndrome
Epicanthus, Scoliosis, Bifid uvula, Short metatarsal, Hearing impairment, Single transverse palma... OMIM:123450
Zimmermann-Laband Syndrome 3
Clinodactyly, Short distal phalanx of finger, Long eyelashes, Broad nasal tip, High palate, Bifid... OMIM:618658
Short Syndrome
Insulin-resistant diabetes mellitus, Enlarged epiphyses, Small for gestational age, Intrauterine ... OMIM:269880
Mulibrey Nanism
Single transverse palmar crease, Hypoplastic frontal sinuses, Intrauterine growth retardation, Sh... OMIM:253250
Myopathy, Myofibrillar, 8
High palate, Scoliosis, Distal joint laxity, Joint contracture of the 5th finger, Recurrent lower... OMIM:617258
Van Maldergem Syndrome 2
Epicanthus, Scoliosis, Hearing impairment, Short palpebral fissure, Cutaneous finger syndactyly, ... OMIM:615546
Hamamy Syndrome
Hip dysplasia, Hypoparathyroidism, Long fingers, Sparse eyebrow, Smooth philtrum, Blepharophimosi... OMIM:611174
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Joint stiffness, Protruding ear, Abnormal hip bone morphology, Short stature, Cle... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Dominant 23
Scoliosis, Upslanted palpebral fissure, Smooth philtrum, Sacral dimple, Downturned corners of mou... OMIM:615761
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Scoliosis, Selective tooth agenesis, Hearing impairment, Cleft palate, C... OMIM:305620
Trisomy 18P
Polyphagia, Abnormal pinna morphology, Abnormal finger morphology, Underdeveloped nasal alae, Int... ORPHA:1715
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, Epicanthus, Eyelid coloboma, Smooth philtrum, Large h... ORPHA:2563
Prader-Willi Syndrome
Delayed puberty, Scoliosis, Hip dysplasia, Primary amenorrhea, Narrow palm, Upslanted palpebral f... OMIM:176270
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Scoliosis, Narrow palm, Upslanted palpebral fissure, Short palpebral fissure, Highly ... ORPHA:352490
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphy... OMIM:608940
Hajdu-Cheney Syndrome
Epicanthus, Pathologic fracture, Thick eyebrow, Narrow mouth, Large earlobe, Kyphoscoliosis, Prem... OMIM:102500
Hypotonia-Cystinuria Syndrome
Polyphagia, Epicanthus, Retrognathia, Failure to thrive, Growth delay, Cystinuria, Ptosis ORPHA:163690
Van Maldergem Syndrome 1
Epicanthus, Scoliosis, Short palpebral fissure, Cutaneous finger syndactyly, Blepharophimosis, Ca... OMIM:601390
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate ... ORPHA:1354
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Dysphagia, Dental malocclusion, Arthrogryposis multiplex cong... OMIM:608931
Takenouchi-Kosaki Syndrome
Scoliosis, Proximal placement of thumb, Widely spaced teeth, Upslanted palpebral fissure, Highly ... OMIM:616737
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Epicanthus, Hip dislocation, Hyperactivity, Scoliosis, Short stature, Kyphosis, Small hand, Talip... OMIM:300434
Prader-Willi-Like Syndrome
Delayed puberty, Epicanthus, Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism... ORPHA:398073
Lessel-Kreienkamp Syndrome
Open mouth, Epicanthus, Hypoplastic helices, Attention deficit hyperactivity disorder, Upslanted ... OMIM:619149
Intellectual Developmental Disorder, Autosomal Dominant 1
Scoliosis, Hip dysplasia, Protruding ear, Widely spaced teeth, Thick eyebrow, Highly arched eyebr... OMIM:156200
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Epicanthus, Abnormal diaphysis morphology, Upslanted palpebral fissure, ... ORPHA:3409
Au-Kline Syndrome
Oligodontia, Hip dysplasia, Bifid uvula, Shallow orbits, Cleft palate, Bifid tongue, Sagittal cra... OMIM:616580
Temple Syndrome
Polyphagia, Small for gestational age, Scoliosis, Precocious puberty, Bifid uvula, Recurrent hypo... ORPHA:254516
Schwartz-Jampel Syndrome
Scoliosis, Hip dysplasia, Abnormal eyebrow morphology, Cachexia, Cleft palate, Spinal rigidity, S... ORPHA:800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Single transverse palmar crease, Low-set ears, High palate, Retrognathia, Hip dysplasia, Scoliosi... OMIM:611890
Auriculocondylar Syndrome 1
Low-set ears, Overfolding of the superior helices, Posteriorly rotated ears, Ankylosis, Micrognat... OMIM:602483
Hallermann-Streiff Syndrome
Scoliosis, Selective tooth agenesis, Abnormality of the hand, Narrow mouth, Narrow palate, Sparse... OMIM:234100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... ORPHA:276580
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Low-set ears, Malar flattening, Downslanted palpebral fissures, Wide nasal ridge, Short stature, ... ORPHA:3433
Rubinstein-Taybi Syndrome 1
Epicanthus, Scoliosis, Short thumb, Polydactyly, Truncal obesity, Thick eyebrow, Hearing impairme... OMIM:180849
Sponastrime Dysplasia
Epicanthus, Hip dislocation, Scoliosis, Generalized joint laxity, Rhizomelia, Metaphyseal irregul... ORPHA:93357
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Small pituitary gland, Hypo... ORPHA:398069
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Scoliosis, Anodontia, Downslanted palpebral fissures, Short stature, Kyphosis, Taper... ORPHA:276630
Cebalid Syndrome
Polyphagia, Low-set ears, High palate, Abnormal pinna morphology, Posteriorly rotated ears, Downs... OMIM:618774
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Broad nasal tip, Scoliosis, Congenital hip dislocation, Lumbar hyperlord... OMIM:619719
Cardiofaciocutaneous Syndrome 1
Epicanthus, Scoliosis, Hearing impairment, Absent eyelashes, Large earlobe, Anterior creases of e... OMIM:115150
Desbuquois Dysplasia 1
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... OMIM:251450
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Short distal phalanx of finger, Selective tooth agenesis, Bifid uvula, Thoracic ... ORPHA:2959
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Oligodontia, Epicanthus, Scoliosis, Diabetes mellitus, Slender toe, Narrow mouth... ORPHA:391408
Momo Syndrome
High palate, Epicanthus, Short neck, Eyelid coloboma, Downslanted palpebral fissures, Underfolded... OMIM:157980
Congenital Myopathy 17
Narrow jaw, Cleft palate, Smooth philtrum, Hand clenching, Distal arthrogryposis, Overlapping toe... OMIM:618975
Phelan-Mcdermid Syndrome
Epicanthus, Protruding ear, Widely spaced teeth, Thick eyebrow, Hearing impairment, Large hands, ... OMIM:606232
Prader-Willi Syndrome
Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes mellitus, Central ... ORPHA:739
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Epicanthus, Scoliosis, Cachexia, Toe syndactyly, Blepharophimosis, Thick... ORPHA:85293
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Narrow palpebral fissure, Scoliosis, Widely spaced toes, Scheuermann-like verteb... OMIM:301900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Episodi... ORPHA:276575
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Long eyelashes, Scoliosis, Ataxia, Osteoporosis, Malar prominence, Intra... ORPHA:48431
Larsen-Like Syndrome
Low-set ears, Conductive hearing impairment, Radial deviation of the 4th finger, Malar flattening... OMIM:608545
Noonan Syndrome 4
Low-set ears, Epicanthus, Scoliosis, Bilateral ptosis, Short neck, Posteriorly rotated ears, Down... OMIM:610733
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes m... ORPHA:98754
Phaver Syndrome
Camptodactyly of finger, Epicanthus, Short thumb, Hypoplastic aortic arch, Broad thumb, Overfolde... ORPHA:2876
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Shallow orbits, Narrow palate, Joint contracture of the hand, Camptodactyly, Conductiv... OMIM:182212
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Epicanthus, Abnormality of the dentition, Malar flattening, Short stature, Microgna... ORPHA:85321
Whistling Face Syndrome, Recessive Form
Epicanthus, Short palpebral fissure, Shoulder flexion contracture, Narrow mouth, Microglossia, Bl... OMIM:277720
Leptin Deficiency Or Dysfunction
Polyphagia, Hypogonadism, Primary amenorrhea, Recurrent pneumonia, Decreased serum leptin, Recurr... OMIM:614962
2Q23.1 Microdeletion Syndrome
Polyphagia, Open mouth, Hip dysplasia, Hyperactivity, Ataxia, Synophrys, Malar flattening, Short ... ORPHA:228402
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, React... ORPHA:276556
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Prelingual sensorineural hearing impairment, Single transverse palmar crease, Sm... ORPHA:73272
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Epicanthus, Conductive hearing impairment, Prominent nasal bri... ORPHA:1131
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Scoliosis, Proximal placement of thumb, Widely spaced teeth, Upslanted palpebral fissure, Hearing... ORPHA:487796
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes m... ORPHA:177901
Frank-Ter Haar Syndrome
Broad nasal tip, Hip dysplasia, Protruding ear, Cortical irregularity, Simple ear, Broad alveolar... OMIM:249420
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes m... ORPHA:98793
Diastrophic Dysplasia
Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Hearing impairmen... ORPHA:628
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Dental malocclusion, Clavicular sclerosi... OMIM:144750
Intermediate Osteopetrosis
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of the dentition... ORPHA:210110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Scoliosis, Hip dysplasia, Primary amenorrhea, Central hypothyroidism, Diabetes m... ORPHA:177904
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Epicanthus, Oligodontia, Scoliosis, Polydactyly, Eyelid coloboma, Truncal obesit... OMIM:615873
Apert Syndrome
Bifid uvula, Choanal atresia, Hearing impairment, Shallow orbits, Broad thumb, Cleft palate, Narr... OMIM:101200
Auriculocondylar Syndrome
Bifid uvula, Difficulty in tongue movements, Abnormality of the temporomandibular joint, Hearing ... ORPHA:137888
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Joint stiffness, Ovoid vertebral bodies, Abnormal form of the vertebral bodies, Bowing... ORPHA:40
Spastic Paraplegia 18, Autosomal Recessive
High palate, Scoliosis, Inability to walk, Gait disturbance, Kyphosis, Joint contracture OMIM:611225
Metatropic Dysplasia
Camptodactyly of finger, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:2635
15Q24 Microdeletion Syndrome
Epicanthus, Scoliosis, Proximal placement of thumb, Hearing impairment, Narrow mouth, Smooth phil... ORPHA:94065
7Q11.23 Microduplication Syndrome
Broad nasal tip, Abnormal columella morphology, Hearing impairment, Long fingers, Thin vermilion ... ORPHA:96121
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Po... OMIM:618392
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Turnpenny-Fry Syndrome
Widely spaced teeth, Thoracic kyphoscoliosis, Long fingers, Narrow mouth, Short sternum, Prominen... OMIM:618371
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Premature ovarian insufficiency, Camptodactyly, Epicanthus, Retrognathia, Abnormality ... ORPHA:363444
Osteopathia Striata With Cranial Sclerosis
Epicanthus, Scoliosis, Bifid uvula, Cleft palate, Fibular aplasia, Overfolded helix, Cleft upper ... OMIM:300373
Harrod Syndrome
Long nose, High palate, Scoliosis, Protruding ear, Intrauterine growth retardation, Kyphosis, Fai... ORPHA:2115
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Thick eyebrow, Hyperplasia of the maxilla, Dislocation of toes, Kyphoscoliosis, Joint ... OMIM:300280
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Pathologic fracture, Sparse ey... OMIM:614008
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Gait disturbance, Synophrys, Truncal obesity, Short nose, Mandibular prognathia, Thick... ORPHA:2429
Frank-Ter Haar Syndrome
Camptodactyly of finger, Premature loss of teeth, Scoliosis, Osteolysis, Protruding ear, Joint st... ORPHA:137834
Mehmo Syndrome
Delayed puberty, Small for gestational age, Broad nasal tip, Depressed nasal tip, Open mouth, Ina... OMIM:300148
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Broad nasal tip, Epicanthus, Protruding ear, Truncal obesity, Upslanted palpebral fissure, Short ... ORPHA:3041
Osteogenesis Imperfecta
Scoliosis, Abnormal long bone morphology, Abnormal cortical bone morphology, Rhizomelia, Loss of ... ORPHA:666
Coffin-Lowry Syndrome
Scoliosis, Protruding ear, Widely spaced teeth, Thick eyebrow, Hearing impairment, Highly arched ... OMIM:303600
Beaulieu-Boycott-Innes Syndrome
Long nose, Premature ovarian insufficiency, Endometriosis, Upslanted palpebral fissure, Short pal... OMIM:613680
Primary Condylar Hyperplasia
Macrodontia, Abnormality of the temporomandibular joint, Abnormal mandible condylar process morph... ORPHA:477781
Weaver Syndrome
Epicanthus, Scoliosis, Calcaneovalgus deformity, Broad thumb, Single transverse palmar crease, La... OMIM:277590
Fetal Akinesia Deformation Sequence 4
Low-set ears, Camptodactyly, Retrognathia, High palate, Short neck, Posteriorly rotated ears, Kyp... OMIM:618393
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Scoliosis, Abnormal palate morphology, Severe short stature, R... ORPHA:2617
Oliver Syndrome
Postaxial foot polydactyly, Camptodactyly of finger, High palate, Scoliosis, Mandibular prognathi... ORPHA:2920
Cleft Palate, Isolated
Cleft palate, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Increased overbite OMIM:119540
Faciodigitogenital Syndrome, Autosomal Recessive
Hearing impairment, Narrow palate, Down-sloping shoulders, Camptodactyly, Hyperextensible hand jo... OMIM:227330
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Oligodontia, Epicanthus, Scoliosis, Thick eyebrow, Upslanted palpebral fissure, Single transverse... OMIM:617061
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... OMIM:271530
Clark-Baraitser syndrome
Broad nasal tip, Scoliosis, Widely-spaced maxillary central incisors, Downslanted palpebral fissu... OMIM:300602
Huntington Disease
Abnormal libido, Polyphagia, Decreased body mass index, Inability to walk, Gait disturbance, Agit... ORPHA:399
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... ORPHA:71526
Ruvalcaba Syndrome
Limited elbow extension, Delayed puberty, Scoliosis, Short metatarsal, Short phalanx of finger, S... OMIM:180870
Cerebellar-Facial-Dental Syndrome
Scoliosis, Infancy onset short-trunk short stature, Foot joint contracture, S-shaped palpebral fi... ORPHA:444072
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... ORPHA:93314
Microphthalmia, Syndromic 2
Broad nasal tip, Oligodontia, Scoliosis, Laterally curved eyebrow, Bifid uvula, Hypoplastic aorti... OMIM:300166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Broad nasal tip, Scoliosis, Tooth agenesis, Hip dysplasia, Protruding ear, Bifid uvula, Inability... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Broad nasal tip, Scoliosis, Tooth agenesis, Hip dysplasia, Protruding ear, Bifid uvula, Inability... ORPHA:352665
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Upslanted palpebral fissure, Toe syndactyly, Conductive hearing im... ORPHA:3082
Barber-Say Syndrome
Widely spaced teeth, Hearing impairment, Sparse eyebrow, Thin vermilion border, Epiblepharon, Bra... OMIM:209885
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Oligodontia, Malar flattening, Persistence of primary teeth, Enamel hypoplasia, Mi... OMIM:618727
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, High palate, Scoliosis, Short nose, Deep philtrum, Osteopenia, ... ORPHA:329178
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Long fingers, Highly arched eyebrow, Smooth philtrum, Large earlobe, Recurrent respira... OMIM:618316
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Down-sloping shoulders, Low-set ears, Mixed hearing impairment, Periorbital dermoid cyst, Tapered... OMIM:615560
Leptin Receptor Deficiency
Polyphagia, Delayed puberty, Abnormal eating behavior, Diabetes mellitus, Short stature, Decrease... OMIM:614963
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Narrow palm, Short stature, Hypogonadotropic hypogonadism, Small hand, Abnormal ulnar... ORPHA:177910
2P15P16.1 Microdeletion Syndrome
Camptodactyly of finger, Epicanthus, Scoliosis, Protruding ear, Hearing impairment, Narrow mouth,... ORPHA:261349
Robinow Syndrome
Short distal phalanx of finger, Broad nasal tip, Tooth malposition, Scoliosis, Fused thoracic ver... ORPHA:97360
Mccune-Albright Syndrome
Abnormal endocrine physiology, Scoliosis, Increased circulating cortisol level, Osteomalacia, Hea... ORPHA:562
Sclerosteosis 1
Deviation of finger, 2-3 finger syndactyly, Tooth malposition, Malar flattening, Facial palsy sec... OMIM:269500
Hadziselimovic Syndrome
Low-set ears, Pulmonary artery atresia, Epicanthus, Prominent nasal bridge, High palate, Posterio... OMIM:612946
Bardet-Biedl Syndrome 9
Polyphagia, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obes... OMIM:615986
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Parastremmatic Dwarfism
Scoliosis, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu valgum, Bowing o... OMIM:168400
Cdkl5-Deficiency Disorder
Scoliosis, Hallux valgus, Gait disturbance, Difficulty walking, Synophrys, Deep philtrum, Broad p... ORPHA:505652
3M Syndrome
Scoliosis, Protruding ear, Thick eyebrow, Rocker bottom foot, Hypoplastic pelvis, Short neck, Int... ORPHA:2616
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Inability to walk, Protruding ear, Thick eyebrow, Upslanted palpebral fissure, Narrow ... OMIM:618443
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Hip dislocation, Upslanted palpebral fissure, Brachydactyly, Low-set, posteriorly rota... ORPHA:1005
Waardenburg Syndrome Type 2
Hearing impairment, Sensorineural hearing impairment, Abnormality of the pulmonary artery, Teleca... ORPHA:895
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Severe short stature, Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, ... OMIM:313420
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Gait disturbance, Hypogonadism, Kyphosis, Cubitus valgus, Joint hyperflexibility, Ptosis ORPHA:1875
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Short metatarsal, Short 5th metacarpal, Brachydac... ORPHA:79443
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short first metatarsal, Prominent interdigital folds, Mandibular ... OMIM:601957
Stuve-Wiedemann Syndrome 1
Scoliosis, Clubbing, Pathologic fracture, Contracture of the proximal interphalangeal joint of th... OMIM:601559
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Schwartz-Jampel Syndrome, Type 1
Scoliosis, Anterior bowing of long bones, Shoulder flexion contracture, Narrow mouth, Blepharophi... OMIM:255800
Bardet-Biedl Syndrome 22
Polyphagia, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Large for gestational age, Obe... OMIM:617119
Insulinoma
Polyphagia, Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hypoglycemia, A... ORPHA:97279
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Delayed puberty, Depressed nasal bridge, Hyperactivity, Hypogonadism, Abnormal pinn... OMIM:300354
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrh... ORPHA:66628
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Short metatarsal, Short 5th metacarpal, Brachydac... ORPHA:79444
4Q21 Microdeletion Syndrome
Low-set ears, Long eyelashes, Abnormality of the dentition, Scoliosis, Short neck, Synophrys, Int... ORPHA:238750
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Low-set ears, High palate, Scoliosis, Prominent nasal bridge, Arthrogryposis multiplex congenita,... ORPHA:178148
Cerebellofaciodental Syndrome
Low-set ears, Scoliosis, Short neck, Taurodontia, Short stature, Shortening of all distal phalang... OMIM:616202
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Hip dislocation, Inability to walk, Rocker bottom foot, Cleft palate, Achilles tendon ... OMIM:301041
Carpenter Syndrome 2
Epicanthus, Protruding ear, Upslanted palpebral fissure, Broad thumb, Highly arched eyebrow, Spar... OMIM:614976
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Endocardial Fibroelastosis
Telecanthus, Low-set, posteriorly rotated ears, Abnormal palate morphology, Abnormal helix morpho... ORPHA:2022
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrh... ORPHA:179494
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Hip dislocation, Lumbar hyperlordosis, Inability to walk, Ataxia, Short stature, Kypho... OMIM:616756
Faciocardiomelic Syndrome
Telecanthus, Thin bony cortex, Polydactyly, Short eyelashes, Slender long bone, Hyperplasia of th... OMIM:612731
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Calcaneovalgus deformity, Hearing impairment, Short palpebral fissure, Blepharophimos... OMIM:612513
Zimmermann-Laband Syndrome 2
Macroglossia, Long eyelashes, Short neck, Synophrys, Bifid nasal tip, Prominent nasal septum, Und... OMIM:616455
Atypical Werner Syndrome
Delayed puberty, Hip dysplasia, Diabetes mellitus, Fasting hyperinsulinemia, Rocker bottom foot, ... ORPHA:79474
Arthrogryposis, Distal, Type 2A
Epicanthus, Hip dislocation, Scoliosis, Flexion contracture of finger, Rocker bottom foot, Hearin... OMIM:193700
Luscan-Lumish Syndrome
Polyphagia, Long nose, Malar flattening, Downslanted palpebral fissures, Advanced ossification of... OMIM:616831
Elsahy-Waters Syndrome
Bifid uvula, Thick eyebrow, Shortening of all phalanges of fingers, Supernumerary tooth, Cutaneou... OMIM:211380
Pseudoachondroplasia
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... OMIM:177170
19P13.12 Microdeletion Syndrome
Epicanthus, Scoliosis, Cleft palate, Thin vermilion border, Hypothyroidism, Conductive hearing im... ORPHA:254346
Mucopolysaccharidosis, Type Iva
Grayish enamel, Scoliosis, Large elbow, Cervical subluxation, Widely spaced teeth, Hearing impair... OMIM:253000
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Gait disturbance, Protruding ear, Ataxia, Synophrys, Mandibular prognathia, Kyphosis, ... ORPHA:85317
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Bifid uvula, Upslanted palpebral fissure, Cleft palate, Highly arched eyebrow, Smooth ... ORPHA:404440
Martin-Probst Syndrome
Narrow palpebral fissure, Low-set ears, Epicanthus, Malar flattening, Short stature, Micrognathia... OMIM:300519
Cohen Syndrome
Delayed puberty, Scoliosis, Tooth agenesis, Narrow palm, Thick eyebrow, Slender toe, Long eyelash... ORPHA:193
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Scoliosis, Diabetes mellitus, Elevated circulating parathyroid hormone level, Short metatarsal, S... ORPHA:280651
Mosaic Trisomy 1
Camptodactyly of finger, Short upper lip, Rocker bottom foot, Cleft palate, Toe syndactyly, Thora... ORPHA:1692
Coffin-Lowry Syndrome
Short distal phalanx of finger, Epicanthus, Scoliosis, Protruding ear, Abnormal diaphysis morphol... ORPHA:192
Wieacker-Wolff Syndrome
Scoliosis, Hip dislocation, Proximal placement of thumb, Upslanted palpebral fissure, Smooth phil... OMIM:314580
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Prominent nasal bridge, Short thumb, Synophrys, Downslanted palpebral f... ORPHA:401935
Koolen-De Vries Syndrome
Epicanthus, Hip dislocation, Scoliosis, Protruding ear, Upslanted palpebral fissure, Cleft palate... ORPHA:96169
Cleft Lip/Palate
Abnormality of dental eruption, Conductive hearing impairment, Unilateral cleft palate, Abnormal ... ORPHA:199306
Combined Oxidative Phosphorylation Deficiency 47
Low-set ears, Short neck, Cone-shaped epiphyses of the distal phalanges of the hand, Posteriorly ... OMIM:618958
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Epicanthus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial m... ORPHA:457395
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Proximal placement of thumb, Downslanted palpebral fissures... ORPHA:3121
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Short thumb, Overlapping toe, Short stature, Kyphosis, Clinodactyly of the 5th finger OMIM:618453
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Wide nasal base, Bilateral talipes equinovarus, Wide nasal bridge, Wide mouth, Obesity OMIM:616521
Noonan Syndrome 1
Epicanthus, Hearing impairment, Cleft palate, Male infertility, Synovitis, Kyphoscoliosis, Brachy... OMIM:163950
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Hip dislocation, Keratoconjunctivitis sicca, Central adrenal insufficiency, Thick eyeb... OMIM:616007
Adnp Syndrome
Polydactyly, Protruding ear, Truncal obesity, Broad thumb, Smooth philtrum, Single transverse pal... ORPHA:404448
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Long eyelashes, Hypogonadism, Failure to thrive, Growth delay,... ORPHA:163693
Shashi-Pena Syndrome
Low-set ears, Epicanthus, Long eyelashes, Broad nasal tip, Retrognathia, Scoliosis, Synophrys, Po... OMIM:617190
Oculofaciocardiodental Syndrome
Oligodontia, Scoliosis, Tooth malposition, Short thumb, Solitary median maxillary central incisor... ORPHA:2712
Cockayne Syndrome A
Square pelvis bone, Abnormal auditory evoked potentials, Slender nose, Carious teeth, Hypoplastic... OMIM:216400
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Intrauterine growth retardation, Short stature, Sensorineural hea... ORPHA:290
Thanatophoric Dysplasia
Low-set ears, Abnormal metaphysis morphology, Hip dysplasia, Joint stiffness, Pulmonary hypoplasi... ORPHA:2655
19P13.3 Microduplication Syndrome
Epicanthus, Hip dislocation, Hip dysplasia, Upslanted palpebral fissure, Cleft palate, Long finge... ORPHA:447980
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Scoliosis, Short neck, Synostosis of carpal bones,... ORPHA:3191
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Scoliosis, Upslanted palpebral fissure, Thin vermilion border, Carious t... OMIM:617602
Winchester Syndrome
Generalized osteoporosis, Broad metacarpals, Kyphosis, Carpal osteolysis, Gingival overgrowth, Os... OMIM:277950
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Depressed nasal brid... ORPHA:3098
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Congenital bilateral ptosis, Conductive hearing impairment, Malar flattening, Down... OMIM:608257
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hip dysplasia, Polydactyly, Prominent nasal septum, Broad thumb, Highly arched eyebrow, Supernume... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hip dysplasia, Polydactyly, Prominent nasal septum, Broad thumb, Highly arched eyebrow, Supernume... ORPHA:353277
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Fraser Syndrome 1
Difficulty in tongue movements, Aplasia/Hypoplasia of the phalanges of the hand, Absent eyelashes... OMIM:219000
Trisomy 20P
Camptodactyly of finger, Epicanthus, Scoliosis, Protruding ear, Thick eyebrow, Upslanted palpebra... ORPHA:261318
Mitochondrial Myopathy And Sideroblastic Anemia
Delayed puberty, High palate, Scoliosis, Short nose, Distichiasis, Kyphosis, Long philtrum, Micro... ORPHA:2598
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Mandibular prognathia, Wide mouth, Broad-based gait, Obesity ORPHA:411515
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Marden-Walker Syndrome
Epicanthus, Scoliosis, Cleft palate, Narrow mouth, Blepharophimosis, Joint contracture of the han... OMIM:248700
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Epicanthus, Scoliosis, Ankyloglossia, Up... ORPHA:1507
Difference Of Sex Development-Intellectual Disability Syndrome
Severe sensorineural hearing impairment, Low-set, posteriorly rotated ears, Reduced bone mineral ... ORPHA:2983
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Hip dysplasia, Ataxia, Attention deficit hyperactivity disorder, Short stature, Kyphosis, Failure... OMIM:620007
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Short finger, High palate, Retrognathia, Prominent nasal bridge, Bifid uvula, Malar flattening, D... OMIM:601552
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Congenital bilateral ptosis, Kyphosis, Highly arched ... OMIM:609384
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Long eyelashes, Short stature, Upslanted palpebral fissure, Narrow nos... ORPHA:231137
Dystonia 31
Dysphagia, Abnormal posturing, Difficulty walking OMIM:619565
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Epicanthus, Scoliosis, Short palpebral fissure, Cleft palate, Toe syndac... ORPHA:251014
Laron Syndrome
Delayed puberty, Hypohidrosis, Tooth agenesis, Severe short stature, Aplasia/Hypoplasia involving... ORPHA:633
Spondyloenchondrodysplasia
Short distal phalanx of finger, Hypoplastic ilia, Disproportionate short-trunk short stature, Juv... ORPHA:1855
Williams Syndrome
Epicanthus, Scoliosis, Protruding ear, Abnormal form of the vertebral bodies, Gait imbalance, Car... ORPHA:904
Megalocornea-Intellectual Disability Syndrome
Open mouth, Epicanthus, High palate, Scoliosis, Protruding ear, Genu varum, Ataxia, Downslanted p... ORPHA:2479
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Shoulder flexion contracture, Foot joint contracture, Congenital finger flexion contra... ORPHA:536516
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Smooth philtrum, Short sternum, Pulmonary artery atresia, Ulnar devi... OMIM:620113
Spondyloperipheral Dysplasia
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... OMIM:271700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Short stature, Hyperinsulinemia, Hyperglycemia, Obesity ORPHA:329249
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Scoliosis, Hip dysplasia, Cervical subluxation, Widely spaced teeth, Hearing impa... OMIM:253010
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Abnormal sacrum morphology, Hearing impairment, Cleft palate, ... ORPHA:1926
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Epicanthus, Scoliosis, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal antiheli... ORPHA:2916
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Broad nasal tip, Scoliosis, Hip dysplasia, Protruding ear, Hearing impairment, Gait imbalance, Na... OMIM:300966
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Hearing impairment, Upper limb amyotrophy, Talipes equin... OMIM:617087
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Epicanthus, Scoliosis, Protruding ear, Abnormal antihelix morphology, Downslanted p... ORPHA:261144
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Inability to walk, Gait disturbance, Attention deficit hyperactivity disord... ORPHA:216866
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Short stature, Hyperinsulinemia, Glucose in... ORPHA:369873
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Congenital hip dislocation, Widely spaced teeth, Dislocation of the femoral head, Kyph... OMIM:619797
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Acro-Renal-Mandibular Syndrome
Scoliosis, Hip dislocation, Hypoplasia of the radius, Rudimentary to absent tibiae, Low-set, post... ORPHA:958
Arthrogryposis, Distal, Type 5
Absent phalangeal crease, Epicanthus, High palate, Scoliosis, Bilateral talipes equinovarus, Limi... OMIM:108145
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Abnormality of the dentition, ... ORPHA:1548
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia, Hip dislocation, Anterior rib punctate calcifications, Sparse eyebrow, Epi... ORPHA:35173
Noonan Syndrome With Multiple Lentigines
Low-set, posteriorly rotated ears, Severe sensorineural hearing impairment, Scoliosis, Intrauteri... ORPHA:500
Flynn-Aird Syndrome
Scoliosis, Abnormality of the thyroid gland, Joint stiffness, Ataxia, Cachexia, Kyphosis, Progres... ORPHA:2047
Koolen-De Vries Syndrome
Epicanthus, Hip dislocation, Hip dysplasia, Scoliosis, Narrow palm, Widely spaced teeth, Upslante... OMIM:610443
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Scoliosis, Congenital ptosis, Abnormality of the hand, Slanting of the palpebral fiss... ORPHA:476126
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hip dysplasia, Steppage gait, Knee flexion contracture, Tip-toe gait, Kyphosis, Scapul... OMIM:615290
Trisomy 9P
Scoliosis, Abnormal nasal morphology, Protruding ear, Short neck, Downslanted palpebral fissures,... ORPHA:236
Oculodentodigital Dysplasia
Camptodactyly of finger, Epicanthus, Tooth agenesis, Abnormal cortical bone morphology, Abnormal ... ORPHA:2710
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epicanthus, Conical incisor, Synophrys, Attention deficit hyperactivity disorder, Thick eyebrow, ... ORPHA:73223
Cockayne Syndrome B
Square pelvis bone, Abnormal auditory evoked potentials, Slender nose, Carious teeth, Hypoplastic... OMIM:133540
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
X-Linked Acrogigantism
Polyphagia, Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, ... ORPHA:300373
Sandhoff Disease
Recurrent respiratory infections, Ataxia, Kyphosis, Hearing impairment, Failure to thrive ORPHA:796
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Williams-Beuren Syndrome
Broad nasal tip, Epicanthus, Diabetes mellitus, Early onset of sexual maturation, Gait imbalance,... OMIM:194050
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Epicanthus, Scoliosis, Protruding ear, Central hypothyroidism, Lumbar scoliosis, Hearing impairme... OMIM:300998
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Epicanthus, Scoliosis, Bifid uvula, Cleft palate, Single transverse palm... OMIM:114300
Mucopolysaccharidosis Type 4
Grayish enamel, Scoliosis, Hearing impairment, Carious teeth, Gait disturbance, Short neck, Coxa ... ORPHA:582
Hypomelanosis Of Ito
Irregularly spaced teeth, Epicanthus, Hand polydactyly, Scoliosis, Syndactyly, Kyphosis, Radial d... OMIM:300337
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Short neck, Abnormal hip bone morphology, Malar prominence, Short stature, Abnormal... ORPHA:2522
Pediatric-Onset Graves Disease
Graves disease, Goiter, Polyphagia, Craniosynostosis, Hyperactivity, Intrauterine growth retardat... ORPHA:525731
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Hyperactivity, Increased circulating free T3, Decreased thyro... OMIM:275000
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Scoliosis, Rocker bottom foot, Hearing impairment,... OMIM:619951
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Camptodactyly of finger, Camptodactyly, High palate, Scoliosis, O... OMIM:300963
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Gm1 Gangliosidosis
Camptodactyly of finger, Broad nasal tip, Scoliosis, Abnormal diaphysis morphology, Narrow mouth,... ORPHA:354
Mucopolysaccharidosis, Type Vii
Scoliosis, Widely spaced teeth, Chronic bronchitis, Thick eyebrow, Hearing impairment, Short neck... OMIM:253220
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, High palate, Conductive hearing impairment, Primary amenorrhea, Abnormal pinna mor... OMIM:603457
Familial Osteodysplasia, Anderson Type
Scoliosis, Tooth malposition, Abnormal cortical bone morphology, Thick eyebrow, Carious teeth, La... ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Unsteady gait, Protruding ear, Ataxia, Synophrys, Mandibular prognathia, Kyphosis, Sin... OMIM:300861
Intellectual Developmental Disorder, Autosomal Dominant 57
Broad nasal tip, Epicanthus, Scoliosis, Upslanted palpebral fissure, Narrow mouth, Blepharophimos... OMIM:618050
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Scoliosis, Unsteady gait, Ataxia, Loss of ambulation, Short stat... OMIM:618124
Fountain Syndrome
Short distal phalanx of finger, Epicanthus, Scoliosis, Thick eyebrow, Large hands, Thick lower li... ORPHA:3219
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Hip dislocation, Abnormal palate morphology, Increased laxity of fingers, Short neck, ... ORPHA:75840
Jaberi-Elahi Syndrome
Low-set ears, Scoliosis, Inability to walk, Joint stiffness, Protruding ear, Short nose, Kyphosis... OMIM:617988
Monosomy 22Q13.3
Epicanthus, Long eyelashes, Hyperactivity, Hypohidrosis, Malar flattening, Sacral dimple, Thick e... ORPHA:48652
Cockayne Syndrome Type 2
Scoliosis, Widely spaced primary teeth, Anodontia, Gait disturbance, Ataxia, Difficulty walking, ... ORPHA:90322
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Kyphosis, Broad femoral neck, Abno... ORPHA:2114
Angelman Syndrome
Polyphagia, Scoliosis, Inability to walk, Hyperactivity, Ataxia, Broad-based gait, Precocious pub... ORPHA:72
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Scoliosis, Inability to walk, Cleft palate, Sparse eyebrow, Single transverse palmar ... ORPHA:464738
Chromosome 3Q13.31 Deletion Syndrome
Low-set ears, Epicanthus, High palate, Proximal placement of thumb, Downslanted palpebral fissure... OMIM:615433
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Scoliosis, Bifid uvula, Narrow palm, Cleft palate, Long fingers, Sparse eyebrow, Smooth philtrum,... OMIM:309583
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Protruding ear, Hearing impairment, Thin vermilion border, Kyphoscoliosis, Angulated h... OMIM:614856
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Dysostosis, Stanescu Type
Scoliosis, Tooth agenesis, Carious teeth, Brachydactyly, Abnormal nasal morphology, Short neck, A... ORPHA:1798
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Cleft palate, Flattened fe... ORPHA:93284
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity, Dysphagia, Joint hypermobility, Flexion contracture OMIM:618323
8P23.1 Microdeletion Syndrome
Epicanthus, Proximal placement of thumb, Upslanted palpebral fissure, Broad thumb, Abnormal aorti... ORPHA:251071
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Hearing impairment, Cleft palate, Spinal rigidity, Small epiphyses, Cervical instabili... ORPHA:94068
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Upslanted palpebral fissure, Cleft palate, Slender toe, Narrow mouth, Sparse e... ORPHA:3063
Ogden Syndrome
Low-set ears, Scoliosis, Pulmonary artery stenosis, Downslanted palpebral fissures, Underdevelope... ORPHA:276432
Hajdu-Cheney Syndrome
Delayed puberty, Short distal phalanx of finger, Scoliosis, Partial absence of toe, Thick eyebrow... ORPHA:955
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Sensorineural hearing impairment, Short neck ORPHA:2744
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Epicanthus, Scoliosis, Short greater sciatic notch, Six lumbar ve... OMIM:312870
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Failure to thrive, Homocystinuria, Growth delay, Abnormal posturing, Microg... OMIM:614857
Achondroplasia
Trident hand, Rhizomelia, Hearing impairment, Bowing of the legs, Brachydactyly, Abnormal iliac w... ORPHA:15
Cockayne Syndrome
Delayed puberty, Scoliosis, Inability to walk, Agenesis of permanent teeth, Diabetes mellitus, Ke... ORPHA:191
Bruck Syndrome 1
Scoliosis, Osteoporosis, Vertebral wedging, Knee flexion contracture, Short stature, Kyphosis, Pl... OMIM:259450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Hearing impairment, Large earlobe, Postaxial foot polydactyly, Small for gest... OMIM:301056
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Narrow palate, Supernumerary tooth, Sagittal craniosynostosis, Short phalanx of... OMIM:614188
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Short stature, Hyperinsulinemia, Hypergonadotropic hypogonadism, Kyphosis, Short toe, Ty... ORPHA:3085
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad thumb, Narrow palate, Supernumerary tooth, Carious teeth, Vascular ring, Recurrent respirat... ORPHA:353281
Crisponi Syndrome
Camptodactyly of finger, High palate, Scoliosis, Hypohidrosis, Kyphosis, Anteverted nares, Wide n... ORPHA:1545
Huntington Disease-Like 1
Gait disturbance, Restlessness, Bradykinesia, Gait ataxia, Abnormal shoulder morphology, Abnormal... ORPHA:157941
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short distal phalanx of finger, Camptodactyly of finger, Scoliosis, Flattened epiphysis, Rhizomel... OMIM:143095
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity, Hyposmia, Hyperinsulinemia, Insulin resistance, Anosmia, Increased serum leptin OMIM:617885
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Broad nasal tip, Atlantoaxial instability, Thick nasal alae, Epip... ORPHA:79345
Mohr-Tranebjaerg Syndrome
Intrinsic hand muscle atrophy, Dysphagia, Progressive sensorineural hearing impairment, Increased... OMIM:304700
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Hallux valgus, Malar flattening, Kyphosis, Osteopenia, Contracture of the proximal int... OMIM:130060
Arthrogryposis, Distal, Type 4
Camptodactyly, Scoliosis, Distal arthrogryposis, Lumbar scoliosis, Tibial deviation of toes, Hypo... OMIM:609128
Chst3-Related Skeletal Dysplasia
Scoliosis, Abnormal form of the vertebral bodies, Rhizomelia, Abnormality of the elbow, Short met... ORPHA:263463
1P36 Deletion Syndrome
Camptodactyly of finger, Epicanthus, Scoliosis, Hip dysplasia, Abnormal eyebrow morphology, Narro... ORPHA:1606
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... ORPHA:79239
3C Syndrome
Scoliosis, Cleft palate, Brachydactyly, Recurrent respiratory infections, Hand polydactyly, Short... ORPHA:7
Classical-Like Ehlers-Danlos Syndrome Type 2
Hip dislocation, Tooth malposition, Diabetes mellitus, Keratoconjunctivitis sicca, Shoulder dislo... ORPHA:536532
Peters Plus Syndrome
Rhizomelia, Widely spaced teeth, Upslanted palpebral fissure, Short palpebral fissure, Cleft pala... ORPHA:709
Marshall-Smith Syndrome
Short distal phalanx of finger, Scoliosis, Hip dysplasia, Large sternal ossification centers, Cho... OMIM:602535
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Se... ORPHA:3344
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Epicanthus, Scoliosis, Hip dysplasia, Bifid uvula, Upslanted palpebral f... OMIM:607872
Wagro Syndrome
Polyphagia, Low-set ears, Agitation, Malar flattening, Downslanted palpebral fissures, Mandibular... OMIM:612469
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Scoliosis, Cleft palate, Narrow mouth, Long palm, Broad alveolar ridges,... ORPHA:2215
Masa Syndrome
Kyphosis, Short stature, Adducted thumb, Talipes equinovarus, Hyperlordosis, Shuffling gait OMIM:303350
Emanuel Syndrome
Scoliosis, Upslanted palpebral fissure, Hearing impairment, Cleft palate, Recurrent respiratory i... OMIM:609029
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Anterior atlanto-occipital dislocation, Scoliosis, Hip dysplasia, Atelec... ORPHA:536467
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Gait disturbance, Tip-toe gait, Kyphosis, Short stature, Spinal rigidity, Hyperlordosis OMIM:617404
Myopathy, Centronuclear, X-Linked
High palate, Arachnodactyly, Slender toe, Dental malocclusion, Flexion contracture OMIM:310400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Scoliosis, Radial deviation of finger, Kyphoscoliosis, Thick lower lip vermilion, Dia... OMIM:301040
Dystonia 1, Torsion, Autosomal Dominant
Scoliosis, Inability to walk, Blepharospasm, Kyphosis, Dysphagia, Abnormal posturing, Multiple jo... OMIM:128100
Fraser Syndrome
Toe syndactyly, Bifid tongue, Cleft upper lip, Cryptophthalmos, Low-set, posteriorly rotated ears... ORPHA:2052
Myopathy, Centronuclear, 2
High palate, Scoliosis, Intrauterine growth retardation, Kyphosis, Scapular winging, Waddling gai... OMIM:255200
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Upslanted palpebral fissure, Anteverted nar... OMIM:615538
Hyperlysinemia
Craniosynostosis, Hypoplasia of the antihelix, High palate, Hyperactivity, Hyperlysinuria, Hypopl... ORPHA:2203
Tenorio Syndrome
Macroglossia, Scoliosis, Gait disturbance, Recurrent aphthous stomatitis, Keratoconjunctivitis si... OMIM:616260
Bethlem Myopathy 2
Scoliosis, Hip dislocation, Distal joint laxity, Kyphosis, Scapular winging, Flexion contracture OMIM:616471
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Trisomy 13
Low-set ears, Abnormality of the dentition, Scoliosis, Abnormal eyelash morphology, Abnormal heli... ORPHA:3378
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Upslanted palpebral fissure, High, narrow palate, Tapered finger, Ob... OMIM:619255
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Hip dysplasia, Generalized joint laxity, Abnormality of the temporomandibular joint, H... ORPHA:536471
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Knee flexion contracture, Kyphosis, Hip contracture, Talipes equinovarus, Arthrogrypos... OMIM:600175
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Depressed nasal ridge, Abnormal pinna morphology, Underdeveloped nasal alae, Deep p... ORPHA:77300
Distal Triplication 15Q
Craniosynostosis, Telecanthus, Camptodactyly, Low-set ears, Retrognathia, High palate, Scoliosis,... ORPHA:314588
Noonan Syndrome 14
Epicanthus, Prominent nasolabial fold, Sparse eyebrow, Short neck, Cubitus valgus, Hyperhidrosis,... OMIM:619745
Lateral Meningocele Syndrome
Scoliosis, Cleft palate, Smooth philtrum, Conductive hearing impairment, Short neck, Aortic aneur... OMIM:130720
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Kyphoscoliosis, F... ORPHA:93360
Localized Scleroderma
Abnormality of the dentition, Hashimoto thyroiditis, Sclerosis of finger phalanx, Arthritis, Dent... ORPHA:90289
Hurler Syndrome
Calvarial hyperostosis, Broad nasal tip, Hearing impairment, Flared iliac wing, Diaphyseal thicke... OMIM:607014
Osteomesopyknosis
Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic... ORPHA:2777
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Sensorineural hearing impairment, Male infertility OMIM:608653
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Scoliosis, Abnormal cortical bone morphology, Bifid uvula, Choanal atresia, Faci... ORPHA:2658
Smith-Mccort Dysplasia 1
Scoliosis, Atlantoaxial instability, Irregular epiphyses, Metaphyseal irregularity, Iliac crest s... OMIM:607326
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Scoliosis, Hip dysplasia, Short thumb, Upslanted palpebral fissure, Broad thumb, Short neck, Broa... OMIM:620224
Type 1 Diabetes Mellitus
Diabetes mellitus, Polydipsia, Polyphagia, Hyperglycemia OMIM:222100
Vici Syndrome
Epicanthus, Cleft palate, Abnormality of the thymus, Everted upper lip vermilion, Cleft upper lip... OMIM:242840
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Narrow mouth, Preaxial hand polydactyly, Short phalanx of finger, Brachydactyl... ORPHA:508533
Meier-Gorlin Syndrome 6
Delayed puberty, Hip dysplasia, Entropion, Cleft palate, Recurrent respiratory infections, Patell... OMIM:616835
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Primary amenorrhea, Abnormal eyebrow morphology, Contracture of the proximal int... ORPHA:2232
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Chromosome Xq26.3 Duplication Syndrome
Polyphagia, Hypopituitarism, Elevated circulating growth hormone concentration, Increased circula... OMIM:300942
Coffin-Siris Syndrome 4
Scoliosis, Thick eyebrow, Hearing impairment, Cleft palate, Short 5th finger, Thick nasal alae, E... OMIM:614609
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Ullrich Congenital Muscular Dystrophy 1
High palate, Scoliosis, Hip dislocation, Slender build, Protruding ear, Increased laxity of finge... OMIM:254090
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Open mouth, Scoliosis, Slender build, Short upper lip, Malar flattening, Mandib... ORPHA:364028
Atelis Syndrome 2
Low-set ears, Epicanthus, Diastema, High palate, Protruding ear, Attention deficit hyperactivity ... OMIM:620185
O'Donnell-Luria-Rodan Syndrome
Downslanted palpebral fissures, Kyphosis, Tapered finger OMIM:618512
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Low-set ears, Epicanthus, Pulmonary hypoplasia, Intrauterine gr... ORPHA:2257
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Rothmund-Thomson Syndrome, Type 2
Prominent antihelix, Epicanthus, Short thumb, Agenesis of permanent teeth, Absent eyelashes, Spar... OMIM:268400
Weismann-Netter Syndrome
Calvarial hyperostosis, Scoliosis, Severe short stature, Lateral femoral bowing, Delayed eruption... OMIM:112350
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Diabetes mellitus, Osteoporosis, Kyphosis, Dental crowding, Narrow mouth, Sensorineura... OMIM:615381
Craniopharyngioma
Polyphagia, Delayed puberty, Hypopituitarism, Hypogonadism, Increased circulating prolactin conce... ORPHA:54595
Aminopterin/Methotrexate Embryofetopathy
Low-set, posteriorly rotated ears, Pulmonary artery atresia, Epicanthus, Finger syndactyly, Intra... ORPHA:1908
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Kyphosis, Hearing impairment, Failure to thrive, Neonatal death,... OMIM:618237
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Epicanthus, Butterfly vertebrae, Abnormal pinna morphol... OMIM:607143
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Holoprosencephaly 9
Prominent antihelix, Solitary median maxillary central incisor, Cleft palate, Single naris, Cleft... OMIM:610829
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, Abnor... OMIM:618291
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Maternal diabetes, Pulmonary artery atresia ORPHA:1208
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Limb ataxia, Kyphosis, Hearing impairment, Gait ataxia, Ptosis, Dysmetria OMIM:610743
Lateral Meningocele Syndrome
Epicanthus, Scoliosis, Smooth philtrum, Conductive hearing impairment, Short neck, Malar flatteni... ORPHA:2789
Meier-Gorlin Syndrome 1
Hearing impairment, Short palpebral fissure, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of th... OMIM:224690
Stickler Syndrome
Epicanthus, Hip dislocation, Slender build, Tooth agenesis, Abnormal diaphysis morphology, Scolio... ORPHA:828
Gm1-Gangliosidosis, Type Iii
Scoliosis, Ataxia, Hypoplastic acetabulae, Foam cells, Short stature, Kyphosis, Platyspondyly, Fl... OMIM:230650
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Scoliosis, Tooth malposition, Inability to walk, Bifid uvula, Calcaneovalgus deformity, Cleft har... ORPHA:261537
Basel-Vanagaite-Smirin-Yosef Syndrome
Uplifted earlobe, Low-set ears, Epicanthus, Retrognathia, High palate, Scoliosis, Downslanted pal... OMIM:616449
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Epicanthus, Scoliosis, Short thumb, Hearing impairment, Cleft pa... ORPHA:280
Stickler Syndrome, Type I
Scoliosis, Bifid uvula, Osteoarthritis, Cleft palate, Spondylolisthesis, Conductive hearing impai... OMIM:108300
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Bilateral sensorineural hearing i... OMIM:611102
Focal Dermal Hypoplasia
Broad nasal tip, Oligodontia, Scoliosis, Short metatarsal, Cleft palate, Toe syndactyly, Cleft up... OMIM:305600
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Scoliosis, Short neck, Finger syndact... ORPHA:2311
Cleidocranial Dysplasia 1
Spondylolysis, Scoliosis, Hip dislocation, Hearing impairment, Cleft palate, Spondylolisthesis, N... OMIM:119600
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Gait disturbance, Ataxia, Kyphosis, Hearing impairment, Distal upper limb amyotrophy ORPHA:101075
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Hip dislocation, Unsteady gait, Ataxia, Difficulty walking, Short stature, Kyphosis, P... ORPHA:464282
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
De Barsy Syndrome
Recurrent sinopulmonary infections, Epicanthus, Progressive cerebellar ataxia, Generalized joint ... ORPHA:2962
Mgat2-Cdg
Prominent antihelix, Low-set, posteriorly rotated ears, Long eyelashes, Open mouth, Scoliosis, Po... ORPHA:79329
Gangliocytoma
Polyphagia, Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, ... ORPHA:251937
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Spermatogenic Failure 25
Cryptozoospermia, Male infertility, Non-obstructive azoospermia, Early spermatogenesis maturation... OMIM:617960
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Epicanthus, Scoliosis, Protruding ear, Bilateral ptosis, Overlapping toe, Short fourth metatarsal... OMIM:619557
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Limitation of joint mobility, Ptosis, Clinodac... ORPHA:3454
Osteogenesis Imperfecta, Type Ix
Scoliosis, Short lower limbs, Kyphosis, Multiple prenatal fractures, Platyspondyly, Bowing of lim... OMIM:259440
Geroderma Osteodysplasticum
Recurrent lower respiratory tract infections, Periodontitis, Increased susceptibility to fracture... OMIM:231070
Focal Dermal Hypoplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the lungs, Tooth agenesis, Scoliosis, Hearing impa... ORPHA:2092
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Abnormality of the pulmonary artery, Upper limb asymmetry ORPHA:90308
Holoprosencephaly
Aplasia/Hypoplasia of the lungs, Epicanthus, Tooth agenesis, Scoliosis, Median cleft lip and pala... ORPHA:2162
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Kyphosis, Anteverted nares, Pulmonary cyst, Micrognathia, Depressed nasal bridge, ... OMIM:618272
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Long eyelashes, Epicanthus, Ataxia, Difficulty... OMIM:618476
Silver-Russell Syndrome Due To A Point Mutation
Dysmenorrhea, Small for gestational age, Low-set ears, Polydactyly, Ectrodactyly, Syndactyly, Int... ORPHA:397590
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Broad nasal tip, Epicanthus, Scoliosis, Hypoparathyroidism, Cleft palate, Narrow palate, Cupped e... OMIM:618223
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar interpedicular narrowing, Rhizomelia, Metaphyseal irregularity, Short dental root, Small e... OMIM:271510
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Abnormal metaphysis morphology, Short stature, Kyphosis, Hearing... ORPHA:93274
Cole-Carpenter Syndrome
Scoliosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Downslanted pal... ORPHA:2050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal jaw morphology, Epicanthus, Tooth malposition, Scoliosis, Bifid uvula, Inability to walk... ORPHA:261552
Campomelic Dysplasia
Shortening of all phalanges of the toes, Hip dislocation, Epicanthus, Scoliosis, Recurrent lower ... OMIM:114290
Lopes-Maciel-Rodan Syndrome
Scoliosis, Unsteady gait, Agitation, Kyphosis, Dysphagia, Bradykinesia, Small hand, Short foot OMIM:617435
Typical Nemaline Myopathy
High palate, Scoliosis, Hip dislocation, Gait disturbance, Genu varum, Short neck, Kyphosis, Spin... ORPHA:171436
Microphthalmia, Lenz Type
Camptodactyly of finger, Low-set, posteriorly rotated ears, External ear malformation, Abnormalit... ORPHA:568
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Hip dislocation, Bifid uvula, Flattened epiphysis, Atlantoaxial instability, Hearing i... OMIM:183900
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent streptococcus pneumoniae infections, Gait disturbance, Titubation, Dysphagia, Bradykine... ORPHA:225147
Kleefstra Syndrome 2
Scoliosis, Bifid uvula, Thick eyebrow, Kyphosis, Everted lower lip vermilion, Growth delay OMIM:617768
Holt-Oram Syndrome
Down-sloping shoulders, Abnormality of the humerus, Scoliosis, Absent thumb, Joint stiffness, Pho... ORPHA:392
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170