Gene Summary


IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Nogem1(IMPC)Mbp HET Early adult 5.90×10-09
preweaning lethality, complete penetrance Nogem1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitelline vasculature morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Nogem1(IMPC)Mbp HET E15.5 0.00
abnormal snout morphology Nogem1(IMPC)Mbp HET Early adult 7.62×10-08
abnormal neural tube morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Nogem1(IMPC)Mbp HOM E9.5 0.00
abnormal somite shape Nogem1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Nogem1(IMPC)Mbp HOM E9.5 0.00
small kidney Nogem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Nogem1(IMPC)Mbp HOM E9.5 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
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
abnormal forebrain development Nogem1(IMPC)Mbp HOM E9.5 0.00
hemorrhage Nogem1(IMPC)Mbp HOM E9.5 0.00
edema Nogem1(IMPC)Mbp HET E15.5 0.00
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.



3 Images


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 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
Matching phenotypes Source
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response t... OMIM:618157
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Cervical Rib
Cervical ribs OMIM:117900
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Edema OMIM:614103
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia 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
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Scheuermann Disease
Morbus Scheuermann, Osteochondrosis, Kyphosis OMIM:181440
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... OMIM:185800
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior hypopituitarism, Decreased response to growth hormone stimulati... OMIM:221750
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
7P22.1 Microduplication Syndrome
Abnormality of the kidney, Cryptorchidism ORPHA:314034
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Cocaine Embryofetopathy
Encephalocele, Intestinal atresia ORPHA:1911
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... OMIM:182940
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Anal atresia, Tracheoesophageal fistula, Spina bifida, Sirenomelia ORPHA:3169
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... OMIM:184460
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... ORPHA:3268
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis ORPHA:1381
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy, Abnormal r... ORPHA:1513
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Diabetes in... OMIM:182230
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Joint swelling, Joint stiffness, Abnormality of the auditory canal... ORPHA:66627
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Bifid uterus, Bladder exstrophy, Anteriorly place... OMIM:258040
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Acrofacial Dysostosis, Catania Type
Short palm, Spina bifida occulta, Carious teeth OMIM:101805
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma OMIM:104600
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Missin... ORPHA:1797
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... OMIM:183802
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Missing rib... OMIM:613686
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... OMIM:601829
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
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
Non-Syndromic Posterior Hypospadias
Anal atresia, Cleft palate, Bifid scrotum, Micropenis, Urethral diverticulum, Ventral shortening ... ORPHA:95706
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Intestinal atresia ORPHA:2368
Fanconi Anemia, Complementation Group O
Anal atresia, External genital hypoplasia, Renal cyst, Hydronephrosis, Cryptorchidism, Rectal atr... OMIM:613390
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum OMIM:168400
Lumbar Syndrome
Myelomeningocele, Anal atresia, Ectopic anus, Micropenis, Renal agenesis, Hypospadias, Bifid scro... ORPHA:83628
Bifid Nose, Autosomal Dominant
Cryptorchidism OMIM:109740
Culler-Jones Syndrome
Hypopituitarism, Ectopic posterior pituitary, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Multiple Synostoses Syndrome
Conductive hearing impairment, Joint stiffness ORPHA:3237
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... OMIM:609813
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal metaphysis morphology ORPHA:177
Sprengel Deformity
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta OMIM:184400
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Finger syndactyly, Spina bifida occulta ORPHA:1514
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Microphallus OMIM:614840
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Pituitary Stalk Interruption Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Adrenal hypoplasia, Ectopic poste... ORPHA:95496
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Bicornuate uterus, Spina bifida occulta, Clitoral hypertrophy, Anal stenosis, ... OMIM:300707
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula OMIM:619083
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Cryptorchidism, Intestinal atresia, Intestinal malrotatio... ORPHA:2970
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal for... ORPHA:40
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Bicornuate uterus, Unilateral renal agenesis, Intestinal malrotation, Sp... OMIM:156810
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, Micrognathia, 2-3 finger syndactyly, S... ORPHA:2437
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Hydrocephalus, Esophageal atresia, Holoprosencephaly ORPHA:77298
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Decreased circulating free T3, Abnormal circulating insulin concentration, Elevated circulating t... ORPHA:171706
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Tracheal stenosis, Intestinal atresia ORPHA:93941
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Neuronal Intranuclear Inclusion Disease
Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:2289
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism OMIM:301033
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus, Renal dysplasia, Ectopic kid... ORPHA:2578
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia, Nephropathy ORPHA:2408
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Anterior hypopituitari... ORPHA:2863
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atresia, Submucous ... OMIM:619227
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Esophageal stenosis OMIM:616553
Anal atresia, Hydrocephalus, Tracheoesophageal fistula, Esophageal atresia, Aganglionic megacolon ORPHA:59315
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Prune Belly Syndrome
Anal atresia, Cryptorchidism, Hydroureter, Xerostomia, Hydronephrosis, Urethral valve, Congenital... OMIM:100100
Isotretinoin Syndrome
Micrognathia, Sacral dimple, Spina bifida occulta ORPHA:2305
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Fanconi Anemia, Complementation Group P
Pelvic kidney, Cryptorchidism, Horseshoe kidney OMIM:613951
Duplication Of Urethra
Uterus didelphys, Clitoral hypertrophy, Rectourethral fistula, Anorectal anomaly, Bladder duplica... ORPHA:237
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Spren... OMIM:214300
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Anal atresia, Renal hypoplasia/aplasia, Intestinal malrotation, Tracheo... ORPHA:2973
Vacterl/Vater Association
Anal atresia, Hypoplasia of penis, Cleft palate, Bifid scrotum, Renal agenesis, Hypospadias, Trac... ORPHA:887
Jejunal Atresia
Jejunal atresia OMIM:243600
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Caudal Regression Syndrome
Anal atresia, Renal agenesis, Abnormality of the ureter, Ureteral duplication, Arrhinencephaly, A... ORPHA:3027
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Scoliosis, Abnormal form of the ... ORPHA:3219
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Becker Nevus Syndrome
Kyphosis, Scoliosis, Micromelia, Abnormality of tibia morphology, Spina bifida occulta ORPHA:64755
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, Small hand, Micrognathia, Short neck, Scoliosis, Abnormal form of the verteb... ORPHA:1787
Martinez-Frias Syndrome
Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intestinal hypoplasia, Jejun... OMIM:601346
Holoprosencephaly 9
Hydrocephalus, Decreased response to growth hormone stimulation test, Cryptorchidism, Holoprosenc... OMIM:610829
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Abnormal intervertebral disk morphology, Anomalous pulmo... ORPHA:2311
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, C... ORPHA:1646
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... OMIM:259440
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Tracheoesophageal fistula OMIM:314390
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Anal atresia, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Pectus excavatum, Short sternum, Carpal synostos... OMIM:186500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Lateral clavicle... OMIM:617405
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Anal atresia, Hypertrophy of the urinary bladder, Renal dysplasia, Renal hypoplasia, Urethral obs... OMIM:601389
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Coffin-Siris Syndrome 11
High palate, Esophageal atresia, Bifid uvula, Cleft soft palate OMIM:618779
Pseudovaginal Perineoscrotal Hypospadias
Ambiguous genitalia, male, Bifid scrotum, Micropenis, Cryptorchidism, Perineal hypospadias OMIM:264600
Distal Monosomy 10P
Ectopic anus, Anal atresia, Hypoplasia of penis, Cleft palate, Polycystic ovaries, Cryptorchidism ORPHA:1580
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Sprengel anomaly, Conductive hearing impairment, Cervical C2/C3... OMIM:118100
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Micropenis ORPHA:85274
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta ORPHA:2475
Cloacal Exstrophy
Myelomeningocele, Anal atresia, Abnormality of the clitoris, Renal hypoplasia/aplasia, Hypoplasia... ORPHA:93929
Intellectual Developmental Disorder, X-Linked 99
Hypospadias, Gastroesophageal reflux, Ectopic kidney OMIM:300919
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Ambiguou... ORPHA:753
Fanconi Anemia, Complementation Group B
Tracheoesophageal fistula, Hydrocephalus, Esophageal atresia, Duodenal atresia OMIM:300514
Increased circulating prolactin concentration OMIM:615555
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia OMIM:312190
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... ORPHA:1354
Xk Aprosencephaly Syndrome
Anal atresia, Abnormal external genitalia ORPHA:3469
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Tracheoesophageal fistula, Arrhinencephaly, Spi... ORPHA:3412
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Anteriorly placed anus OMIM:615272
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Short ribs, Short neck, Short 5th fin... OMIM:273750
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Cleft palate ORPHA:2476
Fanconi Anemia, Complementation Group F
Duodenal atresia, Decreased response to growth hormone stimulation test, Renal hypoplasia, Pelvic... OMIM:603467
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate ORPHA:1074
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:146110
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Micropenis OMIM:218450
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous ... ORPHA:752
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism OMIM:301035
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Anal atresia, Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ure... ORPHA:227
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Renal agenesis, Unilateral renal agene... OMIM:601076
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Abnormal clavicle m... ORPHA:2792
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, 11 pairs of ribs, Anterior open-bit... OMIM:617877
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Clavicular sclerosis, Abnormal rib morphology, Generalized oste... ORPHA:2790
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Retinitis Pigmentosa 59
Cryptorchidism, Renal insufficiency, Micropenis OMIM:613861
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Seckel Syndrome 2
Hypospadias, Microglossia, Ectopic kidney OMIM:606744
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Stillbirth OMIM:265880
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
14Q24.1Q24.3 Microdeletion Syndrome
Intestinal malrotation, Cryptorchidism, Ectopic kidney ORPHA:401935
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... ORPHA:261529
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Decreased testicular size ORPHA:93950
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Limited hip extension, Conductive hearing impairment, Generalized joint laxity, Genu varum, Limit... OMIM:100800
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Genu valgum, Short neck, Spina bifida occulta ORPHA:2983
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Genu valgum, Hypoplasia of th... OMIM:201000
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue ORPHA:1839
Bruck Syndrome 1
Hip contracture, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Pectus carinatum, Protrusio ac... OMIM:259450
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism of the 5th finger, Conductive hearing impairment, Symphalangism of the 4th finger, ... ORPHA:3246
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Scapular winging, Distal joint laxity OMIM:616471
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Myelopathy, Spinal cord compression OMIM:602475
Cleidocranial Dysplasia
Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Supernumerary tooth, Brachydactyly, M... ORPHA:1452
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Dysphagia, Esophageal stricture, Abnormal esophagus morphology OMIM:226600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal t... ORPHA:1018
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Vaginal fistula, Horseshoe kidney OMIM:619318
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Increased skull ossification ORPHA:85179
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankles, Atresia of... ORPHA:2010
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Microgna... ORPHA:949
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Fanconi Anemia, Complementation Group D2
Annular pancreas, Micropenis, Renal agenesis, Hypergonadotropic hypogonadism, Tracheoesophageal f... OMIM:227646
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Cryptorchidism, Hydronephrosis OMIM:613001
Metatropic Dysplasia
Narrow chest, Joint stiffness, Kyphosis, Camptodactyly of finger, Scoliosis, Abnormal form of the... ORPHA:2635
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Decreased ser... OMIM:619476
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:601186
Distal Trisomy 15Q
High palate, Anal atresia, Cryptorchidism, Abnormality of female external genitalia ORPHA:1707
Phosphoribosylaminoimidazole Carboxylase Deficiency
Tracheoesophageal fistula, Esophageal atresia OMIM:619859
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Abnormal digit morphology, Spina bifida occulta OMIM:268850
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Spina bifida oc... OMIM:169550
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear OMIM:615706
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Gastroesophageal reflux, Morphological abnormality of the gastrointe... ORPHA:1834
Townes-Brocks Syndrome 2
Anal atresia, Hypospadias, Bifid uterus, Crossed fused renal ectopia, Spina bifida occulta, Recto... OMIM:617466
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... ORPHA:2538
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus OMIM:125700
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation ORPHA:115
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Spinal cord compression ORPHA:85168
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Talipes equinovarus, Increased intervertebral space, Bifid humerus, Horizon... OMIM:256050
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Short neck, Scoliosis, Spina bifida occulta,... OMIM:193700
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Microretrognathia, Small hand, Brachydactyly, Spina bifida occult... ORPHA:1786
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Familial Expansile Osteolysis
Conductive hearing impairment, Bone pain, Osteolysis, Pathologic fracture OMIM:174810
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Mosaic Trisomy 14
High palate, Ectopic anus, Hypoplasia of penis, Cleft palate, Hypospadias, Cryptorchidism ORPHA:1703
Alagille Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Peripheral pulmonary artery stenos... ORPHA:52
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Reduced bone mineral density, Campt... ORPHA:1488
Isolated Exencephaly
Posterior pituitary agenesis, Maternal diabetes, Anterior pituitary hypoplasia, Holoprosencephaly ORPHA:563612
Colonic Atresia
Colonic atresia OMIM:303650
Distal Monosomy 13Q
Anal atresia, Renal hypoplasia/aplasia, Anencephaly, Ambiguous genitalia, Encephalocele ORPHA:1590
Anaplastic Thyroid Carcinoma
Dysphagia, Tracheoesophageal fistula, Laryngotracheal stenosis ORPHA:142
Global Developmental Delay With Speech And Behavioral Abnormalities
Anal atresia, Cryptorchidism, Precocious puberty, Supernumerary nipple OMIM:619243
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Hydrocephalus, Holoprosencephaly, Abnormal lung lobation, Postaxial hand polydactyly, Spina bifida ORPHA:945
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Knee flexion cont... OMIM:600175
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax ORPHA:93304
Infantile Myofibromatosis
Intestinal obstruction, Tracheoesophageal fistula, Abnormal intestine morphology ORPHA:2591
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Joint laxity, Thoracolumbar kyphosis OMIM:236660
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, High palate, Ectopic anus, Renal hypoplasia/aplasia, Anal atresia, Clef... ORPHA:2473
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Low-set ears, Posteriorly rotated ears OMIM:300864
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastroesophageal reflux, Abnormal esophagus morphology, Esophageal stricture, Esophageal stenosis... ORPHA:89842
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
High palate, Supernumerary nipple, Micropenis, Hydronephrosis, Anteriorly placed anus, Pelvic kid... OMIM:618653
Exstrophy-Epispadias Complex
Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Horseshoe kidney, Bladder duplication... ORPHA:322
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia OMIM:248390
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Facial diplegia, Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atr... OMIM:122860
Acces Syndrome
Tracheoesophageal fistula OMIM:619959
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Jo... OMIM:157800
Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
Distal urethral duplication, High, narrow palate OMIM:277465
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Feingold Syndrome
Duodenal atresia, Esophageal atresia ORPHA:1305
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Septo-Optic Dysplasia Spectrum
Tracheoesophageal fistula, Esophageal atresia, Cleft palate ORPHA:3157
Feingold Syndrome 2
Intestinal atresia OMIM:614326
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Dyrk1A-Related Intellectual Disability Syndrome
Duodenal atresia, Gastroesophageal reflux, Micropenis, Unilateral renal agenesis, Hypospadias, Py... ORPHA:464306
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Periventricular Nodular Heterotopia 7
Cryptorchidism, Cleft palate OMIM:617201
3Mc Syndrome 1
Wide anterior fontanel, Clinodactyly of the 5th finger, Short 5th finger, Spina bifida occulta, R... OMIM:257920
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Duodenal atresia, Gastroesophageal reflux, Micropenis, Unilateral renal agenesis, Hypospadias, Po... ORPHA:464311
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy, Generalized osteopor... OMIM:277950
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Congenital hypothyroidism, Pancreatic hypoplasia, Pancreatic a... ORPHA:2255
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Abnormal intestine morphology, Cleft palate, Sirenomelia ORPHA:1848
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Renal Agenesis
Anal atresia, Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism OMIM:309585
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... OMIM:602196
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, Micrognathia, Scoliosis, Delayed eruption of teeth, Spina bifida occulta, Hyperlord... ORPHA:2780
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... OMIM:615220
Bladder Exstrophy
Abnormality of the anus, Abnormality of the clitoris, Hypoplasia of penis, Intestinal malrotation... ORPHA:93930
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Anteriorly placed an... OMIM:600057
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Decreased re... ORPHA:226307
Image Syndrome
Hypospadias, Cryptorchidism, Hydronephrosis, Hypogonadism ORPHA:85173
Metatropic Dysplasia
Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... OMIM:156530
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Non-Syndromic Anorectal Malformation
Myelomeningocele, Anal atresia, Ectopic anus, Rectal fistula, Hypospadias, Persistent cloaca, Rec... ORPHA:557
Chromosome 18P Deletion Syndrome
High palate, Micropenis, Gonadal dysgenesis, Decreased testicular size, Cryptorchidism OMIM:146390
Acromelic Frontonasal Dysplasia
Encephalocele, Hypopituitarism, Meningocele, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:1827
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
46,Xy Sex Reversal 4
High palate, Sex reversal, Anal atresia, Hypoplasia of the uterus, Cleft palate, Hypergonadotropi... OMIM:154230
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment OMIM:610738
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta ORPHA:1185
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Renpenning Syndrome
Anal atresia, High, narrow palate, Cleft palate, Hypospadias, Decreased testicular size ORPHA:3242
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Anomalous pulmonary venous return,... ORPHA:1120
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism OMIM:261550
Lymphatic Malformation 2
Lymphedema OMIM:611944
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Conductive hearing impairment, Recurrent fractures, Multiple rib fractures, Osteope... OMIM:616229
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Talipes equinovarus, Retrognathia, Small hand, Scoliosis, Delayed eruption of teeth, ... OMIM:235510
Miller-Dieker Lissencephaly Syndrome
Pelvic kidney, Cryptorchidism, Duodenal atresia, Cleft palate OMIM:247200
Holoprosencephaly 2
Alobar holoprosencephaly, Holoprosencephaly, Adrenal hypoplasia, Semilobar holoprosencephaly, Ant... OMIM:157170
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... OMIM:184100
Caudal Duplication
Myelomeningocele, Renal hypoplasia/aplasia, Abnormal penis morphology, Uterus didelphys, Ureteral... ORPHA:1756
Cleft Velum
Conductive hearing impairment, Recurrent otitis media ORPHA:99772
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Joint contracture of the 5th finger, Microtia OMIM:248910
Mirage Syndrome
Esophageal stricture, Achalasia, Hydrocephalus, Gastroesophageal reflux OMIM:617053
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Conductive hearing impairment, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia ORPHA:1918
Penile Agenesis
Anal atresia, Urethral atresia, male, Rectal fistula, Urethral fistula, Cryptorchidism, Tracheoes... ORPHA:49
Spondyloepiphyseal Dysplasia, Stanescu Type
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Platyspondyly, Stiff neck OMIM:616583
Bowen-Conradi Syndrome
Cryptorchidism ORPHA:1270
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... OMIM:313420
3Q13 Microdeletion Syndrome
Abnormality of the urinary system, Cryptorchidism, Hypoplasia of penis ORPHA:1621
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Ambiguous genitalia OMIM:618142
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Camptodactyly of finger, Abnormality of the ankles, Synostosis of ... ORPHA:1836
Apert Syndrome
Ectopic anus, Hydrocephalus, Narrow palate, Cleft palate, Bifid uvula, Esophageal atresia ORPHA:87
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter OMIM:255900
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Hypogonadism, Decreased testicular size, Micropenis OMIM:616030
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment OMIM:221200
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Trisomy 18
Anal atresia, Narrow palate, Cleft palate, Holoprosencephaly, Anencephaly, Spina bifida, Esophage... ORPHA:3380
Thakker-Donnai Syndrome
Tracheoesophageal fistula, Anal atresia, Rectovaginal fistula, Communicating hydrocephalus ORPHA:1780
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Osteopetrosis, Abnormal cranial ... ORPHA:1522
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypoparathyroidis... ORPHA:227982
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morpho... ORPHA:468631
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
15Q24 Microdeletion Syndrome
Myelomeningocele, Anal atresia, Decreased response to growth hormone stimulation test, Intestinal... ORPHA:94065
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Distal Monosomy 10Q
2-3 toe cutaneous syndactyly, Lumbar hyperlordosis, Clinodactyly of the 5th finger, Prominent fin... ORPHA:96148
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Opitz Gbbb Syndrome
High palate, Anal atresia, Gastroesophageal reflux, Cryptorchidism, Cleft palate, Micropenis, Hyp... OMIM:300000
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... OMIM:617641
Smith-Magenis Syndrome
Abnormality of the outer ear, Hearing impairment, EEG abnormality, Morphological abnormality of t... OMIM:182290
Alacrima, Achalasia, And Mental Retardation Syndrome
Dysphagia, Achalasia, Esophageal stenosis OMIM:615510
Fanconi Anemia, Complementation Group L
Anal atresia, Hydrocephalus, Cleft palate, Tracheoesophageal fistula, Esophageal atresia OMIM:614083
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... ORPHA:2704
Phaver Syndrome
Conductive hearing impairment, Joint stiffness, Overfolded helix, Camptodactyly of finger, Radiou... ORPHA:2876
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate ORPHA:376
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Unilateral cryptorchidism, Testicular mass, Bilatera... ORPHA:457083
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Gastroesophageal reflux ORPHA:250994
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Blind vagina, Micropenis, Bifid scrotum, Glandular hypospadias, Penile hypospadias, ... ORPHA:456328
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia OMIM:613717
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Otosclerosis, Reduced bone mineral density, Bowing of limbs due to multiple ... OMIM:166220
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Po... OMIM:236700
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
Isolated Hemihyperplasia
Myelomeningocele, Cryptorchidism, Nephroblastoma ORPHA:2128
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormality of the kidney, Hypoplasia of the vagina, Horseshoe kidney,... ORPHA:3109
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Anal atresia, Gastroesophageal reflux, Abnormal renal morphology, Cryptorchidism OMIM:613792
Penoscrotal Transposition
Abnormal external genitalia, Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality ... ORPHA:2842
Fanconi Anemia, Complementation Group R
Anal atresia OMIM:617244
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Low-set ears, Abnormal clavicle morphology, Chronic otitis media ORPHA:276422
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Aplasia/Hypoplasia involving bones of the thorax, Bilateral tali... ORPHA:2369
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Platyspondyly... OMIM:618395
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Scoliosis, Pectus carinatum, Delayed skeletal maturation ORPHA:1548
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
Beta-Ureidopropionase Deficiency
Anal atresia, Bladder exstrophy, Bifid scrotum OMIM:613161
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Micrognathia, Camptodactyly of finger, Scoliosis, Symphalangism af... ORPHA:2990
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... OMIM:609052
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Tracheoesophageal fistula ORPHA:3068
Larsen Syndrome
Beaking of vertebral bodies, Short metatarsal, Talipes equinovarus, Accessory carpal bones, Short... OMIM:150250
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Genu valgum OMIM:132450
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Oral leukoplakia OMIM:224230
Trisomy 1Q
Anal atresia, Cleft palate, Congenital megaureter, Multicystic kidney dysplasia, Ambiguous genita... ORPHA:261344
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Cleft palate, Micropenis, Hypospadias, Urethral stricture, Clitoral hy... OMIM:617063
Dubowitz Syndrome
Hydrocephalus, Wide anterior fontanel, Clinodactyly of the 5th finger, Abnormality of thumb phala... ORPHA:235
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Scoliosis, Syndactyl... OMIM:607323
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Pectus excavatum OMIM:609384
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Pectus carinatum, Radioulnar synostosis OMIM:614701
Van Esch-O'Driscoll Syndrome
Tracheoesophageal fistula, Esophageal atresia, Bifid uvula, Spina bifida occulta OMIM:301030
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Retrognathia, Small hand, Short neck, Broad femoral neck, Spina bifid... ORPHA:488434
Autoimmune Polyendocrinopathy Type 4
Thymoma, Hypergonadotropic hypogonadism, Xerostomia, Type I diabetes mellitus, Central diabetes i... ORPHA:227990
Seckel Syndrome 8
Ectopic kidney OMIM:615807
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Anal atresia, Velopharyngeal insufficiency, Micropenis, Unilateral renal agenesis, Abnormality of... ORPHA:363444
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Kindler Syndrome
Dysphagia, Oral leukoplakia, Anal stenosis, Esophageal stenosis OMIM:173650
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Scoliosis, Clinodactyly, Spina bifida occulta, Camptodactyly