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Gene: Vangl2 MGI:2135272

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Gene Summary

Name:
VANGL planar cell polarity 2
Synonyms:
skam17Jus,  Lpp1,  Lootl,  C530001F03Rik,  loop-tail,  strabismus,  ska17,  Ltap

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
increased circulating glucose level Vangl2Lp HET Early adult 9.36×10-05
abnormal craniofacial morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
decreased circulating phosphate level Vangl2em1(IMPC)Mbp HET Early adult 7.68×10-06
abnormal placenta morphology Vangl2em1(IMPC)Mbp HET E15.5 0.00
embryonic growth retardation Vangl2em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Vangl2em1(IMPC)Mbp HET Early adult 1.67×10-08
cleft palate Vangl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal tail morphology Vangl2em1(IMPC)Mbp HOM E15.5 0.00
abnormal head shape Vangl2em1(IMPC)Mbp HOM E15.5 0.00
curly tail Vangl2Lp HET Early adult 4.80×10-07
abnormal snout morphology Vangl2Lp HET Early adult 5.08×10-07
exencephaly Vangl2em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Vangl2em1(IMPC)Mbp HOM   Early adult 0.00
decreased circulating HDL cholesterol level Vangl2Lp HET Early adult 2.88×10-05
abnormal retina morphology Vangl2em1(IMPC)Mbp HET Early adult 1.59×10-05
microphthalmia Vangl2em1(IMPC)Mbp HET E15.5 0.00
kinked tail Vangl2Lp HET Early adult 3.56×10-13
decreased circulating cholesterol level Vangl2Lp HET Early adult 5.94×10-11
abnormal tail movements Vangl2Lp HET Early adult 3.71×10-06

Download data as:  TSV  XLS

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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

39 Images

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Gross Morphology Embryo E14.5-E15.5

Images

19 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Vangl2 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 associated to Vangl2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Isolated Anencephaly
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Isolated Exencephaly
Depressed nasal bridge, Holoprosencephaly, Low-set ears ORPHA:563612

The table below shows human diseases predicted to be associated to Vangl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Nanophthalmos 2
Microphthalmia OMIM:609549
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Transposition of the great arteries, Low-set ears, ... OMIM:231060
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Polyhydramnios, Short neck, Fetal akinesia sequence, High, narrow palate, Cong... OMIM:208150
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal in... ORPHA:2311
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abno... ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Limb Body Wall Complex
Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia... ORPHA:2369
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb,... ORPHA:93267
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Missing r... OMIM:613686
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Co... ORPHA:1988
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Abnormal rib morphology, Anteriorly placed ... ORPHA:280195
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Rib ... ORPHA:1394
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the ear, Interrupted aortic arch, Pulmonary artery atre... OMIM:192430
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Polyhydramnios, Flexion contracture, Premature rupture of ... OMIM:275210
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Premature birth, Delayed skeletal maturation, Abnormality of the elbow, Abnorm... ORPHA:3268
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Missing ribs, Proximal placement of ... OMIM:304050
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Decreased fetal movement, Elbow extension contracture, Polyhydramnios, A... OMIM:616503
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Hearing impairment, Situs inversus totalis OMIM:617577
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... OMIM:228520
You-Hoover-Fong Syndrome
Coarctation of aorta, Hearing impairment, Double aortic arch, Vascular ring OMIM:616954
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Skraban-Deardorff Syndrome
Right aortic arch, Recurrent otitis media, Ventricular septal defect OMIM:617616
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Neu-Laxova Syndrome 1
Polyhydramnios, Short neck, Fetal akinesia sequence, Calcaneovalgus deformity, Neonatal death, Pt... OMIM:256520
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... ORPHA:166024
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Partial agenes... ORPHA:50
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Premature birth, Congenital diaphragmatic hernia, Missing r... ORPHA:1834
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of... OMIM:604213
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Glossoptosis, Vertebral... OMIM:611209
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ... ORPHA:1662
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Symphalangism affecting the phalanges of the hand, Abnormal sternum morphology... ORPHA:2990
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Hemivertebrae, High palate, ... OMIM:213980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Vascular ring OMIM:603387
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Hearing impairment ORPHA:1705
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... OMIM:265000
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed eruption of teeth, Inguinal hernia,... ORPHA:915
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... ORPHA:887
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Mesomelia-Synostoses Syndrome
Progressive forearm bowing, Hearing impairment, Polyhydramnios, Short metatarsal, Absent uvula, T... OMIM:600383
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Melnick-Needles Syndrome
Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epiphyses of the ... ORPHA:2484
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing... ORPHA:2635
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility OMIM:619949
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst... OMIM:620317
Isolated Dandy-Walker Malformation
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia ORPHA:217
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder... OMIM:618709
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Triploidy
Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Intestinal malrotation, Polyhy... ORPHA:3376
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph... ORPHA:2306
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... OMIM:156530
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Phaver Syndrome
Ventricular septal defect, Posteriorly rotated ears, Conductive hearing impairment, Myelomeningoc... ORPHA:2876
Lateral Meningocele Syndrome
Short neck, Chiari type I malformation, High palate, Conductive hearing impairment, Vertebral fus... OMIM:130720
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow ches... OMIM:269860
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... ORPHA:3035
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Omphalocele, Posteriorly rotated ears, Postaxial hand polydactyl... OMIM:264480
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia OMIM:605231
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of... OMIM:617914
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Hearing abnormality, Wide... ORPHA:2021
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Conductive hearing im... OMIM:201000
Trisomy 1Q
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Congenital ... ORPHA:261344
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Missing ribs, Cryptorchidism, Hydrocephalus, Optic atrophy, Abnormal rib m... ORPHA:3301
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... OMIM:312150
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Scoliosis ORPHA:2128
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Abnormal sho... ORPHA:157941
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... ORPHA:2790
Acalvaria
Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencep... ORPHA:945
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Holo... OMIM:601357
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Molar tooth s... OMIM:616300
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia ... OMIM:253290
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Long clavicles, Premature birth, Diastasis recti, Kyphoscoliosis, C... OMIM:608149
Pseudodiastrophic Dysplasia
Omphalocele, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis ORPHA:85174
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Gombo Syndrome
Microphthalmia OMIM:233270
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dyspha... OMIM:207950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
Apert Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Es... ORPHA:87
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia striata, Craniofacial osteos... OMIM:300373
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Pyloric stenosis, Sensorineural hearing impair... ORPHA:261197
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Inguinal hernia, Enlarged joints, Tapered finger, Pectus excavatum, Short n... OMIM:607131
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Pulmonic... OMIM:220210
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Celiac disease, Dysp... ORPHA:544488
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Impaired vibration sensation in the lower limbs, Limb ataxia, Impai... ORPHA:251282
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Pontine Tegmental Cap Dysplasia
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosi... OMIM:614688
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Joint stiffne... ORPHA:1707
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... OMIM:311300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme... OMIM:618845
Caudal Duplication
Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Uterus didelphys, Spin... ORPHA:1756
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Protruding ear, Reduced bone mineral dens... ORPHA:93315
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... OMIM:602588
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Holoprosencephaly, ... ORPHA:1445
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... OMIM:617992
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Symphalangism affec... ORPHA:628
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... ORPHA:2092
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Omphalocele, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Intestinal m... OMIM:618316
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... ORPHA:397715
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... ORPHA:957
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Cleft palate ORPHA:2015
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Kyphoscoliosis, Coxa valga, Short... ORPHA:254519
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Fetal akinesia sequ... OMIM:617022
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Pulmonary hypoplasia OMIM:241800
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Macrotia, Protruding ear, Recurrent otitis media, Pul... ORPHA:3304
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Myelomeningocele, Hydrocephalus, Macro... ORPHA:1914
Meckel Syndrome 12
Rocker bottom foot, Microcephaly, Hypoplasia of the uterus, Low-set ears, Agenesis of corpus call... OMIM:616258
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Eyelid colob... ORPHA:1104
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, High palate, Clinodactyly of the ... ORPHA:96148
Atelosteogenesis, Type I
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neon... OMIM:108720
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia ORPHA:71518
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chro... ORPHA:1507
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Ataxia, Inability to walk, Dysplastic corpus callosum ORPHA:599373
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Pulmonic stenosis,... OMIM:179613
Heart Defects-Limb Shortening Syndrome
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... ORPHA:1354
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hydrocephalus, Low-set ears, Atria... OMIM:614846
Linear Verrucous Nevus Syndrome
Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea, Hypophosphatemia ORPHA:2611
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... OMIM:118100
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... OMIM:602535
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... ORPHA:1488
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Abnormality of the vertebral column OMIM:602475
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed skeletal maturation, Abnormal rib m... ORPHA:2475
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormal ear morphology, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly, C... OMIM:618010
Mosaic Trisomy 1
Thoracic scoliosis, Cerebellar vermis hypoplasia, Polyhydramnios, Congenital diaphragmatic hernia... ORPHA:1692
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa vara, Platys... OMIM:602271
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... ORPHA:163966
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal th... ORPHA:1120
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Pectu... OMIM:609223
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Optic atrophy, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Thickened nuchal skin fold, Posteriorly rotated ears, Polyhydramnios, Short neck, Co... OMIM:263210
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Trisomy 18
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Low-set, posteriorly r... ORPHA:3380
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cere... OMIM:614815
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Diastasis recti, Polyhydra... ORPHA:254528
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypo... ORPHA:96334
Schneckenbecken Dysplasia
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... OMIM:269250
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Arachnodactyly, Rocker bottom foot, Hydrocephalus, Ulnar bowing, Humer... OMIM:207410
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Sprengel anomaly,... OMIM:601389
Donnai-Barrow Syndrome
Omphalocele, Posteriorly rotated ears, Intestinal malrotation, Congenital diaphragmatic hernia, W... OMIM:222448
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypop... OMIM:617895
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Verheij Syndrome
Branchial cyst, Vertebral fusion, Joint laxity, Optic nerve hypoplasia, Short neck, Hip dislocati... OMIM:615583
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Abnormal pinna morphology, Post... OMIM:614175
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Thanatophoric Dysplasia Type 2
Encephalocele, Hearing impairment, Polyhydramnios, Kyphosis, Hydrocephalus, Short thorax, Increas... ORPHA:93274
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia OMIM:615989
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Aplasia of the ovary OMIM:614324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... ORPHA:2522
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Sensorineural hearing impairm... ORPHA:2326
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... OMIM:156550
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital hip dislocation, Polyhydramnios, Short neck, Accelerated skeletal... ORPHA:373
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... OMIM:271520
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Syndactyly, Mesoaxial f... OMIM:146510
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Thanatophoric Dysplasia, Type I
Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm... OMIM:187600
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment, Mesoaxial hand polydactyly, Pectus car... OMIM:618763
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Short neck, Metaphyseal wideni... OMIM:255800
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib morphology, Hemiverteb... ORPHA:2180
Double Outlet Right Ventricle
Ventricular septal defect, Abnormality of cartilage of external ear, Double outlet right ventricl... ORPHA:3426
Apert Syndrome
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Chronic otitis media, Broad distal ... OMIM:101200
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... ORPHA:280
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hear... OMIM:218600
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Masa Syndrome
Camptodactyly of finger, Gait disturbance, Clinodactyly of the 5th finger, Agenesis of corpus cal... ORPHA:2466
Waardenburg Syndrome Type 1
Ptosis, Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Spina bifida, Congeni... ORPHA:894
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysph... OMIM:617862
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal pinna morphology, De... ORPHA:477817
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Iniencephaly
Encephalocele, Omphalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Polyhydramnios, Cong... ORPHA:63259
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Diastasis recti, Polyhydramnios, Large placenta, Coat hanger sign of ribs, Umbilical... ORPHA:254534
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno... ORPHA:1110
Nanophthalmos 4
Microphthalmia OMIM:615972
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Beaded ribs, Short neck, Multiple prenatal fractures, Flexion contrac... OMIM:616897
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dysplastic corpus callosum, Ataxia, Microcephaly OMIM:618276
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Thanatophoric Dysplasia, Type Ii
Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wid... OMIM:187601
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Pate... OMIM:619657
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Conductive hearing impairment, Thickened helices, Clinodactyly of the 5th finger, Ag... OMIM:607872
Kbg Syndrome
Syndactyly, Vertebral fusion, Posteriorly rotated ears, Short neck, Delayed skeletal maturation, ... OMIM:148050
Nanophthalmos
Microphthalmia ORPHA:35612
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... OMIM:183900
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism ORPHA:1114
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... OMIM:184250
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Papilledema, Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involvin... ORPHA:371428
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Aplastic clavicle, Postaxial polydactyly, Short neck, Polyhydramnio... OMIM:616546
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... ORPHA:1703
Thanatophoric Dysplasia
Hearing impairment, Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint morphology, Hydroc... ORPHA:2655
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Cleidocranial Dysplasia, Recessive Form
Severe short stature, Brachycephaly OMIM:216330
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... ORPHA:90650
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Epicanthus, Telecanthus, Spina bifida, Highl... ORPHA:1327
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot,... ORPHA:1926
Alg3-Cdg
Abnormal pinna morphology, Coarctation of the descending aortic arch, Cardiomyopathy, Neural tube... ORPHA:79321
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Diprosopus
External ear malformation, Anencephaly, Cleft palate, Abnormality of the nose ORPHA:1681
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Coarctati... OMIM:618164
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Cleft palate, Fused cerv... OMIM:214300
Pyle Disease
Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary teeth, Abnormal thorax m... OMIM:265900
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Scapular winging, Congenital hip dislocation, Toe syndactyly, Sandal gap, Lumbar hyp... OMIM:609625
Slc35A2-Cdg
Thickened nuchal skin fold, Osteopenia, Cerebellar atrophy, Limb joint contracture, Camptodactyly... ORPHA:356961
22Q11.2 Duplication Syndrome
Ventricular septal defect, Anterior creases of earlobe, Hypoplastic left heart, Transposition of ... ORPHA:1727
Achondrogenesis Type 1B
Thickened nuchal skin fold, Femoral hernia, Polyhydramnios, Short neck, Abnormal enchondral ossif... ORPHA:93298
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Miller-Dieker Syndrome
Clinodactyly of the 5th finger, Sacral dimple, Omphalocele, Polyhydramnios ORPHA:531
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Cog1-Cdg
Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Osteopenia, Cerebellar vermi... ORPHA:263508
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia, Bilateral cleft lip and palate OMIM:600776
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Asymmetric septa... OMIM:252900
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impai... OMIM:150250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... OMIM:171480
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Short humerus, Nuchal cord, Short femur, Tapered finger, Lateral ventricle di... OMIM:618367
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... OMIM:253220
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia OMIM:612284
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Posteriorly rotated ears, Kyphosis, Pectus carinatum, Reduced bone mineral densi... OMIM:618392
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Posteriorly rotated ears, Polyhydramnios, Missing ribs, Premature birth, Aplasia/... ORPHA:2759
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Conductive hearing impairment,... ORPHA:1513
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
1P36 Deletion Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Abnor... ORPHA:1606
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Abnormal tibia morphology, Split han... ORPHA:1335
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Pulmonary hypoplasia OMIM:236500
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphosis, A... OMIM:606612
Osteogenesis Imperfecta, Type Xiii
Femoral bowing, Pectus carinatum, Enlarged thorax, Protruding ear, Reduced bone mineral density, ... OMIM:614856
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Attention defi... OMIM:608716
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Humeroradial s... OMIM:134780
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Hydrocephalus, Optic atrophy,... OMIM:619470
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Cone-shaped epiphyses of t... OMIM:309350
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Hydrocephalus, Anoma... ORPHA:244
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased inte... OMIM:256050
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Thickened nuchal skin fold, Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, ... ORPHA:2916
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... OMIM:608940
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... ORPHA:1801
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Abnormal rib mo... ORPHA:93351
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Pelvis-Shoulder Dysplasia
Waddling gait, Syndactyly, Ambiguous genitalia, Aplasia/Hypoplasia of the ribs, Abnormal pinna mo... ORPHA:2839
Trigonocephaly 1
Omphalocele, Craniosynostosis, High, narrow palate, Lumbar hemivertebrae, Metopic synostosis, Mec... OMIM:190440
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Delayed epiphyseal ossification, Narrow chest, Death in childhood, Dysplastic sacrum,... OMIM:613320
Greenberg Dysplasia
Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral densit... OMIM:215140
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... ORPHA:99642
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Tetralogy of Fallot, Protruding ear, Abnormal aortic morphology, Abnor... ORPHA:1166
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Hydranencephaly, Holoprosencephaly, Abnormal pleura morphology ORPHA:2570
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Conductive he... ORPHA:3082
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm ORPHA:168555
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Wildervanck Syndrome
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... ORPHA:3456
Donnai-Barrow Syndrome
Omphalocele, Posteriorly rotated ears, Intestinal malrotation, Congenital diaphragmatic hernia, W... ORPHA:2143
Intellectual Developmental Disorder, Autosomal Recessive 73
Posteriorly rotated ears, Patent ductus arteriosus, Ventricular septal defect, Low-set ears OMIM:619717
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Esophageal atresia, ... OMIM:206900
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly ro... OMIM:211750
Agnathia-Otocephaly Complex
Holoprosencephaly, Pulmonary hypoplasia OMIM:202650
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Conductive hearing impairment, Joint laxity, De... OMIM:157800
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Mixed hearing impairment, Posteriorly rotate... ORPHA:97360
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Accelerated skeletal maturation, Irregular vertebral endplates, Knee dislocation, High palate, Am... OMIM:618363
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Pulmonary hypoplasia ORPHA:250999
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Bardet-Biedl Syndrome 1
Syndactyly, Brachydactyly, Aganglionic megacolon, Ataxia, Postaxial polydactyly, Postaxial hand p... OMIM:209900
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... OMIM:300624
Anencephaly 2
Anencephaly, Bifid nose, Median cleft palate OMIM:619452
Joubert Syndrome With Ocular Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... ORPHA:220493
3Mc Syndrome 1
Omphalocele, Conjunctival telangiectasia, Sacral dimple, Single interphalangeal crease of fifth f... OMIM:257920
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... OMIM:616652
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ... OMIM:305620
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Microcephaly, Chorea, Falls, Inappropriate laughter, Bruxism, Abnorm... OMIM:619150
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... OMIM:259440
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Sprengel anomaly, Conductive hear... ORPHA:1826
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Missing ribs ORPHA:1759
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Achondroplasia
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... OMIM:100800
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Zttk Syndrome
Flexion contracture, Hemivertebrae, Protruding ear, High palate, Bifid uvula, Rib fusion, Low-set... OMIM:617140
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Parietal Foramina 1
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
17Q21.31 Microduplication Syndrome
High palate, Short nose, Anteverted nares ORPHA:217340
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Intrauterine gro... ORPHA:1832
Achondrogenesis Type 1A
Thickened nuchal skin fold, Multiple rib fractures, Femoral hernia, Recurrent fractures, Polyhydr... ORPHA:93299
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Hypoplasia of the pons, Thin ribs, Platyspondyly, Bowing of limbs due to mul... OMIM:615220
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty... ORPHA:1452
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Depressed nasal ridge, Cleft palate, Low-set ears, Short ... OMIM:613885
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f... OMIM:609324
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Conductive hearing impairment, Intrauterine growth retarda... OMIM:194190
Charge Syndrome
Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the ... ORPHA:138
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Hearing impairment ORPHA:251076
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia, Spina bifida occulta ORPHA:2437
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Death in infancy, Hydrocephalus, Cleft palate, Bifid uvula OMIM:258320
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabul... OMIM:151210
Achondrogenesis, Type Ib
Inguinal hernia, Polyhydramnios, Hypoplastic ilia, Breech presentation, Hydrops fetalis, Stillbir... OMIM:600972
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Postnatal growth retardation, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper l... OMIM:309545
Developmental And Epileptic Encephalopathy 89
Omphalocele, Cerebellar atrophy, Asymmetry of the ears, Flexion contracture, Cleft palate, Death ... OMIM:619124
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... ORPHA:2257
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Masa Syndrome
Microcephaly, Hydrocephalus, Shuffling gait, Agenesis of corpus callosum, Ventriculomegaly, Adduc... OMIM:303350
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteoscl... OMIM:122860
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Umbilical hernia, Ventricular septal defect ORPHA:1918
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... ORPHA:3186
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Pulmonary hypoplasia OMIM:224410
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Cartilage-Hair Hypoplasia
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Heart block, Abnormal ... ORPHA:175
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Low-set ears ORPHA:1919
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... ORPHA:582
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... ORPHA:980
Pericardial And Diaphragmatic Defect
Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short nose, Spina bifida occulta ORPHA:1514
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis, Bra... ORPHA:377
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck, Hearing impairment ORPHA:2578
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Odontochondrodysplasia 1
Genu recurvatum, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, G... OMIM:184260
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Chiar... OMIM:182212
Duplication Of The Pituitary Gland
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Abnormal midbrain morpho... ORPHA:314621
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Abnormal rib morphology, Joint hyperflexi... ORPHA:2772
Joubert Syndrome With Renal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... ORPHA:220497
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Intestinal malr... OMIM:258040
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Abnormality of the uterus, Low-set ears, Abnormal fal... ORPHA:1655
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebral wedging, Pla... OMIM:616583
Rhiny
Short nose, Anteverted nares OMIM:180360
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, Holoprosencep... ORPHA:2162
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened nuchal skin fold, Thickened helices, Pectus excavatu... ORPHA:648
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Generalized joint laxity... OMIM:600373
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Joubert Syndrome 7
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... OMIM:611560
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Hydrocephalus, High palate, Short nose, Macrotia OMIM:300558
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Thrombocytopenia-Absent Radius Syndrome
Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotated ears, Finger... ORPHA:3320
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Pectus excavatum, Kyphosis, ... ORPHA:96169
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Supernumera... ORPHA:2958
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... OMIM:600325
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Pulmonary hypoplasia OMIM:313850
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpu... OMIM:249000
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... ORPHA:3027
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Recurrent frac... OMIM:166210
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal pinna morphology, Abnormal heart morphology, Coarctation of a... ORPHA:261183
Ogden Syndrome
Abnormal head movements, Broad hallux, Cryptorchidism, Cerebral atrophy, Shuffling gait, Low-set ... ORPHA:276432
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ear... OMIM:612946
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Sensorineural hearing impairment, ... ORPHA:314588
Chromosome 9P Deletion Syndrome
Long toe, Omphalocele, Inguinal hernia, Sandal gap, Posteriorly rotated ears, Hallux varus, Taper... OMIM:158170
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate OMIM:300577
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Cere... ORPHA:157946
Gómez-López-Hernández Syndrome
Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Thin vermilion border, Midface retrusion ORPHA:1532
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, 2-3 toe syndactyly, Abnormal cerebral white matter m... OMIM:613443
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:1046
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hy... ORPHA:171680
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Delayed skeletal maturation, Clinodactyly of the 2nd finger, Hypoplasi... ORPHA:251061
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Hydrocepha... ORPHA:163961
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Short thorax, Abnormal carpal mor... ORPHA:85166
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Congenital ... OMIM:618454
Fryns Syndrome
Proximal placement of thumb, Short neck, Polyhydramnios, Prominent fingertip pads, Broad ribs, Ag... OMIM:229850
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Stiff neck, Myelopathy, Vertigo, Cranial nerve compressi... ORPHA:268882
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Constricting Bands, Congenital
Encephalocele, Syndactyly, Omphalocele, Cleft palate, Abnormal rib cage morphology, Hand polydact... OMIM:217100
Aminopterin/Methotrexate Embryofetopathy
Low-set, posteriorly rotated ears, Encephalocele, Ventricular septal defect, Situs inversus total... ORPHA:1908
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing im... OMIM:277170
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Delayed skeletal maturation, ... OMIM:614450
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Joubert Syndrome With Oculorenal Defect
Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Aganglionic megac... ORPHA:2318
Fryns Syndrome
Low-set, posteriorly rotated ears, Omphalocele, Thickened nuchal skin fold, Aganglionic megacolon... ORPHA:2059
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar ver... OMIM:614424
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Sensorineural hearing impairment, Abnormal rib morphology, ... ORPHA:3378
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Ataxia, Leukoencephalopathy, Lateral ventricle dilatation, Progr... OMIM:615889
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... ORPHA:1856
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Short neck, ... ORPHA:2347
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral b... OMIM:619451
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... OMIM:618961
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Macroglossia, Wide anterior fontanel OMIM:275100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... OMIM:618728
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... OMIM:617974
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip and palate... ORPHA:2003
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Down-sloping shoulders, ... OMIM:227330
Koolen-De Vries Syndrome
Anteverted ears, High palate, Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge... OMIM:610443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Hydrocephalus, Optic atrophy, Diaphysea... OMIM:618476
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Bifid uvula, Low-set, posteriorly rotated ears, Mesoaxial polyd... ORPHA:672
Cantu Syndrome
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,... OMIM:239850
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Bone pain, Abnorma... ORPHA:666
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Cleft palate, Clinodactyly of the 5th finger,... OMIM:244600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Short neck, Accelerated skeletal maturation, Multipl... OMIM:245600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip... OMIM:618395
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, High palate, Short nose, Convex nasal ... ORPHA:1695
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Brachycephaly, Growth delay, High palate, Narrow mouth ORPHA:2528
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Lateral Meningocele Syndrome
Short neck, High, narrow palate, Abnormal form of the vertebral bodies, High palate, Conductive h... ORPHA:2789
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... ORPHA:2616
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short nose, Short columella, Depressed nasal bridge OMIM:155050
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
Fountain Syndrome
Epicanthus, Spina bifida, Sensorineural hearing impairment, Synophrys, Spina bifida occulta, Thic... ORPHA:3219
Joubert Syndrome 10
Low-set ears, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly OMIM:300804
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ap... ORPHA:2167
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Round ear ORPHA:1450
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Umbilical hernia ORPHA:932
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation OMIM:600252
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... ORPHA:2619
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fus... OMIM:619227
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Omphalocele, Death in infancy, Spina bifida, Congeni... ORPHA:991
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... OMIM:617127
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus,... OMIM:616294
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Sialidosis Type 2
Inguinal hernia, Kyphosis, Short thorax, Flexion contracture, Hydrops fetalis, Osteoporosis, Pect... ORPHA:87876
Arthrogryposis, Distal, Type 2A
Joint dislocation, Polyhydramnios, Short neck, Knee flexion contracture, Hypoplasia of the brains... OMIM:193700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Amish Lethal Microcephaly
Spina bifida, Microcephaly, Optic atrophy, Lissencephaly, Agenesis of corpus callosum, Ventriculo... ORPHA:99742
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Abnormal optic disc morphology, Thoraci... ORPHA:508498
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cutaneous finger syndactyly, Conductive hearing impairment, Micr... OMIM:219000
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Wormian bones, R... OMIM:616229
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Agenesis of corpus c... ORPHA:2745
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of ... ORPHA:457395
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Premature osteoarthri... OMIM:184840
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Barrel... ORPHA:94068
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hea... ORPHA:3258
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Pulmonary hypoplasia OMIM:314390
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Bowing of the legs, Short ne... OMIM:200600
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Hernia, Abnormal nerve conduction velocity, Abnormal ve... ORPHA:93473
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long bone, Hypoplastic pelvis, Spi... ORPHA:2840
Alagille Syndrome
Hypoplasia of the ulna, Telangiectasia of the skin, Delayed skeletal maturation, Abnormal rib mor... ORPHA:52
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Short toe, 2-3 toe syndactyly, ... OMIM:139210
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Hearing impairment, Polyhydramnios, Hypoplastic ilia, Abno... ORPHA:1860
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped ep... ORPHA:166272
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Posteriorly rotated ears, Cerebellar vermis hypopl... OMIM:619185
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Short neck, ... ORPHA:233
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Osteopenia, High, narrow palate, Abnormal form of the vertebral bodi... ORPHA:2462
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, H... ORPHA:93929
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon... ORPHA:163649
Joint Laxity, Short Stature, And Myopia
Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum,... OMIM:617662
Emanuel Syndrome
Congenital hip dislocation, Multiple joint contractures, Congenital diaphragmatic hernia, High pa... ORPHA:96170
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Conductive hearing im... OMIM:601076
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Trisomy 20P
Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone mineral density, ... ORPHA:261318
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b... ORPHA:2050
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cardiomyopathy, High palate, Low-set ea... OMIM:616549
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... ORPHA:488627
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears ORPHA:46
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Posterior rib fusion, Neonatal death, Nonimmune hydrops fetalis, Esophageal atres... OMIM:265380
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Interrupted ... OMIM:616920
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Monosomy 9Q22.3
Delayed eruption of teeth, Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Accelerated ske... ORPHA:77301
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Holt-Oram Syndrome
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... ORPHA:392
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, De... OMIM:602111
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Chand Syndrome
Imperforate hymen ORPHA:1401
3C Syndrome
Short neck, High, narrow palate, Hemivertebrae, Aplasia/Hypoplasia of the cerebellum, Dandy-Walke... ORPHA:7
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... OMIM:158330
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Low-set ears, Abnormal helix morp... ORPHA:1913
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn... ORPHA:261311
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Somatic sensory dysfunction, Jerky head movements, Dysphagia ORPHA:240103
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect... ORPHA:2911
Pelvis-Shoulder Dysplasia
Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il... OMIM:169550
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hyperlordosis, Delayed skelet... ORPHA:3068
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hypophosphatasia, Infantile
Death in infancy, Polyhydramnios, Bowing of the legs, Craniosynostosis, Vertebral clefting, Incre... OMIM:241500
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Cupped ear, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebra... OMIM:617159
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha... OMIM:221770
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Primary amenorrhea, L... OMIM:300068
Schwartz-Jampel Syndrome
Polyhydramnios, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, ... ORPHA:800
Gm1 Gangliosidosis Type 1
Spatulate ribs, Macrotia, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Abnorm... ORPHA:79255
Charge Syndrome
Polyhydramnios, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Hypoplasia of the ulna, Facia... OMIM:214800
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of th... ORPHA:319195
Bartsocas-Papas Syndrome 1
Short neck, Flexion contracture, Hypoplastic iliac wing, Pterygium, Short phalanx of finger, Infe... OMIM:263650
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis, Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum OMIM:608361
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Posteriorly rotated ears, Optic nerve hypoplasia, Large earlobe, Low-s... OMIM:301056
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Limited pronation/supination of forearm, Spin... ORPHA:1724
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical t... ORPHA:309282
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Ataxia, Microcephaly, Limb ataxia, Degeneration of anterior horn ... OMIM:607596
Waardenburg Syndrome, Type 1
Telecanthus, White eyelashes, White eyebrow, Spina bifida, Congenital sensorineural hearing impai... OMIM:193500
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Sirenomelia ORPHA:1848
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly, Short thorax, Abnormal epiphysis morphology ORPHA:93283
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Narrow chest, Death in c... OMIM:613848
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia, Hearing im... ORPHA:195
Adams-Oliver Syndrome 1
Encephalocele, Imperforate hymen OMIM:100300
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Tethered cord, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate ... OMIM:619522
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea... ORPHA:284169
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear, Hearing impairment OMIM:314600
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Anteriorly plac... OMIM:151050
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot... ORPHA:2031
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... ORPHA:1647
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Simple ear, Patent foramen ovale, Patent ductus arterios... OMIM:180849
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hemivertebrae, Protruding ear, Cerebellar hemisphere hypoplasia, Bifid uvula, Lumbar hyperlordosi... ORPHA:500150
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Oligohydramnios, Cleft ... ORPHA:2145
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia OMIM:617562
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Joint stiff... ORPHA:137834
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology ORPHA:3222
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Polyhydramnios, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibi... ORPHA:1427
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... ORPHA:90797
Mosaic Trisomy 8
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib mo... ORPHA:96061
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears ORPHA:276422
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pectus ... ORPHA:958
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis ORPHA:3265
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Lumbar Syndrome
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... ORPHA:83628
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Syndactyly... OMIM:607323
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Posteriorly rotated ears,... OMIM:247200
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Brachydactyly, Inguinal hernia, Short neck, Hyperlordosis, Short thorax, Abnormal form of the ver... ORPHA:3218
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Hypoplastic pubic bone, Flared me... ORPHA:93346
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements, Microcephaly OMIM:245348
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short p... OMIM:611717
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Low-set ears OMIM:618330
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:616034
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpu... OMIM:619737
Renpenning Syndrome
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Sensorineural hearing impairment, H... ORPHA:3242
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Cystinosis
Hypokalemia, Retinopathy, Hypophosphatemia ORPHA:213
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... ORPHA:2097
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... OMIM:313400
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Omphalocele
Omphalocele, Premature birth ORPHA:660
Scarf Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck... ORPHA:3134
Anauxetic Dysplasia 1
Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi... OMIM:607095
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p... OMIM:113650
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Abnormal midbrain morphology, Tapered finger, Hypoplasia... ORPHA:444072
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Atrial septal defect, Patent f... OMIM:619189
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology... OMIM:274000
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Posteriorly rotated ears, Diastasis recti, Bifid distal phalanx of the thumb, Pylori... OMIM:618419
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Pulmonary hypoplasia ORPHA:1865
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... OMIM:301043
Chromosome 6Q11-Q14 Deletion Syndrome
Prominent nasal bridge, Broad nasal tip, High palate, Low-set ears, Umbilical hernia, Short nose OMIM:613544
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, C... ORPHA:1791
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Scoliosis OMIM:612285
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Breech presentation, Sensorineural... OMIM:617796
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspon... OMIM:618958
Gm1-Gangliosidosis, Type I
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Congest... OMIM:230500
Stickler Syndrome, Type I
Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Irregular femoral epiph... OMIM:108300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial hand polydactyly, Hy... OMIM:608091
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing ribs, Hypoplastic ischia, U... OMIM:617866
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Fetal Encasement Syndrome
Omphalocele, Decreased fetal movement, Congenital diaphragmatic hernia, Upper limb undergrowth, L... OMIM:613630
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Tibial bowing, Anteriorly placed anus, Chiari type I ma... ORPHA:798
Kleefstra Syndrome 2
Plagiocephaly, Growth delay, Everted lower lip vermilion, Midface retrusion, Bifid uvula OMIM:617768
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Lumbar h... ORPHA:370959
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Short neck, Vertebral segmentation defect, Abse... OMIM:608022
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... OMIM:615777
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly, Pneumothorax, Pulmonary hypoplasia OMIM:619879
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Sensorineural hearing impairment, Cleft palate, Genu valgum, Irregular vert... ORPHA:250984
Ulnar-Mammary Syndrome
Small scrotum, Bicornuate uterus, Shawl scrotum, Micropenis, Imperforate hymen OMIM:181450
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia, Conotruncal defect OMIM:243440
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Inguinal hernia, Cerebellar atrophy, Short neck, Metatarsus ad... OMIM:616266
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysi... OMIM:602557
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
17P13.3 Microduplication Syndrome
Low-set ears, Wide nose, High palate, Short nose ORPHA:217385
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Patent ductus ar... ORPHA:353281
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Conductive hearing impairment, Low-set, posteriorly rotated e... ORPHA:2052
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Anteverted nares, Wide nasal bridge, Short nose OMIM:618577
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Del... OMIM:612921
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, C... ORPHA:95699
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... ORPHA:536467
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Chronic otitis media, Low-set, posteriorly rotat... ORPHA:1388
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Low-set... OMIM:619910
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Anteverted nares, Depressed nasal bridge, Hydrocephalus, Short columella, Microtia, Low-set ears,... ORPHA:171839
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Inguinal hernia, Prominent metopic ridge, Arachnodactyly, Camptodactyly of fin... ORPHA:2215
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, Pulmonary hypoplasia ORPHA:3309
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Omphalocele, Intestinal malrotation, Polyhydram... ORPHA:2166
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Blepharocheilodontic Syndrome 1
Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Euryblepharon, Distichiasis OMIM:119580
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Telecanthus, Posteriorly rotated ears, Spina bifida, Highly arched eyebrow, Hydroceph... OMIM:613776
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callosum, Choreoathetosi... ORPHA:2524
Scarf Syndrome
Barrel-shaped chest, Thickened nuchal skin fold, Inguinal hernia, Posteriorly rotated ears, Diast... OMIM:312830
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... ORPHA:93360
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Spondyloepimetaphyseal Dysplasia, Shohat Type
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, In... ORPHA:2117
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... ORPHA:1506
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia OMIM:127000
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Syndactyly, Jejunal atresia, Kyphoscoliosis, Joint stiffness, Ileal atresia, Dysplas... OMIM:618820
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Intrauterine growth retarda... OMIM:611134
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Death in infancy, Inguinal hernia, Aganglionic megacolon, Corneal neovascularization... OMIM:308205
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Pulmonary hypoplasia OMIM:612530
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Posteriorly rotated ears, Short neck, Me... OMIM:612813
Prune Belly Syndrome
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap... ORPHA:2970
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Asymmetric septal... OMIM:252930
Atelosteogenesis Type I
Joint dislocation, Short femur, Polyhydramnios, Malrotation of colon, Abnormal ossification invol... ORPHA:1190
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Bruck Syndrome 2
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pect... OMIM:609220
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... ORPHA:583
Alg9-Cdg
Villous atrophy, Short neck, Hydrops fetalis, Large fleshy ears, Narrow greater sciatic notch, Ab... ORPHA:79328
Crouzon Syndrome
Hydrocephalus, Abnormal sacrum morphology, Optic atrophy, Narrow palate, Multiple suture craniosy... ORPHA:207
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi... ORPHA:85172
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Hydrocephalus, Low-set ears, Short nose ORPHA:1895
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... OMIM:610915
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Posteriorly rotated ears, Ataxia, Coxa valga, Aggressive behavior, Microcephaly, Hydrocephalus, O... OMIM:619833
Opsismodysplasia
Polyhydramnios, Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx... OMIM:258480
Microhydranencephaly
Microcephaly, Pachygyria, Athetosis, Hydranencephaly, Macrotia, Agenesis of corpus callosum, Self... OMIM:605013
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Warsaw Breakage Syndrome
Ventricular septal defect, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, Tetralogy ... OMIM:613398
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... ORPHA:60015
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Syndactyly, Sacral dimple, Tricuspid regurgitation, Hearing impairment, Short neck, ... OMIM:616894
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Polyhydramnios, Coxa vara, Narrow greater sciat... ORPHA:93316
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Spina bifida, Camptodactyly of finger, Microcephaly, Cry... ORPHA:99776
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Pulmonary hypoplasia OMIM:251230
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal en... ORPHA:1528
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... OMIM:234250
Marden-Walker Syndrome
Short neck, High, narrow palate, Abnormal sternum morphology, Hypoplasia of the brainstem, Congen... OMIM:248700
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Hydrocephalus, Short nose, Macrotia, Hearing... ORPHA:2701
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Low-set ears, Shawl scrotu... OMIM:615433
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Mucolipidosis Ii Alpha/Beta
Osteopenia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia of... OMIM:252500
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Tracheomalacia, Conductive hearing impairment, Myelomeningocele, ... ORPHA:1393
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... OMIM:270100
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, K... OMIM:612350
Joubert Syndrome 16
Encephalocele, Polydactyly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... OMIM:616276
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Glossoptosis, High p... OMIM:613604
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Hurler Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hypoplasia of the femoral head, Hy... OMIM:607014
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... OMIM:612852
Geroderma Osteodysplastica
Beaking of vertebral bodies, Recurrent fractures, Hip dislocation, Osteoporosis, Abnormal form of... ORPHA:2078
Mmep Syndrome
Microphthalmia ORPHA:3434
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... ORPHA:99429
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Low-set ears OMIM:618974
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Giant Cell Arteritis
Pericarditis, Vertigo, Vasculitis, Optic atrophy, Aortic dissection, Conductive hearing impairmen... ORPHA:397
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo... ORPHA:1248
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Inability to walk, Shortening of all distal phalanges of the fingers, Large earlobe... OMIM:615716
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Breech presentation, Wide anterior fontanel, Conge... OMIM:616482
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Robinow Syndrome, Autosomal Recessive 2
Omphalocele, Ventral hernia, Broad hallux, Sandal gap, Posteriorly rotated ears, Cleft soft palat... OMIM:618529
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility,... OMIM:618853
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Metaphyseal widening, Generalized joi... ORPHA:536471
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Large earlobe, High palate, Low-set ears, Short nose, L... OMIM:617752
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused ce... OMIM:609053
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox... OMIM:618150
Smith-Mccort Dysplasia 2
Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short... OMIM:615222
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Posteriorly rotated ears, Anteverted nares, Delayed eruption of permanent teeth, Low-set ears, Sh... OMIM:618506
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, De... OMIM:252920
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cupped ear, Cleft palate, Pec... OMIM:609654
Mucopolysaccharidosis, Type X
Aortic regurgitation, Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, ... OMIM:619698
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Flexion contracture, Atrioventricular block, Abnormal form of the v... ORPHA:581
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Depressed nasal bridge ORPHA:438178
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Sensorineural hearing impairment OMIM:618379
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Fg Syndrome Type 1
Generalized joint laxity, Abnormal sternum morphology, High palate, Finger syndactyly, Premature ... ORPHA:93932
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Polyhydramnios, Delayed epiphyseal... OMIM:114290
46,Xy Sex Reversal 11
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... OMIM:273250
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Inguinal hernia, Pectus excavatum, Submucous cleft hard palate, Darwin tubercle... OMIM:619122
Cach Syndrome
Premature ovarian insufficiency, Microcephaly, Optic atrophy, Primary amenorrhea, Secondary ameno... ORPHA:135
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Inguinal hernia, Short femur, Wide cranial sutures, Meta... OMIM:618188
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Cone-shaped epiphysis,... ORPHA:71267
Stickler Syndrome Type 1
Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspon... ORPHA:90653
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Mucopolysaccharidosis, Type Iiid
Cerebellar atrophy, Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, In... OMIM:252940
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Short stature, Craniosynostosis, Pyloric stenosis, Bra... ORPHA:314575
C Syndrome
Low-set, posteriorly rotated ears, Omphalocele, Sacral dimple, Toe syndactyly, Joint dislocation,... ORPHA:1308
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Periventricular leukomalacia, Ataxia, Microcephaly, Inability to walk, Partial agenesis of the co... ORPHA:79243
Microcephaly-Cardiomyopathy Syndrome
Abnormality of the outer ear, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, P... OMIM:615948
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility, Intrauterine g... OMIM:617333
Weaver Syndrome
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorineural hearing impairme... OMIM:618652
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Pulmonary hypoplasia, Spina bifida ORPHA:3412
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Atrioventricular canal defect, Pulmonary artery... OMIM:190685
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose ORPHA:2370
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia OMIM:231680
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Cupped ear, Protruding ear,... OMIM:618619
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine... ORPHA:2643
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Enlarged joints, Large tars... OMIM:215150
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Atrial septal defect, Tetra... OMIM:300887
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... OMIM:184460
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal pinna morphology, Short neck, Delayed skeletal maturation, Abnormal rib morp... ORPHA:488434
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Premature birth, Increased bone mineral ... ORPHA:50945
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Inguinal hernia, Craniosynostosis, Delayed skeletal maturation, Abn... ORPHA:2645
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Stroke, Atrial septal... ORPHA:49827
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Bent Bone Dysplasia Syndrome 2
Thickened nuchal skin fold, Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, ... OMIM:620076
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, Sh... OMIM:619736
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Abnormal antihelix morphology,... ORPHA:85194
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... OMIM:226980
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Patent ductus arterio... OMIM:613870
Mucopolysaccharidosis Type 1
Joint dislocation, Abnormal form of the vertebral bodies, Enlarged thorax, Hernia, Chronic otitis... ORPHA:579
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Joubert Syndrome 1
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:213300
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Arthrogryposis Multiplex Congenita 5
Polyhydramnios, Short neck, Flexion contracture, Death in infancy, Scoliosis, Umbilical hernia, 1... OMIM:618947
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Sensorineural heari... OMIM:164210
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Sensorineural hearing impairment, Protr... OMIM:617854
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Pectus carinatum, Low-set ears, Molar tooth sign on MRI, Elongated ... OMIM:618161
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Cone-shaped epiphysis, Short... OMIM:617088
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... OMIM:616038
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Craniometadiaphyseal Dysplasia
Osteopenia, Natal tooth, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Fl... OMIM:269300
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... OMIM:600001
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Posteriorly rotated ears, Abnormal heart morphology, Persistent left s... OMIM:618494
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Microtia, Severe sensorineural hearing impairment, Short nose,... ORPHA:2983
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Multiple joint contractures, Fetal akinesia sequence, Hypoplasia of the ... OMIM:618143
Shashi-Pena Syndrome
Short metacarpal, Posteriorly rotated ears, Accelerated skeletal maturation, Kyphosis, Cupped ear... OMIM:617190
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Congenital sensorineural hearing impairment, Pa... ORPHA:500159
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Frontonasal Dysplasia 1
Anterior basal encephalocele, Low-set ears, Conductive hearing impairment, Tetralogy of Fallot, C... OMIM:136760
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Gm1 Gangliosidosis
Hydrops fetalis, Abnormal form of the vertebral bodies, Premature birth, Hyperlordosis, Cardiomyo... ORPHA:354
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Anencephaly, Pulmonary hypoplasia OMIM:619148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Broad toe, Dysplastic corpus callosum, Cerebral atrophy, Broad finger, Hypoplasia of the corpus c... OMIM:616900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal intervertebral disk morphology, Joint stiffness, Pulmonary embolism, Congestive heart fa... ORPHA:1345
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Short stature, Postnatal growth retardation, Cleft lip, Pierre-Robin se... OMIM:619504
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Premature birth, Pectus ex... ORPHA:1786
Myhre Syndrome
Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia, Hearing impairment, Jo... ORPHA:2588
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Polyhydramnios, Shor... OMIM:200610
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Esophageal Atresia
Omphalocele, Barrett esophagus, Intestinal malrotation, Polyhydramnios, Pyloric stenosis, Laryngo... ORPHA:1199
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Hydrocephalus, Hypoplastic pelvis, L... OMIM:273395
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Inguinal hernia, Pectus excavat... OMIM:612940
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Patent ductus ar... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Conductive hearing impairment, Patent ductus ar... ORPHA:353277
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Optic nerve hypoplasia, P... OMIM:617506
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Hypoplasia of ... ORPHA:959
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoracic kyphosis, ... OMIM:619638
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Short neck, Delayed epiphyseal ossification, Flexion contracture, P... OMIM:210710
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydro... OMIM:610828
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Optic atroph... OMIM:249270
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Congenital hip dislocation, Ataxia, Inability to... ORPHA:357058
Mosaic Trisomy 16
Large placenta, Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Recurrent otitis media, Ventricular septal defect, Abnormal Eustachian tube mo... ORPHA:513456
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Patent ductus arteriosus, Ventricular septal defect, Abnormal location of ears OMIM:218350
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... OMIM:239000
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal stenosis, Hydrocephal... ORPHA:93259
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Low-set ears, Conductive hearing impairment, Intrauterine growth retardat... OMIM:616910
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Tethered cord, Spi... OMIM:617660
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Posteriorly rotated ears, Perimembranous ventricular septal defect, Transposition of the great ar... OMIM:617877
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Macrotia, Abnormal vena cav... ORPHA:163956
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... ORPHA:1529
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Neu-Laxova Syndrome
Ventriculomegaly, Cerebral calcification, External genital hypoplasia, Spina bifida, Absent septu... ORPHA:2671
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Aqueductal stenosis, High palate, Low-set ears, Short nose, Hearing impai... ORPHA:93258
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morpho... ORPHA:1318
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, High, narrow palate, Wide nasal bridge, Low-set ears,... ORPHA:2849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum ORPHA:94066
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Portal h... OMIM:216360
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Delayed skeletal maturation, T... ORPHA:2463
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Pulmonary hypoplasia OMIM:615636
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... OMIM:264180
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia... OMIM:276820
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tong... OMIM:601559
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... ORPHA:93941
Thakker-Donnai Syndrome
Communicating hydrocephalus, Posteriorly rotated ears, Congenital diaphragmatic hernia, Short nec... ORPHA:1780
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short ... ORPHA:198
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Recurrent otitis media, Hear... ORPHA:85202
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
8P23.1 Microdeletion Syndrome
External ear malformation, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic card... ORPHA:251071
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Short metatarsal, Finger clinodactyly, High palate... OMIM:617137
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Dandy-Walker malformation, Preaxial hand polydactyly, Abnormal pelvis bone ossificat... ORPHA:93271
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic ... OMIM:263520
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Low-set ears, Atria... OMIM:618142
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Broad nasal tip OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Protruding ear OMIM:301039
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Esophageal atresia, Hydrocephalus, Hemivertebrae, Tracheoesophageal fistula, Ag... ORPHA:77298
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Chung-Jansen Syndrome
Anteverted nares, Large earlobe, High palate, Short nose, Macrotia OMIM:617991
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna... OMIM:200980
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Sensorineural hearing impairment, Abnormal cardiac septu... ORPHA:250989
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Incre... ORPHA:1782
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Metatarsus adductus, J... ORPHA:584
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Posteriorly rotated ears, Flexion contracture, Shor... OMIM:619479
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Ge... ORPHA:1900
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, High, narrow palate, Hydrocephalus, Pyloric s... ORPHA:2409
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Abnormal pinna morphology, Femur fracture, Perisylvian polymicrogyria... OMIM:618291
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology, Cleft palate,... OMIM:602196
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ... OMIM:615349
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutaneous syndactyl... OMIM:600920
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Conductive hearing impairment, Atrial septal defect, Small earlo... ORPHA:567
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Short nose, Spina bifida occulta, Anteverted nares ORPHA:1185
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Mucolipidosis Iv
Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly OMIM:252650
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Sensorineural hearing impairment, Multiple muscular... ORPHA:391641
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Patell... OMIM:161200
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... OMIM:113500
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Polyhydramnios, Short neck, Flexion contracture, High palate, Scapular wingin... OMIM:620369
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Encephalocele, Microtia, Ventricular septal defect ORPHA:398156
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Sensorineural hearing... OMIM:617751
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina... ORPHA:2308
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Kyphoscoliosis, Cox... OMIM:617425
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Macrotia, Coarctati... OMIM:600460
Congenital Rubella Syndrome
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Atrial sep... ORPHA:290
Hydrolethalus Syndrome 1
Omphalocele, Abnormal pinna morphology, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand... OMIM:236680
Hallermann-Streiff Syndrome
High, narrow palate, Metaphyseal widening, High palate, Spina bifida, Hyperlordosis, Optic disc c... OMIM:234100
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, High palate ORPHA:2598
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal head movements, Abnormal basal ganglia MRI s... ORPHA:363558
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm... OMIM:614744
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Spondyloenchondrodysplasia With Immune Dysregulation
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... OMIM:607944
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Low-set... OMIM:300514
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Thin ribs, Lissencephaly, Polym... OMIM:614833
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Cryptorchidism, Corpus call... ORPHA:565624
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Hypocholesterolemia OMIM:618810
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ... ORPHA:83
Essential Fructosuria
Hyperglycemia ORPHA:2056
Weill-Marchesani Syndrome 2
Short metatarsal, High palate, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal... OMIM:608328
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Joint stiffness, Myelomen... ORPHA:1752
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia OMIM:263200
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Finger syndactyly, Pectus excavatum, Short toe, Advanced eruption of teeth, Low-set ... ORPHA:1519
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Low-set ears, Posteriorly rotated ears OMIM:616898
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Intra... ORPHA:228390
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... OMIM:304150
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Patent ductus arteriosus, Cupped ear, Overfolded helix, Low-set ears, Pulmonic stenosis, Atrial s... OMIM:618223
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Eruption failure, High palate, Short palm, Short phalan... OMIM:166250
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Knee... ORPHA:536532
Microform Holoprosencephaly
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cleft palate, Holopros... ORPHA:280200
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Intrauterine growth retardation, Short nose, Protruding ear ORPHA:1495
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Familial Congenital Mirror Movements
Fused cervical vertebrae, Agenesis of corpus callosum ORPHA:238722
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala... OMIM:614069
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... OMIM:271665
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... ORPHA:2255
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Lenticonus, Hypophosphatemia OMIM:104200
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Molar tooth sign on MRI, Agenesis of c... OMIM:619111
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... OMIM:619268
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Cerebrofacioarticular Syndrome
Syndactyly, Ataxia, Hypospadias, Microcephaly, Dysplastic corpus callosum, Self-injurious behavio... ORPHA:314679
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... OMIM:250250
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Asymmetry of the ears, Posteriorly rotated ears, Antever... OMIM:300166
Sclerosteosis 1
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly... OMIM:269500
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of co... OMIM:613091
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limit... OMIM:619598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Impulsivity, Aggressive behavior, Cupped ear, 2-3 toe syndactyly, Self-injurious beha... OMIM:618914
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Hydrocephalus, Int... ORPHA:163979
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Chiari type I malformation, Clinodactyly of the 5th finger, Prom... ORPHA:1272
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Isotretinoin Syndrome
Spina bifida occulta, Biparietal narrowing, Cleft palate ORPHA:2305
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, I... OMIM:243150
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, High palate, Short nose OMIM:101600
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular leukomalacia, Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, S... ORPHA:255138
Lambotte Syndrome
Macrotia, Ventricular septal defect, Atresia of the external auditory canal, Semilobar holoprosen... OMIM:245552
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Protruding ear, Low-s... ORPHA:329224
Fanconi Anemia
Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly of the 5t... ORPHA:84
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Bone pain, Pectus carinatum, Hernia, Decreased skull ossification, Partia... ORPHA:955
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal optic disc morphology, Low-set ears... OMIM:617516
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Hydrocepha... OMIM:612938
Beckwith-Wiedemann Syndrome
Polyhydramnios, Accelerated skeletal maturation, Congenital diaphragmatic hernia, Subchorionic se... ORPHA:116
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Ventricular septal defect OMIM:602501
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Clinod... ORPHA:794
Cerebellofaciodental Syndrome
Tapered finger, Hypoplasia of the pons, Short neck, Delayed skeletal maturation, Shortening of al... OMIM:616202
Joubert Syndrome 23
Dysplastic corpus callosum, Sensorineural hearing impairment, Polydactyly OMIM:616490
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... ORPHA:99125
Tarp Syndrome
Cerebellar vermis hypoplasia, Premature rupture of membranes, Glossoptosis, High palate, Neonatal... OMIM:311900
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Posteriorly rotated ears, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Pro... OMIM:620001
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation ORPHA:284417
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Abnormal pinna morphology, Ventricular septal de... ORPHA:75389
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Kapur-Toriello Syndrome
Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Atresia of the ext... ORPHA:2328
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly, Ethmoida... OMIM:607597
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, Protruding ear, High ... OMIM:303600
Craniofacioskeletal Syndrome
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Interrup... OMIM:300712
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab... ORPHA:990
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Low-set ears, Atrial sept... OMIM:615355
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormality of the middle ear, Interrupted a... OMIM:188400
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptodacty... ORPHA:2273
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Large fleshy ears, Short nose, Hearing impa... OMIM:602342
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Emphysema, Peripheral p... OMIM:613177
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... OMIM:271510
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Inability to walk, Clubbing, Gait ataxia, Lateral ventricle dilatation, Hypoplasia ... OMIM:618606
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nose, Short nasal septum, Hearing impairment OMIM:302950
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Gaucher Disease, Perinatal Lethal
Pulmonary hypoplasia OMIM:608013
Gm1-Gangliosidosis, Type Ii
Premature birth, Coxa valga, Joint stiffness, Protruding tongue, Optic atrophy, Hypoplastic verte... OMIM:230600
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Microcephaly, Focal polymicrogyria, Cryptorchidism, Partial agenesis of the corpus c... OMIM:619103
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Protruding ear, Bifid uvula, Tapered finger, Short thumb... OMIM:613458
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Low-set ears, Atrial s... OMIM:606003
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangul... ORPHA:73230
Craniosynostosis 2
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... OMIM:604757
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Macroglossia, High palate, Low-set ears,... ORPHA:369891
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Ventricular septal defect, Dextrocardia, Hearing impairment, Situs inversus tota... OMIM:619534
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Low-set ears, Intrauterine growth retardation, Short nose, Macrotia OMIM:615419
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus OMIM:211900
Even-Plus Syndrome
Epiphyseal dysplasia, Dysplastic corpus callosum, Microtia, Agenesis of corpus callosum, Dysplasi... OMIM:616854
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Brachyolmia Type 2
Platyspondyly OMIM:613678
8Q12 Microduplication Syndrome
Atrial septal defect, Sensorineural hearing impairment, Ventricular septal defect, Abnormal crani... ORPHA:228399
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Cleft palate, Abnormal middle ear morphology, Abnormal antihelix... ORPHA:79113
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macrotia, Patent foramen ovale, Transposition of the great arteries, Low-set ears OMIM:616789
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Sensorineural hear... OMIM:612582
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Protruding ear, ... OMIM:249420
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Atresia of the external auditory canal OMIM:209770
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Decreased fetal movement, Inguinal hernia, Congenital hip dislocation, Arachnodactyly... OMIM:225400
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Peho-Like Syndrome
Short nose OMIM:617507
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Polyhydramnios, Congenital diaphragmatic hernia, Abnorma... ORPHA:818
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Uplifted earlobe, Pulmonary artery stenosis, Overfolded helix, Transpo... OMIM:280000
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Anteverted nares, Aganglionic megacolon, Esophageal atresia, H... ORPHA:59315
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal inter... ORPHA:83617
Acromelic Frontonasal Dysplasia
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Bifid nose, Thick nasal alae, Media... ORPHA:1827
Morquio Syndrome C
Platyspondyly OMIM:252300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment OMIM:616277
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... OMIM:615665
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Complete atrioventric... OMIM:619343
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, ... ORPHA:2752
Hydrocephalus, Congenital, X-Linked
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tr... OMIM:307000
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Hig... ORPHA:1716
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Joubert Syndrome 32
Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydactyly, Molar too... OMIM:617757
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency, Submuco... OMIM:614701
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Hyperactivity, Cerebral calcification, Microcephaly, Dysplastic corpus... OMIM:617281
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Tibial bowing, Short palm, Joint contracture, Delayed skeletal ma... OMIM:601812
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology... ORPHA:217085
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han... ORPHA:2658
Lethal Congenital Contracture Syndrome 5
Decreased fetal movement, Death in infancy, Polyhydramnios, Decreased nerve conduction velocity, ... OMIM:615368
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... OMIM:110100
Koolen-De Vries Syndrome Due To A Point Mutation
Calcaneovalgus deformity, Protruding ear, Prominent fingertip pads, Agenesis of corpus callosum, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Calcaneovalgus deformity, Protruding ear, Prominent fingertip pads, Agenesis of corpus callosum, ... ORPHA:363958
Ollier Disease
Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology ORPHA:296
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Waardenburg Syndrome, Type 2E
Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated ve... OMIM:611584
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Microcephaly, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Abnormal pe... OMIM:619725
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Baker-Gordon Syndrome
Prominent nasal tip, Short nose OMIM:618218
Halperin-Birk Syndrome
Colpocephaly, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopros... OMIM:618651
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Abnormal pinna morphology, Patent ductus arteriosus, Cupped ear, Senso... ORPHA:52055
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Conductive hearing impairment, Abnormal vertebral morphology... ORPHA:217093
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Aganglionic megacolon, Broad nasal tip, Hydrocephalus, Sensorineural he... OMIM:239300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased fetal movement, Aganglionic megacolon, Short-segme... OMIM:609136
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Conductive h... ORPHA:576
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Aggressive behavior, Microcephaly, Cryptorchidism, Corpus callosum atrophy, Simplified gyral patt... OMIM:619244
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Single umbilical artery, Narrow chest, Scoliosis, An... OMIM:182210
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Low-set ears, Atrial septal def... ORPHA:2008
Acromicric Dysplasia
Bulbous nose, Anteverted nares, Short nose ORPHA:969
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Joubert Syndrome 30
Cerebellar atrophy, Postaxial hand polydactyly, Molar tooth sign on MRI, Superior cerebellar dysp... OMIM:617622
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dy... ORPHA:457284
Opitz-Kaveggia Syndrome
Multiple joint contractures, Short neck, Partial agenesis of the corpus callosum, Anteriorly plac... OMIM:305450
Pallister-Killian Syndrome
Congenital hip dislocation, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Flexion ... OMIM:601803
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital hip dislocation, Pectus carinatum, Knee dislocation, Shoulder dislocation,... ORPHA:536545
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Epicanthus, Tethered cord, Posteriorly rotated ears, Spina bifida, Cupped ear, Unilateral facial ... OMIM:619480
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Osteogenesis Imperfecta, Type Vii
Osteopenia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest, Death in in... OMIM:610682
Cerebrooculonasal Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Hyd... OMIM:605627
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs ORPHA:2549
Trigonocephaly With Short Stature And Developmental Delay
Posteriorly rotated ears, Ventricular septal defect, Low-set ears OMIM:314320
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Atrial septal defe... OMIM:615668
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyl... OMIM:258850
Arterial Tortuosity Syndrome
Joint laxity, Aortic regurgitation, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic her... OMIM:208050
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Sensorineural he... OMIM:612394
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Aqueductal stenosis, Cleft palat... ORPHA:93260
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, T... OMIM:618265
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... ORPHA:93324
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Aspergillosis
Osteomyelitis, Abnormal rib morphology, Abnormal long bone morphology, Intracranial hemorrhage, A... ORPHA:1163
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Esophageal atresia... OMIM:192350
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Spondyloocular Syndrome
Long toe, Osteopenia, Femur fracture, Arachnodactyly, Overlapping toe, Posteriorly rotated ears, ... OMIM:605822
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Delayed skeletal maturation, Bell-shaped thorax, Pulmonary arterial hypertension... OMIM:614857
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Posteriorly rotated ... OMIM:605275
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc... OMIM:617925
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Congenital diaphragmati... ORPHA:261112
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Coarctation of aorta, Anotia, Microtia, Atresia of the ... ORPHA:268249
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Aortic valve stenosis, Recurr... OMIM:609029
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Inability to walk, Atrophy... ORPHA:2822
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Schimke Immunoosseous Dysplasia
Osteopenia, Lumbar hyperlordosis, Transient ischemic attack, Ovoid vertebral bodies, Short neck, ... OMIM:242900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... OMIM:615866
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspo... OMIM:126550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Dysplastic corpus callosum, Hypospadias OMIM:620135
Cofs Syndrome
Microphthalmia ORPHA:1466
Mosaic Variegated Aneuploidy Syndrome 1
Posteriorly rotated ears, Short neck, Hydrocephalus, Cleft palate, Duodenal atresia, Short sternu... OMIM:257300
Raine Syndrome
Hydrocephalus, Pulmonary hypoplasia OMIM:259775
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Long philtrum ORPHA:2211
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib mor... ORPHA:1666
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Short metatarsal, Coxa vara, Deformed humeral heads, Platyspondy... OMIM:601438
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Dysplastic corpus c... ORPHA:363444
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Prominent metopic ridge, Anal stenosis, Intestinal... ORPHA:2729
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal earlobe... ORPHA:141127
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... OMIM:252600
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Acitretin/Etretinate Embryopathy
Cupped ear, Conotruncal defect, Microtia, Bilateral sensorineural hearing impairment, Atrioventri... ORPHA:40366
Hunter-Macdonald Syndrome
Aortic regurgitation, Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Conductive hear... OMIM:611962
Hajdu-Cheney Syndrome
Osteopenia, Short neck, High palate, Conductive hearing impairment, Dislocated radial head, Joint... OMIM:102500
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Cleft palate, Holopro... ORPHA:261236
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Dysplastic corpus callosum, Sensorineural hearing impairment, Short 5th fi... ORPHA:557003
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Hearing impairment, Conductive hearing... OMIM:601808
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... ORPHA:3003
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Tapered finger, Hyperlordosis, Hip dislocation, Cleft palate, Genu valg... OMIM:301066
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Microcephaly, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of co... OMIM:225790
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... OMIM:253800
Ververi-Brady Syndrome
Macrotia, Cupped ear, Transposition of the great arteries, Low-set ears OMIM:617982
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Dermotrichic Syndrome
Aganglionic megacolon, Short nose, Macrotia, Depressed nasal bridge ORPHA:99688
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impair... ORPHA:1458
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pulmonary hypoplasia OMIM:214100
Microcephaly 26, Primary, Autosomal Dominant
Ventriculomegaly, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia ... OMIM:619179
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Abnormal lateral ventricle morphology, Bowing o... ORPHA:1855
Cystinosis, Nephropathic
Hyponatremia, Retinal pigment epithelial mottling, Reduced blood urea nitrogen, Hypophosphatemia,... OMIM:219800
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ... OMIM:600002
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Polyhydramnios, Anteriorly placed anus, Glossoptosis, High palate, Co... OMIM:117650
Desmosterolosis
Low-set, posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Abnormality of... ORPHA:35107
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Posteriorly rotated ears, Patent ductus arteriosus... OMIM:164280
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window OMIM:620025
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Sensorineural hearing i... OMIM:620075
Ablepharon Macrostomia Syndrome
Omphalocele, Toe syndactyly, Camptodactyly of finger, Microtia, Atresia of the external auditory ... ORPHA:920
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Melanocytic Nevus Syndrome, Congenital
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip OMIM:137550
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Aase-Smith Syndrome I
Abnormal pinna morphology, Hydrocephalus, Ventricular septal defect OMIM:147800
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephalus, High palate, Low-set ... OMIM:618590
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Optic neuropathy, Increased intervertebral space, Broad ... OMIM:619727
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Abnormal pi... OMIM:184705
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip OMIM:611561
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose ORPHA:2429
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger... ORPHA:464
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Severe short stature, High, narrow pala... ORPHA:2780
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia OMIM:208540
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption OMIM:152800
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Polyhydramnios, Accelerated skeletal maturation, Congenital diaphra... OMIM:312870
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bulbous nose, Macrotia, Wide nasal bridge, Short nose OMIM:620292
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Limited elbow movement, Thoracolumbar kyphosis, Increased intervertebral space, N... ORPHA:508533
Dental Anomalies And Short Stature
Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... OMIM:601216
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... OMIM:154780
Camptobrachydactyly
Septate vagina OMIM:114150
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Delayed skeletal m... ORPHA:2107
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Cleft palate, Hearing impairment OMIM:614078
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Tapered finger, Short 3rd toe, Short thumb, Dysplastic corpus callosum, Split hand, Microcephaly,... OMIM:618569
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ataxia, Aggressive behavior, Dysmetria, Dysphagia, Cerebral atrophy, At... ORPHA:572798
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect ORPHA:3369
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus, High palate, L... OMIM:617822
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Sensorineural hearing impairment, Coarctation of aorta, Hypoplastic le... OMIM:618748
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Tethered cord, Hypospadias, Ataxia, Arachnodactyly, Coxa valga, Microcephaly, ... OMIM:620083
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Pulmonary hypoplasia OMIM:308050
Dent Disease 1
Hypophosphatemia OMIM:300009
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Short nose, Depressed nasal bridge, Low-set ears OMIM:614732
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Premature birth, Sh... ORPHA:1830
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ... OMIM:619859
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... ORPHA:90796
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Atresia of th... OMIM:612562
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Fucosidosis
Barrel-shaped chest, Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Coxa v... OMIM:230000
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Posteriorly rotated ears, Asymmetry of the ears, Optic... ORPHA:508488
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Proximal placement of thumb, 2-3 toe cuta... OMIM:270400
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, High, narrow palate,... OMIM:119600
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo... OMIM:601005
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Congenital Disorder Of Glycosylation, Type Iu
Short nose, High palate OMIM:615042
Orofaciodigital Syndrome Xvi
Inguinal hernia, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Low... OMIM:617563
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Pseudoaminopterin Syndrome
Limited elbow movement, High palate, Patchy reduction of bone mineral density, Synostosis of carp... ORPHA:221120
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Thickened helices, Short nose, Hear... OMIM:618828
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Lipoatrophy, Limited elbow movement, Delayed closure of the anterior fontan... OMIM:614008
Tarp Syndrome
Glossoptosis, Small earlobe, Low-set, posteriorly rotated ears, Finger syndactyly, Scoliosis, Wid... ORPHA:2886
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Posteriorly rotated ears, Proximal placement of thumb, Partial agenesis of the corpus callosum, A... OMIM:620113
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Waardenburg Syndrome
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Prominent nasal bridge, Aganglionic mega... ORPHA:3440
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, High, narrow palate, Hi... OMIM:122470
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Distal Deletion 9P
Low-set, posteriorly rotated ears, High, narrow palate, Aplasia/Hypoplasia of the earlobes, Wide ... ORPHA:1642
Oculocerebrorenal Syndrome Of Lowe
Protruding ear, Chronic otitis media, Low-set, posteriorly rotated ears, Death in infancy, Osteom... ORPHA:534
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Abnormalit... ORPHA:435638
Lathosterolosis
Anteverted nares, Bulbous nose, Meningocele, High palate, Intrauterine growth retardation, Short ... ORPHA:46059
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Optic atro... OMIM:220500
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Intrauterine growth ... ORPHA:2083
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ataxia, Aggressive behavior, Unsteady gait, Abnormal cerebral white m... ORPHA:457279
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus... ORPHA:210122
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Depressed nasal ridge, Cleft palate... ORPHA:1912
Lowry-Wood Syndrome
Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Coxa vara,... ORPHA:1824
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Atelis Syndrome 1
Atrial septal defect, Glue ear, Ventricular septal defect, Microtia OMIM:620184
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor, Joint laxity OMIM:617121
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at... ORPHA:884
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Low-set ears, Atr... ORPHA:96167
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hearing abnormality, Intraventr... OMIM:616507
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Wide nasal bridge, High palate, Low-set ears, Short nose, ... OMIM:619383
Radio-Renal Syndrome
Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology, Abnormality o... ORPHA:3015
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Posteriorly rotated ears, Camptodactyly ... ORPHA:263487
Camptobrachydactyly
Septate vagina ORPHA:1319
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge ORPHA:210548
Periventricular Nodular Heterotopia 7
Short nose, Anteverted nares, Cleft palate, Sensorineural hearing impairment OMIM:617201
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Pierpont Syndrome
Microphthalmia ORPHA:487825
Myotubular Myopathy With Abnormal Genital Development
Decreased fetal movement, Death in infancy, Polyhydramnios, Thin ribs, High palate, Neonatal deat... OMIM:300219
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... OMIM:231070
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasi... ORPHA:2754
Unilateral Ocular Duplication
Encephalocele, Frontal bossing, Median cleft lip, Cleft palate, Dolichocephaly ORPHA:3374
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Coarctation of aorta, Round ear, Low-set ears, Subvalvular aortic sten... OMIM:614114
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Depressed nasal ridge, Narrow p... ORPHA:870
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, High, narrow palate, Hypoplasia of the abdominal wall musculature, ... OMIM:612289
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Cupped ear, ... OMIM:602398
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Cavum septum pellucidum, Dilated third ventricle, Agenesis of corp... ORPHA:464738
Non-Distal Duplication 13Q
Abnormal antihelix morphology, Short nose, Aplasia/Hypoplasia of the earlobes, High palate ORPHA:1702
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilata... OMIM:607485
Catel-Manzke Syndrome
Joint dislocation, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5... OMIM:616145
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect, Protruding ear OMIM:616777
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Abnormal pinna morphology, Short neck, Humeroradial synostosis, ... ORPHA:3404
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... ORPHA:90793
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull... OMIM:602361
Joubert Syndrome 20
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Patent ductus arteriosus, Cupped ear, Sensor... OMIM:300472
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Short neck, Abnormal tibia morpholo... ORPHA:2879
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Low-set... OMIM:242860
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Ascending tubular aorta aneurysm, Low-set ears, Atrial septal defect, ... OMIM:309520
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... ORPHA:206448
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... ORPHA:93322
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Delayed eruption of permanent teeth, Anteverted nares OMIM:619356
Ear-Patella-Short Stature Syndrome
High, narrow palate, Anotia, Clinodactyly of the 5th finger, Bifid uvula, Microtia, third degree,... ORPHA:2554
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Flexion contracture, Hypoplasia of the br... OMIM:619306
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o... OMIM:619562
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microtia, Duodenal stenosis ORPHA:2547
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Sensorineural hearing impairment, Coarctation of aorta, Interrupted aor... ORPHA:17
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Macrotia, High palate, Wide nasal bridge OMIM:218000
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Diamond-Blackfan Anemia 8
Short nose, Wide nasal bridge OMIM:612563
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Trisomy 12P
Wide nasal bridge, Cleft palate, Abnormal antihelix morphology, Low-set ears, Short nose, Anal at... ORPHA:1699
Stickler Syndrome
Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Pectus carin... ORPHA:828
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Prominent nasolabial fold, Hypopla... ORPHA:391372
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Vascular dilatation OMIM:219730
Jansen-De Vries Syndrome
Posteriorly rotated ears, Ventricular septal defect, Bicuspid aortic valve, Low-set ears OMIM:617450
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:617260
Osteogenesis Imperfecta, Type Xx
Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph... OMIM:618644
Hand-Foot-Genital Syndrome
Bifid scrotum, Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement... OMIM:140000
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Short neck, Delayed skeletal maturation, Short ster... OMIM:157980
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Joubert Syndrome 33
Molar tooth sign on MRI, Syndactyly OMIM:617767
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Pearson Syndrome
Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Hydrocephalus, Cleft palate, Low-set ears, Short nose ORPHA:1812
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Hydro... ORPHA:667
Xylt1-Cdg
Joint dislocation, Joint laxity, Coxa valga, Accelerated skeletal maturation, Flared metaphysis, ... ORPHA:370930
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... OMIM:260400
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect, Hearing impairment ORPHA:46627
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... ORPHA:2298
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly ORPHA:250977
Suleiman-El-Hattab Syndrome
Optic disc pallor, Ventricular septal defect, Protruding ear, Low-set ears, Atrial septal defect,... OMIM:618950
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus, Wide nasal bridge, Microtia, Short columella, Low-set ears,... OMIM:613603
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Rocker bottom foot, Camptodactyly OMIM:604273
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Hearing im... OMIM:616420
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Cleft pa... ORPHA:1300
Crouzon Syndrome
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, High p... OMIM:123500
Joubert Syndrome 27
Molar tooth sign on MRI, Polydactyly OMIM:617120
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Delpire-Mcneill Syndrome
Ventricular septal defect, Bilateral sensorineural hearing impairment OMIM:619083
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Muenke Syndrome
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis ORPHA:53271
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Bulbous nose, Large earlobe, Low-set ears, Intrauterine growth retardation, ... ORPHA:485405
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Narrow palate, Mi... OMIM:277600
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Bilateral conductive hearing impairment, Low-set ears, Volvu... OMIM:617802
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Turnpenny-Fry Syndrome
Cerebellar vermis hypoplasia, Polyhydramnios, Pectus carinatum, Prominent interphalangeal joints,... OMIM:618371
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia ORPHA:428
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Low-set ears, Recurre... OMIM:618027
Ablepharon-Macrostomia Syndrome
Omphalocele, Ventral hernia, Short metacarpal, Toe syndactyly, Microtia, third degree, Anteriorly... OMIM:200110
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Vasculitis, Ascending tubular aorta a... ORPHA:2331
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Depressed nasal bridge, Anteverted nares, Short nose OMIM:614613
Peho Syndrome
Anteverted nares, External ear malformation, Hydrocephalus, Short nose, Macrotia ORPHA:2836
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Microtia, Short nose, Hearing impair... OMIM:249620
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Genu recurvatum,... ORPHA:79139
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Optic atrophy, Atrial septal ... OMIM:614576
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Protruding ear, Aortic root aneurysm, Mitral st... ORPHA:96201
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Optic disc pallor, Polyhydramnios, Tapered finger, Pectus excavatum, Kyphos... ORPHA:464311
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Protruding ear, Abnormal antihelix morphology, Macroglossia... ORPHA:261144
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Prominent interphalange... OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Anal stenosis, Spina bifida, Hydrocephalus, Abnormal joint morpholo... ORPHA:322
Gomez-Lopez-Hernandez Syndrome
Posteriorly rotated ears, Anteverted nares, High palate, Low-set ears, Short nose OMIM:601853
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, High palate, Protruding ear OMIM:615539
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Toriello-Carey Syndrome
Abnormal pinna morphology, Aganglionic megacolon, Patent ductus arteriosus, Coarctation of aorta,... ORPHA:3338
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Esophageal atresia, Overfolded helix, Cleft palate, Microtia, ... OMIM:610536
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... OMIM:229400
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Depressed nasal ridge, Short nose ORPHA:2831
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Pectu... OMIM:225500
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, Protruding ear, Colpocephaly... ORPHA:261250
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Coronary artery fistula, Abnor... OMIM:614294
Aspartylglucosaminuria
Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Malabsorption, Delayed skeletal ma... ORPHA:93
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Hearing impairment, Optic atrophy, Low-set ears, Atrial septal defect,... OMIM:614261
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect ORPHA:1425
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Cleft palate, Anal atresia ORPHA:95706
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Microtia, Atresia of the external a... ORPHA:1770
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Diamond-Blackfan Anemia 10
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Microtia, Atresia ... OMIM:613309
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persis... OMIM:618775
Intellectual Developmental Disorder, X-Linked 21
Short nose, Uplifted earlobe OMIM:300143
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Omphalocele, Death in infancy, Intestinal malrotation, Polyhydramnios, Umbilical hernia, Microcolon ORPHA:2241
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... OMIM:603116
Burn-Mckeown Syndrome
Ventricular septal defect, Conductive hearing impairment, Protruding ear, Atrial septal defect, H... OMIM:608572
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... OMIM:613001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus, Optic atr... ORPHA:457193
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis OMIM:610205
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
16P11.2P12.2 Microdeletion Syndrome
Anteverted nares, Abnormal pinna morphology, Long nose, Bulbous nose, Absent nasal bridge, Low-se... ORPHA:261211
Acrodysostosis
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Wide ... ORPHA:950
Chops Syndrome
Brachydactyly, Tracheomalacia, High, narrow palate, Optic atrophy, Thickened helices, Cervical C2... OMIM:616368
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Cleft soft palate, Sensorineu... OMIM:616331
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Posteriorly rotated ears, Sandal gap, Microcephaly, Inability to walk, Small hand, 2-3 to... OMIM:619229
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Macrotia, Ventricular septal defect, Low-set ears ORPHA:166035
Isolated Anencephaly
Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Sensorineur... OMIM:616580
Tyshchenko Syndrome
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Pulmonic stenosis, Atrial sept... OMIM:615102
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Abnormal trabecular bone morphology, Death in infancy, Femur fracture, Hy... OMIM:612301
Autosomal Dominant Centronuclear Myopathy
Decreased fetal movement, Miscarriage, Polyhydramnios, Pyloric stenosis, Thin ribs ORPHA:169189
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Hydrocephalus, Abnormal brainstem morphology, Reduced bone mineral density, High ... ORPHA:2720
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Glossoptosis, High palate, Conductive hearing impairment, Abnormal vertebral morphology, Low-set,... ORPHA:444077
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia, Wide nasal bridge OMIM:175700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Pectus excavatum, High, narrow... ORPHA:1101
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93325
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares OMIM:619854
Cranioectodermal Dysplasia 2
Polyhydramnios, Short neck, Hydrops fetalis, High palate, Narrow chest, Simple ear, Joint laxity,... OMIM:613610
Filippi Syndrome
Optic atrophy, Ventricular septal defect OMIM:272440
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, Intrauterine growth retardatio... ORPHA:1915
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Sponastrime Dysplasia
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... ORPHA:93357
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect, Protruding ear ORPHA:2256
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Vertigo, Optic atrophy, Abnormal brainstem morphology, Telangiectasia... ORPHA:79279
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Narrow nasal ridge, Prominent nose, High palate, Low-set ears, Intrauteri... ORPHA:363528
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carpal bones, Hypophosphatemic ric... ORPHA:51608
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Underdeveloped antitragus, Abnormal preputium morphology, Choroid plexu... ORPHA:293725
Neurocutaneous Melanocytosis
Meningocele, Chorioretinal coloboma ORPHA:2481
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... ORPHA:2148
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Short nos... OMIM:614749
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Sensorineural hearing impairment, Abnormal earlobe ... ORPHA:261330
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Microtia, Short nose, Macrotia, Hearing impairment OMIM:620250
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Abnormal pinna morphology, Protruding ear, Low-set ears, Atrial septal... OMIM:617452
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate, Overfolded helix, Macrotia,... OMIM:617061
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares ORPHA:228384
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... OMIM:618641
Al-Raqad Syndrome
Short nose, Low-set ears OMIM:616459
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Conductive hearing impairment, Clinodactyly o... OMIM:136140
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Underdeveloped nasal alae, Malabsorption, Sensorineural hearing impair... ORPHA:2315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Optic atrop... OMIM:236670
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:2753
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose ORPHA:3307
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Hypospadias, Sandal ga... ORPHA:813
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... OMIM:259770
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Sensorineural hearing impairment, Intrauterine growth retardation, S... ORPHA:391408
Coccidioidomycosis
Pericarditis, Osteomyelitis, Hydrocephalus, Vasculitis, Osteolysis, Abnormal long bone morphology... ORPHA:228123
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Gabriele-De Vries Syndrome
Waddling gait, Hallux valgus, Posteriorly rotated ears, Sandal gap, Cryptorchidism, Long fingers,... OMIM:617557
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Kapur-Toriello Syndrome
Ventricular septal defect, Conductive hearing impairment, Patent ductus arteriosus, Low-set ears,... OMIM:244300
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal st... ORPHA:2519
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Septate vagina, 4-5 toe syndactyly, 3-5 toe syndactyly, Bicornuate uterus, Rectov... OMIM:300707
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Low-set ears,... ORPHA:1790
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Perlman Syndrome
Low-set ears, Interrupted aortic arch OMIM:267000
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Coarctation of aorta, Recurrent ... OMIM:614921
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Ventricular septal defect OMIM:618504
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Low-set ears, Short nose OMIM:618430
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Posteriorly rotated ears, Patent ductus arteriosus, Cardiomyopathy, Aortic ... OMIM:135500
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Proteus Syndrome
Pulmonary embolism, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodacty... ORPHA:744
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Histiocytoid ca... OMIM:309801
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... OMIM:601707
Townes-Brocks Syndrome
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Abnormal vertebral m... ORPHA:857
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia... OMIM:619503
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum ORPHA:137634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, 11 pairs of ribs, Absent ... OMIM:615287
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, Short nose ORPHA:93329
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibil... OMIM:166220
Beckwith-Wiedemann Syndrome
Omphalocele, Prominent metopic ridge, Diastasis recti, Accelerated skeletal maturation, Macroglos... OMIM:130650
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... OMIM:610442
Semilobar Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... ORPHA:220386
Alobar Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... ORPHA:93926
Lobar Holoprosencephaly
Sensorineural hearing impairment, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, ... ORPHA:93924
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Protruding ear, Micro... OMIM:301030
Smith-Kingsmore Syndrome
Umbilical hernia, Short nose, Depressed nasal bridge OMIM:616638
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Kaufman Oculocerebrofacial Syndrome
Short nose, Hypocholesterolemia OMIM:244450
Meier-Gorlin Syndrome 6
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Underdeveloped nasal alae, De... OMIM:616835
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele, Optic disc pallor OMIM:612291
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Woods Syndrome
Optic atrophy, Ventricular septal defect OMIM:615236
Braddock-Carey Syndrome 1
Posteriorly rotated ears, Macrotia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, High palate, Intrauterine... ORPHA:2510
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Baraitser-Winter Syndrome 1
Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Low-set ears, Overfolded h... OMIM:243310
Elsahy-Waters Syndrome
Delayed eruption of teeth, Anal stenosis, Posteriorly rotated ears, Pectus excavatum, Abnormality... OMIM:211380
47,Xyy Syndrome
Hydrocephalus, Abnormal brainstem morphology, Finger clinodactyly, Low-set ears, Dysgenesis of th... ORPHA:8
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Pelger-Huet Anomaly
Recurrent otitis media, Umbilical hernia, Ventricular septal defect OMIM:169400
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Dilation of Virchow-Robin spaces, Ventricular septal defect, Pulmonary artery stenosis, Absent an... OMIM:300998
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Tracheoesophageal fistula, C... ORPHA:861
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose OMIM:618618
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Smith-Magenis Syndrome
Depressed nasal bridge, Anteverted nares, Delayed eruption of primary teeth, Wide nasal bridge, C... ORPHA:819
Microphthalmia With Limb Anomalies
Posteriorly rotated ears, Depressed nasal bridge, Flared nostrils, Cleft palate, High palate, Low... OMIM:206920
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Broad hallux, Deviation of the hallu... ORPHA:434179
Sotos Syndrome
Ventricular septal defect, Posteriorly rotated ears, Conductive hearing impairment, Patent ductus... OMIM:117550
Congenital Disorder Of Glycosylation, Type Il
Short nose, Depressed nasal bridge, Low-set ears OMIM:608776
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Depressed nasal bridge ORPHA:2835
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Recurrent otitis media, Ventricular septal defect, Dextrocardia OMIM:616037
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Metatarsus adductus, Cryptorchidism, Sensorineural hearing impairment, Optic nerve d... OMIM:614866
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia ORPHA:731
Orofaciodigital Syndrome V
Ventricular septal defect, Aganglionic megacolon, Optic disc coloboma, Low-set ears, Tetralogy of... OMIM:174300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Patent ductus arteriosus, Ventricular septal defect, Atresia of th... OMIM:106260
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Noonan Syndrome 3
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Patent ductus arteriosus,... OMIM:609942
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Harel-Yoon Syndrome
Short nose OMIM:617183
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Colonic Atresia
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia ORPHA:1198
King-Denborough Syndrome
Ventricular septal defect, Low-set ears OMIM:619542
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Microglossia, Cle... ORPHA:364577
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Conductive hearing impairment, Short nose ORPHA:561
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Wrinkly Skin Syndrome
Delayed eruption of teeth, Osteopenia, Scapular winging, Congenital hip dislocation, Inguinal her... OMIM:278250
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect, Tinnitus ORPHA:369929
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc... OMIM:166200
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Bradykinesia, Hypoplasia of the corpus callosum,... OMIM:614924
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Bulbous nose, Wide nasal bridge, Cleft palate, Protruding ear, Low-set ears, Short nose OMIM:618571
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Uplifted earlobe, Aganglionic megacolon, Pulmo... OMIM:235730
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Prominent nose, Prominent n... ORPHA:439822
Roifman Syndrome
Recurrent otitis media, Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart... ORPHA:42775
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Stiff neck, Facial palsy, Abnormal midbrain morphology, Ab... ORPHA:68
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Atrial septal defec... OMIM:620024
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Atrial septal defect, Overfold... OMIM:617360
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Hydrocephalus, ... OMIM:115150
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Anterior rib cupping, Horizontal inferior border of scapula, Platyspondyly, Abnormal pelvic girdl... OMIM:102700
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, T... ORPHA:363659
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the external ear, Low-set ears, Atrial septal de... ORPHA:505237
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Optic atrophy, Abnormal heart morph... ORPHA:494344
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, High palate, Low-set ears, Intrauterine growth retardation, Short nose OMIM:219200
Faciocardiorenal Syndrome
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum ORPHA:1973
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina... ORPHA:85199
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Pyloric stenosis, Hydrocephalus, Holoprosencephaly, Low... OMIM:147791
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Hyperglycemia OMIM:615954
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Sensorineural hearing impairment, Hydrocephalus, Low-set ears, Recurre... OMIM:619575
Distal Deletion 19P
Low-set, posteriorly rotated ears, Ventricular septal defect, Sensorineural hearing impairment, T... ORPHA:96129
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal rib morphology, ... ORPHA:2907
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Papilledema, Abnormal heart valve morphology, Abnormal... ORPHA:580
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Optic nerve hypoplasia OMIM:615879
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Pontocerebellar Hypoplasia, Type 8
Posteriorly rotated ears, Ventricular septal defect, Patent foramen ovale, Low-set ears OMIM:614961
Holoprosencephaly 3
Proboscis, Cleft lip, Cleft palate, Holoprosencephaly, Midface retrusion, Solitary median maxilla... OMIM:142945
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella OMIM:617865
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Lo... OMIM:616430
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Narrow chest, Small earlobe, Agenesis of corpus callosum, Dandy-... OMIM:264090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... OMIM:614643
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose ORPHA:289266
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules OMIM:162200
Dend Syndrome
Short nose, Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Sensorineural hearing impairment, Cone-shaped epiphyses of the phalanges o... OMIM:619269
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Seckel Syndrome 2
Microphthalmia OMIM:606744
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Prolidase Deficiency
High palate, Short nose, Concave nasal ridge, Depressed nasal bridge OMIM:170100
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Hallux valgus, Hypospadias, Ph... ORPHA:75857
Choreoacanthocytosis
Caudate atrophy, Chorea, Compulsive behaviors, Loss of ambulation, Small basal ganglia, Decreased... ORPHA:2388
Distal Deletion 3P
Short stature, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin vermilion border, H... ORPHA:1620
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:618870
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose ORPHA:1389
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Underdeveloped nasal alae, Wide nasal bridge, Low-set ears, Intrauterine growth... OMIM:613026
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... OMIM:614207
Ogden Syndrome
Pulmonary artery stenosis, Pulmonary hypoplasia, Umbilical hernia, Peripheral pulmonary artery st... OMIM:300855
Ring Chromosome 7 Syndrome
Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide nasal brid... ORPHA:1449
Kleefstra Syndrome 1
Abnormal pinna morphology, Conotruncal defect, Hearing impairment OMIM:610253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Anteverted nares, High palate, Low-set ears, Short nose ORPHA:314655
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Low-set ears ORPHA:261190
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Short nose, Sensorineural hearing impairment ORPHA:544503
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Lathosterolosis
Anteverted nares, Myelomeningocele, Wide nasal bridge, High palate, Conductive hearing impairment... OMIM:607330
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Baller-Gerold Syndrome
Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Cleft palate, Anteriorly placed anus,... ORPHA:1225
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
19P13.3 Microduplication Syndrome
Posteriorly rotated ears, Microtia, Ventricular septal defect, Low-set ears ORPHA:447980
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Doors Syndrome
Optic atrophy, Sirenomelia, Atresia of the external auditory canal, Low-set ears, Double outlet r... ORPHA:79500
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal d... OMIM:300963
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... OMIM:615582
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Hearing impairment, Patent ductus a... ORPHA:96121
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, High palate, Short nose, Low hanging ... OMIM:615803
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Glue ear, Dextrocardia, Hydrocephalus, Abnorm... ORPHA:3310
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasal bridge, Cl... ORPHA:560
Bartsocas-Papas Syndrome
Short nose, Cleft palate, Underdeveloped nasal alae ORPHA:1234
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Short nose OMIM:613038
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Hydrocephalus, Submu... ORPHA:1340
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... ORPHA:284984
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Accelerated skeletal maturation, Celiac disease, Sensorineural hear... ORPHA:293987
Floating-Harbor Syndrome
Enlarged joints, Short neck, Humeral pseudarthrosis, Conductive hearing impairment, Dislocated ra... ORPHA:2044
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Hig... OMIM:300749
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Upper limb undergrowth, Slender long bone, Low-set ears, Jerky head movements... ORPHA:369837
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Dubowitz Syndrome
Wide nasal bridge, Hypocholesterolemia OMIM:223370
Kury-Isidor Syndrome
Recurrent otitis media, Ventricular septal defect, Low-set ears OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 1
Prominent nose, Bulbous nose, Cupped ear, Depressed nasal ridge, Protruding ear, Macroglossia, Sh... OMIM:156200
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Anteverted ears, Short nose OMIM:618087
Noonan Syndrome 4
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Pulmonic stenosis, Low-se... OMIM:610733
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Macroglossia, High palate, Low-set ears, Short nose, Ma... ORPHA:357001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, High palate, Low-set ears, Short nose OMIM:615398
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... ORPHA:98755
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Diets-Jongmans Syndrome
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation, Long ear, Um... OMIM:618846
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Hydr... ORPHA:261337
Tick-Borne Encephalitis
Back pain, Abnormal medulla oblongata morphology, Stiff neck, Facial palsy, Abnormal brainstem MR... ORPHA:297
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Protruding tongue, Sensorineu... OMIM:301040
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Beck-Fahrner Syndrome
Protruding ear, Ventricular septal defect, Cardiomegaly OMIM:618798
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Autosomal Dominant Omodysplasia
Short nose, Depressed nasal bridge ORPHA:93328
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy OMIM:101800
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly ORPHA:2189
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Underdeveloped nasal alae, Hydrocephalus, Sensorineural hearing impairmen... OMIM:616007
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Aarskog-Scott Syndrome
Anteverted nares, Wide nasal bridge, Cleft palate, Large earlobe, Short nose OMIM:305400
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, High palate, Shor... ORPHA:1358
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect, Low-set ears OMIM:616901
Mgat2-Cdg
Low-set, posteriorly rotated ears, Ventricular septal defect, Posteriorly rotated ears, Patent du... ORPHA:79329
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Diamond-Blackfan Anemia 5
Ventricular septal defect, Low-set ears OMIM:612528
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... OMIM:610688
Craniofacial-Deafness-Hand Syndrome
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment OMIM:122880
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... ORPHA:99228
Monosomy X
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... ORPHA:99226
Turner Syndrome
Osteopenia, Myocardial infarction, Short neck, High, narrow palate, Reduced bone mineral density,... ORPHA:881
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Low-set ears, Macrotia, Butterfly... OMIM:118450
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Sensorineural hearing impairme... OMIM:602782
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Short st... OMIM:614188
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Low-set ears OMIM:618325
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Webbed penis, Mic... ORPHA:261537
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Hydrocephalus, Recurrent uppe... ORPHA:264450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect OMIM:615630
Cadds
Intrauterine growth retardation, Short nose, Sensorineural hearing impairment ORPHA:369942
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele, Anal atresia, Scoliosis ORPHA:3164
Costello Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Mitral valve prolapse, Large earlob... ORPHA:3071
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormality of the nose, Underdeveloped nasal alae, Extern... ORPHA:2710
Ruvalcaba Syndrome
Intrauterine growth retardation, Short nose, Convex nasal ridge ORPHA:3121
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Hearing impairment, Low-set ears, Atrial septal defect, Patent foramen... OMIM:208085
Witteveen-Kolk Syndrome
Glue ear, Uplifted earlobe, Proximal placement of thumb, Cortical dysplasia, Protruding ear, Male... OMIM:613406
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Pulmonary lymph... OMIM:235255
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Wide nasal bridge, Glucose intolerance, ... OMIM:269880
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Hypoplastic left hear... ORPHA:2473
19P13.12 Microdeletion Syndrome
Ventricular septal defect, External ear malformation, Conductive hearing impairment, Sensorineura... ORPHA:254346
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Coarctation of aorta, Abnormal aortic morphology, Holoprosence... ORPHA:1052
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Hearing impairment OMIM:256600
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Peho Syndrome
Short nose OMIM:260565
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Brain Malformations With Or Without Urinary Tract Defects
Short nose, Anteverted nares, Overfolded helix, Low-set ears OMIM:613735
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Wide nasal bridge, Microtia, Submucous cleft soft palate, In... ORPHA:2282
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Low-set ears, Abnormal heart morphology ORPHA:404440
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Anteverted nares, Broad nasal tip, Prominent nasolabial fold, High palate, Low-set ears, Intraute... ORPHA:357074
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal right ventricle morphology, Sensorineural hearing impairment,... ORPHA:500095
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula OMIM:601374
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Conductive hearin... ORPHA:2152
Prader-Willi Syndrome Due To Translocation
Overlapping toe, Hypogonadotropic hypogonadism, External genital hypoplasia, Microcephaly, Small ... ORPHA:177907
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... OMIM:614609
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Abnormal pinna morphology, Depressed nasal bridge, Anteverted nares, Cleft palate, Anteriorly pla... OMIM:217980
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Low-set ears, Right ventricular hypertrophy OMIM:613404
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Patent ductus arterio... OMIM:610759
Rodrigues Blindness
Microphthalmia OMIM:268320
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Macrocephaly/Autism Syndrome
High palate, Short nose, Depressed nasal bridge OMIM:605309
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Warburg Micro Syndrome 3
Short nose, Macrotia, Narrow palate OMIM:614222
Malan Syndrome
Advanced eruption of teeth, Short nose OMIM:614753
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, High, narrow palate, Protruding ear, Eruption failure, ... OMIM:230740
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnormal earlobe morphology, U... ORPHA:96191
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Hydrocephalus, Intrauterine growth retardation, Short ... OMIM:619321
Radio-Tartaglia Syndrome
Ventricular septal defect, Large earlobe, Low-set ears, Conductive hearing impairment, Hearing im... OMIM:619312
Toluene Embryopathy
Short nose, Low-set ears, Protruding ear ORPHA:1920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Wide nose, Prominent nasal bridge, Cleft palate, High palate, Low-set ears, Short nose, Convex na... ORPHA:251028
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Chronic Mucocutaneous Candidiasis
Dyspareunia, Abnormal vagina morphology ORPHA:1334
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Aqueductal stenosis, ... OMIM:154400
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Short nose, High palate, Wide nasal bridge OMIM:618005
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Phelan-Mcdermid Syndrome
Ventricular septal defect, Patent ductus arteriosus, Protruding ear, Macrotia, Hearing impairment OMIM:606232
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Rectal abscess, Cong... ORPHA:436252
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Large placenta, Microtia, Low-set ears, Pulmonic stenosis, Tetralogy o... OMIM:222470
Intellectual Developmental Disorder, X-Linked 98
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... OMIM:300912
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Short ear, Prominent inferior crus of antihelix, Anteverted nares, Depressed... OMIM:618332
Pontocerebellar Hypoplasia, Type 2E
Large earlobe, Wide nose, Short nose OMIM:615851
Jaberi-Elahi Syndrome
Short nose, Depressed nasal bridge, Low-set ears, Protruding ear OMIM:617988
Musculocontractural Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Malrotation of small bowel, Cleft p... ORPHA:2953
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Low insertion of columella, ... OMIM:619005
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Webbed penis, Mic... ORPHA:261552
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Bardet-Biedl Syndrome 9
Hyperglycemia OMIM:615986
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Low-set ears OMIM:270450
Monosomy 18P
Microphthalmia ORPHA:1598
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Clef... OMIM:164200
White-Kernohan Syndrome
Dysplastic corpus callosum, Hip dysplasia, Rectovaginal fistula, Low-set ears, Attention deficit ... OMIM:619426
Adenylosuccinase Deficiency
Short nose, Anteverted nares, Low-set ears OMIM:103050
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Tricuspid regurgitation, Sandal gap, Delayed cranial suture closure, Decreased fibula... OMIM:619127
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, High palate ORPHA:329178
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose ORPHA:496790
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Conductive hearing impa... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Conductive hearing impa... ORPHA:352665
Joubert Syndrome 17
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Myopathy With Extrapyramidal Signs
Optic atrophy, Ventricular septal defect OMIM:615673
Temtamy Syndrome
Microphthalmia OMIM:218340
Chime Syndrome
Ventricular septal defect, Tetralogy of Fallot, Transposition of the great arteries, Pulmonary va... ORPHA:3474
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Protruding ear OMIM:619123
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyebrow, Absent eyebrow, Meningocele, Sparse eyelashes ORPHA:1010
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge, Overfolded... OMIM:608156
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Overfolded helix, Cleft palate, Intr... OMIM:301044
Acrocallosal Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Persistence of primary teeth, Protruding ton... OMIM:200990
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Cranial nerve compression, O... ORPHA:2785
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Molar tooth sign on MRI, In... OMIM:619476
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Optic atrophy, Low-set ears, Patent foramen ... OMIM:613457
Wilson Disease
Osteomalacia, Decreased nerve conduction velocity, Osteoarthritis, Osteoporosis, Esophageal varix... OMIM:277900
Keutel Syndrome
Calcification of the auricular cartilage, Ventricular septal defect, Pulmonary artery hypoplasia,... OMIM:245150
3Q29 Microdeletion Syndrome
Prominent nasal bridge, High palate, Low-set ears, Short nose, Macrotia ORPHA:65286
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Macrotia, Ventricular septal defect OMIM:234050
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Distal Duplication 5Q
Macrotia, Ventricular septal defect, Dextrocardia, Low-set ears ORPHA:96097
Moebius Syndrome
Microphthalmia OMIM:157900
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:465508
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Cranium bifidum occultum, Tetralogy of Fallot, Low-set, posteriorl... ORPHA:306542
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Protruding tongue, Sensorineural hearing impairment, Low-set ears, Intrauterine growth... OMIM:608779
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Tethered cord, Septate vagina OMIM:176450
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Protruding ear, Mitral valve prolaps... OMIM:617107
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Dilated third ventricle, Ventriculomegaly OMIM:615574
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Genitopatellar Syndrome
Small scrotum, Congenital hip dislocation, Micropenis, Pachygyria, Agenesis of corpus callosum, S... OMIM:606170
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Anteverted nares, Posteriorly rotated ears, High, narrow palate, Bulbous nos... OMIM:601358
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:153400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect, Cholesteatoma OMIM:610978
Mietens Syndrome
Wide nose, Wide nasal bridge, Short nose ORPHA:2557
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Posteriorly rotated ears, Cleft palate, Microtia, Low-set ears, Short nos... OMIM:601353
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... ORPHA:124
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Low-set ears, Uplifted earlobe OMIM:616449
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema ORPHA:289
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Filippi Syndrome
Optic atrophy, Ventricular septal defect ORPHA:3255
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Sensorineural hearing impairment, High palate, Low-set ears, Short nose, ... OMIM:300661
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Warburg Micro Syndrome 2
Short nose, Macrotia, Prominent nasal bridge, Asymmetry of the ears OMIM:614225
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Dysplastic corpus callos... OMIM:300967
Distal Renal Tubular Acidosis
Osteomalacia, Sensorineural hearing impairment, Bone pain, Rickets, Reduced bone mineral density,... ORPHA:18
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Narrow pa... ORPHA:109
Helsmoortel-Van Der Aa Syndrome
Short 4th toe, Compulsive behaviors, Clinodactyly of the 5th finger, Prominent fingertip pads, Ab... OMIM:615873
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... OMIM:301068
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia ORPHA:2505
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia ORPHA:134
Trisomy 10P
Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials, Abnormality of the... ORPHA:171929
Zellweger Syndrome
External ear malformation, Sensorineural hearing impairment, Optic atrophy, Ventricular septal de... ORPHA:912
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Cerebral white matter hypoplasia, Tapered finger, Cryptorchidism, Short thumb, Colpo... ORPHA:477993
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Esophageal strictu... ORPHA:2908
Coffin-Siris Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Recurrent u... ORPHA:1465
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose ORPHA:1129
Syndromic Diarrhea
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:84064
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Sensorineura... OMIM:612474
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Anteverted ears, Holoprosencephaly, Low-set ears, Umbilical hernia, Pa... OMIM:613884
Kabuki Syndrome 1
Ventricular septal defect, Posteriorly rotated ears, Hydrocephalus, Protruding ear, Coarctation o... OMIM:147920
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Hearing impairment ORPHA:217346
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology ORPHA:467166
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Pe... OMIM:180700
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Posteriorly rot... ORPHA:3107
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Chromosome 17Q12 Deletion Syndrome
Long toe, Cryptorchidism, Long fingers, Pica, Upper limb undergrowth, Protruding ear, Short foot,... OMIM:614527
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology, Scoliosis, Accelerated skeletal ma... ORPHA:251937
Poikiloderma With Neutropenia
Short nose, Depressed nasal bridge, Recurrent sinusitis, Underdeveloped nasal alae OMIM:604173
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta, Atrial septal defect, Spina ... OMIM:105650
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Sensorineural hearing impairment, Coarctatio... OMIM:163950
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Opitz Gbbb Syndrome
Posteriorly rotated ears, Umbilical hernia, Ventricular septal defect, Low-set ears OMIM:300000
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Ventricular septal defect, Macrotia, Sensorineural hearing i... OMIM:107480
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Ventricular septal defect, Sensorineural hearing impairment, Low-set ea... OMIM:212066
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Abnormal antihelix... ORPHA:3047
3Q29 Microduplication Syndrome
Ventricular septal defect, Low-set ears, Hearing impairment ORPHA:251038
Marfan Syndrome
Arachnodactyly, Protrusio acetabuli, Pectus excavatum, Kyphosis, Meningocele, Pectus carinatum, S... ORPHA:558
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Protruding ear, Short nose, Macrotia OMIM:601675
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Ventricular septal defect, Anteverted ears, Dilatation of the ventricular cavity, Pulmonary arter... ORPHA:459070
Peters-Plus Syndrome
Hypoplasia of the vagina, Proximal placement of thumb, Short metatarsal, Protruding ear, Clitoral... OMIM:261540
Costello Syndrome
Ventricular septal defect, Posteriorly rotated ears, Hydrocephalus, Mitral valve prolapse, Vestib... OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Refsum Disease
Microphthalmia ORPHA:773
Temtamy Preaxial Brachydactyly Syndrome
Severe sensorineural hearing impairment, Short nose, Low-set ears ORPHA:363417
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Eruption failure, Short nose, High palate ORPHA:476126
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
High palate, Short nose, Posteriorly rotated ears, Low-set ears OMIM:617527
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Ventricular septal defect OMIM:263630
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Hydrocephalus, Short nose ORPHA:505248
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Ataxia, Aggressive behavior, Bilateral cryptorchidism, Cryptorchidism, Dysplastic ... ORPHA:466791
Opsismodysplasia
Short nose, Depressed nasal bridge ORPHA:2746
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy, Stroke-like episode ORPHA:137675
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, High palate, Overfolded helix... ORPHA:1974
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Low-set ears, Posteriorly rotated ears OMIM:605039
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Posteriorly rotated ears, Ventricular septal defect, Abnormal pinna morphology, Patent ductus art... OMIM:616975
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Short nose, High palate, Sensorineural hearing impairment ORPHA:521426
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture ORPHA:79409
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Recurrent otitis media, Simple... OMIM:618268
Hand-Foot-Genital Syndrome
Microtia, Ventricular septal defect ORPHA:2438
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Cornea... OMIM:309000
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Abnormality of dental color, Cranial asymmetry, Short stature OMIM:163200
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Macrotia, Ventricular septal defect, Low-set ears OMIM:250410
Cohen Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, ... ORPHA:193
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Renal And Mullerian Duct Hypoplasia
Short nose OMIM:266810
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, High, narrow palate, Hydrocephalus, Bulbous nose, Cupped ear, Wide nasal bridge... OMIM:619475
Deeah Syndrome
Hearing impairment, Malabsorption, Narrow palate, High palate, Low-set ears, Prominent nasal tip,... OMIM:619004
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Posteriorly rotated ears, Intestinal malrotation, Hiatus hernia, Cleft palate, Protruding ear, Sh... OMIM:601776
Wiedemann-Steiner Syndrome
Wide nasal bridge, High palate, Low-set ears, Intrauterine growth retardation, Short nose ORPHA:319182
Ayme-Gripp Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairment, Wide nasal br... OMIM:601088
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Anteverted nares, Overfolded helix, Large fleshy ears, Microtia, Prominent tragus,... ORPHA:280633
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:123700
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Depressed nasal bridge, Underfolded helix, Overfolded helix, Prominent... OMIM:268400
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Intestinal fistula, Anal atresia, Anteverted nares, Depressed ... ORPHA:709
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Macrotia, Cupped ear, Protruding ear, Atrial s... OMIM:309500
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle ORPHA:314404
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Ventricular septal defect, Patent ductus arteriosus, Protruding ear, Aortic va... ORPHA:464306
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Intellectual Developmental Disorder, Autosomal Dominant 53
Microtia, Ventricular septal defect OMIM:617798
Teebi-Shaltout Syndrome
Small earlobe, Ventricular septal defect, Low-set ears, Hypoplastic helices, Aortic valve stenosis OMIM:272950
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hypogonadotropic hypogonadism, Microcephaly, Cryptorchidism, Split hand, Transver... OMIM:129900
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Situs inversus totalis, Hydroc... ORPHA:2461
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Short nose, Sensorineural hearing impairment ORPHA:2719
Arboleda-Tham Syndrome
Ventricular septal defect, Posteriorly rotated ears, Secundum atrial septal defect, Anteverted ea... OMIM:616268
Adams-Oliver Syndrome
Encephalocele, Microphthalmia ORPHA:974
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Abnormal cardiac septum morphology, ... ORPHA:209905
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Microlissencephaly-Micromelia Syndrome
Short nose ORPHA:50810
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Steatorrhea ORPHA:440713
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Vertigo, Aortopulmonary window, Abnormal hea... ORPHA:97214
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system OMIM:620185
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Protruding ear, Atria... ORPHA:904
Yunis-Varon Syndrome
Ventricular septal defect, Abnormal pinna morphology, Cardiomegaly, Hydrocephalus, Cardiomyopathy... ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Esophagitis, Short nose, Macrotia, Median cleft lip and palate ORPHA:3342
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Short nose, Anteverted nares, Hearing impairment ORPHA:3339
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Rectal prolapse, Wide nasal bridge, Na... OMIM:617157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... ORPHA:26793
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Bulbous nose, Cupped ear, Prot... OMIM:309590
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation OMIM:300868
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Cupped e... OMIM:181270
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Carpenter Syndrome 2
Posteriorly rotated ears, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Sensori... OMIM:614976
Knobloch Syndrome 1
Occipital encephalocele, Depressed nasal bridge, Pyloric stenosis, Bulbous nose, Occipital mening... OMIM:267750
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia OMIM:613451
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Leigh Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Optic atrophy, Hypertrophic cardiomy... ORPHA:506
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Short metacarpal, Coxa valga, Bilateral cryptorchidism, Avascular necrosis of the cap... OMIM:150230
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Optic atrophy, Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Trichothiodystrophy
Ventricular septal defect, Protruding ear, Cardiomyopathy, Bilateral sensorineural hearing impair... ORPHA:33364
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Optic disc coloboma, Ventricular septal defect, Low-set ears ORPHA:251014
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Pulmonic stenosis, Atrial sept... OMIM:607721
Aspartylglucosaminuria
Joint laxity, Kyphosis, Delayed skeletal maturation, Macroglossia, Platyspondyly, Mitral regurgit... OMIM:208400
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Ventricular septal defect, Low-set ears OMIM:609460
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... ORPHA:649
Degcags Syndrome
Anteverted nares, Prominent nasal bridge, Hearing impairment, Prominent nose, Posteriorly rotated... OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Protruding ear, Umbilical hernia, H... OMIM:620330
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Low-set ears OMIM:614653
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus OMIM:244400
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... ORPHA:231160
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short nose, Convex nasal ridge ORPHA:90154
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Sensorineural he... OMIM:194050
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Underdeveloped nasal alae, Pyloric st... ORPHA:268261
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Protr... ORPHA:363700
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Tbck-Related Intellectual Disability Syndrome
Sensorineural hearing impairment, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Proboscis Lateralis
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Optic disc coloboma,... ORPHA:141099
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Tetralogy of Fallot, Ventricular septal defect, Low-set ears OMIM:619525
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Depressed nasal bridge, Anteverted ... ORPHA:199
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Abnormal pinna morphology, L... ORPHA:79318
Isolated Exencephaly
Depressed nasal bridge, Holoprosencephaly, Low-set ears ORPHA:563612
1P21.3 Microdeletion Syndrome
Short nose, Long ear, Broad nasal tip ORPHA:293948
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Split hand, Transverse vaginal sep... OMIM:604292
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Abnormal brainstem morphology ORPHA:88619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, An... ORPHA:438213
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Papillorenal Syndrome
Microphthalmia OMIM:120330
Peroxisome Biogenesis Disorder 4B
Short nose, Sensorineural hearing impairment OMIM:614863
Toxic Epidermal Necrolysis
Polydipsia, Abnormal vagina morphology, Dysphagia ORPHA:537
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... ORPHA:370997
Cousin Syndrome
Hydranencephaly, Microphthalmia OMIM:260660
Isolated Arrhinia
Microphthalmia ORPHA:1134
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Hearing impairment OMIM:227645
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Prominent nasal tip, Short nose ORPHA:522077
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae OMIM:305100
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Posteriorly rotated ears, Sensorineural hearing impairment, Ventricula... OMIM:608670
Leprechaunism
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Increased circulating reni... ORPHA:508
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Geleophysic Dysplasia 1
Thickened helices, Short nose, Anteverted nares OMIM:231050
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Ventricular septal defect, Protruding ear ORPHA:1071
Molybdenum Cofactor Deficiency, Complementation Group B
Short nose OMIM:252160
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Molybdenum Cofactor Deficiency, Complementation Group A
Short nose OMIM:252150
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Microtia... OMIM:143095
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Anteverted nares, Broad nasal tip, Cupped ear, Cleft palate, S... ORPHA:363611
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Bilateral sensorineural hearing impairment, Profound hearing impairment OMIM:619418
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Patent ductus art... OMIM:268300
Sotos Syndrome
Ventricular septal defect, Aganglionic megacolon, Hearing impairment, Conductive hearing impairme... ORPHA:821
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli... ORPHA:79474
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia OMIM:124000
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Acromesomelic Dysplasia 1
Short nose OMIM:602875
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... ORPHA:466677
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Isolated Permanent Neonatal Diabetes Mellitus
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria ORPHA:99885
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Hypertension, Abnormal autonomic nervous system physiology, Hypote... ORPHA:93256
Geleophysic Dysplasia 2
Short nose OMIM:614185
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Natal tooth, Thin upper lip vermilion, Short stature, Abnormality of the dentiti... ORPHA:3455
Fanconi Anemia, Complementation Group D2
Microphthalmia OMIM:227646
Primary Sjögren Syndrome
Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abnormal spinal cord m... ORPHA:289390
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fraser Syndrome 2
Microphthalmia OMIM:617666
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Ulnar-Mammary Syndrome
Ventricular septal defect ORPHA:3138
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia OMIM:133540
Johanson-Blizzard Syndrome
Hypospadias, Septate vagina, Urethrovaginal fistula, Microcephaly, Cryptorchidism, Sensorineural ... OMIM:243800
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Wide nasal bridge, Hyperammonemia OMIM:220111
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia OMIM:620005
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Microphthalmia OMIM:620186
Mend Syndrome
Microphthalmia ORPHA:401973
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Roberts Syndrome
Microphthalmia ORPHA:3103
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Cockayne Syndrome
Microphthalmia ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Yunis-Varon Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Cupped ear, Protruding ear, Prominen... OMIM:216340
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Short nose, Tinnitus, Narrow nasal ridge OMIM:606721
Monosomy 13Q14
Microphthalmia ORPHA:1587
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Chronic Graft Versus Host Disease
Abnormal vagina morphology, Dysphagia, Anorexia, Phimosis ORPHA:99921
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anorexia, Oral-pharyngeal dysphagia, Vaginal stricture, Vaginal dryness ORPHA:95455
Holoprosencephaly 1
Microphthalmia OMIM:236100
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:113620
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780

Histopathology

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

There is no histopathology data for Vangl2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vangl2.

No publications found that use IMPC mice or data for Vangl2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vangl2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Vangl2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Vangl2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Vangl2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Vangl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Vangl2tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Vangl2tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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