Gene Summary

Name:
noggin
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal forebrain development Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
small kidney Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal caudal vertebrae morphology Nogem1(IMPC)Mbp HET   Early adult 1.19×10-06
edema Nogem1(IMPC)Mbp HET E15.5 0.00
abnormal somite shape Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal snout morphology Nogem1(IMPC)Mbp HET Early adult 5.43×10-08
abnormal vitelline vasculature morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Nogem1(IMPC)Mbp HOM   Early adult 0.00
abnormal visceral yolk sac morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Nogem1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Nogem1(IMPC)Mbp HET E15.5 0.00
abnormal bone structure Nogem1(IMPC)Mbp HET Early adult 3.36×10-11
increased circulating alkaline phosphatase level Nogem1(IMPC)Mbp HET Early adult 2.66×10-06
abnormal neural tube closure Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal blood vessel morphology Nogem1(IMPC)Mbp HOM E9.5 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E9.5

Images

19 Images

Gross Morphology Embryo E14.5-E15.5

Images

5 Images

Histopathology

Images

3 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Human diseases caused by Nog mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr... OMIM:618157
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Cervical Rib
Cervical ribs OMIM:117900
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Lipedema
Edema OMIM:614103
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Isolated Growth Hormone Deficiency, Type Ii
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:173100
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Schisis Association
Anencephaly, Encephalocele, Tracheoesophageal fistula, Anal atresia, Spina bifida, Cleft palate ORPHA:63862
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Decreased response to growth hormone stim... OMIM:221750
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Cocaine Embryofetopathy
Intestinal atresia, Encephalocele ORPHA:1911
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Intestinal pseudo-obstruction, Gastroesophageal reflux, ... OMIM:619350
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Eosinophilic microabscess formation in the esophag... ORPHA:411696
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test OMIM:618160
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Sirenomelia
Tracheoesophageal fistula, Sirenomelia, Anal atresia, Spina bifida ORPHA:3169
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology, Delayed skeletal maturation, Radioulnar syn... ORPHA:3268
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Craniodiaphyseal Dysplasia
Optic atrophy, Stenosis of the external auditory canal, Conductive hearing impairment, Abnormal r... ORPHA:1513
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Septooptic Dysplasia
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Diabetes in... OMIM:182230
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Ectopic pos... ORPHA:67045
Acrodysplasia Scoliosis
Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypospadias, Anal atresia, Hypoplasia of penis ORPHA:1381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Missing ribs, Shor... ORPHA:1797
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Bifid scrotum, Urethral diverticulum, Anal atresia, Cleft palate, Displacemen... ORPHA:95706
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
High-Grade Dysplasia In Patients With Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Dysphagia, Esophageal obstruction ORPHA:231080
Oeis Complex
Ambiguous genitalia, male, Myelomeningocele, Intestinal malrotation, Labial hypoplasia, Pelvic ki... OMIM:258040
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism,... OMIM:615849
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Ambiguous genitalia, Cryptorchi... OMIM:615542
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Kyphosis, Flexion contracture, Short neck OMIM:168400
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Ectrodactyly, Myelomeningocele, Spina bifi... ORPHA:2437
Multiple Synostoses Syndrome
Joint stiffness, Conductive hearing impairment ORPHA:3237
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Scoliosis, Limb undergrowth ORPHA:177
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Spina bifida occulta OMIM:184400
Lumbar Syndrome
Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Myelomeningocele, Spina bifida, ... ORPHA:83628
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia, Spina bifida occulta ORPHA:1514
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Rectal atresia, Renal cyst, Anal atresia, Hydronephrosis, Stage 5 ch... OMIM:613390
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormal shoulder morphology, Chondrocalcinosis, Abnormality of the wrist... ORPHA:66627
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:614840
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Renal agenesis,... ORPHA:2578
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula OMIM:619083
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Carious teeth, Micrognathia, Short palm, Brachydactyly OMIM:101805
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Submucous cleft hard palate,... OMIM:619227
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari... OMIM:108760
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Isotretinoin Syndrome
Micrognathia, Sacral dimple, Spina bifida occulta ORPHA:2305
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula ORPHA:59315
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Abnormal form of the ... ORPHA:2311
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia OMIM:616553
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Cryptorchidism, Elevated circulating follicle stimulating hormone ... OMIM:620501
Lowe-Kohn-Cohen Syndrome
Anal atresia, Nephropathy, Anorectal anomaly ORPHA:2408
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:214300
Short Stature-Wormian Bones-Dextrocardia Syndrome
Renal hypoplasia/aplasia, Anterior hypopituitarism, High palate, Anal atresia, Midshaft hypospadi... ORPHA:2863
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Anorectal anomaly, Bifid scrotum, Bladder duplication... ORPHA:237
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Micrognathia, Hand clen... OMIM:618291
Jejunal Atresia
Jejunal atresia OMIM:243600
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the vertebral bodies, Scol... ORPHA:3219
Prune Belly Syndrome
Hydroureter, Anal atresia, Hydronephrosis, Congenital posterior urethral valve, Cryptorchidism, X... OMIM:100100
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Anal atresia, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, Short 4th metacarpal, Spina bifida occulta, Abnormal form of the vertebral b... ORPHA:1787
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Anal atresia, Esophageal atresia, Tracheoesophageal fistula OMIM:314390
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Micromelia ORPHA:64755
Fanconi Anemia, Complementation Group P
Pelvic kidney, Cryptorchidism, Horseshoe kidney OMIM:613951
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Pectus carinatum, Scoliosis, Thoracic kyphosis, Decr... OMIM:609223
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Vacterl/Vater Association
Occipital encephalocele, Hypospadias, Ectopic kidney, Hypoplasia of penis, Anencephaly, Anorectal... ORPHA:887
Treacher Collins Syndrome 2
Fusion of middle ear ossicles, Conductive hearing impairment, Microtia, Anotia OMIM:613717
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Martinez-Frias Syndrome
Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal atresia, Duoden... OMIM:601346
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Ana... ORPHA:2973
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Scoliosis, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat... ORPHA:1801
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Dysphagia OMIM:616029
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Spina bifida occulta, Hydrocephalus, Scoliosis, Hemivertebr... OMIM:613686
Ane Syndrome
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... ORPHA:157954
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Cloacal Exstrophy
Renal hypoplasia/aplasia, Abnormal clitoris morphology, Ectopic kidney, Abnormal fallopian tube m... ORPHA:93929
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Enlargement of the costochondral junction, Tarsal synos... OMIM:186500
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... ORPHA:2777
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno... OMIM:118100
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Trident acetabulum, Horizontal... OMIM:617405
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Spina bifida occulta, Labial hypoplasia,... OMIM:300707
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Coffin-Siris Syndrome 11
Bifid uvula, High palate, Esophageal atresia, Cleft soft palate OMIM:618779
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Abnormal rib morphology, Accelerat... ORPHA:1354
Fanconi Anemia, Complementation Group B
Hydrocephalus, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia OMIM:300514
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta ORPHA:2475
Distal Deletion 10P
Hypoplasia of penis, Ectopic anus, Anal atresia, Cleft palate, Polycystic ovaries, Cryptorchidism ORPHA:1580
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Anal atresia, Abnormality of the ure... ORPHA:3027
Brachyolmia Type 1, Hobaek Type
Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Pectu... OMIM:271530
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Fliedner-Zweier Syndrome
Anal atresia, High palate, Tracheoesophageal fistula, Meningocele OMIM:620511
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida occulta, Mandibular prog... OMIM:273750
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis ORPHA:85274
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Type I diabetes... OMIM:616113
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Hypogonadotropic hypogonadism, A... ORPHA:752
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Vacterl With Hydrocephalus
Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula, ... ORPHA:3412
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pelvic kidney, Vesicoureteral reflux, Micr... OMIM:603467
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstructive azoospermia... ORPHA:1646
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia OMIM:615272
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Scapular winging, Kyphosis, Flexion contracture, Hip dislo... OMIM:616471
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Cleft ... OMIM:601076
Otofaciocervical Syndrome
Abnormal clavicle morphology, Abnormal antihelix morphology, Scapular winging, Atresia of the ext... ORPHA:2792
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varum, Coxa valga, Sacr... OMIM:201000
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Bifid scrotum, Cryptorchidism, Perineal hypospadias, Micropenis OMIM:264600
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Cryptorchidism, Ectopic kidney ORPHA:401935
Cleidocranial Dysplasia
Supernumerary tooth, Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abno... ORPHA:1452
17Q12 Microduplication Syndrome
Cleft palate, Tracheoesophageal fistula ORPHA:261272
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc... ORPHA:753
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Conductive hearing impairment, Symphalangism of the 4th finger, Symphalangi... ORPHA:3246
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Genu valgum, Spina bifida occulta, Kyphosis ORPHA:2983
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Clinodactyly of the 5th finger, Spondylolisthesis, Sandal gap, Spina bifida occulta, Anterior ope... OMIM:617877
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Spina bifida occulta, Abnormal form... ORPHA:949
Gastroschisis
Intestinal malrotation, Volvulus, Intestinal perforation, Intestinal atresia ORPHA:2368
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Back pain, Hypoplastic sca... OMIM:169550
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Pyknoachondrogenesis
Stillbirth OMIM:265880
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sensorineural hearing impairment, Facial palsy, Abnormal rib morphology, Ge... ORPHA:2790
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy, Abnormality of the vertebral column OMIM:602475
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnorma... ORPHA:1018
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Small pituita... OMIM:619476
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagia OMIM:226600
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Alobar holopr... OMIM:610829
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Joint contracture, Kyphosis, Ankle clonus OMIM:611225
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Bilateral conductive hearing impairment, Abnormality... ORPHA:2010
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Anal atresia ORPHA:3469
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Richieri-Costa/Guion-Almeida Syndrome
Abnormal digit morphology, Mandibular prognathia, Spina bifida occulta OMIM:268850
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Pituitary hypothyroidism OMIM:619983
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Carious teeth, Short pal... ORPHA:1786
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis OMIM:613001
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney, Anal atresia OMIM:619318
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Rocker bottom foot, Adducted thumb, Flexion contracture of toe, Spina bifida occu... OMIM:193700
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification ORPHA:85179
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Fanconi Anemia, Complementation Group D2
Annular pancreas, Ectopic kidney, Duplicated collecting system, Esophageal atresia, Pelvic kidney... OMIM:227646
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression ORPHA:85168
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Sco... ORPHA:2635
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Anal atresia ORPHA:93950
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hydroceph... ORPHA:1834
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Anencephaly, Spina bifida ORPHA:2476
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Butterfly vertebral... ORPHA:52
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Dysphagia, Tracheoesophageal fistula ORPHA:142
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Atelosteogenesis, Type Ii
Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Increased intervertebral space, Scoliosi... OMIM:256050
Intellectual Developmental Disorder, X-Linked 99
Ectopic kidney, Hypospadias OMIM:300919
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Anal atresia, Nephroblastoma, Horseshoe... OMIM:610832
Cooper-Jabs Syndrome
Reduced bone mineral density, Low-set, posteriorly rotated ears, Abnormality of the middle ear, M... ORPHA:1488
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Pelvic kidney, Vesicoureteral reflux, High palate, Hydronephrosis, Cryptorc... OMIM:618653
Familial Expansile Osteolysis
Bone pain, Conductive hearing impairment, Pathologic fracture, Osteolysis OMIM:174810
Fanconi Anemia, Complementation Group R
Pelvic kidney, Anal atresia OMIM:617244
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydronephrosis, Renal malrota... OMIM:601186
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Diphallia
Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo... ORPHA:227
Seckel Syndrome 2
Ectopic kidney, Hypospadias, Microglossia OMIM:606744
Distal Duplication 15Q
Abnormal female external genitalia morphology, Cryptorchidism, High palate, Anal atresia ORPHA:1707
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Aganglionic megacolon, Anal atresia OMIM:235760
Septo-Optic Dysplasia Spectrum
Cleft palate, Esophageal atresia, Tracheoesophageal fistula ORPHA:3157
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Vesicoureteral reflux, Anal atresia, Bif... OMIM:617466
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint hypermobility, Kyphoscoliosis OMIM:236660
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Gastroesophageal reflux, Abnormal esophagus morphology, Ankyloglossia, Dysphagia, E... ORPHA:89842
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Aganglionic megacolon, Glandular hypospadias, Ectopic... ORPHA:2473
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Isolated Exencephaly
Holoprosencephaly, Anterior pituitary hypoplasia, Maternal diabetes, Posterior pituitary agenesis ORPHA:563612
Mosaic Trisomy 14
Hypospadias, Hypoplasia of penis, Ectopic anus, High palate, Cleft palate, Cryptorchidism ORPHA:1703
Autosomal Dominant Brachyolmia
Short thorax, Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Acalvaria
Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly ORPHA:945
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory can... ORPHA:100084
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Infantile Myofibromatosis
Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula ORPHA:2591
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Pterygium, Vertebral wedging, Pectus carinatum, Scolios... OMIM:259450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Immunodeficiency 12
Bronchiectasis, Esophageal stricture OMIM:615468
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Tarsal synostosis, Fused cervical vertebrae, Low-set ears, Fusion of midd... OMIM:157800
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Meningocele ORPHA:1759
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Feingold Syndrome
Esophageal atresia, Duodenal atresia ORPHA:1305
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Anterior pituitary hypoplasia, Hypopituitarism, Cryptorchidism ORPHA:1827
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Joint hypermobility, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morp... OMIM:602196
Acces Syndrome
Tracheoesophageal fistula OMIM:619959
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple, Anal atresia OMIM:619243
Winchester Syndrome
Carpal osteolysis, Arthropathy, Kyphosis, Generalized osteoporosis, Osteolysis involving tarsal b... OMIM:277950
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Conical incisor, Pleural lymphangi... OMIM:235510
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Sc... ORPHA:2780
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Hydronephrosis, Posterior pitu... ORPHA:464311
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thu... ORPHA:1120
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... ORPHA:464306
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo... OMIM:154230
Renal Agenesis, Bilateral
Abnormal intestine morphology, Sirenomelia, Cleft palate, Tracheoesophageal fistula ORPHA:1848
Distal Deletion 13Q
Renal hypoplasia/aplasia, Anencephaly, Encephalocele, Anal atresia, Ambiguous genitalia ORPHA:1590
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Hearing impairment, Pap... OMIM:122860
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Elbow flexion contracture, Hyperlordosis, Kyphosis, Hip contracture, Knee flexion cont... OMIM:600175
Metatropic Dysplasia
Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular roof, Cupped ribs, Long coccy... OMIM:156530
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck OMIM:300718
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia, Joint contracture of the 5th finger OMIM:248910
Fibrodysplasia Ossificans Progressiva
Limitation of joint mobility, Ectopic ossification in ligament tissue, Synostosis of joints, Hear... ORPHA:337
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, High palate, Crossed fused renal ectopia, Ambiguous genitalia, Micropenis OMIM:618142
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Low-set ears, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Anal atresia, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hyper... OMIM:601389
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
Miller-Dieker Lissencephaly Syndrome
Pelvic kidney, Cryptorchidism, Cleft palate, Duodenal atresia OMIM:247200
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Lymphatic Malformation 14
Lymphedema OMIM:620602
Renpenning Syndrome
High, narrow palate, Hypospadias, Anal atresia, Decreased testicular size, Cleft palate ORPHA:3242
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Knee pain, Arthritis, Hypoplasia of the od... OMIM:184100
Verheij Syndrome
Coloboma, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short... OMIM:615583
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility OMIM:618323
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Pituitary Adenoma 1, Multiple Types
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... OMIM:102200
3Mc Syndrome 1
Caudal appendage, Sacral dimple, Clinodactyly of the 5th finger, Spina bifida occulta, Single int... OMIM:257920
Mirage Syndrome
Hydrocephalus, Achalasia, Esophageal stricture, Gastroesophageal reflux OMIM:617053
Apert Syndrome
Narrow palate, Esophageal atresia, Hydrocephalus, Ectopic anus, Bifid uvula, Cleft palate ORPHA:87
Caudal Duplication
Ureteral duplication, Renal hypoplasia/aplasia, Intestinal duplication, Myelomeningocele, Cryptor... ORPHA:1756
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ... ORPHA:206549
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Myelomeningocele, Microphallu... ORPHA:94065
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... ORPHA:1836
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Pectus carinatum, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar... OMIM:313420
Isolated Hemihyperplasia
Nephroblastoma, Cryptorchidism, Myelomeningocele ORPHA:2128
Phaver Syndrome
Pterygium, Aplasia/Hypoplasia of the earlobes, Low-set ears, Abnormal rib morphology, Joint stiff... ORPHA:2876
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Schizophrenia 1
Renal agenesis, Ectopic kidney, Partially duplicated kidney OMIM:181510
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Narrow chest, Recurrent fractures, Wormian bones, Hearing impairment, Conductive hear... OMIM:616229
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short metatarsal, Spina bifida occu... ORPHA:96148
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias, Anal atresia, Umbilical hernia OMIM:175700
Fanconi Anemia, Complementation Group L
Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula, Cleft palate OMIM:614083
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Elbow dislocation, Aplasia... ORPHA:3236
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Autosomal Recessive Multiple Pterygium Syndrome
Spina bifida occulta, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Camptodactyly ... ORPHA:2990
Image Syndrome
Cryptorchidism, Hypospadias, Hypogonadism, Hydronephrosis ORPHA:85173
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Trisomy 18
Narrow palate, Anencephaly, Esophageal atresia, Anal atresia, Spina bifida, Cleft palate, Holopro... ORPHA:3380
Bladder Exstrophy And Epispadias Complex
Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Anteriorly... OMIM:600057
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Holoprosencephaly 2
Semilobar holoprosencephaly, Anterior pituitary agenesis, Alobar holoprosencephaly, Diabetes insi... OMIM:157170
Craniometaphyseal Dysplasia
Osteopetrosis, Abnormal cranial nerve morphology, Sensorineural hearing impairment, Facial palsy,... ORPHA:1522
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Bilateral cryptorchidism, Unilateral cryptorchidism, Abnormal scr... ORPHA:457083
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Dysphagia OMIM:615510
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Penile Agenesis
Rectal fistula, Hydroureter, Anorectal anomaly, Abnormality of the bladder, Bilateral renal agene... ORPHA:49
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:146110
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Hypospadias, Unilateral renal agenesis, Pelvic kidne... ORPHA:468631
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Mandibulofacial Dysostosis, Guion-Almeida Type
Cleft palate, Esophageal atresia OMIM:610536
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Dubowitz Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Spina bifida occulta, Delayed eruption of teeth, H... ORPHA:235
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Thakker-Donnai Syndrome
Anal atresia, Rectovaginal fistula, Tracheoesophageal fistula, Communicating hydrocephalus ORPHA:1780
Van Esch-O'Driscoll Syndrome
Bifid uvula, Spina bifida occulta, Esophageal atresia, Tracheoesophageal fistula OMIM:301030
Congenital Vertical Talus
Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Myelo... ORPHA:178382
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Fused cervical vertebrae,... OMIM:607323
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Otosclerosis, Hearing impairment, Wormian bones, Bowing of limbs du... OMIM:166220
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Pectus carinatum, Scoliosis, Kyphosis, Joint stiffness, Delayed skeletal maturation ORPHA:1548
Larsen Syndrome
Beaking of vertebral bodies, Spatulate thumbs, Spondylolysis, Multiple carpal ossification center... OMIM:150250
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism OMIM:261550
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Abnormality of the ureter, R... ORPHA:2842
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... OMIM:187760
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Limitation of joint mobility ORPHA:3145
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia ORPHA:1918
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Conductive hearing impairment, Generalized osteosclerosi... OMIM:607634
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Thin r... OMIM:618395
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short... ORPHA:66637
Trisomy 1Q
Congenital megaureter, Anal atresia, Hydronephrosis, Cleft palate, Small scrotum, Ambiguous genit... ORPHA:261344
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Scoliosis, Camptodactyly, Clinodactyly, Spina bifida occulta OMIM:617360
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis... OMIM:236700
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis OMIM:609384
Spondylometaphyseal Dysplasia, Type A4
Costochondral joint sclerosis, Enlargement of the costochondral junction, Pectus carinatum, Osteo... OMIM:609052
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Hashim... ORPHA:227982
Chromosome 3Pter-P25 Deletion Syndrome
Abnormal renal morphology, Cryptorchidism, High palate, Anal atresia OMIM:613792
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Retrognathia, Abnormal metaphysis morphology, Abnormal metacarpal morphol... ORPHA:2631
Larsen-Like Syndrome
Recurrent otitis media, Joint dislocation, Wide anterior fontanel, Low-set ears, Conductive heari... OMIM:608545
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Otosclerosis 10
Otosclerosis OMIM:615589
Meckel Syndrome, Type 9
Occipital encephalocele, Limb undergrowth, Talipes equinovarus OMIM:614209
Anus, Imperforate
Anal atresia OMIM:207500
Kbg Syndrome
Bilateral conductive hearing impairment, Thoracic kyphosis, Persistent open anterior fontanelle, ... ORPHA:2332
Seckel Syndrome 8
Ectopic kidney OMIM:615807
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Kyphosis, Camptodactyly, Short neck, Arthrogryposis multiplex congenita OMIM:618393
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Tracheoesophageal fistula ORPHA:3068
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Osteolysis ORPHA:3019
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheomalacia, Anomalous tracheal cartilage, Trache... ORPHA:95430
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Pectus carinatum, Stapes ankylosis, Low-set ears, Radioulnar synostosis OMIM:614701
Opitz Gbbb Syndrome
Rectourethral fistula, Hypospadias, Vesicoureteral reflux, High palate, Anal atresia, Cleft palat... OMIM:300000
Camptodactyly Syndrome, Guadalajara Type 3
Retrognathia, Distal shortening of limbs, Spina bifida occulta, Broad femoral neck, Short neck, S... ORPHA:488434
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p... OMIM:147060
Currarino Syndrome
Perianal abscess, Urinary incontinence, Anal stenosis, Rectovaginal fistula, Recurrent urinary tr... OMIM:176450
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Mandibul... ORPHA:1908
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malrotation, Volvulus,... ORPHA:210122
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Scoliosis, Kyphosis, Contrac... OMIM:130060
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Endometriosis, Recurrent urina... ORPHA:363444
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri... ORPHA:2114
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, High palate, Penile ... ORPHA:456328
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Gordon Syndrome
Cryptorchidism, High palate, Cleft palate ORPHA:376
Poland Syndrome
Short ribs, Kyphosis, Aplasia/Hypoplasia of the sternum, Finger symphalangism, Encephalocele, Apl... ORPHA:2911
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus... ORPHA:140952
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Hearing impairment, Wormian bones, Joint hypermobility, Finger joint hy... OMIM:166200
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l... OMIM:612290
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Barrel-shaped chest, Scoliosis, Limitation of joint mobility, Kyphosis, Hump-... OMIM:313400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Immunodeficiency 23