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Gene: Tbx1 MGI:98493

Gene Summary

Name:

T-box 1

Synonyms:

nmf219

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Tbx1^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Tbx1^em1(IMPC)Mbp	HET	Early adult	1.34×10^-07
hyperactivity	Tbx1^em1(IMPC)Mbp	HET	Early adult	6.66×10^-05
abnormal placenta morphology	Tbx1^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Tbx1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal blood vessel morphology	Tbx1^em1(IMPC)Mbp	HOM	E15.5	0.00
anophthalmia	Tbx1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Tbx1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal blood vessel morphology	Tbx1^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Tbx1^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Tbx1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Tbx1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Tbx1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal pancreas morphology	Tbx1^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Gross Morphology Embryo E14.5-E15.5

Images

20 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Human diseases caused by Tbx1 mutations

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

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

Human diseases associated with Tbx1 (7 diseases)
Human diseases predicted to be associated with Tbx1 (2871 diseases)

The table below shows human diseases associated to Tbx1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:192430
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Transposition of the great arteries, Scoliosis	ORPHA:1727
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thym...	ORPHA:567
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat...	OMIM:188400
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Tetralogy Of Fallot	Cryptorchidism, Thin vermilion border, Tetralogy of Fallot	ORPHA:3303

The table below shows human diseases predicted to be associated to Tbx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp...	OMIM:231060
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Coronary Artery Dissection, Spontaneous	Cystic medial necrosis, Coronary artery dissection	OMIM:122455
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Cleft palate, Conotruncal defect, Anotia, Microtia	OMIM:243440
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio...	ORPHA:2306
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Branchiootic Syndrome	Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t...	ORPHA:52429
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud...	OMIM:113650
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Lethal Congenital Contracture Syndrome 3	Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co...	OMIM:611369
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:192430
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Posteriorly rotated ears, Short neck, Micrognathia, Dyspnea, Gingival fibro...	ORPHA:1832
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Decreased fetal movement, Posteriorly rotated ears, Polyhydramnios, Short neck,...	OMIM:618393
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid...	OMIM:617616
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hemivertebrae, Contracture of the proximal...	OMIM:618223
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Shor...	OMIM:615583
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o...	ORPHA:3426
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Patent du...	ORPHA:3338
Warsaw Breakage Syndrome	Ventricular septal defect, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Wide mouth...	OMIM:613398
You-Hoover-Fong Syndrome	Kyphoscoliosis, Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Doubl...	OMIM:616954
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Micrognathia, Short neck, Cleft pala...	ORPHA:2015
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Pre...	OMIM:609029
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Micrognathia, Kyphosis, Cryptorchidism, Fetal akinesia sequence, Respiratory insuffic...	OMIM:611890
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment	OMIM:251800
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Marcus-Gunn Syndrome	Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate, Abnorm...	ORPHA:91412
Chromosome 22Q11.2 Deletion Syndrome, Distal	Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate	OMIM:611867
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Emanuel Syndrome	Redundant neck skin, Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Coug...	ORPHA:96170
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Retrognathia, Cleft palate, An...	OMIM:616462
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Polyhydramnios, Micrognathia, Downturned corners of mouth, At...	OMIM:620186
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal antihelix morp...	ORPHA:79113
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Limit...	OMIM:184460
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ...	ORPHA:268249
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Anomalous origin of left coronary artery from the pulmonary arte...	OMIM:618845
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Maternal Uniparental Disomy Of Chromosome 9	Decreased fetal movement, Kyphoscoliosis, Short neck, Micrognathia, Congenital hypothyroidism, Pa...	ORPHA:96183
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Galactosialidosis	Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Schwannomatosis 1	Vestibular schwannoma, Peripheral schwannoma	OMIM:162091
Parastremmatic Dwarfism	Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Hypothyroidism, Hearing impairment	OMIM:617577
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H...	OMIM:613717
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ...	ORPHA:2516
Lipedema	Edema	OMIM:614103
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia	OMIM:618254
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Abnormal cranial nerve morp...	ORPHA:90024
Burning Mouth Syndrome	Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Abnormality ...	ORPHA:353253
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor...	OMIM:617478
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Otofaciocervical Syndrome 1	Mixed hearing impairment, Long neck, Hypoplasia of the cochlea, Cupped ear, Conductive hearing im...	OMIM:166780
Mullegama-Klein-Martinez Syndrome	Facial palsy, Micrognathia, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of...	OMIM:301022
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abno...	OMIM:179613
Monosomy 22	Low-set, posteriorly rotated ears, Aplasia of the thymus, Short neck, Hypochromic microcytic anem...	ORPHA:96123
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,...	OMIM:614701
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Irregular vertebral endplates, Platys...	OMIM:609223
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ...	OMIM:185800
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet...	OMIM:271530
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short n...	OMIM:617022
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte...	ORPHA:401935
Syngnathia	Cleft palate	OMIM:119550
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Decreased fetal movement, Polyhydramnios, Micrognathia, Short neck, Cryptorchid...	OMIM:618766
Phaver Syndrome	Posteriorly rotated ears, Ventricular septal defect, Myelomeningocele, Aplasia/Hypoplasia of the ...	ORPHA:2876
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph...	OMIM:602450
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle...	ORPHA:163665
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr...	OMIM:616583
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate	OMIM:261800
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Short neck, Cardiomegaly, Micrognathia, Hydrops fetalis, Large fleshy ears, Short...	OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 66	Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Camptodactyly of finger, Short neck, Cryptorchidism, Increased nuch...	OMIM:619110
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Cleft palate, ...	OMIM:615502
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ...	ORPHA:83463
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla...	OMIM:220210
Trisomy 4P	Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Carious teeth, Cryptorchi...	ORPHA:1738
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea...	OMIM:608257
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Tick-Borne Encephalitis	Stiff neck, Facial palsy, Hearing impairment, Vertigo, Abnormal glossopharyngeal nerve morphology...	ORPHA:297
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir...	ORPHA:2554
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Oculoauriculovertebral Spectrum With Radial Defects	Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abno...	ORPHA:2549
Glossopharyngeal Neuralgia	Ear pain, Cranial nerve compression, Schwannoma, Abnormal palate morphology, Abnormal glossophary...	ORPHA:221098
Trisomy 13	Atrial septal defect, Median cleft lip, Ventricular septal defect, Abnormality of the dentition, ...	ORPHA:3378
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Micrognathia, Cryptorchidism...	ORPHA:1131
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Pierre-Robin sequence, Anter...	OMIM:617877
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Stiff neck, Myelopathy, Vertigo, Cranial nerve compressi...	ORPHA:268882
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
7Q31 Microdeletion Syndrome	Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Hypoplasia of the semicircular...	ORPHA:251061
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, P...	ORPHA:3304
Aorta Coarctation	Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of...	ORPHA:1457
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Short neck, Micrognathia, Crypt...	ORPHA:1865
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Monosomy 5P	Low-set, posteriorly rotated ears, Microretrognathia, Short neck, Small hand, High palate, Scolio...	ORPHA:281
Acrocardiofacial Syndrome	Joint dislocation, Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect,...	ORPHA:2008
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Sacral dimple, Premature birth, Short neck, Abnormality of the...	ORPHA:2487
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal optic disc morphology, Low-set ears...	OMIM:617516
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Noonan Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Abnormal pulmonary valve morpholog...	ORPHA:648
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Cleft lip, Cleft...	OMIM:616898
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Transposition of the great arteries, Scoliosis	ORPHA:1727
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae,...	OMIM:230650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec...	ORPHA:453499
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Microphthalmia, Syndromic 9	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left atrium, Mul...	OMIM:601186
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Hypoplasia of the pharynx...	OMIM:154500
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Intestina...	OMIM:619657
Spastic Paraplegia 18B, Autosomal Recessive	Ankle clonus, Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Sandestig-Stefanova Syndrome	Short neck, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septa...	OMIM:618804
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Sacral dimple, Craniosynostosis, Short neck, Micrognathia, Patent ductus arteriosus, Short philtr...	ORPHA:1516
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Coxoauricular Syndrome	Microtia, Hearing impairment	OMIM:122780
Spondyloepiphyseal Dysplasia, Kimberley Type	Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Protruding ear, Tooth agen...	ORPHA:1166
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies, Accelerated...	ORPHA:1354
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres...	ORPHA:3236
Ravine Syndrome	Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Ankle flexion c...	ORPHA:435938
Meacham Syndrome	Accessory spleen, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardi...	OMIM:608978
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Bilateral Polymicrogyria	4-layered lissencephaly, Sensorineural hearing impairment, Perisylvian polymicrogyria, Wide mouth...	ORPHA:268940
Schizophrenia 15	Hyperactivity	OMIM:613950
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Short palm, Patent foramen ovale, Widely patent sagittal suture, Pos...	OMIM:228520
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral...	OMIM:617992
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Con...	ORPHA:861
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Nemaline Myopathy 9	High palate, Polyhydramnios, Ventricular septal defect, Cleft palate	OMIM:615731
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Splenomegaly, ...	ORPHA:61
Acitretin/Etretinate Embryopathy	Cupped ear, Conotruncal defect, Microtia, High palate, Bilateral sensorineural hearing impairment...	ORPHA:40366
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Achondrogenesis, Type Ib	Edema, Polyhydramnios, Micromelia, Breech presentation, Hydrops fetalis, Respiratory insufficienc...	OMIM:600972
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Low-set ears, Pulmoni...	OMIM:618205
Mosaic Trisomy 9	Polyhydramnios, Short neck, Micrognathia, Asplenia, Micromelia, Hemivertebrae, Hydrops fetalis, H...	ORPHA:99776
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly...	ORPHA:1388
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Verloove Vanhorick-Brubakk Syndrome	Cryptorchidism, Non-midline cleft lip, Abnormality of the parathyroid gland, Cleft palate, Microt...	ORPHA:3429
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchid...	ORPHA:1703
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter...	ORPHA:860
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Pierpont Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Uplifted earlobe, Short neck, Cryptorchidism,...	ORPHA:487825
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Atrial septal defect, Branchial fistula, Premature birth, Hyperl...	ORPHA:261330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Lateral Meningocele Syndrome	Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo...	ORPHA:2789
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal...	OMIM:617519
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Micrognath...	ORPHA:261120
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Posteriorly rotated ears, Underfolded helix, Parachute mitral valve, Ve...	OMIM:618316
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Low poster...	ORPHA:2345
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t...	OMIM:601927
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Cupped ear, Protruding ear,...	OMIM:618619
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Vestibular schwannoma, Decreased compound muscle action potential amplitude	OMIM:613641
Charge Syndrome	Secundum atrial septal defect, Holoprosencephaly, Pulmonary artery atresia, Atrial septal defect,...	OMIM:214800
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Short neck, High, ...	OMIM:158170
Combined Oxidative Phosphorylation Deficiency 45	High palate, Low-set ears, Short neck	OMIM:618951
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Achondrogenesis	Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Micromelia, Hydrops fetalis...	ORPHA:932
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re...	OMIM:609425
Craniofacial Microsomia 1	Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conductive hearing impairment, Du...	OMIM:164210
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hy...	ORPHA:87
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Microtia, Abnormal ...	ORPHA:1926
Distal Deletion 10P	Low-set, posteriorly rotated ears, Short neck, Micrognathia, Hearing abnormality, Cryptorchidism,...	ORPHA:1580
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery f...	ORPHA:2326
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Chondrodysplasia, Blomstrand Type	Premature birth, Polyhydramnios, Micrognathia, Fetal ascites, Micromelia, Advanced ossification o...	OMIM:215045
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Cofs Syndrome	Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Short neck, Sen...	ORPHA:1466
Achondrogenesis Type 1B	Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Micromelia, Hydrops fetalis...	ORPHA:93298
Achondrogenesis Type 1A	Thickened nuchal skin fold, Short palm, Polyhydramnios, Micrognathia, Short neck, Micromelia, Hyd...	ORPHA:93299
Omphalocele Syndrome, Shprintzen-Goldberg Type	Hypoplasia of the pharynx, Anteroposteriorly shortened larynx, Laryngeal hypoplasia, Webbed neck	ORPHA:3164
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms, Jerky head movements	ORPHA:98807
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente...	OMIM:235510
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Abnormal odontoid process morphology, Block verteb...	OMIM:613686
Epiphyseal Dysplasia, Multiple, 7	Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge...	OMIM:617719
Sialidosis Type 2	Splenomegaly, Kyphosis, Dyspnea, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites, Hearing...	ORPHA:87876
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Ventricular septal defect, Short neck, Cleft upper lip, Sensorineural ...	OMIM:214300
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Micrognathia, High, narrow palate, Limited elbow flexi...	ORPHA:166108
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Abnormality of the dentition, Carious teeth, Patent ductus arteriosus, Velophary...	ORPHA:363444
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Necrotizing enterocolitis, Death in infancy, Polyhydramnios, Short neck, Echogen...	OMIM:616809
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Wildervanck Syndrome	Fused cervical vertebrae, Webbed neck	OMIM:314600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Low posterior hairli...	OMIM:616549
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Microtia	OMIM:612138
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Deep philtrum, Wid...	OMIM:619717
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of...	OMIM:617974
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Micrognathia, Hydrops fetalis, Knee flexion contracture, Downturned corners of mouth,...	OMIM:265000
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
Acrofacial Dysostosis, Palagonia Type	Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Supernumerary tooth, Sma...	ORPHA:1787
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Recurrent hand flapping, Posteriorly rotated ears, Low-set ears	OMIM:618147
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Lateral Meningocele Syndrome	Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, High palate, Conductive hearing...	OMIM:130720
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Micromelia, Short neck, Increased inte...	OMIM:256050
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th...	ORPHA:949
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Decreased fetal movement, Sacral dimple, Congenital hip dislocation, Abnormal pinn...	OMIM:618291
Congenital Disorder Of Glycosylation, Type Ik	Death in infancy, Nonimmune hydrops fetalis, Micrognathia, Splenomegaly, Cardiomyopathy, Thin ver...	OMIM:608540
Shprintzen Omphalocele Syndrome	Hypoplasia of the pharynx, Anteroposteriorly shortened larynx, Laryngeal hypoplasia, Webbed neck	OMIM:182210
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Igg4-Related Aortitis	Low back pain, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta...	ORPHA:449400
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Microretrognathia, Camptodactyly of finger, Short neck, Abnorm...	ORPHA:2994
Pierpont Syndrome	Posteriorly rotated ears, Short neck, Cryptorchidism, Short toe, Large fleshy ears, Broad philtru...	OMIM:602342
Congenital Muscular Dystrophy, Ullrich Type	Decreased fetal movement, Torticollis, Spinal rigidity, Short neck, Kyphosis, Micrognathia, Hip d...	ORPHA:75840
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Halperin-Birk Syndrome	Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, High palate...	OMIM:618651
Lymphatic Malformation 6	Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Atrial septal d...	OMIM:616843
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Congenital Disorder Of Glycosylation, Type Ih	Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing en...	OMIM:608104
Congenital Disorder Of Glycosylation, Type In	Sensorineural hearing impairment, Micrognathia, Respiratory insufficiency, Short neck	OMIM:612015
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm...	ORPHA:1110
Vacterl With Hydrocephalus	Microtia, third degree, Micrognathia, Esophageal atresia, Cryptorchidism, Hemivertebrae, Tracheoe...	ORPHA:3412
Zechi-Ceide Syndrome	Mandibular prognathia, Atrial septal defect, Cleft lip, Abnormal earlobe morphology, Cleft palate...	ORPHA:217017
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thym...	ORPHA:567
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Adams-Oliver Syndrome 6	Splenomegaly, Truncus arteriosus, Esophageal varix, Ventricular septal defect	OMIM:616589
Trisomy 1Q	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Cryptorchi...	ORPHA:261344
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Posteriorly rotated ears, Short neck, Micrognathia, Wide anterior fontan...	OMIM:614541
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad...	ORPHA:83471
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat...	OMIM:188400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding ear, Downtu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding ear, Downtu...	ORPHA:352665
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Monosomy 9P	Congenital diaphragmatic hernia, Abnormality of the dentition, Narrow mouth, Cryptorchidism, Clef...	ORPHA:261112
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Microtia, Scoliosis, Narrow mou...	ORPHA:398156
Gaucher Disease, Type Ii	Death in infancy, Double aortic arch, Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Co...	OMIM:230900
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Rubinstein-Taybi Syndrome 2	Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental...	OMIM:613684
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Death in infancy, Pancytopenia, Decreased fetal movement, Feta...	ORPHA:85212
Distal Deletion 10Q	Smooth philtrum, Thin upper lip vermilion, Abnormal morphology of the vestibule of the inner ear,...	ORPHA:96148
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm...	ORPHA:1913
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti...	OMIM:618718
Gombo Syndrome	Microphthalmia	OMIM:233270
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St...	OMIM:612290
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Respiratory insufficiency, High pal...	ORPHA:178148
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Central apnea, Camptodactyly of finger, Short neck, Cleft pala...	ORPHA:1617
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Aarskog-Scott Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Short palm, Genu recurvatum, Campto...	ORPHA:915
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle...	OMIM:600561
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Posteriorly rotated ears, Short neck, Microcytic anemia, Deep philtrum, As...	OMIM:619750
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Self-injurious behavior, Aggressive behavior	ORPHA:382
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Microtia, Intestinal lymphangiectasia, ...	OMIM:616006
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Monosomy 18P	Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Lymphedema, Cleft palate, Low posterior ...	ORPHA:1598
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Peg-s...	OMIM:610706
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor...	OMIM:277950
Meier-Gorlin Syndrome 8	Bilateral cryptorchidism, Microtia, Low-set ears	OMIM:617564
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ...	OMIM:618761
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Craniosynostosis, Micrognathia, Midgut malrotation, High, narr...	ORPHA:2409
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Sprengel Deformity	Torticollis, Cleft palate, Short neck	ORPHA:3181
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Diaphanospondylodysostosis	Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb...	ORPHA:66637
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormality of ...	ORPHA:2759
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Legius Syndrome	Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Low posterior hairline, ...	OMIM:611431
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Sacral dimple, Short neck, Micrognathia, Bilateral cryptorchidism, High...	OMIM:613544
Pseudodiastrophic Dysplasia	Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis	ORPHA:85174
Ring Chromosome 6 Syndrome	Short neck, Respiratory insufficiency, Low posterior hairline, Macrotia, Short distal phalanx of ...	ORPHA:1448
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Distal 22Q11.2 Microduplication Syndrome	Smooth philtrum, Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic di...	ORPHA:261337
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Limited sh...	OMIM:203500
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi...	OMIM:617926
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anemia, Anotia, Microt...	OMIM:614083
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, Micrognathia, Microtia, High palate, Joint contracture of the 5th finger,...	OMIM:248910
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho...	ORPHA:2332
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Death in infancy, Thin upper lip vermilion, Tented upper lip vermilion, Po...	OMIM:618622
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Phenobarbital Embryopathy	Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal mitral valve morphology, Tetr...	ORPHA:1919
Gm1 Gangliosidosis	Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumon...	ORPHA:354
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxil...	OMIM:180849
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly...	ORPHA:2619
Hennekam Syndrome	Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ...	ORPHA:2136
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/...	ORPHA:1597
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Coarctation of aorta	OMIM:601612
Atelis Syndrome 1	Glue ear, Ventricular septal defect, Thrombocytopenia, Leukopenia, Microtia, Atrial septal defect...	OMIM:620184
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-...	OMIM:609654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Thoracic scoliosis, Vascular ring	OMIM:603387
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel, ...	ORPHA:3098
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal	OMIM:221320
Morquio Syndrome C	Platyspondyly	OMIM:252300
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of...	OMIM:113000
Holoprosencephaly	Short neck, Abnormality of the spleen, Deep philtrum, Abnormal form of the vertebral bodies, Ence...	ORPHA:2162
Platyspondylic Dysplasia, Torrance Type	Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morphology, Hydrops fetalis, Cl...	ORPHA:85166
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl...	OMIM:301043
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos...	ORPHA:508488
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Pyle Disease	Delayed eruption of teeth, Persistence of primary teeth, Reduced bone mineral density, Genu valgu...	OMIM:265900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Atrial sep...	OMIM:265380
Nuchal Bleb, Familial	Stillbirth, Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Macrotia, Stereotypical hand wringing	ORPHA:397933
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Decreased fetal movement, Camptodactyly of finger, Cleft palate, Respirator...	OMIM:614399
Xia-Gibbs Syndrome	Uplifted earlobe, Protruding ear, Low-set ears, Laryngomalacia, Small earlobe	OMIM:615829
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Protruding ear, Round ...	ORPHA:1147
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Sandhoff Disease	Kyphosis, Cherry red spot of the macula	ORPHA:796
Zimmermann-Laband Syndrome	Short neck, Micrognathia, Splenomegaly, Sensorineural hearing impairment, Supernumerary tooth, Gi...	ORPHA:3473
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,...	OMIM:616652
Combined Oxidative Phosphorylation Deficiency 47	Short palm, Posteriorly rotated ears, Short neck, Cryptorchidism, Sensorineural hearing impairmen...	OMIM:618958
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Ab...	ORPHA:3082
Distal Duplication 18Q	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Abnormal dental morphology, Campto...	ORPHA:1716
Whistling Face Syndrome, Recessive Form	Kyphoscoliosis, Short neck, Micrognathia, Trismus, Whistling appearance, Elbow flexion contractur...	OMIM:277720
Hadziselimovic Syndrome	Ventricular hypertrophy, Posteriorly rotated ears, Ventricular septal defect, Thick lower lip ver...	OMIM:612946
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Central retinal vessel vascular tortuosity, Tachypnea, Protruding ear, High ...	ORPHA:2751
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Hydrops fetalis, Large fleshy ears, Right ventricular ...	ORPHA:79328
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Cupped ear, Hypoplastic aortic arch,...	OMIM:614846
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Fetal Minoxidil Syndrome	Low-set, posteriorly rotated ears, Umbilical hernia, Ventricular septal defect, Cryptorchidism	ORPHA:1918
Gordon Syndrome	Decreased muscle mass, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Hearin...	ORPHA:376
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Decreased response to growth hormone stimulation tes...	ORPHA:2980
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Webbed neck, ...	OMIM:244600
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra...	OMIM:610967
Gm1-Gangliosidosis, Type I	Death in infancy, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Dilated ca...	OMIM:230500
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene...	ORPHA:750
Weaver-Williams Syndrome	Protruding ear, Cleft palate, Narrow mouth	ORPHA:3448
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp...	ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Carpenter Syndrome 1	Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Conductiv...	OMIM:201000
Cornelia De Lange Syndrome 5	Short neck, Micrognathia, Cryptorchidism, Small hand, Cleft palate, Downturned corners of mouth, ...	OMIM:300882
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Apl...	OMIM:102700
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi...	OMIM:313420
Ehlers-Danlos Syndrome, Classic-Like, 2	Thoracic scoliosis, Prominent superficial veins, Carotid artery stenosis, Short neck, Micrognathi...	OMIM:618000
Paternal Uniparental Disomy Of Chromosome X	Low-set, posteriorly rotated ears, Short metacarpal, Short neck, Low posterior hairline, Cubitus ...	ORPHA:261524
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Stapes ankylosis, Papilledema, Prominent metopic ridge, Mandibular pro...	OMIM:614188
Wildervanck Syndrome	Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Webbed neck	ORPHA:3456
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Premature birth, Rhizomelia, Polyhydramnios, Protruding tongue, Mi...	ORPHA:50945
Wieacker-Wolff Syndrome	Decreased fetal movement, Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphos...	OMIM:314580
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly, Genu valgum	OMIM:609324
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Sacral dimple, Abnormal pinna morphology, Ventricular septal defect, Sh...	OMIM:617452
8P23.1 Duplication Syndrome	Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic stenosis, Long...	ORPHA:251076
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Short neck, Micrognathia, Kyphosis, Membranous subvalvular aor...	ORPHA:3191
Mmep Syndrome	Cryptorchidism, Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Edema, Polyhydramnios, Hydrops fetalis, ...	OMIM:200610
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Abnormal pinna morphology, Ven...	ORPHA:477817
Greenberg Dysplasia	Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Micromelia, Hydrops fetalis, Tetraphocom...	OMIM:215140
Mucopolysaccharidosis, Type Vii	Short neck, Thoracolumbar kyphosis, Hydrops fetalis, Widely spaced teeth, Anterior beaking of lum...	OMIM:253220
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m...	ORPHA:3405
Urban-Rogers-Meyer Syndrome	Short neck, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Hypogonadism, Overfolded helix	ORPHA:3409
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Respiratory distress, Posteriorly rotated ears, Dental crowd...	OMIM:614669
Acrocephalopolydactyly	Genu recurvatum, Short neck, Hepatosplenomegaly, Microtia, Limb undergrowth, Cystic hygroma	ORPHA:221054
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro...	ORPHA:295
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ...	OMIM:141400
Distal Duplication 6P	Abnormal antitragus morphology, Aplasia/Hypoplasia of the earlobes, Low-set ears, Short neck	ORPHA:1745
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Microcytic anemia, Short neck, Cryptorchidism, Aplasia/Hypopla...	ORPHA:98791
Ring Chromosome 14 Syndrome	High palate, Low-set ears, Short neck	OMIM:616606
Mohr Syndrome	Short palm, Wormian bones, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of...	OMIM:252100
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Elbow dislocation,...	ORPHA:2916
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Small earlobe, Tented upper lip vermilion, Exaggerated cupid's bow, Abno...	ORPHA:364577
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Short neck, Wide anterior fontanel, Patent ductus arteri...	OMIM:606003
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul...	ORPHA:229
German Syndrome	Camptodactyly of finger, Short neck, Micrognathia, Hearing abnormality, Cryptorchidism, Lymphedem...	ORPHA:2077
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Protrud...	OMIM:616788
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Rhizomelia, Micrognathia, Short neck, Downturned corners of mouth, Pla...	ORPHA:93267
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Knee flexion contracture, Downturned c...	OMIM:300868
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormality of t...	ORPHA:1159
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Braddock Syndrome	Congenital muscular torticollis, Neonatal respiratory distress, Posteriorly rotated ears, Short n...	ORPHA:52047
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Lop ear...	OMIM:300472
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava draining directly to the ...	OMIM:613759
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Posteriorly rotated ears, Polyhydramnios, Short neck, Micrognathia, W...	OMIM:263210
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Short neck, Low posterior hairline, Limited neck range of motion...	OMIM:118100
Neuropathy, Congenital Hypomyelinating, 3	Decreased fetal movement, Polyhydramnios, Micrognathia, Gingival overgrowth, Narrow palate, Respi...	OMIM:618186
Mulibrey Nanism	Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocc...	OMIM:253250
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal heart morphology, Coarctati...	ORPHA:2209
Microtriplication 11Q24.1	Attached earlobe, Joint dislocation, Posteriorly rotated ears, Short neck, Small hand, Cleft pala...	ORPHA:289522
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Hearin...	OMIM:616081
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal atrial arrangement, Situs inversus totalis, Asplenia, Anomalous ...	ORPHA:244
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Cleft upper lip, Cleft palate, Abnormal heart morphology, Microtia, Atresia of the ...	OMIM:239800
Nablus Mask-Like Facial Syndrome	Posteriorly rotated ears, Short neck, Cryptorchidism, Overfolded helix, Hypoplastic nipples, Low-...	OMIM:608156
17P13.3 Microduplication Syndrome	Congenital hip dislocation, Short neck, High palate, Low-set ears, Narrow mouth	ORPHA:217385
Fetal Akinesia Deformation Sequence 2	Decreased fetal movement, Tented upper lip vermilion, Micrognathia, Fetal akinesia sequence, Cryp...	OMIM:618388
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
King-Denborough Syndrome	Decreased fetal movement, Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short ...	OMIM:619542
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thora...	ORPHA:508498
Chromosome 5Q12 Deletion Syndrome	Sacral dimple, Posteriorly rotated ears, Ventricular septal defect, Short neck, Micrognathia, Inc...	OMIM:615668
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Spinal Muscular Atrophy, Type I	Decreased fetal movement, Ventricular septal defect, Respiratory insufficiency, Respiratory failu...	OMIM:253300
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankle, Atresia of ...	ORPHA:2010
48,Xyyy Syndrome	Short neck, Asthma, Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, P...	ORPHA:99329
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Trismus, Dyspnea, Elbow flex...	OMIM:272430
Schinzel-Giedion Syndrome	Respiratory distress, Short neck, Micrognathia, Abnormality of the gingiva, Anteriorly placed anu...	ORPHA:798
Diprosopus	External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac sep...	ORPHA:1681
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Polyhydramnios, Short neck, Nonimmune hydrops fetal...	OMIM:269250
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Asplenia, Stillbirth, Aortic valve stenosis, Pulmonic...	OMIM:615415
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermilion, Genu valg...	OMIM:300602
Focal Facial Dermal Dysplasia Type Ii	Abnormal pinna morphology, Lop ear, Low-set ears, Small earlobe, Absent earlobe	ORPHA:398173
Johnson Neuroectodermal Syndrome	Protruding ear, Microtia, Hypogonadism, Atresia of the external auditory canal, Conductive hearin...	ORPHA:2316
Lethal Kniest-Like Dysplasia	Edema, Short neck, Polyhydramnios, Wide anterior fontanel, Breech presentation, Abnormal cartilag...	ORPHA:2347
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost...	OMIM:178110
3C Syndrome	Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft...	ORPHA:7
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Charge Syndrome	Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Low-set, posteriorl...	ORPHA:138
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Polyhydram...	OMIM:620369
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Micrognathia, Short neck, Diastema, Dental malocclusion, Low-set ears, Malar fl...	ORPHA:436245
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Congenital bilateral hip dislocation	ORPHA:85288
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Kyphosis, Cryptorchidism, Narrow palate...	ORPHA:364028
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Abnormal pulmonary valve morphology, Cryptorchidism, W...	ORPHA:1194
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Short mandibu...	OMIM:141300
8Q22.1 Microdeletion Syndrome	Underfolded helix, Abnormal pinna morphology, Craniosynostosis, Short neck, Camptodactyly of fing...	ORPHA:178303
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Trisomy 17P	Prominent metopic ridge, Short neck, Micrognathia, Narrow mouth, Patent ductus arteriosus, Cleft ...	ORPHA:261290
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen...	ORPHA:52055
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements	ORPHA:71518
Heart And Brain Malformation Syndrome	Attached earlobe, Prominent metopic ridge, Ventricular septal defect, Posteriorly rotated ears, C...	OMIM:616920
Thomas Syndrome	Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip	ORPHA:3316
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Low-set ears, Chron...	ORPHA:276422
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat...	OMIM:300717
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Secundum atrial septal defect, Optic disc coloboma, H...	ORPHA:2260
Diamond-Blackfan Anemia 10	Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:613309
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At...	OMIM:306955
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Micromelia, Short neck, Cardiomegaly, Deep philtrum, Tachypnea, Flat acetabular...	OMIM:613320
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Abnormal pinna morphology, Short neck, Orofacial cleft, Wide mouth, Lon...	OMIM:614583
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Br...	ORPHA:2036
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing i...	OMIM:612938
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Atresia of the external auditory canal, Hearing impairment	ORPHA:3023
Auriculoosteodysplasia	Attached earlobe, Macrotia, Aplasia/Hypoplasia of the earlobes	ORPHA:114
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Microtia	ORPHA:2547
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Camptodactyly of finger, Supernumerary nipple, Non-midline cle...	ORPHA:246
Distal Monosomy 7Q36	Micrognathia, Short neck, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mouth, Macrotia	ORPHA:1636
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Macroorchidism...	ORPHA:1193
Gm1 Gangliosidosis Type 1	Gingival overgrowth, Hydrops fetalis, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglos...	ORPHA:79255
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Abnorma...	ORPHA:3319
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p...	OMIM:611209
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Hyp...	OMIM:253000
Cranioectodermal Dysplasia 2	Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Fused teeth, High palate, Widely space...	OMIM:613610
Hyperekplexia 4	Umbilical hernia, Respiratory failure, High palate, Kyphoscoliosis	OMIM:618011
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Spina bifida	ORPHA:1104
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Microtia...	OMIM:300946
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip, Low-set ears, Short neck	OMIM:616994
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:615524
Noonan Syndrome 13	Short neck, Micrognathia, Lymphedema, High palate, Widely spaced teeth, Atrial septal defect, Mic...	OMIM:619087
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Polyhydramnios, Short neck, Micrognathia, Lymphedema, High palate, Protein-l...	OMIM:235255
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Ventricular septal defect, Protruding tongue, Absent frontal sinuses, D...	OMIM:301040
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Posteriorly rotated ears, Ventricular septal defect, Craniosynostosis, Cryptorchidism, Thrombocyt...	OMIM:301056
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Wilson-Turner Syndrome	Cryptorchidism, Microtia, Hypogonadotropic hypogonadism, Uplifted earlobe	ORPHA:3459
Benign Schwannoma	Intestinal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwanno...	ORPHA:252164
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Hyperlordosis, Micrognathia, High, narrow pa...	ORPHA:2780
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Abnormal pinna morpholo...	OMIM:217980
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Uplifted earlobe, ...	OMIM:619841
Otoonychoperoneal Syndrome	Underfolded helix, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal he...	ORPHA:2793
Trisomy 12P	Thickened nuchal skin fold, Supernumerary nipple, Short neck, Micrognathia, Cleft palate, Downtur...	ORPHA:1699
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, High, narrow palate, Cryptorchidism, Meningocele, Aplasia/H...	ORPHA:2879
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Marden-Walker Syndrome	Dextrocardia, Short neck, Micrognathia, Kyphosis, High, narrow palate, Pyloric stenosis, Wide ant...	OMIM:248700
1Q21.1 Microdeletion Syndrome	Joint hyperflexibility, Patent ductus arteriosus, Interrupted aortic arch, Scoliosis	ORPHA:250989
Even-Plus Syndrome	Short neck, Vertebral clefting, Coronal cleft vertebrae, Microtia, High palate, Hypodontia, Atria...	OMIM:616854
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Oti...	OMIM:612541
Infantile Sialic Acid Storage Disease	Premature birth, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, Hydrops...	OMIM:269920
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ...	OMIM:134780
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Anteriorly placed anus, Glossoptosis, H...	OMIM:117650
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
6P22 Microdeletion Syndrome	Short neck, Patent ductus arteriosus, Low-set ears, Overfolded helix, Abnormal palate morphology,...	ORPHA:251046
Nanophthalmos	Microphthalmia	ORPHA:35612
Intermediate Nemaline Myopathy	Decreased fetal movement, Premature birth, Polyhydramnios, High, narrow palate, Cardiomyopathy, R...	ORPHA:171433
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Otitis media,...	ORPHA:353281
Achondrogenesis, Type Ia	Hypoplastic sacrum, Hypoplastic scapulae, Polyhydramnios, Protruding tongue, Short neck, Micromel...	OMIM:200600
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
20P12.3 Microdeletion Syndrome	Thickened helices, Atrial septal defect, Microtia	ORPHA:261295
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Deep philtru...	OMIM:255800
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Short neck, Cryptorchidism, R...	ORPHA:505237
Thalidomide Embryopathy	Anotia, Abnormality of the outer ear, Hearing impairment	ORPHA:3312
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Posteriorly rotated ears, Polyhydramnios, Short neck, Fetal a...	OMIM:301041
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od...	OMIM:264180
Distal Deletion 9P	Low-set, posteriorly rotated ears, Short neck, Aplasia/Hypoplasia of the earlobes, Abnormal antih...	ORPHA:1642
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi...	ORPHA:2863
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Micrognathia, Narrow mouth, Retrognathia, Narrow palate, Hypoplasia of teeth, Wide mo...	OMIM:620250
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur...	OMIM:601808
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Ventricular septal defect, Dilated cardiomyopathy, Abnormality of the outer ear	ORPHA:2515
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Secondary hyperparathyroidism	ORPHA:140286
Cri-Du-Chat Syndrome	Microretrognathia, Short metacarpal, Abnormal pinna morphology, Short neck, Cryptorchidism, Thick...	OMIM:123450
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Nanophthalmos 4	Microphthalmia	OMIM:615972
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea, Kyphoscoliosis, Short neck, Micrognathia, Small hand, High palate, Scoliosis, Macroorchidi...	OMIM:300055
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Ovoid vertebral bodies, Short neck, Micrognathia, Wide anterior fontanel, Abnormality of the elbo...	ORPHA:163649
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Short neck, Micrognathia, H...	OMIM:261540
Congenital Myopathy 14	Hip contracture, Death in infancy, Decreased fetal movement, Apnea, Polyhydramnios, Respiratory i...	OMIM:618414
Coxoauricular Syndrome	Microtia, Hip dislocation, Atresia of the external auditory canal, Hearing impairment	ORPHA:1508
Li-Campeau Syndrome	Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Cryptorchidism, Patellar hyp...	OMIM:619189
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Short neck, Micrognathia, High, narrow palate, Fetal akinesia sequence, High pala...	OMIM:208150
3-Hydroxyisobutyric Aciduria	Microtia, Hypogonadotropic hypogonadism	ORPHA:939
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Dental malocclusion, ...	OMIM:619719
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2311
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Arboleda-Tham Syndrome	Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Anteverted ears, Secun...	OMIM:616268
Trisomy 8P	Short fourth metatarsal, Abnormal atrioventricular connection, Short neck, Fetal pyelectasis, Apl...	ORPHA:264450
Pontocerebellar Hypoplasia, Type 1D	Decreased fetal movement, Short neck, Respiratory insufficiency, High palate, Tongue fasciculatio...	OMIM:618065
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Precocious puberty, Sensorineural hearing impairment, Apla...	ORPHA:2637
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Platyspondyly, Osteoarthritis	OMIM:271600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Posteriorly rotated ears, Underfolded helix, Short neck, Abnormal circulating osteocalcin level, ...	ORPHA:93315
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears	OMIM:608363
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p...	OMIM:619941
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Multiple Synostoses Syndrome 4	Otosclerosis, Tarsal synostosis	OMIM:617898
Cornelia De Lange Syndrome 2	Thin upper lip vermilion, Limited elbow movement, Micrognathia, Short neck, Small hand, Downturne...	OMIM:300590
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Congenital hip dislocation, Atresia of the external auditory canal	OMIM:133705
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Polyhydramnios, Short neck, Micrognathia, Abnormality of the e...	ORPHA:1486
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Patent ductus arteriosus, Abnormal cardiac septum morphology, Scoliosis...	ORPHA:2712
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib...	ORPHA:83451
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia	OMIM:617830
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v...	ORPHA:353277
Robin Sequence With Cleft Mandible And Limb Anomalies	Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia, Bifid uvula, M...	OMIM:268305
Congenital Disorder Of Glycosylation, Type Il	Decreased fetal movement, Edema, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Hep...	OMIM:608776
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Abnormality of the tongue muscle, Cryptorchidism, Hip dislocation...	ORPHA:370968
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Chronic otitis...	ORPHA:1452
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Vitamin K Antagonist Embryofetopathy	Short neck, Myelomeningocele, Punctate vertebral calcifications, Respiratory insufficiency, Macro...	ORPHA:1914
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Short hallux, Limit...	OMIM:135100
Leopard Syndrome 2	Mandibular prognathia, Short neck, Thick lower lip vermilion, Low-set ears, Webbed neck, Cubitus ...	OMIM:611554
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Noonan Syndrome 5	Mandibular prognathia, Atrial septal defect, Polyhydramnios, Short neck, Cubitus valgus, Cryptorc...	OMIM:611553
Deafness, X-Linked 7	Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito...	OMIM:301018
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Congenital sensorineural hea...	ORPHA:500159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Sweeney-Cox Syndrome	Prominent metopic ridge, Uplifted earlobe, Micrognathia, Asplenia, Wide anterior fontanel, Veloph...	OMIM:617746
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, High palate, Atrial se...	OMIM:121050
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Polyhydramnios, Micrognathia, Cardiomegaly, Neonatal death, Prematur...	OMIM:608013
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insuff...	OMIM:619314
Multiple Synostoses Syndrome 1	Carpal synostosis, Stapes ankylosis, Thin upper lip vermilion, Proximal/middle symphalangism of 5...	OMIM:186500
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Short neck, Micrognathia, Abnormal antihelix morphology, Large earlobe, Th...	ORPHA:1438
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, High palate...	OMIM:255320
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Tyshchenko Syndrome	Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipple, Polyhydramnios, Crypto...	OMIM:615102
Distal Triplication 15Q	Craniosynostosis, Micrognathia, Kyphosis, Sensorineural hearing impairment, Cupped ear, Patent du...	ORPHA:314588
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Pu...	OMIM:619003
Fryns Syndrome	Tented upper lip vermilion, Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morpho...	ORPHA:2059
Otofaciocervical Syndrome	Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive...	ORPHA:2792
Tarp Syndrome	Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Cryptorchidism, Prominent antihe...	ORPHA:2886
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Polyhydramnios, Short ne...	ORPHA:314621
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hip dislocation, Scoliosis	OMIM:300434
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Protruding ear, High pala...	OMIM:612474
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Nephrogenic diabetes insipidus, Supernumerary tooth, Abnormal antihe...	ORPHA:3145
Filippi Syndrome	Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short philtrum, Hypodontia, Mic...	OMIM:272440
Gorlin Syndrome	Vertebral fusion, Hemivertebrae, Vertebral wedging, Abnormality of the neck, Scoliosis	ORPHA:377
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Respiratory insufficiency due to muscle weakness...	ORPHA:2590
Mgat2-Cdg	Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Re...	ORPHA:79329
Orofaciodigital Syndrome Xix	Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio...	OMIM:620107
Atelosteogenesis, Type I	Laryngeal stenosis, Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Knee dislocation,...	OMIM:108720
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Dentici-Novelli Neurodevelopmental Syndrome	Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment	OMIM:619877
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Cleft upper ...	OMIM:612561
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Decreased response to growth hormone ...	OMIM:216550
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte...	OMIM:600001
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Diabetes mellitus, Kyphoscoliosis, Short neck, Micrognathia, Sensorineu...	ORPHA:391408
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Situs inversus totalis, Velopharyngeal insufficiency, Non-midli...	ORPHA:199302
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Posteriorly rotated ears, Enlarged joints, P...	ORPHA:1427
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Congenital diaphragmatic h...	OMIM:606164
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Hyperlordosis, Micrognathia, Cr...	ORPHA:1387
Distal Duplication 15Q	Congenital muscular torticollis, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidis...	ORPHA:1707
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Short neck, Cleft upper lip, Cryptorchidism, Sen...	OMIM:243310
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Atresia of the external auditory cana...	ORPHA:1488
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Secundum atrial septal defect, Short neck, Sensorineural hearing impairment, P...	OMIM:608779
4Q21 Microdeletion Syndrome	Short palm, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Downturne...	ORPHA:238750
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Thickened nuchal skin fold, Posteriorly rotated ears, Camptodactyly of finger, Short neck, Microg...	ORPHA:2083
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Short neck, Stillbirth, Neonatal death, Low-set ears, Hyd...	OMIM:236500
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Uplifted earlobe, Protruding ear, Low-set ears, Laryngomalacia, Small earlobe, Hearing impairment	ORPHA:412069
Monosomy 18Q	Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner...	ORPHA:1600
Tetraploidy	Short philtrum, Aplasia/Hypoplasia of the thymus, Cleft palate, Hypoplasia of the ear cartilage	ORPHA:3305
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Prot...	ORPHA:236
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Abnormal autonomic nervous system physiology, Aganglionic megacolon, Atresia of the external audi...	OMIM:243180
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Protruding...	OMIM:249420
Superficial Siderosis	Vertigo, Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve plexus, Bi...	ORPHA:247245
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ...	OMIM:620021
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Decreased serum insulin-like growth factor 1, Decreased response to growth ...	ORPHA:363528
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Sho...	OMIM:300514
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H...	OMIM:618021
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Dental crowding, Polyhydramnios, Short neck, Knee flexi...	OMIM:193700
Trisomy 8Q	Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchid...	ORPHA:1752
Transaldolase Deficiency	Edema, Thrombocytopenia, Hydrops fetalis, Abnormal respiratory system physiology, Hepatosplenomeg...	ORPHA:101028
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate, Protruding ear, Decreased testicular size, Hearing impairment	ORPHA:85273
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Cog7-Cdg	Micrognathia, Short neck, Hepatosplenomegaly, Abnormal heart morphology, Narrow mouth, Retrognathia	ORPHA:79333
X-Linked Intellectual Disability, Snyder Type	Asymmetry of the ears, Cryptorchidism, Cupped ear, Abnormality of the Leydig cells, Low-set ears,...	ORPHA:3063
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Kyphosis, Increased nuchal trans...	ORPHA:77300
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Boomerang Dysplasia	Abnormally ossified vertebrae, Decreased response to growth hormone stimulation test, Polyhydramn...	ORPHA:1263
Humeroradial Synostosis	Small earlobe, Microtia	OMIM:236400
8P23.1 Microdeletion Syndrome	Short neck, External ear malformation, Micrognathia, Patent ductus arteriosus, Pulmonary artery s...	ORPHA:251071
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif...	OMIM:208230
Osteogenesis Imperfecta, Type I	Otosclerosis, Biconcave flattened vertebrae, Mitral valve prolapse, Aortic aneurysm, Wormian bone...	OMIM:166200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Patent ductus arteriosus, Microtia, Low-set ears	ORPHA:171839
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Posteriorly rotated ears, Sagittal craniosynostosis, High palate, Broa...	OMIM:314320
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly	OMIM:156510
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Short neck, Cryptorchidism, Abnormal heart morp...	ORPHA:369891
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Low-set ears, Anterior creases of earlobe	OMIM:182875
Microcephaly-Micromelia Syndrome	Craniosynostosis, Short neck, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Abs...	OMIM:251230
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar...	OMIM:220500
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,...	OMIM:619472
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the...	OMIM:257850
Triploidy	Low-set, posteriorly rotated ears, Intestinal malrotation, Polyhydramnios, Short neck, Micrognath...	ORPHA:3376
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Sensorineural hearing impairment, Hydrops fetalis, Cleft palate, Hydrocele test...	OMIM:616738
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Absent pulm...	OMIM:600460
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Noonan Syndrome 4	Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Short ...	OMIM:610733
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Decreased fetal movement, Camptodactyly of finger, Micrognathia, Short neck, Low-set ears, Hydran...	ORPHA:2570
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Abruzzo-Erickson Syndrome	Hearing impairment, Macrotia, Cleft palate, Protruding ear	OMIM:302905
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Micromelia, Lymphedema, Pancreatic cysts, Hydrop...	ORPHA:1318
Anauxetic Dysplasia 2	Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordos...	OMIM:617396
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,...	ORPHA:513456
Short-Rib Thoracic Dysplasia 12	Edema, Short neck, Polyhydramnios, Lobulated tongue, Short palm, Neonatal death, Patent foramen o...	OMIM:269860
3Q13 Microdeletion Syndrome	Cryptorchidism, Long philtrum, Short neck	ORPHA:1621
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf...	ORPHA:99772
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Short neck, Small hand, Polycystic ovaries, High palate, Scoliosis, Macroo...	ORPHA:284180
Aural Atresia, Congenital	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Posteriorly rotated ears, Wide mouth, Delayed...	OMIM:618506
Cerebellofaciodental Syndrome	Ventricular septal defect, Short neck, Cryptorchidism, Dental malocclusion, Shortening of all dis...	OMIM:616202
Greenberg Dysplasia	Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica...	ORPHA:1426
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Ventricular septal defect, Abnormal heart morphology, Coarctation of a...	ORPHA:261183
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p...	OMIM:619462
Kniest Dysplasia	Respiratory distress, Hip contracture, Enlarged joints, Rhizomelia, Tracheomalacia, Short neck, A...	OMIM:156550
Three M Syndrome 2	Delayed eruption of teeth, Lumbar hyperlordosis, Hyperlordosis, Short neck, Dental malocclusion, ...	OMIM:612921
Xk Aprosencephaly Syndrome	Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia	ORPHA:3469
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula...	ORPHA:1345
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Flexion contracture	OMIM:618658
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Irregular vertebral endpla...	OMIM:618395
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Hyperlordosis, Micrognathia, Abnormality of the dentit...	ORPHA:77258
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo...	OMIM:611376
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of aorta	ORPHA:280195
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Aplasia/Hypoplasia of the external ear, Vascular granular osmiophilic material depo...	ORPHA:168486
Noonan Syndrome 2	Polyhydramnios, Short neck, Micrognathia, High palate, Atrial septal defect, Atrioventricular can...	OMIM:605275
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Microtia, Atresia of the external auditory canal, Conductive hearing impai...	ORPHA:2213
Immunodeficiency 9	Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper...	OMIM:612782
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Micromelia, Short uvula, Hydrops fetalis, Flat acet...	OMIM:614091
Basilicata-Akhtar Syndrome	Tented upper lip vermilion, Abnormal pinna morphology, Short neck, Precocious puberty, Downturned...	OMIM:301032
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short...	OMIM:183900
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Low posterior hai...	ORPHA:85194
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Short neck, Micr...	OMIM:618336
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Sensori...	ORPHA:464288
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Spinal rigidity, Short neck, Respiratory insufficiency, Limited neck flexion, Scoliosi...	OMIM:300696
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Premature birth, Short neck, Micrognathia, Abnormality of the spleen, Mi...	ORPHA:1834
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short neck, Kyphosis, Low posterior hairline, Genu valgum, Dow...	ORPHA:2983
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Kyphosis, Joint hyperflexibility	ORPHA:1875
Odontochondrodysplasia	Delayed eruption of teeth, Patent ductus arteriosus, Joint hyperflexibility, Platyspondyly, Scoli...	ORPHA:166272
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Hyperactivity, Optic atrophy, Coloboma	OMIM:274270
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Torticollis, Contracture of the proximal interphalangeal joint...	ORPHA:2872
Down Syndrome	Atrial septal defect, Conductive hearing impairment, Atrioventricular canal defect, Hypothyroidis...	OMIM:190685
Moebius Syndrome	Decreased testicular size, Respiratory distress, Abnormal pinna morphology, Hypogonadotropic hypo...	OMIM:157900
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Branchiooculofacial Syndrome	Short neck, Micrognathia, Conductive hearing impairment, Ectopic thymus tissue, Hypoplastic super...	OMIM:113620
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Sh...	ORPHA:529962
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukop...	ORPHA:124
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b...	ORPHA:2771
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Sclerotic cra...	ORPHA:371428
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick upper lip vermilion, Short neck, Cryptorchidism, Narrow philtrum, Cuboid-shaped vertebral b...	ORPHA:163654
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory ...	OMIM:610127
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Abnormal dental en...	ORPHA:2616
Holzgreve Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip	OMIM:236110
Aarskog-Scott Syndrome	Short neck, Hypoplasia of the maxilla, Bilateral cryptorchidism, Short palm, Elevated circulating...	OMIM:305400
Kapur-Toriello Syndrome	Atrial septal defect, Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger,...	OMIM:244300
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Short neck, Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition ...	OMIM:616789
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Polyhydramnios, Cardiomegaly, M...	ORPHA:3472
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Glossoptosis, Abnormally ossified ve...	ORPHA:94068
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child...	OMIM:620265
Spondylometaphyseal Dysplasia, Type A4	Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Osteoporotic tarsals, Irregular pate...	OMIM:609052
Teebi-Shaltout Syndrome	Ventricular septal defect, Aortic valve stenosis, Low-set ears, Hypoplastic helices, Small earlobe	OMIM:272950
Neu-Laxova Syndrome 2	Decreased fetal movement, Spina bifida, Short neck, Micrognathia, Edema, Polyhydramnios, Cleft pa...	OMIM:616038
Trichorhinophalangeal Syndrome, Type Iii	Short palm, Thin upper lip vermilion, Short metacarpal, Dental crowding, Supernumerary tooth, Sho...	OMIM:190351
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect, Low-set ears	OMIM:620062
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Braddock-Carey Syndrome 2	Retrognathia, Atresia of the external auditory canal, Hearing impairment	OMIM:619981
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Short neck, Micrognathia, Cryptorchidism, Dental malocclusion, Alveola...	ORPHA:444072
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Chronic otitis media, Abnormalit...	ORPHA:96167
Al-Gazali-Bakalinova Syndrome	Enlarged joints, Short neck, Lymphedema, Genu valgum, Low-set ears, Malar flattening, Triangular ...	OMIM:607131
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec...	OMIM:139210
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Low-s...	OMIM:618330
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Short neck, Micrognathia, Narrow mouth, Respiratory insufficiency, High palate, Low-...	ORPHA:562528
Chromosome 10Q26 Deletion Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Craniosynostosis, Sho...	OMIM:609625
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
19P13.12 Microdeletion Syndrome	Short palm, Atrial septal defect, Ventricular septal defect, Craniosynostosis, Short neck, Extern...	ORPHA:254346
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Cleft upper lip, Cleft ...	OMIM:613885
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Patent ductus arteriosus, Beaking of vert...	OMIM:618961
Acro-Renal-Mandibular Syndrome	Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Low-set, p...	ORPHA:958
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizomelia, Short neck, Pl...	OMIM:612813
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis	OMIM:236660
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology	OMIM:615542
Alg3-Cdg	Abnormal pinna morphology, Abnormality of the endocrine system, Coarctation of the descending aor...	ORPHA:79321
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Microcytic anemia, Leukocytosis, Microtia, Recurrent otitis media, Conductive heari...	ORPHA:99843
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Short neck, Micrognathia, High, narrow palate, Cryptorchidism, Precocious puberty, ...	ORPHA:96092
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Isotretinoin Syndrome	Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the outer ear	ORPHA:2305
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Multiple joint contractures, Foot joint contracture, Shoulder fl...	ORPHA:536516
Dental Anomalies And Short Stature	Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro...	OMIM:601216
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Hypothyroidism, Patent ductus...	ORPHA:293939
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, Abnormal helix...	OMIM:214110
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Respiratory failure requiring assisted ventilation, Short neck, High palate, Scoliosis, Long phil...	OMIM:619026
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Platyspondyly, Osteoporosis	ORPHA:71267
19P13.3 Microduplication Syndrome	Ventricular septal defect, Posteriorly rotated ears, Kyphoscoliosis, Micrognathia, Precocious pub...	ORPHA:447980
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defe...	OMIM:618494
Hall-Riggs Syndrome	Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly...	OMIM:234250
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Neuraminidase Deficiency	Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Sensorineural hearing impairmen...	OMIM:256550
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Microg...	OMIM:153400
Rafiq Syndrome	Thin upper lip vermilion, Short neck, Short philtrum, Low-set ears, Malar flattening, Macrotia, S...	OMIM:614202
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Protruding ear, Downturned corne...	ORPHA:261318
Contractures-Developmental Delay-Pierre Robin Syndrome	Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Radioulna...	ORPHA:436003
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Lymphedema, Splenomegaly, Hydrops fetal...	ORPHA:584
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Prominent superficial veins, Delayed eruption of teeth, Camptodactyly o...	OMIM:612350
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Short neck, Micrognathia, High, narrow palate, Ileus, High palate, Short philtrum, Low-set ears, ...	OMIM:620156
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin...	OMIM:240300
Atelosteogenesis, Type Iii	Cervical segmentation defect, Rhizomelia, Cervical kyphosis, Short neck, Elbow dislocation, Micro...	OMIM:108721
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis	OMIM:616756
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Non-midline cleft lip, Cleft palate, Ectopic anus, Hypoplastic left heart	ORPHA:2476
Marshall Syndrome	Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Sensorineural hearing impairment...	OMIM:154780
Scalp-Ear-Nipple Syndrome	Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Cardiac myxoma, Cupped ear,...	OMIM:181270
Fumarase Deficiency	Necrotizing enterocolitis, Optic atrophy, Perimembranous ventricular septal defect, High palate, ...	OMIM:606812
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S...	OMIM:608227
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis	ORPHA:1445
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Mast...	ORPHA:66661
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Genu recurvatum, Ventricular septal defect, Camptodactyly of f...	ORPHA:1425
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Lumb...	OMIM:601492
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Genu valgum, High palate, Hypoplasia of the ear cartilage, Atr...	ORPHA:1035
Schwartz-Jampel Syndrome	Apnea, Polyhydramnios, Short neck, Micrognathia, Micromelia, High palate, Wrist flexion contractu...	ORPHA:800
Shox-Related Short Stature	Short neck, Micrognathia, Madelung deformity, Genu valgum, Short foot, High palate, Forearm under...	ORPHA:314795
Costello Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Ventricular septal defect, Abnorma...	ORPHA:3071
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Micrognathia, Short neck, Lymphedema, Downturned corners of mouth, Neonatal death	OMIM:616342
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear...	OMIM:618342
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Cryptorchidism, Small earlobe, Absent nipple, Hypoplastic nipples	OMIM:616001
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Burn-Mckeown Syndrome	Mandibular prognathia, Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upper...	OMIM:608572
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corn...	OMIM:618779
Three M Syndrome 1	Joint dislocation, Mandibular prognathia, Neonatal respiratory distress, Hyperlordosis, Short nec...	OMIM:273750
48,Xxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Short neck, ...	ORPHA:96263
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ...	ORPHA:411986
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Genu recurvatum, Kyphosis, Aortic root aneurysm, Scolios...	OMIM:609008
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Delayed skeletal maturation, Scoliosis, Joint stiffness	ORPHA:1548
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab...	OMIM:614104
Developmental And Epileptic Encephalopathy 96	Death in infancy, Neonatal respiratory distress, Hydrops fetalis	OMIM:619340
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ...	OMIM:119600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite...	ORPHA:266
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Congenital Heart Block	Premature birth, Crackles, Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Perip...	ORPHA:60041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Laryngeal web, Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, ...	OMIM:617660
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Micrognathia, Short neck, Short thumb, Short 5th finger, Patellar dislocation, Long p...	OMIM:618821
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Short neck, Cleft lip, Deep philtrum, Cleft palate, Protruding ear, Abnormal h...	OMIM:618571
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion...	OMIM:619040
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short neck, High, narrow palate, Mitral valve prolapse, Low poste...	ORPHA:2183
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Anterior pit...	OMIM:610829
Auriculoosteodysplasia	Attached earlobe	OMIM:109000
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis, Sensorineural hearing impairment, Deep philtrum, Gingival overgrowth, Macro...	OMIM:616455
Solitary Median Maxillary Central Incisor	Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Coloboma, Micropht...	OMIM:147250
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotated ears, Short neck, Sensor...	OMIM:616708
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Hydrops fetalis, Upper limb underg...	OMIM:613124
Alg8-Cdg	Premature birth, Edema, Thrombocytopenia, Hydrops fetalis, Macroglossia, Low-set ears, Intrauteri...	ORPHA:79325
Episodic Ataxia Type 4	Abnormal head movements	ORPHA:79136
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Apnea, Micrognath...	OMIM:602483
Tarp Syndrome	Meckel diverticulum, Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Cleft palate, T...	OMIM:311900
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Webbed neck, Anteriorly placed anus, Downturne...	OMIM:616894
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Cupped ear, Submucous cl...	OMIM:612863
Earring Holes, Natural	Congenital earlobe sinuses	OMIM:129000
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Wormian bones, Dentinogenesis i...	OMIM:166220
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Distal Deletion 12Q	Short neck, Micrognathia, High, narrow palate, Patent foramen ovale, Esophageal atresia, Wide ant...	ORPHA:96149
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Micrognathia, Patent ductus arteriosus, Retro...	OMIM:618142
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment	ORPHA:207
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati...	OMIM:615582
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Malar flattening...	OMIM:612582
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta...	OMIM:300990
Ververi-Brady Syndrome	Thin upper lip vermilion, Cupped ear, Wide mouth, High palate, Transposition of the great arterie...	OMIM:617982
Scarf Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of...	ORPHA:3134
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidi...	OMIM:612463
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ...	ORPHA:1227
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture	ORPHA:85193
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat...	ORPHA:166011
De Barsy Syndrome	Congenital hip dislocation, Prominent veins on trunk, Premature rupture of membranes, High palate...	ORPHA:2962
Lymphatic Malformation 5	Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Thin upper lip vermilion, Posteriorly rotated ears, Short neck, Short philtrum, ...	OMIM:616801
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis, Low posterior hairline	ORPHA:2429
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, Atres...	OMIM:123500
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Polycystic ovaries, Microtia, Atres...	ORPHA:1770
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short neck, Cardiomegaly, Micrognathia, Multiple joint dislocation, Knee d...	OMIM:245600
Lambotte Syndrome	Macrotia, Atresia of the external auditory canal, Retrognathia	OMIM:245552
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Delayed umbilical cord separation, Supernumerary tooth, Asthma, Rec...	OMIM:619752
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve	ORPHA:90117
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Abnormality of th...	ORPHA:502
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland	ORPHA:2762
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal...	OMIM:184252
Leopard Syndrome 3	Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Low posterior hairline, A...	OMIM:613707
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, Short neck, High, narrow palate, Dyspnea, Abnorma...	ORPHA:3015
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the outer ear, Self hugging, Head-banging, EEG abnormality, Onychot...	OMIM:182290
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Cleft lip, Narrow mouth, Cleft palate, Downturned corners of mouth, Mic...	OMIM:618089
Kury-Isidor Syndrome	Sacral dimple, Tented upper lip vermilion, Ventricular septal defect, Short neck, High palate, Wi...	OMIM:619762
Hydrolethalus	Low-set, posteriorly rotated ears, Premature birth, Polyhydramnios, Micrognathia, Micromelia, Cry...	ORPHA:2189
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorine...	OMIM:618652
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Short neck, Accessory oral frenulum, Polyhydramnios, Micromelia, Aplastic cl...	OMIM:616546
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Secundum atrial septal defect, Inc...	OMIM:620183
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Kyphosis, Flexion contracture	OMIM:618237
Meier-Gorlin Syndrome 5	Cryptorchidism, Small earlobe, Microtia, Low-set ears	OMIM:613805
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Short neck, Cardiomegaly, Secundum atrial septal defe...	OMIM:300855
Hajdu-Cheney Syndrome	Short neck, Micrognathia, Absent frontal sinuses, High palate, Conductive hearing impairment, Pre...	OMIM:102500
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Metopic suture patent to nasal root...	ORPHA:3369
Distal Deletion 15Q	Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Double outl...	ORPHA:1596
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot, Cleft palate	ORPHA:217
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Low-set, posteriorly rotated ears, Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotat...	ORPHA:171866
49,Xxxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Short neck, ...	ORPHA:96264
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl...	OMIM:156530
Neutral Lipid Storage Disease With Ichthyosis	Cardiomyopathy, Small earlobe, Abnormal granulocyte morphology, Sensorineural hearing impairment	ORPHA:98907
Hyperprolinemia, Type I	EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Kagami-Ogata Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Microtia, Pulmonic stenosis, A...	OMIM:608149
6Q16 Microdeletion Syndrome	Microtia, Low-set ears, Abnormal ear morphology	ORPHA:171829
Multiple Mitochondrial Dysfunctions Syndrome 3	Polyhydramnios, Respiratory insufficiency, Respiratory failure, High palate, Intrauterine growth ...	OMIM:615330
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, L...	OMIM:620210
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor...	OMIM:618067
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Redundant neck skin, Rhizomelia, Micromelia, Short neck, Hearing abnormality, ...	ORPHA:1842
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art...	ORPHA:51608
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of...	OMIM:617925
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, He...	ORPHA:2021
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Intrauterine growth ret...	OMIM:619057
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ...	OMIM:114300
Temtamy Preaxial Brachydactyly Syndrome	Short metacarpal, Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Short metatarsal, Cleft...	OMIM:605282
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Cog5-Cdg	Posteriorly rotated ears, Camptodactyly of finger, Short neck, Cryptorchidism, Sensorineural hear...	ORPHA:263487
Scarf Syndrome	Thickened nuchal skin fold, Posteriorly rotated ears, Short neck, Cryptorchidism, Abnormal form o...	OMIM:312830
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal placental membrane mo...	ORPHA:79500
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Syndactyly-Polydactyly-Earlobe Syndrome	Abnormal earlobe morphology	OMIM:186350
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Polyhydramnios, Short nec...	ORPHA:96334
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Micr...	OMIM:610125
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, Hip contracture, Thin upper lip vermilion, Tented upper lip ve...	ORPHA:371364
Microphthalmia, Syndromic 2	Anteverted ears, Oligodontia, Fused teeth, Atrial septal defect, Hypothyroidism, Bifid uvula, Per...	OMIM:300166
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft...	ORPHA:563609
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, Cardiomegaly, Cleft palate, Cardiomyopathy, Respiratory f...	ORPHA:158687
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Short hallux, Short neck, Cardiomegaly, Pericardia...	OMIM:239850
Arterial Tortuosity Syndrome	Respiratory distress, Hiatus hernia, Pulmonary artery stenosis, Dilated cardiomyopathy, Cardiores...	ORPHA:3342
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Limited elbow movement, Short neck, Micrognathia, Downturned corners of mo...	OMIM:610759
Nabais Sa-De Vries Syndrome, Type 2	Posteriorly rotated ears, Protruding ear, Microtia, Hypoplastic left heart, Low-set ears, Hypothy...	OMIM:618829
Atelosteogenesis Type Ii	Laryngeal stenosis, Cervical kyphosis, Polyhydramnios, Short neck, Micrognathia, Micromelia, Hypo...	ORPHA:56304
Deeah Syndrome	Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri...	OMIM:619004
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Pat...	ORPHA:96061
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears	OMIM:619092
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Polyhydramnios, Short neck, Micrognathia, Death in infancy, Neonatal respirato...	OMIM:618947
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect...	OMIM:617506
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis	OMIM:112350
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Genu valgum, Pl...	OMIM:271650
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetali...	OMIM:618815
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, S...	ORPHA:247262
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d...	OMIM:617159
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Fusiform ascending tubular aorta an...	OMIM:617168
Down Syndrome	Thickened nuchal skin fold, Aganglionic megacolon, Protruding tongue, Short neck, Microdontia, Na...	ORPHA:870
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Short neck, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hypoxemia,...	ORPHA:2282
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl...	OMIM:216300
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Splenom...	ORPHA:583
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ...	OMIM:617695
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Wide anterior fontanel,...	OMIM:614886
Richieri Costa-Da Silva Syndrome	Joint dislocation, Kyphoscoliosis, Short neck, Abnormality of the dentition, Vertebral wedging, G...	ORPHA:3101
Aortic Aneurysm, Familial Thoracic 9	High palate, Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity	OMIM:616166
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
3Q27.3 Microdeletion Syndrome	Small earlobe, Low-set ears	ORPHA:397695
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Abnormality of the wrist, Micrognathi...	ORPHA:93316
Fg Syndrome Type 1	Dental crowding, Micrognathia, Fused teeth, High palate, Atrial septal defect, Malrotation of col...	ORPHA:93932
Catel-Manzke Syndrome	Joint dislocation, Short neck, Micrognathia, Glossoptosis, High palate, Bifid uvula, Short metaca...	OMIM:616145
Amish Lethal Microcephaly	Optic atrophy, Cleft soft palate, Spina bifida, Lissencephaly	ORPHA:99742
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Premature birth, Abnormal primary mol...	ORPHA:1830
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion...	OMIM:618974
Opitz-Kaveggia Syndrome	Dental crowding, Short neck, Micrognathia, Anteriorly placed anus, Simple ear, Lumbar hyperlordos...	OMIM:305450
Xq28 (MECP2) duplication	Macrotia, Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum	ORPHA:94066
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Mandibular prognathia, Low-set, posteriorly rotated ears, Camptodactyly of fing...	ORPHA:1327
White-Sutton Syndrome	Mandibular prognathia, Short neck, Micrognathia, Downturned corners of mouth, High palate, Short ...	OMIM:616364
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Short neck, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:615355
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Larsen Syndrome	Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory...	OMIM:150250
Klippel-Trénaunay Syndrome	Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous insufficiency, Pulmonary embol...	ORPHA:90308
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma...	ORPHA:1041
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Polyhydramnios, Microgn...	ORPHA:994
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Abnormal mitral valve morphology, Thickened helices, Abnormality of the...	ORPHA:581
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum,...	OMIM:610536
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetitive manner...	OMIM:619150
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Pelviscapular Dysplasia	Redundant neck skin, Abnormal pinna morphology, Congenital hip dislocation, Short femur, Short ne...	ORPHA:93333
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short palm, Thick upper lip vermilion, Short metacarpal, Malar flattening, Short neck, Anterior s...	OMIM:611717
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Short philtrum, Widely spaced teeth, Conductive hearing impairment, Cleft lip, ...	OMIM:280000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Atrial septal defect, Con...	OMIM:304120
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Tongue nodules, Short sternum, Low-set ears, Microdontia, Bifid to...	OMIM:258850
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Short neck, Micrognathia, High palate, Short philtrum, Microdontia, Lumbar hyper...	ORPHA:251028
Mass Syndrome	Ascending aortic dissection, Scoliosis, Aortic aneurysm	OMIM:604308
Tetrasomy 5P	Respiratory distress, Redundant neck skin, Posteriorly rotated ears, Short hallux, Short neck, Mi...	ORPHA:3309
Mucopolysaccharidosis Type 4	Joint dislocation, Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordo...	ORPHA:582
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph...	OMIM:612530
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb perome...	ORPHA:1299
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Thoracolumbar scoliosis, C...	OMIM:616723
Typical Nemaline Myopathy	Polyhydramnios, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, Hip dislocati...	ORPHA:171436
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopa...	OMIM:616277
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect	OMIM:614876
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Ventricular septal...	OMIM:212066
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat...	OMIM:619980
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Platyspondyly, Atresia of the external auditory canal	OMIM:601356
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Prominent scalp veins, Posteriorly rotated ears, Short ne...	OMIM:264090
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Rectal prolapse, Protr...	ORPHA:235
Parenti-Mignot Neurodevelopmental Syndrome	Cupped ear, Microtia, Posteriorly rotated ears, Low-set ears	OMIM:619873
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Scoliosis	OMIM:602271
Autosomal Dominant Spastic Ataxia Type 1	Jerky head movements, Dysphagia	ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Short ...	OMIM:309900
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Increased nuchal...	ORPHA:93274
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Splenomegaly, Hydrops fetalis, Polyhydramnios	ORPHA:2204
Femoral-Facial Syndrome	Thin upper lip vermilion, Maternal diabetes, Micrognathia, Cryptorchidism, Cleft palate, Orofacia...	ORPHA:1988
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hyperflexibility	ORPHA:319199
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Giant Cell Arteritis	Glossitis, Pericarditis, Diabetes insipidus, Mediastinal lymphadenopathy, Vertigo, Vasculitis, Ar...	ORPHA:397
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Crypto...	OMIM:606851
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Lumbar hyperlordos...	OMIM:607095
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Redundant neck skin, Ventricular septal defect, Polyhydramnios, Short n...	ORPHA:1655
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Cleft palate, Vertebral segm...	ORPHA:1797
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Wrist flexion contracture, Dislocated radi...	OMIM:260660
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Joint contracture of the hand, Widely-spaced maxilla...	OMIM:136760
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Kapur-Toriello Syndrome	Posteriorly rotated ears, Short neck, Atresia of the external auditory canal, Low-set ears, Pachy...	ORPHA:2328
Noonan Syndrome 10	Atrial septal defect, Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Incr...	OMIM:616564
Non-Distal Duplication 13Q	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Cryptorchidism	ORPHA:1702
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Apnea, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis...	OMIM:620167
Tetralogy Of Fallot	Cryptorchidism, Thin vermilion border, Tetralogy of Fallot	ORPHA:3303
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced ...	ORPHA:2728
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls...	ORPHA:444002
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Increa...	ORPHA:2655
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Low posterior hairline, Reduced bone mineral density, Vertebral segmentation defect, Sc...	ORPHA:2617
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Short neck, Thick lower lip vermilion, Dental maloc...	OMIM:157980
Noonan Syndrome 7	Atrial septal defect, Short neck, Cubitus valgus, Low posterior hairline, Large earlobe, Hypertro...	OMIM:613706
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Sensorineural hearing impairment, Cryptorchidism, Cleft...	OMIM:612370
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe...	OMIM:619769
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Thickened nuchal skin fold, Craniosynostosis, Ankle flexion contracture, Short neck, Micrognathia...	ORPHA:284417
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hy...	OMIM:619522
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis...	OMIM:619656
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Polyhydramnios, Short neck, Micrognathia, ...	OMIM:213980
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palat...	OMIM:108300
Flynn-Aird Syndrome	Kyphosis, Joint stiffness, Scoliosis, Atherosclerosis	ORPHA:2047
Man1B1-Cdg	Thin upper lip vermilion, Short neck, Short philtrum, Thick vermilion border, Low-set ears, Eclab...	ORPHA:397941
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Broad neck, Dental crowding, Short neck	ORPHA:320385
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormali...	ORPHA:449563
Diffuse Neonatal Hemangiomatosis	Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thro...	ORPHA:2123
Anencephaly 2	Anophthalmia	OMIM:619452
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Dworschak-Punetha Neurodevelopmental Syndrome	Large earlobe, Dilation of Virchow-Robin spaces, Cupped ear, Short neck	OMIM:619955
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Spina bifida, Hyperlord...	OMIM:234100
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Posteriorly rotated ears, Aganglionic megacolon, Ventricular septal defect, Patent ductus arterio...	OMIM:613870
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Smooth philtrum, Thin upper ...	ORPHA:263508
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Optic at...	ORPHA:1782
Costello Syndrome	Redundant neck skin, Limited elbow movement, Short neck, Micrognathia, Polyhydramnios, High palat...	OMIM:218040
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Edema, Short neck, Polyhydramnios, Cryptorchidism, Sensorineura...	OMIM:613224
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ...	ORPHA:261190
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham...	OMIM:174300
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Microtia, Everted lower lip ...	OMIM:615162
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Protruding ear, Atrial septal defect, Micro...	OMIM:613458
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:139471
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericard...	ORPHA:2414
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Short neck, Micrognathia, Deep philtrum, High palate, Atrial septal defect, Prema...	OMIM:115150
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis, Hearing impairment	ORPHA:477774
Desbuquois Dysplasia 1	Joint dislocation, Short neck, Osteoarthritis, Short metatarsal, Genu varum, Microretrognathia, N...	OMIM:251450
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia	ORPHA:2145
Christianson Syndrome	Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Noonan Syndrome 14	Posteriorly rotated ears, Polyhydramnios, Short neck, High, narrow palate, Kyphosis, Cryptorchidi...	OMIM:619745
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Polyhydramn...	OMIM:151210
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal...	OMIM:268400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnormal form of t...	ORPHA:2636
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Microtia	OMIM:619817
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Short neck, Micrognathia, Cleft palate, High palate, Hypoplastic nipple...	OMIM:156610
Chromosome 18P Deletion Syndrome	Redundant neck skin, Posteriorly rotated ears, Short neck, Micrognathia, Cryptorchidism, High pal...	OMIM:146390
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosis, Prominent crus of helix, Extern...	ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Abnormal pinna morphology, Dental crowding, Kyphoscoliosis, Short neck, Hi...	OMIM:309583
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Camptodactyly of finger, Short neck, Low posterior hairline,...	ORPHA:261519
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Short neck, Abnormality of the thyroid gland, Thick...	ORPHA:2563
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a...	ORPHA:2001
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Abnormality of ...	OMIM:618529
Nemaline Myopathy 8	Death in infancy, Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence, Respiratory ...	OMIM:615348
Autosomal Recessive Stickler Syndrome	Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility, Genu valgum	ORPHA:250984
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Thakker-Donnai Syndrome	Posteriorly rotated ears, Ventricular septal defect, Short neck, Narrow mouth, Hemivertebrae, Tra...	ORPHA:1780
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Short neck, Microg...	OMIM:616266
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea, Broad neck, Dental crowding, Short neck	OMIM:615031
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Yunis-Varon Syndrome	Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhy...	OMIM:216340
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Microtia, Low-set ears	ORPHA:357175
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, O...	ORPHA:137834
Hydrops Fetalis, Nonimmune	Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Small abnormally formed scapulae, Short nec...	ORPHA:140
Van Den Ende-Gupta Syndrome	Posteriorly rotated ears, Overfolded helix, Protruding ear, Laryngomalacia, Small earlobe	OMIM:600920
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, Protruding ear, High palate, Microdo...	OMIM:259775
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormality of the ear, Increase...	ORPHA:457395
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Ventricular septal defect, Intestina...	ORPHA:457193
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Posteriorly rotated ears, Asthma, Prominent antihelix, Wide mouth, Bran...	ORPHA:466950
Mucolipidosis Iii Gamma	Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Genu valgum, Scoliosis	OMIM:252605
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Lumbar hyperlordosis, Micrognathia, Simple ear, Hip dislocation, Atresia of the external auditory...	OMIM:602471
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Lower extremity joint dislocation, Cryptorchidism, Patent ductus arter...	ORPHA:163956
Oliver Syndrome	Small earlobe, Absent earlobe, Supernumerary nipple	ORPHA:2920
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Short neck, Mitral valve prolapse, Low posterior hairline, High palate, Hypogonadism, Abnormal te...	ORPHA:2233
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Flat acetabular roof, Irregular vertebral endplates, Platyspondyly, Delayed...	OMIM:609616
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Mic...	OMIM:277380
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Thoracic kyphosis,...	OMIM:300232
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe...	ORPHA:284169
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Abnormal pinna morphology, Cleft palate, Open mouth	OMIM:147800
Paganini-Miozzo Syndrome	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:301025
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Chromosome 17P13.1 Deletion Syndrome	Short palm, Decreased fetal movement, Sacral dimple, Posteriorly rotated ears, Spina bifida, Shor...	OMIM:613776
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Polyhydramnios, Short neck, Lymphedema, Deep philtrum, Long philtrum, Juve...	OMIM:613563
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph...	OMIM:619227
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo...	ORPHA:763
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Complet...	OMIM:619343
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Aggressive behavior	OMIM:619470
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Fanconi Anemia, Complementation Group F	Atrial septal defect, Decreased response to growth hormone stimulation test, Cryptorchidism, Pate...	OMIM:603467
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, n...	ORPHA:435638
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin...	OMIM:610883
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Atrial septal defect, Pro...	ORPHA:280633
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Decreased fetal movement, Respirator...	OMIM:620278
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati...	ORPHA:93346
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arterios...	OMIM:270100
Desmosterolosis	Low-set, posteriorly rotated ears, Intestinal malrotation, Abnormal cortical gyration, Patent duc...	ORPHA:35107
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General...	ORPHA:93360
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal a...	ORPHA:1968
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Short neck, Secundum atrial septal defect, Abnormality of the dentition, Low posterior hairline, ...	OMIM:615802
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Low-s...	OMIM:619895
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename...	ORPHA:2791
Distal Deletion 3P	Low-set, posteriorly rotated ears, Sacral dimple, Short neck, Micrognathia, Cryptorchidism, Cleft...	ORPHA:1620
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Short neck, Delayed thelarche, Scoliosis, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,...	OMIM:618624
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Microtia, Hypergonadotropic hypogonadism, Cardiomyopathy	OMIM:212112
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia	OMIM:620137
Hajdu-Cheney Syndrome	Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Periodontitis, Par...	ORPHA:955
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:612562
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Sensorineural hearing impairm...	ORPHA:49827
Developmental And Epileptic Encephalopathy 110	Continuous spike and waves during slow sleep, Macrotia, Low-set ears, Bruxism	OMIM:620149
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Patent d...	OMIM:300712
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, High palate, Short philtrum, Atr...	ORPHA:96121
Lamb-Shaffer Syndrome	Fused cervical vertebrae, Thoracic kyphosis, Scoliosis	ORPHA:530983
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Villous atrophy, Pericarditis, Thin upper lip vermilion, Hypergonadotropic hypo...	OMIM:212065
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent cru...	OMIM:619194
Early-Onset Autosomal Dominant Alzheimer Disease	Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc...	ORPHA:1020
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk...	OMIM:600430
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick low...	OMIM:618950
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Nager Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip...	ORPHA:245
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt...	OMIM:249270
Parietal Foramina With Cleidocranial Dysplasia	Microtia	OMIM:168550
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Prominent metopic ridge, Scoliosis	ORPHA:85317
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Lymphedema, Splenomegaly, Vertigo, Sensorineural hearing impairment, L...	ORPHA:3226
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os...	ORPHA:319195
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,...	ORPHA:884
W Syndrome	Hypoplasia of the ulna, Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary cen...	ORPHA:2804
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Umbilical hernia	ORPHA:2181
Holt-Oram Syndrome	Joint stiffness, Kyphosis, Patent ductus arteriosus, Anomalous pulmonary venous return, Radioulna...	ORPHA:392
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae,...	ORPHA:3404
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Protruding ear, Aortic root aneurysm, Short philtrum, ...	OMIM:301039
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fo...	OMIM:616482
X-Linked Intellectual Disability, Cabezas Type	Short palm, Camptodactyly of finger, Short neck, Open bite, Kyphosis, Thick lower lip vermilion, ...	ORPHA:85293
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, H...	OMIM:614424
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes...	OMIM:253010
Walker-Warburg Syndrome	Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Submucous cleft hard palate,...	ORPHA:899
2Q31.1 Microdeletion Syndrome	Short palm, Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Short ne...	ORPHA:251014
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Polyhydr...	OMIM:114290
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the maxilla, Wide anterior fo...	OMIM:620099
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Ulnar deviation of th...	OMIM:177170
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Resp...	OMIM:224410
Char Syndrome	Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti...	ORPHA:46627
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Precocious puberty, Cryptorchidism,...	ORPHA:3306
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defec...	OMIM:614294
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per...	ORPHA:206443
Eec Syndrome	Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Externa...	ORPHA:1896
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Platyspo...	ORPHA:1856
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Bilateral conductive hearing impairment, Interictal epileptiform activity, Low-set ears, Dysphagi...	OMIM:617802
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Thickened helices, Umbil...	ORPHA:1555
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Laryngeal hypoplasia, Patent ductus arteriosus, Optic disc colo...	ORPHA:1790
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix, Unilat...	OMIM:619122
Geroderma Osteodysplastica	Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral...	ORPHA:2078
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Scheie Syndrome	Mandibular prognathia, Short neck, Genu valgum, Aortic valve stenosis, Spondylolisthesis	OMIM:607016
Proteus-Like Syndrome	Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Venous insuffi...	ORPHA:2969
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Bicuspid a...	ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Abnor...	ORPHA:284160
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Irregular vertebral endplates, Shoul...	OMIM:143095
8Q12 Microduplication Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Everted lower lip vermilion, Narrow ...	ORPHA:228399
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper lip, Scoliosi...	OMIM:601357
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Myelomeni...	OMIM:311200
Van Maldergem Syndrome 1	Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, ...	OMIM:601390
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Prominent crus of helix, Abn...	ORPHA:261311
Spondylometaphyseal Dysplasia, Pagnamenta Type	Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis	OMIM:619638
Cornelia De Lange Syndrome 1	Micromelia, Short neck, Micrognathia, High, narrow palate, Downturned corners of mouth, High pala...	OMIM:122470
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Short neck, Micrognathia, Knee flexion contracture, Smooth tongue, Short ...	OMIM:601559
Three M Syndrome 3	Hyperlordosis, Short neck, Increased vertebral height, Protruding ear, Thick vermilion border, Lo...	OMIM:614205
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h...	ORPHA:401777
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract...	ORPHA:93314
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Spina bifida, Short neck, Cryptorch...	ORPHA:2308
Lymphatic Malformation 12	Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit...	OMIM:620014
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, Lymphedema, High...	OMIM:163950
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Plat...	OMIM:602557
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, External ear malforma...	ORPHA:438216
Osteoglosphonic Dysplasia	Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies...	ORPHA:2645
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,...	OMIM:615349
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, High palate, ...	OMIM:619995
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Large earlobe	OMIM:620317
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
Farber Disease	Respiratory distress, Abnormality of the knee, CNS foam cells, Thrombocytopenia, Short toe, Abnor...	ORPHA:333
Immunodeficiency 95	Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia	OMIM:619773
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Exaggerated cupid's bow, Short neck, Micrognathia, Cryptorchidism, Sensorineura...	OMIM:614230
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	EEG abnormality, Recurrent hand flapping, Pica, Low-set ears	OMIM:618480
Orofaciodigital Syndrome Type 14	Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Hamartoma of ton...	ORPHA:434179
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Neu-Laxova Syndrome 1	Polyhydramnios, Short neck, Micrognathia, Swollen lip, Fetal akinesia sequence, Micromelia, Neona...	OMIM:256520
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Atrial septal defect, ...	ORPHA:289
Opsismodysplasia	Short palm, Short metacarpal, Posteriorly rotated ears, Rhizomelia, Edema, Short neck, Polyhydram...	OMIM:258480
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short neck, Li...	OMIM:615065
Heart-Hand Syndrome Type 2	Cryptorchidism, Low posterior hairline, Anterior creases of earlobe	ORPHA:1350
Multiple Epiphyseal Dysplasia, Lowry Type	Rhizomelia, Micrognathia, Cleft hard palate, Fibular hypoplasia, Knee flexion contracture, Genu v...	ORPHA:166016
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Polyhydramnios...	OMIM:613406
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Protr...	ORPHA:627
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity	OMIM:604801
Noonan Syndrome 9	Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W...	OMIM:616559
Ck Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Hyperlordosis	OMIM:300831
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Short neck, Bilateral cryptorchidism, Esophageal atresia, Missing ribs, Tracheoes...	OMIM:619859
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi...	ORPHA:98913
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Micrognathi...	OMIM:309520
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck, Hypoplasia of th...	OMIM:272460
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Long neck, Spinal canal stenosis, Fused cervical vertebrae, Vertebral...	ORPHA:1724
Orofaciodigital Syndrome Type 10	Tarsal synostosis, Cleft soft palate, Micrognathia, Short neck, Accessory oral frenulum, Short ti...	ORPHA:2756
Müllerian Aplasia And Hyperandrogenism	Short neck, Cleft palate, Protruding ear, Short philtrum, Increased serum testosterone level, Cub...	ORPHA:247768
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Fe...	OMIM:619503
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Accelerated skeletal maturation, Kyphosis, Patent ductus arteri...	OMIM:617190
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, High palate, Atrial septal defect, Conductive hearing impairment, ...	OMIM:300373
Hsd10 Disease	Short attention span, Abnormal social behavior, Dysphagia	ORPHA:391417
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur...	OMIM:608670
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h...	ORPHA:177907
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Intestinal malrotation, Abnormal cortical gyration, Hiatus herni...	ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Sacral dimple, Caesarian section, Short neck, Kyphos...	OMIM:300966
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Dislocated radial head, Limited elbow movement, Interphalangeal joint ...	OMIM:305620
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid...	ORPHA:329224
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Ventricular septal defect, High, narrow palate, P...	ORPHA:276432
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Posteriorly rotated ears, Ventricular se...	OMIM:615948
Pitt-Hopkins Syndrome	Sacral dimple, Fetal nuchal edema, Short fourth metatarsal, Short fifth metatarsal, Supernumerary...	OMIM:610954
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Microtia, Low-set ears, Hearing impairment	OMIM:619056
Smith-Lemli-Opitz Syndrome	Polyhydramnios, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal de...	ORPHA:818
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle...	OMIM:618484
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Accessory oral frenulum, Polyhydramnios, Splenomegaly, Pa...	OMIM:617088
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:609053
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Combined Oxidative Phosphorylation Deficiency 28	Decreased fetal movement, Respiratory failure, Polyhydramnios	OMIM:616794
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati...	ORPHA:488632
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Neonatal respiratory distress, Premature birth, Polyhydramnios, Patent ...	OMIM:616867
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Thin upper lip vermilion, Gingival overgrowth, Microtia, High palate, Short phi...	OMIM:616977
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Craniosynostosis, Micrognathia, Cleft palate, Retrognathia	OMIM:618265
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, Kyphosis, Low posterior hairline, Camptodactyly of 2nd-5th fingers, Lumb...	OMIM:609128
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ...	ORPHA:93351
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cryptorchidism, Small earlobe, Low-set ears	OMIM:620083
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Orofacial cleft, Vertebral segmentation defect, High palate, Con...	ORPHA:2990
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Abnormal dental enamel morphology, Micromelia, Hyperlordosis...	ORPHA:1798
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Submucou...	ORPHA:1071
Kinsship Syndrome	Mandibular prognathia, Short neck, Micrognathia, Downturned corners of mouth, Short philtrum, Wid...	OMIM:619297
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Polyhydramnios	OMIM:225753
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Short neck, Kypho...	ORPHA:77301
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate	ORPHA:209908
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Posteriorly rotated ears, Apnea, Cardiomegaly, D...	OMIM:608836
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon...	OMIM:156500
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutro...	OMIM:105650
Mosaic Variegated Aneuploidy Syndrome 1	Posteriorly rotated ears, Short neck, Micrognathia, Cryptorchidism, Triangular mouth, Cleft palat...	OMIM:257300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery stenosis, Abnormality of t...	ORPHA:75389
Ctcf-Related Neurodevelopmental Disorder	Short philtrum, Joint contracture of the 5th finger, Microdontia, Atrial septal defect, Low-set, ...	ORPHA:363611
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Hypopla...	OMIM:106260
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Polyhydramnios, Short neck, Cleft upper lip, Hemivertebrae, Cl...	ORPHA:1394
Alzahrani-Kuwahara Syndrome	Posteriorly rotated ears, Ventricular septal defect, Coronary sinus enlargement, Micrognathia, Pu...	OMIM:619268
Leopard Syndrome 1	Mandibular prognathia, Limited elbow movement, Short neck, Protruding ear, Webbed neck, Aplasia o...	OMIM:151100
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor, Macrotia	OMIM:302350
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Restrictive ventilatory defect, Vertebral segmenta...	OMIM:608681
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture	ORPHA:157965
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Abnormal pinna morphology, Epistaxis, Short neck, Cryptorchidism, Patent...	ORPHA:495818
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Abnormal heart valve morphology, Prematu...	ORPHA:1340
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Adrenal hypoplasia, Micrognathia, Polyhydramnios, Prematur...	OMIM:275210
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Kyphosis, Pat...	OMIM:617061
Odontochondrodysplasia 1	Delayed eruption of teeth, Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabu...	OMIM:184260
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pinna morphology, Rhizomelia, Kyphoscoliosis, Short neck, Edema, Polyhydramnios, Punctat...	OMIM:302960
2Q37 Microdeletion Syndrome	Short metacarpal, Supernumerary nipple, Short neck, Tracheomalacia, Pyloric stenosis, Small hand,...	ORPHA:1001
Congenital Rubella Syndrome	Ventricular septal defect, Thrombocytopenia, Sensorineural hearing impairment, Patent ductus arte...	ORPHA:290
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Mandibular prognathia, Ventricular septal defect, Micrognathia...	ORPHA:1908
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Ventricular s...	ORPHA:209905
Ollier Disease	Platyspondyly, Bone pain, Osteolysis, Joint stiffness	ORPHA:296
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Posteriorly rotated ears	OMIM:300887
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Short neck, Micrognathia, Long neck, Cleft palate, Protruding ear, High palate, Low-set ears, Nar...	OMIM:301091
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypop...	OMIM:103580
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Prominent antihelix, Abnormal repetitive mannerisms, Optic atrophy	OMIM:617807
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Kyphos...	ORPHA:404440
Brunet-Wagner Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy	OMIM:619690
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Death in infancy, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia...	OMIM:616901
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Posteriorly rotated ears, Cryptorchidism, Patent d...	ORPHA:163979
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip ...	ORPHA:2707
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Chung-Jansen Syndrome	Large earlobe, Laryngeal cleft, Macrotia, Cryptorchidism	OMIM:617991
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi...	OMIM:164220
Ohdo Syndrome	Micrognathia, Cryptorchidism, Hypoplasia of teeth, Long philtrum, Microtia, Widely spaced teeth, ...	OMIM:249620
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short neck, Elevated circulating thyroid-stimulating...	OMIM:612462
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Lymphatic Malformation 13	Chronic lung disease, Nonimmune hydrops fetalis, Lymphedema, Unilateral deafness, Patent ductus a...	OMIM:620244
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st...	OMIM:301030
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Micrognath...	OMIM:115470
Aortic Aneurysm, Familial Thoracic 12	Ascending tubular aorta aneurysm, Aortic root aneurysm, Arthritis, Ascending aortic dissection, S...	OMIM:619825
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Genu valgum, Platyspondyly, Scoliosis, Delayed...	OMIM:184250
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Patent ductus arteriosus, Hip...	OMIM:610443
Encephalocraniocutaneous Lipomatosis	Osteolysis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Osteochond...	ORPHA:2396
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, EEG with foca...	OMIM:617302
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis...	OMIM:230600
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Posteriorly rotated ears, Ventricular septal defect, Camp...	ORPHA:3047
Hypotonia, Ataxia, And Delayed Development Syndrome	Posteriorly rotated ears, Cryptorchidism, Overfolded helix, Low-set ears, Small earlobe	OMIM:617330
Otosclerosis 10	Otosclerosis	OMIM:615589
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Genu recurvatum, Apnea, Elbow flexion contracture, Hip dislocation, Respiratory ...	OMIM:617301
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine	ORPHA:48431
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Polyhydramnios, M...	ORPHA:496641
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Kyphosis, Cleft lip, Cryptorchidism, Cleft pal...	OMIM:619123
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Short neck, Micrognathia, Increased nuchal translucen...	OMIM:619879
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Vertebral segmentation defect, Low posterior hairline, Short neck	ORPHA:2578
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Polyhydramnios, Short neck, Micrognathia, Knee flexion contractu...	ORPHA:3103
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, H...	OMIM:613330
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Codas Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Abnormal dental...	ORPHA:1458
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Open mouth, Ventricular septal defect	OMIM:616816
Thanatophoric Dysplasia, Type I	Champagne cork sign, 1-minute APGAR score of 1, Decreased fetal movement, Neonatal respiratory di...	OMIM:187600
Hurler Syndrome	Hypoplasia of the femoral head, Short neck, Microdontia, Hypoplasia of the odontoid process, Kyph...	OMIM:607014
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Asplenia, Lobulated tongue...	OMIM:249000
Autosomal Recessive Omodysplasia	Posteriorly rotated ears, Rhizomelia, Craniosynostosis, Micrognathia, Elbow dislocation, Cryptorc...	ORPHA:93329
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Maternal diabetes, Tachypnea, Hydrops fetalis, Fetal distress	ORPHA:45452
Tetrasomy 9P	Joint dislocation, Glue ear, Dental crowding, Short neck, Micrognathia, Downturned corners of mou...	ORPHA:3310
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Congeni...	ORPHA:115
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Iris coloboma	ORPHA:77298
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Conductive hearin...	ORPHA:217085
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Huntington Disease-Like 1	Abnormal head movements, Jerky head movements, Restlessness	ORPHA:157941
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Premature birth, Kyphoscoliosis,...	ORPHA:254519
Full Schwannomatosis	Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Scoliosis, Tinnitus, Hearing ...	ORPHA:93921
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Short neck, Cryptorchidism, Tooth mal...	ORPHA:2896
Fraser Syndrome 2	Intestinal malrotation, Short neck, Rectal atresia, Respiratory failure, Hypoplasia of the thymus...	OMIM:617666
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera...	ORPHA:391372
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Enlarged joints, Kyphoscoliosis, Flexion contracture, Abnormality of t...	ORPHA:263463
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor...	ORPHA:293725
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Neu-Laxova Syndrome	Decreased fetal movement, Abnormality of the philtrum, Spina bifida, Micrognathia, Polyhydramnios...	ORPHA:2671
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Thoracic scoliosis, Micrognathia, Prominent veins on trunk, Knee dislocation, ...	ORPHA:536532
Desbuquois Dysplasia 2	Short metacarpal, Lumbar hyperlordosis, Dental crowding, Neonatal respiratory distress, Short nec...	OMIM:615777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Leukemia, Ventricular septal defect	OMIM:602501
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Osteoporosis, Hip...	OMIM:616507
3Q29 Microduplication Syndrome	Ventricular septal defect, Craniosynostosis, Short neck, Abnormality of the dentition, Deep philt...	ORPHA:251038
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Agenesis of maxillary lateral incisor, P...	OMIM:210900
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio...	ORPHA:3320
Bamforth-Lazarus Syndrome	Thyroid agenesis, Cleft palate, Congenital hypothyroidism	OMIM:241850
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Flexion contracture, Interrupted aortic arch, Coarctation of aorta	ORPHA:17
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Micrognathia, Wide mouth, Oligodontia, Microtia, Long philtrum, Recurre...	OMIM:602562
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Edema, Short neck, Micrognathia, Short metatarsal, High palate, Widely spaced teeth, Microdontia,...	OMIM:266920
Fryns Syndrome	Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Short neck, Atrial septal ...	OMIM:229850
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Prominent antihelix, Darwin tubercle of helix, Uplifted earlobe, Protruding ear	OMIM:615722
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Posteriorly rotated ears, Tricuspid stenosis, Microg...	OMIM:164280
Osteoglophonic Dysplasia	Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Split-Hand/Foot Malformation 3	Abnormal pinna morphology, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Conductive hearin...	ORPHA:217093
Progressive Supranuclear Palsy-Corticobasal Syndrome	Jerky head movements, Dysphagia	ORPHA:240103
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Hyperlordosis, Wide anterior fontanel, Dyspnea, Cardiorespiratory arre...	ORPHA:26791
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Submucous cleft hard palate, Th...	OMIM:619103
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Ventricular septal defect, Micrognathia, Short neck, Cryptorchidism, Precocious...	OMIM:620073
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Congenital Multicore Myopathy With External Ophthalmoplegia	Decreased fetal movement, Tented upper lip vermilion, Pneumonia, Edema, Polyhydramnios, Cryptorch...	ORPHA:98905
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Short neck, Hearing abnormality, Th...	ORPHA:647
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,...	OMIM:618430
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Abnormal cardiac septum morphology, Microtia, Cupped ear	ORPHA:1352
Glycogen Storage Disease Iv	Decreased fetal movement, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Hepatosplenom...	OMIM:232500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Meier-Gorlin Syndrome 7	Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial septal defect, Disloca...	OMIM:617063
Cerebrocostomandibular Syndrome	Spina bifida, Micrognathia, Conductive hearing impairment, Myelomeningocele, Meningocele, Kyphosi...	ORPHA:1393
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Genu valgum, Anal atresia, Tetralogy of Fallot, Abnormal palate morphology	ORPHA:1381
Congenital Enterovirus Infection	Respiratory distress, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, ...	ORPHA:292
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Situs inversus totalis, Asplenia, Narrow mouth, Upper airway ...	OMIM:612776
Hand-Foot-Genital Syndrome	Miscarriage, Microtia, Ventricular septal defect	ORPHA:2438
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Ventricular septal defe...	OMIM:616651
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Diastrophic Dysplasia	Joint dislocation, Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Elbo...	ORPHA:628
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag...	OMIM:177850
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Short neck, External ear malform...	ORPHA:233
Van Maldergem Syndrome 2	Wide cranial sutures, Periventricular nodular heterotopia, Micrognathia, Hypoplasia of the maxill...	OMIM:615546
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Dilated cardiomy...	ORPHA:79282
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Atrial septal defect, Decreased testicular size, Posteriorly rotated ears, Ven...	OMIM:157800
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Peripheral pulmonary artery stenosis, Adre...	OMIM:613177
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Polyhydramnios, Short neck, High, narrow palat...	ORPHA:373
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Knee contracture, Recurrent pneumonia, Cleft palate...	OMIM:620249
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, 11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Shor...	ORPHA:50810
Grubben-De Cock-Borghgraef Syndrome	Abnormality of the dentition, Small hand, Short neck	ORPHA:2101
Seckel Syndrome 7	Microtia, Central hypothyroidism	OMIM:614851
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Respiratory insu...	ORPHA:352447
Fetal Akinesia Deformation Sequence 3	Generalized edema, Micrognathia, Fetal akinesia sequence, Short neck	OMIM:618389
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Abnormality of the lymphatic system, Hydrocele testis, Mic...	ORPHA:276280
Pfeiffer Syndrome	Mandibular prognathia, Hyperlordosis, Short neck, High palate, Hypoplasia of the zygomatic bone, ...	ORPHA:710
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia...	OMIM:612528
Arthrogryposis Multiplex Congenita 6	Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame...	OMIM:619334
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali...	OMIM:618835
Sotos Syndrome	Mandibular prognathia, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect,...	OMIM:117550
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetali...	OMIM:618839
Snakebite Envenomation	Epistaxis, Edema, Angioedema, Intracranial hemorrhage, Respiratory failure, Stroke, Gingival blee...	ORPHA:449285
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Multiple joint dislocation, High palate, Microdontia, Repeate...	ORPHA:536467
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout...	OMIM:619950
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Hypophosphatasia, Infantile	Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, Intracranial hemorrh...	OMIM:241500
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ...	ORPHA:2878
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, H...	OMIM:254090
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hy...	OMIM:169400
X Small Rings	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Fetal pye...	ORPHA:96201
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation of aorta, ...	ORPHA:1120
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hearing impairm...	OMIM:182212
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Kabuki Syndrome 2	Natal tooth, Atrial septal defect, Micrognathia, Lower lip pit, Cupped ear, Hip dislocation, Dent...	OMIM:300867
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Protein-losing enteropa...	ORPHA:79327
Mucopolysaccharidosis, Type Iiid	Pilonidal sinus, Thoracic scoliosis, Short neck, Splenomegaly, Thick lower lip vermilion, Ovoid t...	OMIM:252940
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Dextrocardia, Micrognathia, Secundum atrial septal defect, ...	ORPHA:2257
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Kbg Syndrome	Short palm, Vertebral fusion, Tented upper lip vermilion, Posteriorly rotated ears, Macrodontia, ...	OMIM:148050
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Patent ductus arteriosus, Cu...	ORPHA:1517
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Short neck, Downturned corners of mouth, Short philtrum, Smooth philtrum	OMIM:613192
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed...	OMIM:610968
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, Microtia, Low-set ears, Hypothyroidism, Breast hyp...	ORPHA:1439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Posteriorly rotated ears, Absent earlobe	OMIM:619934
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Ventricular septal defect, Micromelia, Hypoplasia of the radius, Respirator...	OMIM:617895
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Czeizel-Losonci Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Spina bif...	ORPHA:2437
Sialidosis Type 1	Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Scoliosis, Cherry r...	ORPHA:812
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Perlman Syndrome	Interrupted aortic arch	OMIM:267000
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Short neck, ...	OMIM:601427
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Low-set ears, Adre...	OMIM:611812
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Camptoda...	OMIM:300280
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Short neck, Low posterior hairline, Downturned corners of mouth, Wide mouth, Short foot, Thin ver...	OMIM:300860
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility	OMIM:619131
Agnathia-Otocephaly Complex	Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Lo...	OMIM:202650
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:816
Asbestos Intoxication	Reduced vital capacity, Edema, Reduced forced vital capacity, Mediastinal lymphadenopathy, Nonpro...	ORPHA:2302
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Diabetes mellitus, Pneumonia, Bronchial breath sou...	ORPHA:449280
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial septal ...	OMIM:615279
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlordosis, Abnorm...	ORPHA:2839
Cardiomyopathy, Familial Restrictive, 6	Death in infancy, Hydrops fetalis, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites	OMIM:619433
Mucopolysaccharidosis Type 2	Otosclerosis, Irregularity of vertebral bodies, Abnormal mitral valve morphology, Abnormal heart ...	ORPHA:580
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Lymphedema, Webbed neck, In...	ORPHA:99413
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Mosaic Monosomy X	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Lymphedema, Webbed neck, In...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Lymphedema, Webbed neck, In...	ORPHA:99226
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Umbilical hernia, Arthrogryposis multiplex congenita, Scoliosis	OMIM:615834
Turner Syndrome	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Lymphedema, Webbed neck, In...	ORPHA:881
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Exaggerated cupid's bow, Polyhydramnios, Large placenta, Retrognathia, Macro...	ORPHA:254528
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Abnormal pinna morphology, Anteverted ears, Cryptorchidism, Abnormal heart morphology, Microtia, ...	OMIM:617641
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe...	ORPHA:846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Opti...	OMIM:236670
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Orofacial Cleft 13	Oligodontia, Retrognathia, Cleft soft palate, Micrognathia	OMIM:613857
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect, Cupped ear, Cleft palate, Narrow mouth	ORPHA:93946
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Cleft palate	OMIM:217150
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Short neck, Genu valgum, Low posterior hairline, Short ribs, Li...	ORPHA:1803
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Immunodeficiency 49	Decreased proportion of naive CD4 T cells, Natal tooth, Impaired lymphocyte transformation with p...	OMIM:617237
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short neck, Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand m...	OMIM:609945
Syndromic Diarrhea	Villous atrophy, Gastritis, Bicuspid aortic valve, Increased mean platelet volume, Ventricular se...	ORPHA:84064
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis	ORPHA:1545
Chime Syndrome	Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality...	ORPHA:3474
Short Stature-Webbed Neck-Heart Disease Syndrome	Webbed neck, Abnormal heart morphology, Short neck	ORPHA:2865
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Abnormal form of the vertebral bodies, Short palm, Neutropenia, Low-set, ...	ORPHA:175
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Bicuspid aortic valve, Cervical kyphosis, Short neck, Dilated cardiomyopat...	ORPHA:401923
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ...	OMIM:136140
Cohen Syndrome	Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypoplasia o...	ORPHA:193
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m...	OMIM:614856
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec...	ORPHA:96169
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Polyhydramnios, Micrognathia, Knee flexion contractu...	ORPHA:2020
Feingold Syndrome Type 1	Patent ductus arteriosus, Interrupted aortic arch	ORPHA:391641
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Pear-s...	OMIM:602111
Restrictive Dermopathy	Premature delivery because of cervical insufficiency or membrane fragility, Polyhydramnios, Micro...	ORPHA:1662
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct	ORPHA:18
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Sensorineural hearing impairm...	OMIM:154230
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Posteriorly rotated ears, Dextrocardia, Cleft upper lip, Adrenal hypop...	OMIM:264480
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Thick...	OMIM:613804
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth	ORPHA:83473
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Decreased fetal movement, Mixed hearing impairme...	OMIM:614557
Native American Myopathy	Micrognathia, Conductive hearing impairment, Cryptorchidism, Cleft palate, Abnormal curvature of ...	ORPHA:168572
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Micrognathia, Short toe, Oli...	OMIM:617667
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Serkal Syndrome	Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Pulmonic stenosis, Oligoh...	ORPHA:139466
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria...	OMIM:619534
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Submucous cleft hard palate, Irregular vertebral endplates, Coronal cleft vertebrae...	OMIM:222765
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Tongue fascicu...	OMIM:614922
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Limited elbow ...	OMIM:608728
Vacterl Association With Hydrocephalus	Absent thumb, Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Stillbir...	OMIM:276950
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect, Abnormal location of ears	OMIM:218350
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Hardikar Syndrome	Atrial septal defect, Patent foramen ovale, Cleft soft palate, Thoracolumbar scoliosis, Vertigo, ...	OMIM:301068
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea, Kyphoscoliosis, Bilateral cryptorchidism, Macrodontia of permanent maxilla...	ORPHA:466722
Caudal Regression Syndrome	Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor...	ORPHA:3027
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum	OMIM:620393
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormality of the thyroid gland, Hemivertebrae, Abnormal form of the vertebral bodie...	ORPHA:2234
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Anhydramnios	OMIM:619887
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Anterior pituitary hypoplasia, Thoracolumbar kyphoscoliosis, Decreased response to growth hormone...	ORPHA:231720
Immunodeficiency 54	Splenomegaly, Respiratory insufficiency, Adrenocorticotropic hormone excess, Lymphadenopathy, Res...	OMIM:609981
3-Methylglutaconic Aciduria, Type Ix	High palate, Short neck	OMIM:617698
Jansen-De Vries Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated e...	OMIM:617450
Baker-Gordon Syndrome	EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Craniosynostosi...	OMIM:614114
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia	OMIM:275630
Opitz Gbbb Syndrome	Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Patent foramen ov...	ORPHA:2745
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smooth philtrum	OMIM:614526
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Au-Kline Syndrome	Prominent metopic ridge, Thoracolumbar scoliosis, Sagittal craniosynostosis, Craniosynostosis, Su...	OMIM:616580
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Lethal Congenital Contracture Syndrome 2	Decreased fetal movement, Ventricular septal defect, Edema, Micrognathia, Polyhydramnios, Dilated...	OMIM:607598
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Hypoplasia of the premaxilla, External ear malformation, Abnormality of th...	ORPHA:2673
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Feingold Syndrome	Micrognathia, External ear malformation, Esophageal atresia, Sensorineural hearing impairment, Pa...	ORPHA:1305
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta...	ORPHA:1923
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Bicuspid aortic val...	ORPHA:261494
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Mal...	ORPHA:1190
Hurler Syndrome	Death in infancy, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the to...	ORPHA:93473
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Lopes-Maciel-Rodan Syndrome	Ankle clonus, Kyphosis, Scoliosis	OMIM:617435
Mehmo Syndrome	Large earlobe, Diabetes mellitus, Cryptorchidism	ORPHA:85282
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron deficiency anemia, Lym...	ORPHA:1667
Keutel Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Calcification of cartilage, Recurrent otiti...	ORPHA:85202
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Posteriorly rotated ears, Uplifted earlobe, Short neck, Mic...	OMIM:616734
Pelizaeus-Merzbacher Disease	Kyphosis, Arteriovenous malformation, Scoliosis, Joint stiffness	ORPHA:702
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Micrognathia, Knee flexion contracture, Short philtrum, Death in childhoo...	OMIM:210710
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Peripartum Cardiomyopathy	Crackles, Pedal edema, Right ventricular dilatation, Dilated cardiomyopathy, Abnormal atrioventri...	ORPHA:563
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Large earlobe, Microtia, Low-set ears, Patent foramen ovale	OMIM:618076
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Increa...	ORPHA:1860
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
C Syndrome	Ventricular septal defect, Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Crypt...	OMIM:211750
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi...	OMIM:608647
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Perlman Syndrome	Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism	ORPHA:2849
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Hydrops fetalis	ORPHA:834
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Respiratory failure, Tented upper lip vermilion, Scoliosis	OMIM:616505
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Micromelia, Short neck, Micrognathia, Advanced ossification of carpal bones, Cleft...	OMIM:224400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Impaired social interactions, Aggressive behavior	ORPHA:329249
Osteogenesis Imperfecta, Type Ii	Premature birth, Nonimmune hydrops fetalis, Respiratory insufficiency, Platyspondyly, Limb underg...	OMIM:166210
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Spina bifida occ...	OMIM:135500
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Recur...	OMIM:617303
Smith-Mccort Dysplasia 2	Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, F...	OMIM:615222
Ring Chromosome 7 Syndrome	Prominent crus of helix, Situs inversus totalis, Hydrocele testis, Hypogonadism, Small earlobe	ORPHA:1449
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Interru...	ORPHA:2255
Diamond-Blackfan Anemia 11	Radioulnar synostosis, Stenosis of the external auditory canal, Atresia of the external auditory ...	OMIM:614900
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec...	OMIM:619580
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Aplasia/Hypoplasia of the earlobes, Absent earlobe	OMIM:609037
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea...	OMIM:263520
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ribs, Abnor...	ORPHA:174
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Fused thorac...	ORPHA:97360
Hall-Riggs Syndrome	Delayed eruption of teeth, Joint stiffness, Delayed skeletal maturation, Platyspondyly, Scoliosis	ORPHA:2107
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W...	OMIM:617635
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Thromb...	ORPHA:261250
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Redundant neck skin, Posteriorly rotated ears, Craniosynostosis, Optic atrophy, Atre...	OMIM:123790
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Protruding ear, Knee flexion contractu...	OMIM:614976
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Ventricular septal defect, Intestinal malrotation, Dental crowding, Carious teet...	OMIM:617602
Barber-Say Syndrome	Delayed eruption of teeth, Abnormal pinna morphology, Atresia of the external auditory canal, Hea...	ORPHA:1231
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Precocious pu...	OMIM:619312
Cole-Carpenter Syndrome	Delayed eruption of teeth, Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, ...	ORPHA:2050
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Low-set e...	OMIM:614261
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Anteriorly placed anus,...	OMIM:602535
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta ...	ORPHA:91387
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Umbilical hernia	OMIM:618272
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Trichohepatoenteric Syndrome 1	Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Microtia, Pulmonic steno...	OMIM:222470
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Proximal 16P11.2 Microduplication Syndrome	Microtia	ORPHA:370079
Peters Plus Syndrome	Polyhydramnios, Short neck, Micrognathia, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonar...	ORPHA:709
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, High palate, Thick...	OMIM:620113
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Persistence of primary teeth, Prot...	OMIM:610253
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Patent ductus arter...	OMIM:619480
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Chops Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Optic atrophy, Anomalou...	OMIM:616368
Megalencephaly	Atrial septal defect, Macroorchidism, Genu valgum, Short neck	ORPHA:2477
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Ventricular septal defect, Bilateral sensorineural hearing impairment,...	OMIM:619083
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i...	OMIM:620114
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Proximal Spinal Muscular Atrophy	Decreased fetal movement, Neonatal respiratory distress, Hypoventilation, Respiratory insufficien...	ORPHA:70
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Wi...	OMIM:300963
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Sagittal crani...	OMIM:145420
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Vasculitis...	ORPHA:906
Czech Dysplasia	Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ...	OMIM:609162
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Premature birth, Spontaneous neonatal pneumothorax, Delayed closure of the anterior fontanelle, M...	OMIM:225410
C Syndrome	Low-set, posteriorly rotated ears, Joint dislocation, Sacral dimple, Death in infancy, Accessory ...	ORPHA:1308
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Thoracic aortic aneurysm, Hyperlordos...	ORPHA:365
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohy...	ORPHA:163596
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Widel...	ORPHA:268261
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi...	OMIM:309800
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical body rock...	OMIM:300912
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Scoliosis	OMIM:614409
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Prominent metopic ridge, Posteriorly rotated ears, Cranio...	ORPHA:1272
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Pterygium, Patent ...	OMIM:263650
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Respiratory failure, Stroke-like episode	ORPHA:70472
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Maxillonasal Dysplasia, Binder Type	Large earlobe	OMIM:155050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Hypoplastic aortic arch, Joint hypermobility, Scoliosis	ORPHA:457284
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Hypertrophic cardiomyopathy, Adrenal insufficiency, Respiratory failure	OMIM:619386
Bazex-Dupré-Christol Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:113
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Decreased fetal movement, Respiratory failure, Progressive hearing impairme...	OMIM:620166
Mosaic Trisomy 1	Microretrognathia, Thoracic scoliosis, Ventricular septal defect, Abnormal pinna morphology, Camp...	ORPHA:1692
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat...	OMIM:617821
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pa...	ORPHA:2970
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis, Cardiomegaly, I...	OMIM:618838
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Uplifted earlobe, Kyphosis, Cleft palate, ...	OMIM:616449
Fontaine Progeroid Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Anteriorly place...	OMIM:612289
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
Dyggve-Melchior-Clausen Disease	Rhizomelia, Short neck, Respiratory insufficiency due to muscle weakness, Hypoplasia of the odont...	ORPHA:239
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Thanatophoric Dysplasia, Type Ii	Neonatal death, Platyspondyly	OMIM:187601
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum	OMIM:312170
Camptodactyly Syndrome, Guadalajara, Type Iii	Torticollis, Abnormal pinna morphology, Short neck, Retrognathia, Joint contracture of the hand, ...	OMIM:611929
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Microretrognathia, Ventricular septal defect, Hyperlordosis, Patent ductus art...	OMIM:618870
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Patent duct...	OMIM:613680
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Intestinal obstruction, Abnormal dental en...	ORPHA:2323
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Hamartoma of tongue, Micrognathia, Macroglossia, Microtia, High palate, Cleft ea...	OMIM:619775
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Leu...	ORPHA:36238
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate,...	OMIM:268300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil...	ORPHA:500150
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated...	ORPHA:367
Gaucher Disease	Joint dislocation, Death in infancy, Mitral valve calcification, Pancytopenia, Abnormal heart val...	ORPHA:355
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop...	ORPHA:3261
Severe Congenital Nemaline Myopathy	Decreased fetal movement, Premature birth, Polyhydramnios, Edema of the dorsum of hands, Breech p...	ORPHA:171430
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t...	OMIM:618371
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Ruvalcaba Syndrome	Kyphosis, Limited elbow extension, Scoliosis	OMIM:180870
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Cupped ear, Hemivertebrae, Protrud...	OMIM:156200
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment	OMIM:620192
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Atrial septa...	ORPHA:2044
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Joubert Syndrome 18	Trident pelvis, Ventricular septal defect, Kyphoscoliosis, Cleft palate, Lobulated tongue, Retrog...	OMIM:614815
Loeys-Dietz Syndrome 4	Joint laxity, Torticollis, Protrusio acetabuli, Arterial tortuosity, Ascending tubular aorta aneu...	OMIM:614816
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Dysphagia, Low-set ears, Bruxism, Macrotia, Abnormal repetitive m...	OMIM:300260
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Accessory spleen, Thin upper lip vermilion, Rhizomelia, Microg...	ORPHA:3379
Infantile Systemic Hyalinosis	Short palm, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Short...	ORPHA:2176
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Transient ischemic attack, Palpebral edema, Short neck, Micrognathia, Re...	ORPHA:2995
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, Myopa...	OMIM:162300
Hamamy Syndrome	Micrognathia, Microcytic anemia, High palate, Atrial septal defect, Hypoparathyroidism, Cryptorch...	OMIM:611174
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology...	ORPHA:363705
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Re...	ORPHA:258
Cono-Spondylar Dysplasia	Short humerus, Polyhydramnios, Short neck, Kyphosis, Low-set ears, Scoliosis, Short 4th toe, Shor...	ORPHA:420794
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Patent urachus, Interrupted ...	OMIM:618280
Pseudohypoparathyroidism, Type Ii	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	OMIM:203330
Lowry-Wood Syndrome	Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat...	ORPHA:1824
Gapo Syndrome	Prominent scalp veins, Delayed closure of the anterior fontanelle, Micrognathia, Retinal arteriol...	OMIM:230740
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Lymphatic Malformation 1	Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydr...	OMIM:153100
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Respiratory failure requiring assisted ventilation, Micromelia, Short ...	ORPHA:1675
Hereditary Motor And Sensory Neuropathy, Type Iic	Sensorineural hearing impairment, Stridor, Respiratory failure, Scoliosis, Intercostal muscle wea...	OMIM:606071
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia, Hearing impai...	ORPHA:3218
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect, Dental crowding, Supernumerary nipple, Cleft upp...	OMIM:257920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphang...	OMIM:137940
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Craniosynostosis, Micrognathia, Carious teeth, Cryptorch...	ORPHA:96097
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co...	OMIM:612394
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Thickened helices, Con...	OMIM:607872
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short palm, Hypoplasia of the maxilla, Cryptorc...	ORPHA:2588
Zttk Syndrome	Ventricular septal defect, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef...	OMIM:617140
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Micrognathia, Narrow mout...	OMIM:270450
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop...	ORPHA:69735
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Menke-Hennekam Syndrome 2	Recurrent upper respiratory tract infections, Absent earlobe, Hearing impairment	OMIM:618333
Microphthalmia, Syndromic 3	Vertebral fusion, Patent ductus arteriosus, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Crypto...	OMIM:619718
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Patent ductus arteriosus	OMIM:619909
Galloway-Mowat Syndrome 7	Ventricular septal defect, Edema, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, S...	OMIM:618348
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Microtia, Hypoplastic nipples, Low-set ears, Recurrent ot...	ORPHA:261323
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi...	OMIM:604757
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary collat...	OMIM:620025
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Ohdo Syndrome, X-Linked	Posteriorly rotated ears, Micrognathia, Hiatus hernia, Narrow mouth, Cryptorchidism, Long philtru...	OMIM:300895
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Aplastic anemia, Micrognathia, Carious teeth, Cryptorch...	OMIM:223370
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Delayed skeletal maturation, Hyperlordosis	ORPHA:3085
Pituitary Hormone Deficiency, Combined, 3	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,...	OMIM:221750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Low-set ears, Overfriendliness	OMIM:616579
Oculoauricular Syndrome	Stenosis of the external auditory canal, Spina bifida occulta, Absent earlobe, Low-set ears	OMIM:612109
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, High palate, Microdontia...	OMIM:224690
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Recon Progeroid Syndrome	Attached earlobe, Skeletal muscle atrophy, Dental crowding, Thrombocytopenia, Anemia, Microtia, T...	OMIM:620370
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar synostosis, Genu v...	OMIM:171480
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Respiratory failure, Hydrops fetalis, Abnormality of the dentition	ORPHA:88618
Mucopolysaccharidosis, Type X	Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, I...	OMIM:619698
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Uplifted earlobe, Precocious puberty, Abnormal heart morphology, Umbilical hernia, H...	ORPHA:261652
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Posteriorly rotated ears, Narrow mouth, Cryptorchidism, Cleft palate, L...	OMIM:601353
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Microtia, Ventricular septal defect	OMIM:617798
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis, Short neck, ...	OMIM:200995
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Cryptorchidism	ORPHA:90322
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Neutropenia,...	ORPHA:699
Menke-Hennekam Syndrome 1	Short ear, Prominent inferior crus of antihelix, Cryptorchidism, Recurrent upper respiratory trac...	OMIM:618332
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foo...	OMIM:154400
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Posteriorly rotated ears, Short n...	ORPHA:96176
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Coronal cle...	OMIM:215150
Donnai-Barrow Syndrome	Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontan...	ORPHA:2143
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Rett Syndrome, Congenital Variant	Tongue thrusting, Protruding ear, EEG abnormality, Bruxism, Abnormal repetitive mannerisms	OMIM:613454
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure	OMIM:613435
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma...	ORPHA:168563
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Cole-Carpenter Syndrome 2	Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio...	OMIM:616294
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet...	OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 58	Posteriorly rotated ears, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide m...	OMIM:618106
Arthrogryposis, Distal, Type 5	Limited wrist extension, Kyphosis, Distal arthrogryposis, Scoliosis, Congenital finger flexion co...	OMIM:108145
Woods Syndrome	Thin vermilion border, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Neurofibromatosis-Noonan Syndrome	Posteriorly rotated ears, Short neck, Secundum atrial septal defect, Cubitus valgus, Cryptorchidi...	OMIM:601321
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Hypothyroidism, Patent ductus arteriosus, Cryptorchid...	OMIM:620005
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion, ...	ORPHA:90652
Megalocornea-Intellectual Disability Syndrome	EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Protruding ear	ORPHA:2479
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag...	ORPHA:2828
Clark-Baraitser Syndrome	Large earlobe, Low-set ears	OMIM:617752
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Short clavicles...	OMIM:309350
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Asplenia, Cryptorchidism, Mild conductive hearing impairment, ...	ORPHA:221120
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Spina bifida, Hemivertebrae, Irregular ossification of hand bon...	OMIM:109400
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Polyhydramnios, Cardiomegaly, Subchorionic septal cyst, Posterior helix pi...	ORPHA:116
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab...	OMIM:619695
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Cornelia De Lange Syndrome	Micromelia, Short neck, Micrognathia, Downturned corners of mouth, High palate, Widely spaced tee...	ORPHA:199
Omodysplasia 1	Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, C...	OMIM:258315
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Cupped ear, Xerostomia, Microtia, Widely spaced teeth, Enamel hypoplasia, Hearing ...	OMIM:620193
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Joint swelling, A...	OMIM:618175
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Polyhydr...	OMIM:607625
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Small ha...	OMIM:609460
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebr...	ORPHA:168549
White-Sutton Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment,...	ORPHA:468678
Nephrotic Syndrome, Type 11	Ventricular septal defect, Cleft lip, Dilated cardiomyopathy, Cleft palate, High palate, Smooth p...	OMIM:616730
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth ret...	OMIM:620326
Opitz Gbbb Syndrome	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, C...	OMIM:300000
Distal Deletion 19P	Low-set, posteriorly rotated ears, Ventricular septal defect, Hypoplasia of the maxilla, Sensorin...	ORPHA:96129
Hepatic Veno-Occlusive Disease	Respiratory failure, Ascites	ORPHA:890
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Malar flattening, Hiatus hernia, Micrognathia...	OMIM:208050
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Short neck, Micrognathia, Cryptorchidism, Short thumb, Wide mouth, High palate, Shor...	OMIM:620224
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Congenital hip dislocation, Bicuspid aortic valve, Deep philtrum, Short meta...	OMIM:617137
Noonan Syndrome 3	Atrial septal defect, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Ventricular sep...	OMIM:609942
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Non-midline cleft...	ORPHA:1335
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Leigh Syndrome	Sensorineural hearing impairment, Respiratory failure, Abnormal pattern of respiration, Respirato...	OMIM:256000
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer...	ORPHA:436252
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Micrognathia, Ventricular septal defect, Protruding ear	ORPHA:2256
Bohring-Opitz Syndrome	Joint dislocation, Bilateral cleft palate, Prominent metopic ridge, Ventricular septal defect, Po...	OMIM:605039
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Ventricular septal defect, Micrognathia, Cardiomega...	OMIM:614921
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Micrognathia, ...	ORPHA:452
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathia, Conical t...	OMIM:263750
Listeriosis	Back pain, Respiratory distress, Pericarditis, Stiff neck, Miscarriage, Premature birth, Pneumoni...	ORPHA:533
Anauxetic Dysplasia 3	Thoracolumbar kyphoscoliosis, Genu valgum, Platyspondyly, Beaking of vertebral bodies, Hip sublux...	OMIM:618853
Cerebrofacioarticular Syndrome	Absence of pubertal development, Abnormal heart morphology, Microtia, Pulmonic stenosis, Conducti...	ORPHA:314679
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp...	OMIM:220110
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Hyperlordosis, Kyphosis, Scoliosis	OMIM:128100
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Absent earlobe, Hearing impairment, Protruding ear	OMIM:619557
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced te...	OMIM:300967
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Dilatation of the cerebral artery, Microtia, Type II diabetes mellitus, Moyam...	OMIM:210720
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormal heart m...	ORPHA:485405
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Microtia, Low-set ears	OMIM:613603
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's...	ORPHA:261236
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Celiac disease, Abnormality of the thyroid gland, Primary adrenal insufficien...	ORPHA:3143
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe	OMIM:616108
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairmen...	OMIM:618748
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, R...	OMIM:615512
15q26 overgrowth syndrome	Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Shor...	DECIPHER:81
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Chronic otitis media, Bifid uvula, Synostosis of c...	OMIM:101200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Craniosynostosis, Micrognathia, Abnormality of the endocrine system, C...	ORPHA:166035
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic...	OMIM:223800
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Dysphagia, Macrotia, Abnormal repetitive mannerisms	OMIM:619435
Marden-Walker Syndrome	Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs...	ORPHA:2461
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus ...	OMIM:601005
Jacobsen Syndrome	U-Shaped upper lip vermilion, Ventricular septal defect, Short neck, Micrognathia, Pyloric stenos...	OMIM:147791
Kleefstra Syndrome Due To 9Q34 Microdeletion	Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Downturned corners o...	ORPHA:96147
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis	OMIM:619239
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon...	ORPHA:98863
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Pancytopenia, Uplifted earlobe, Hearing impairment	ORPHA:251009
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint contracture o...	ORPHA:69087
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal...	OMIM:617360
Acute Interstitial Pneumonia	Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphade...	ORPHA:79126
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, Osteoporosis, Hip disl...	OMIM:226980
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Arteria...	ORPHA:284984
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Prominent scalp veins, Hyperthyroidism, Posteriorly rotated ears, Hypogonadotropic h...	ORPHA:3455
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious...	ORPHA:96191
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Abnormal pinna m...	OMIM:244450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent ductus arteriosus, Respiratory failure, Atrial septal defect, Intrauterine...	OMIM:620327
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's...	ORPHA:464738
Zellweger Syndrome	Death in infancy, Ventricular septal defect, Micrognathia, External ear malformation, Wide anteri...	ORPHA:912
Alagille Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Micrognathia, Cryptorchidism, Ab...	ORPHA:52
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Persistent left superior vena cava, ...	OMIM:314390
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Submucous cleft hard palate, Dow...	OMIM:619680
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Edema of the dorsum of feet, Polyhydramni...	OMIM:601803
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased fetal movement, Premature birth, Camptodactyly of finger, Tachypnea, Respiratory failur...	OMIM:604320
Peroxisome Biogenesis Disorder 1A (Zellweger)	Posteriorly rotated ears, Ventricular septal defect, Adrenal hypoplasia, Micrognathia, Protruding...	OMIM:214100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pyloric stenosis, Cleft palate, Perimembranous ventricular septal defect, Low-set ears, Narrow mouth	ORPHA:83617
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft palate, Cleft upper lip	OMIM:614402
Mend Syndrome	Thickened nuchal skin fold, Sacral dimple, Abnormal auditory evoked potentials, Micrognathia, Asy...	ORPHA:401973
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate, ...	ORPHA:2167
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Hip dislocation, Scoliosis	ORPHA:464282
Seckel Syndrome	Abnormal earlobe morphology, Absent earlobe	ORPHA:808
Roifman-Chitayat Syndrome	Short metacarpal, Pneumonia, Short neck, Thin lower lip vermilion, Short metatarsal, Arthritis, U...	OMIM:613328
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Abnormal...	ORPHA:125
Galloway-Mowat Syndrome 5	Large earlobe, Hearing impairment	OMIM:617731
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Patent ductus arteriosus, Thin vermilion border, Abnormal aortic valve morph...	ORPHA:86818
Ayme-Gripp Syndrome	Mandibular prognathia, Smooth philtrum, Pericarditis, Thin upper lip vermilion, Posteriorly rotat...	OMIM:601088
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms	OMIM:617393
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Protruding ear, High palate, Long philtrum, Open mouth	OMIM:618798
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con...	ORPHA:90321
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Aplastic anemia, Abnormal dental enamel morpho...	ORPHA:2909
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling	OMIM:612852
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Short neck, Dys...	ORPHA:94089
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh...	OMIM:309500
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala...	OMIM:613795
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Micrognathia, Knee flexion contracture, Abnormal calcification of the car...	OMIM:271665
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Recurrent fractures, Decreased calvarial ossification, Platyspondyly, Wormian bones, ...	OMIM:616229
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Abnormal sensory ne...	ORPHA:88628
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic...	ORPHA:564
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Torticollis, Scoliosis, Hyperlordosis	OMIM:181405
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Posteriorly rotated ears, Cryptorchidism, Dilated cardiomyopathy, Cleft...	OMIM:603736
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation defe...	ORPHA:1005
Hemochromatosis, Neonatal	Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Infantile Liver Failure Syndrome 3	Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys...	OMIM:618641
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Mowat-Wilson Syndrome	Delayed eruption of teeth, Atrial septal defect, Aganglionic megacolon, Pulmonary artery sling, U...	OMIM:235730
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Mixed hearing impairment, Pancytopenia, Pneumonia, Craniosynostosis, Short...	ORPHA:309282
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Short neck, Small hand, Retrognathia, Short foot, Webbed neck, Spina b...	ORPHA:488434
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Prominent metopic ridge, Tented upper lip vermilion, Cryptorch...	ORPHA:363659
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal...	ORPHA:457351
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Posteriorly rotated ears, Ventricular septal defect, Polyhydramnios, Short neck, Cubitus valgus, ...	OMIM:607721
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect, Cryptorchidism	OMIM:613730
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79443
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, ...	ORPHA:2331
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Low-set ears, Anterior creases of earlobe	ORPHA:3038
Pyruvate Dehydrogenase E2 Deficiency	Jerky head movements	OMIM:245348
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis	OMIM:615673
Congenital Disorder Of Glycosylation, Type Iiw	Ventricular septal defect, Micrognathia, Microcytic anemia, Thrombocytopenia, Supernumerary tooth...	OMIM:619525
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct...	ORPHA:2519
48,Xxyy Syndrome	Chronic otitis media, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:10
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Breech presentation, Cryptorchidism, Sensorineural hearing impairment, Respirator...	OMIM:619847
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cry...	OMIM:613457
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Short neck, Cryptorchidism, Hypoplasia of the ovary, Hypogonad...	ORPHA:110
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Short 5th metacarpal, Abnormality of the dentition	ORPHA:1264
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Sensorineural hearing impairment, Microtia, Neonatal death, Low-set ears, Typ...	OMIM:618500
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Tongue fasciculations, Congenital laryngeal stridor	ORPHA:2254
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Dilated cardiom...	OMIM:310200
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadi...	ORPHA:79444
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Hearing impairment, Micro...	ORPHA:2556
Mosaic Trisomy 16	Abnormal ear morphology, Ventricular septal defect, Single coronary artery origin, Maternal diabe...	ORPHA:1708
Hennekam-Beemer Syndrome	Camptodactyly of finger, Mastocytosis, Micrognathia, Thick lower lip vermilion, Microtia, High pa...	ORPHA:2135
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Short neck, Thrombocytopenia, Patent ductus arteriosu...	ORPHA:505248
Galactosialidosis	Hepatosplenomegaly, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hearing impairment	OMIM:256540
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98855
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, High palate, Long ear, Foot oli...	OMIM:276820
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Descending aortic dissection, Mitral valve prolapse, Varicose veins, Dilatation o...	OMIM:130050
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Extra concha fold, Micrognathia,...	OMIM:209885
Achondroplasia	Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Spinal canal stenosis, Flat acetabular r...	ORPHA:15
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy...	OMIM:610915
Ruvalcaba Syndrome	Kyphosis, Abnormality of the elbow, Scoliosis, Abnormal vertebral epiphysis morphology, Synostosi...	ORPHA:3121
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal b...	ORPHA:70578
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Coloboma	OMIM:615877
Smith-Magenis Syndrome	EEG abnormality, Self-injurious behavior, Attention deficit hyperactivity disorder, Conductive he...	ORPHA:819
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology, Myopathy, Abnor...	ORPHA:2238
Faciocardiorenal Syndrome	Cleft palate, Protruding ear, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, N...	ORPHA:1973
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Irregular vertebral endplates, High palate, Atri...	OMIM:271640
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Decreased skull ossification	OMIM:300863
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipp...	OMIM:618454
Sillence Syndrome	Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp...	ORPHA:3168
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetitive mannerisms, ...	ORPHA:261197
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Respiratory failure, Abnormal...	OMIM:609015
Schneckenbecken Dysplasia	Hypoplastic scapulae, Polyhydramnios, Short neck, Lymphedema, Cryptorchidism, Micromelia, Cleft p...	ORPHA:3144
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Delayed closure of th...	OMIM:224300
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper...	OMIM:300352
Huntington Disease-Like 3	Abnormal head movements	ORPHA:157946
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal dental enamel morphology, Aplastic clavicle, Kyphosis, High, narr...	ORPHA:2658
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology	ORPHA:3222
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Death in childhood,...	OMIM:617186
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Abnormal pinna morphology, Micrognathia, M...	ORPHA:3078
Foxg1 Syndrome	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism	ORPHA:561854
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Downtur...	ORPHA:444077
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Craniofrontonasal Syndrome	Short neck, Cleft upper lip, Cryptorchidism, Abnormality of the dentition, Congenital pseudoarthr...	OMIM:304110
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Duodenal polyposis, Short neck, Micrognathia, Abnormality of canine, Adeno...	ORPHA:261584
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat...	OMIM:271510
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Sc...	OMIM:614961
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Posteriorly rotated ears, Micrognathia, Cupped ear, Atresia of the external ...	ORPHA:264200
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Microtia, Camptodactyly, Narrow mouth, Breast hypoplasia, Smooth philtrum	OMIM:613800
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	OMIM:603233
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be...	OMIM:615656
Acro-Renal-Ocular Syndrome	Vertebral fusion, Vertebral segmentation defect, Tetralogy of Fallot	ORPHA:959
Mccune-Albright Syndrome	Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c...	OMIM:174800
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Xq12-Q13.3 Duplication Syndrome	Decreased serum insulin-like growth factor 1, Cryptorchidism, Recurrent upper respiratory tract i...	ORPHA:314389
Bent Bone Dysplasia Syndrome 2	Osteopenia, Thickened nuchal skin fold, Short neck, Coronal cleft vertebrae, Platyspondyly, Decre...	OMIM:620076
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Ly...	OMIM:600268
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Loeys-Dietz Syndrome 2	Descending thoracic aorta aneurysm, Dilatation of mesenteric artery, Abdominal aortic aneurysm, J...	OMIM:610168
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventr...	OMIM:618052
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s...	ORPHA:2363
Schaaf-Yang Syndrome	Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:615547
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms, Multifocal epileptiform discharges, EEG with spike-wave complexes...	OMIM:619317
Saul-Wilson Syndrome	Prominent superficial veins, Hypoplasia of the odontoid process, Madelung deformity, Irregular ve...	OMIM:618150
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta, Vascular dilatation	OMIM:607323
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus...	ORPHA:141127
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Galloway-Mowat Syndrome	Camptodactyly of finger, Hiatus hernia, Micrognathia, Abnormality of the dentition, Hypoplasia of...	ORPHA:2065
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus...	OMIM:614576
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Cryptorchidism, Orofacial cleft, Microtia, Narrow mo...	ORPHA:3301
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi...	OMIM:607015
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy...	OMIM:618019
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
6Q Terminal Deletion Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Short...	ORPHA:75857
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Aortic arch aneurysm, Abnormal heart valve morphology, Cryptor...	ORPHA:1606
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical instability, Thorac...	OMIM:617425
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Short neck, Secundum atrial septal defect, Subarterial ventricular septal d...	ORPHA:99646
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Wormian bones, Short neck, Metopic suture patent to nasal root, Splenopa...	OMIM:269150
Marinesco-Sjogren Syndrome	Cubitus valgus, Kyphosis, Flexion contracture, Scoliosis	OMIM:248800
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Supernumerary nipple, Large earlobe, Hyp...	ORPHA:1236
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set ears, Dysphagia, Abnormal re...	ORPHA:447997
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Tarsal synostosis, Delayed cranial suture closure, Micrognathia, Abno...	ORPHA:85199
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Hearing impairment, Micrognathia, Nephrogenic diabet...	OMIM:208085
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements	ORPHA:247815
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Meier-Gorlin Syndrome 6	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cryptorchidism, ...	OMIM:616835
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Seckel Syndrome 9	Ventricular septal defect, Micrognathia, Protruding ear, Pulmonary artery hypoplasia, Atrial sept...	OMIM:616777
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Ventricular septal defect, Cervical kyphosis, Hypoplasia of the maxilla...	ORPHA:79345
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98853
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Micromelia, Short neck, Hyposegmentation of neutrophil nuclei, Thin vermilion border, Hypoplasia ...	OMIM:614800
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Micrognathia, Precocious puberty, Sensorineural hearing impairment,...	OMIM:618971
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H...	OMIM:309580
Metachromatic Leukodystrophy, Adult Form	Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme...	ORPHA:309271
Boutonneuse Fever	Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Respiratory failure, Thrombocy...	ORPHA:83313
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Melkersson-Rosenthal Syndrome	Edema, Periorbital edema, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia	ORPHA:2483
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dilation of Virchow-Robin spaces, Micrognathia, Hyperlordosis, Dental malocclusion, Hypoplastic s...	ORPHA:73223
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Large earlobe, Overfolded helix, Prominent antitragus, Protruding ear	OMIM:620191
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Patent foramen ovale, Hypothyroidism, Simple ear, Cryp...	OMIM:619325
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Protruding ear, Low-set ears, Webbed n...	ORPHA:1587
Spondyloenchondrodysplasia	Delayed eruption of teeth, Kyphosis, Vasculitis, Arthritis, Platyspondyly, Juvenile rheumatoid ar...	ORPHA:1855
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia	OMIM:184253
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Impaired social interacti...	OMIM:610042
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy	ORPHA:79330
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Abnormal heart valve morphology, Abnorma...	ORPHA:280
Phelan-Mcdermid Syndrome	Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia, Abnormal repetitive man...	OMIM:606232
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Joint hypermobility, Camptodactyly of finger, Kyphosis, Scolios...	OMIM:619951
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ...	OMIM:619575
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Dil...	OMIM:613658
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato...	ORPHA:308552
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility...	OMIM:259770
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Bile duct proliferation, Atri...	OMIM:611134
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Low-set ears, Right ...	OMIM:613404
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Hyperinsulinemia	ORPHA:363400
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Platyspondyly, Cystic hygroma, Vertebral wedging	OMIM:617866
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Intraventricular hemorrhage, Neonatal asphyxia, Recurrent...	ORPHA:420741
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Long neck, O...	OMIM:304150
Schwannomatosis, Vestibular	Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat...	OMIM:101000
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Knee...	OMIM:620351
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Abnormal heart valve morphology, Arterial dissection, Transient...	ORPHA:286
Codas Syndrome	Delayed eruption of teeth, Atrial septal defect, Congenital hip dislocation, Ventricular septal d...	OMIM:600373
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Splenomegaly, Hydrops fetalis, Respiratory insufficiency, ...	ORPHA:646
Tibial Muscular Dystrophy	Cardiomyopathy, Respiratory failure	ORPHA:609
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,...	OMIM:147920
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Redundant neck skin, Dental crowding, Short metacarpal, Polyhydramnios, Short neck...	OMIM:617157
Acrofacial Dysostosis, Rodríguez Type	Microtia	ORPHA:1788
Geleophysic Dysplasia 3	Subglottic stenosis, Premature birth, Pneumonia, Limited elbow movement, Limited wrist movement, ...	OMIM:617809
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Uplifted earlobe	OMIM:300143
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma	OMIM:162260
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of f...	ORPHA:2604
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Microtia, Low-set ears, Death in childhood	OMIM:614643
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Iris coloboma	ORPHA:2250
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con...	ORPHA:536471
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Townes-Brocks Syndrome 2	Overfolded helix, Cupped ear, Microtia	OMIM:617466
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Posteriorly rotated ears, Trismus, Deep philtrum, Cryptorchidism, Dental malocc...	OMIM:227330
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Osteoporosis, Scoliosis	OMIM:615381
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly...	OMIM:619636
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di...	ORPHA:168491
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Short neck, Cryptorchidism, High palate, Widely spaced ...	OMIM:615803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Ankle clonus, Respiratory failure	OMIM:613954
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Decreased respons...	OMIM:610978
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Posteriorly rotated ears, Multifocal epileptiform discharges, Hypsarr...	OMIM:619229
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:263630
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Kyphosis, Descendi...	ORPHA:558
Idiopathic Pulmonary Hemosiderosis	Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restrictive ventilat...	ORPHA:99931
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent...	ORPHA:309263
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Microsporidiosis	Myositis, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphadenitis, Myocard...	ORPHA:2552
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Anemia, Death in childhood	OMIM:615838
Mckusick-Kaufman Syndrome	Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorchidism, Patent ductu...	ORPHA:2473
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Sensorineural hearing impairment, Dy...	OMIM:615636
Esophageal Atresia	Subglottic stenosis, Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Matern...	ORPHA:1199
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Abnor...	ORPHA:494344
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas...	OMIM:208900
Meier-Gorlin Syndrome 3	Microretrognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hyp...	OMIM:613803
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Ventricular septal defect, Dextrocardia, Situs inversus totalis	OMIM:616037
Lacrimoauriculodentodigital Syndrome 1	Lacrimal gland aplasia, Mixed hearing impairment, Hypoplasia of the ulna, Absence of Stensen duct...	OMIM:149730
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Posteriorly rotated ears, Microtia, Low-set ears, Breast hypoplasia	OMIM:614813
Pallister-Hall Syndrome	Adrenal hypoplasia, Hemivertebrae, Gonadotropin deficiency, Atrial septal defect, Atrioventricula...	ORPHA:672
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defe...	ORPHA:769
Pfeiffer Syndrome Type 2	Atresia of the external auditory canal, Low-set ears	ORPHA:93259
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Orofacial cleft, Thin vermil...	ORPHA:1519
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu...	ORPHA:653
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Micrognathia, Biliary hyperplasia, Hypersplenism, Panc...	ORPHA:731
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio...	OMIM:608328
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Leukodystrophy, Hypomyelinating, 22	Short neck	OMIM:619328
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation...	ORPHA:77259
19Q13.11 Microdeletion Syndrome	Congenital hip dislocation, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide...	ORPHA:217346
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Ventricular septal defect, Cryptorchidism, Sensorineural hea...	OMIM:107480
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough	OMIM:263000
Limb-Mammary Syndrome	Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Bilateral breast hypop...	ORPHA:69085
Bosma Arhinia Microphthalmia Syndrome	Abnormal pinna morphology, Absent tragus, Dental malocclusion, Hypoplasia of teeth, Atresia of th...	OMIM:603457
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal autonomic nervous system physi...	ORPHA:300570
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t...	OMIM:607823
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology	ORPHA:324737
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Dental crowding, Cholelithiasis, Microdontia, Splenomegaly, Patent duc...	OMIM:618268
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Micrognathia, Cleft upper lip, Esophageal atresia, Cryptorchidism, Hydrop...	ORPHA:93271
15Q24 Microdeletion Syndrome	Joint laxity, Kyphosis, Myelomeningocele, Scoliosis	ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Kyphosis	OMIM:300354
Birk-Barel Syndrome	Microretrognathia, Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submuc...	OMIM:612292
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Persistent open anterior fontanelle, Ventricular septal defect, Stippled chondr...	OMIM:614866
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Ivic Syndrome	Intestinal malrotation, Limited elbow movement, Limited wrist movement, Thrombocytopenia, Patent ...	OMIM:147750
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Sagittal cranios...	OMIM:615879
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Microtia, Hypoplasia of the zygomatic bone, A...	ORPHA:920
Basilar Impression, Primary	Craniofacial asymmetry, Abnormal cervical myelogram, Kyphoscoliosis, Short neck	OMIM:109500
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Microtia	ORPHA:319675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Abnormal pinna morphology, Posteriorly rotated ears, Ventricular septal def...	OMIM:616975
Juvenile Neuronal Ceroid Lipofuscinosis	Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Malabsorption, Thromboc...	OMIM:557000
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Long Qt Syndrome 3	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:603830
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Thick lower lip vermilion, Advanced ossification of carpal bones, Flat acetabular roo...	OMIM:610442
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly	ORPHA:163966
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms	ORPHA:280763
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Vertebral segmentation defect, Atrial...	ORPHA:2911
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG...	ORPHA:649
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno...	ORPHA:733
Meester-Loeys Syndrome	Joint dislocation, Joint hypermobility, Cervical spine instability, Ascending tubular aorta aneur...	OMIM:300989
Fraser Syndrome 1	Encephalocele, Subglottic stenosis, Laryngeal stenosis, Abnormal pinna morphology, Abnormal corti...	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho...	ORPHA:2710
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasc...	OMIM:620296
Acute Lung Injury	Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Leigh Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Respiratory failure, Neutropenia, In...	ORPHA:506
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Short neck	OMIM:610832
Proteus Syndrome	Lymphedema, Neoplasm of the thymus, Pulmonary embolism, Abnormal form of the vertebral bodies, Ab...	ORPHA:744
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Decreased testicular size, Ve...	ORPHA:459070
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Mowat-Wilson Syndrome	Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,...	ORPHA:2152
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Hypsarrhythmia, Continuous spike and waves during slow...	OMIM:619428
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Large earlobe	OMIM:618346
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Premature birth, Respiratory insufficiency, Anemia, Leukopenia, ...	OMIM:613845
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Generalized joint laxity, Genu valgum, Platyspondyl...	OMIM:613848
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Absent earlobe, Low-set ears	OMIM:130070
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abno...	ORPHA:261552
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Thoracic Dysplasia-Hydrocephalus Syndrome	Conductive hearing impairment, Respiratory failure, Limb undergrowth	ORPHA:1861
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Faundes-Banka Syndrome	Thin upper lip vermilion, Premature thelarche, Cryptorchidism, Cupped ear, Cleft palate, Microtia...	OMIM:619376
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abno...	ORPHA:261537
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft pala...	ORPHA:306542
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Aceruloplasminemia	Abnormality of retinal pigmentation, Abnormal pancreas morphology, Macular degeneration, Hepatic ...	ORPHA:48818
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea...	ORPHA:60025
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Abnormality of the dentition, Adrenocortical carcin...	ORPHA:79665
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat...	OMIM:607944
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosynostosis...	OMIM:609192
Infant Acute Respiratory Distress Syndrome	Premature birth, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary e...	ORPHA:70587
Malignant Atrophic Papulosis	Intestinal fistula, Abnormal pericardium morphology, Intestinal perforation, Vertigo, Respiratory...	ORPHA:679
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Cryptorchidism, Anophthalmia	ORPHA:1101
Alexander Disease	Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Respiratory insuffici...	ORPHA:58
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Loeys-Dietz Syndrome	Joint dislocation, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity, Patent ductus ...	ORPHA:60030
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Aortic root aneurysm, Craniosynostosis, Hyperextensibility of the finger joints	OMIM:616914
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ...	OMIM:266200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Large earlobe	OMIM:615716
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Antevert...	OMIM:613884
Alstrom Syndrome	Kyphosis, Accelerated skeletal maturation, Scoliosis, Atherosclerosis	OMIM:203800
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, L...	OMIM:619306
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, External ear malformation, Cryptorchidism, Patent ductus art...	ORPHA:857
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Premature birth, Cardiomegaly, Pericardial ef...	ORPHA:555874
Pseudohypoparathyroidism Type 2	Calcinosis, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	ORPHA:94090
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Abn...	ORPHA:2847
Tularemia	Pharyngitis, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopath...	ORPHA:3392
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital con...	OMIM:619036
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Thoracoabdominal Syndrome	Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition of the great ...	OMIM:313850
Saethre-Chotzen Syndrome	Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart ...	OMIM:101400
Harrod Syndrome	Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2115
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Gaucher Disease Type 3	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Decreased fetal movement, Dyspnea, Patent ductus arteriosus, Dilated cardiomyop...	OMIM:610505
Achondroplasia	Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar kyphosis in infancy...	OMIM:100800
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Dilated Cardiomyopathy With Ataxia	Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing impairment	ORPHA:66634
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration, Vertebral segmentation defect, Atresia of the external auditor...	ORPHA:3186
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Thrombocytopenia-Absent Radius Syndrome	Spina bifida, Patent ductus arteriosus, Patellar aplasia, Hip dislocation, Coarctation of aorta, ...	OMIM:274000
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Periorb...	ORPHA:904
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Miscarriage, Costal cartilag...	OMIM:245150
Monosomy 13Q34	Common atrium, Posteriorly rotated ears, Abnormal earlobe morphology, Pulmonic stenosis	ORPHA:96168
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal def...	OMIM:620330
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short neck, Hepatosplenomegaly, Stomatocytosis, Macrotia, Broad neck	ORPHA:168577
Developmental And Epileptic Encephalopathy 80	Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe, Low-set ears, Overfolded h...	OMIM:618580
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col...	OMIM:175100
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Ankle clonus, Aortic root aneurysm, Type II diabetes mellitus, Delay...	OMIM:618891
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arteriovenous malformation,...	ORPHA:137667
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Micrognathia, Short neck, Cryptorchidism, Tented philtrum, Anteriorly placed anus, Low-set ears, ...	ORPHA:495875
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Everted upper lip vermilion, Posteriorly rotated ears, Hypoplastic philt...	OMIM:618918
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Cockayne Syndrome B	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Craniosynostosis, Micrognathia, Thick vermilion border, Low-set ears, ...	OMIM:250410
Cockayne Syndrome A	Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:216400
Aicardi Syndrome	Block vertebrae, Spina bifida, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:304050
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Apnea, Splenomegaly, Sensorineural hearing impairment, Concentric hypertrophic ...	OMIM:252010
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Cardiomyopathy, Respiratory failure, Bone marrow hypocellularity, Infection associa...	ORPHA:445038
Chromosome 1P35 Deletion Syndrome	Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Anterior creases of e...	OMIM:617930
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Donnai-Barrow Syndrome	Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation, Wide anterior fontan...	OMIM:222448
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Ventricular septal defect, Orofacial cleft	OMIM:615630
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma	OMIM:608266
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Achilles tendon calcification, Elevated circulating parathyroid hormone ...	OMIM:617994
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Large earlobe, Hypogonadism, Decreased testicular size, Hearing impairment	ORPHA:127
Trichothiodystrophy 4, Nonphotosensitive	Macrotia, Ventricular septal defect, Retrognathia, Hypoplasia of teeth	OMIM:234050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, D...	OMIM:301044
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis...	ORPHA:288
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Combined Oxidative Phosphorylation Deficiency 37	Sensorineural hearing impairment, Respiratory insufficiency, Respiratory failure, Bile duct proli...	OMIM:618329
Fraser Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Subglottic stenosis, Laryngeal stenosis, Extern...	ORPHA:2052
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Low-set ears	OMIM:618325
Focal Dermal Hypoplasia	Ventricular septal defect, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormal d...	ORPHA:2092
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Optic atrophy, Retinal dys...	ORPHA:2526
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology...	ORPHA:79404
Nephronophthisis 2	Situs inversus totalis, Respiratory failure, Respiratory insufficiency, Oligohydramnios	OMIM:602088
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, P...	ORPHA:1465
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Platyspondyly, Delayed eruption of permanent teeth, Scoliosis, Large knee	OMIM:619269
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity...	ORPHA:98784
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in...	OMIM:619512
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi...	OMIM:309801
Classic Homocystinuria	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Intracranial hemorrhag...	ORPHA:394
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Intrauterine growth retardation	OMIM:610678
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Hydrocephalus, Optic atrophy, ...	OMIM:619321
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Patent ductus arteriosus, Sensorineural hearing impairment, Hypopnea, Re...	OMIM:617248
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, High palate, Retrognathia	OMIM:617164
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Palmoplantar Carcinoma, Multiple Self-Healing	Long philtrum, Chronic rhinitis, Short neck	OMIM:615225
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio...	OMIM:277600
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Aspartylglucosaminuria	Mandibular prognathia, Macroorchidism, Malabsorption, Carious teeth, Abnormality of the dentition...	ORPHA:93
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card...	ORPHA:444013
Microphthalmia, Lenz Type	Delayed eruption of teeth, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Webbed neck	ORPHA:568
Jaberi-Elahi Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Joint stiffness	OMIM:617988
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Abnormal pinna morphology, Ventricular septal defect, Polyhyd...	OMIM:236680
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef...	OMIM:615849
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hearing impairment, Cryptorchidism, Wide mou...	OMIM:618846
Weaver Syndrome	Dysharmonic bone age, Accelerated skeletal maturation, Kyphosis, Patent ductus arteriosus, Scolio...	OMIM:277590
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands, Lymphedema	OMIM:300291
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dislocation, Abnormal...	OMIM:194190
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Delayed cranial suture closure, Venous insufficiency, Kyphosis, Avascul...	ORPHA:198
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor...	OMIM:171400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Finger joint hypermobility, Sc...	OMIM:618493
Sponastrime Dysplasia	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Avascular necrosis of the capital femoral epi...	ORPHA:93357
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Poliomyelitis	Respiratory failure requiring assisted ventilation, Stiff neck, Paralytic ileus, Respiratory fail...	ORPHA:2912
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Left ventricu...	ORPHA:746
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Scol...	ORPHA:2215
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Scoliosis	ORPHA:88644
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Holoprosencephaly, Cleft palate	ORPHA:250999
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Genu valgum, Scoliosis	OMIM:618443
Coffin-Lowry Syndrome	Delayed eruption of teeth, Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral ...	ORPHA:192
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia...	ORPHA:141099
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Spondylometaphyseal Dysplasia, Sedaghatian Type	11 pairs of ribs, Short metacarpal, Posteriorly rotated ears, Rhizomelia, Short neck, Myocarditis...	OMIM:250220
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f...	OMIM:301066
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Aicardi Syndrome	Block vertebrae, Butterfly vertebrae, Scoliosis	ORPHA:50
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Accelerated skeletal maturation	OMIM:300942
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver...	ORPHA:508533
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Neuroocular Syndrome	Sacral dimple, Genu recurvatum, Unilateral deafness, Short uvula, Submucous cleft hard palate, Cu...	OMIM:619539
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin vermilion border, High ...	OMIM:619869
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Trisomy 18	Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Camptodactyly of...	ORPHA:3380
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma...	OMIM:615485
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm...	ORPHA:99880
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Sensorineural hearing impairment, Mitral valve ...	OMIM:617107
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s...	ORPHA:273
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi...	ORPHA:3255
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Bone Marrow Failure Syndrome 3	Hyperactivity, Pancreatic steatosis, Cryptorchidism, Retinal dysplasia, Hyperechogenic pancreas, ...	OMIM:617052
Adnp Syndrome	Cryptorchidism, Microtia, Low-set ears, Protruding ear	ORPHA:404448
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm...	ORPHA:143
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Ventricular septal defect, Polyhydramnios	OMIM:219730
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Ventricular septal defe...	ORPHA:2729
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Coffin-Siris Syndrome 1	Conical tooth, High palate, Short philtrum, Atrial septal defect, Microdontia, Spina bifida occul...	OMIM:135900
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosis	OMIM:239000
Hypophosphatemic Rickets And Hyperparathyroidism	Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level	OMIM:612089
Degcags Syndrome	Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foram...	OMIM:619488
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Scoliosis	OMIM:211530
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Vertebral segmentation defect, Atrial septal defect, Posterior helix pit, ...	OMIM:312870
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth ho...	OMIM:604292
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Sensorineural hearing impairment, Hydrops...	OMIM:602522
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Buphthalmos, Retinal nonattachment, Microphthalmia, Iris...	OMIM:221900
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Sensorineural hearing impa...	ORPHA:500095
Hepatoerythropoietic Porphyria	Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of t...	ORPHA:95159
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
Rett Syndrome	EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Abnormal repetitive man...	ORPHA:778
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Nonimmune hydrops fetalis, Anisocytosis, Edema,...	ORPHA:79277
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Optic nerve hypoplasia, Self-injurious beha...	ORPHA:468631
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Atrial septal defect, Bifid uvula, Microretrognathia, Death in inf...	OMIM:270400
Abetalipoproteinemia	Reticulocytosis, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Respiratory failure, Steatorrhea, ...	ORPHA:14
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Intracranial hemorr...	ORPHA:340
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Osteolysis, Abnormal form of the vertebral bodies...	ORPHA:3042
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Pagod Syndrome	Encephalocele, Spina bifida, Situs inversus totalis, Abnormality of the spleen, Meningocele, Pulm...	ORPHA:991
Cyclic Neutropenia	Pharyngitis, Premature loss of permanent teeth, Sinusitis, Perianal abscess, Enterocolitis, Oral ...	ORPHA:2686
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Low-set ears, EEG with...	ORPHA:369837
Alagille Syndrome 1	Peripheral pulmonary artery stenosis, Ventricular septal defect, Hemivertebrae, Tetralogy of Fall...	OMIM:118450
Full Nf2-Related Schwannomatosis	Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Sensorineural hearing impairment, Peri...	ORPHA:637
Trichothiodystrophy	Joint dislocation, Ventricular septal defect, Craniosynostosis, Hypoplasia of mandible relative t...	ORPHA:33364
Atelis Syndrome 2	Patent ductus arteriosus, Kyphosis, Sacral dimple	OMIM:620185
Micro Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:2510
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Unilateral deafness, Edema	OMIM:612097
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto...	OMIM:618278
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Spondyloocular Syndrome	Osteopenia, Low posterior hairline, Platyspondyly, Webbed neck, Vertebral compression fracture	OMIM:605822
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Delay...	OMIM:603116
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ...	ORPHA:363958
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar...	OMIM:100300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adrenocortical carcinoma, Supernumerary tooth, Aden...	ORPHA:247806
Isolated Arrhinia	Microtia	ORPHA:1134
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Cleft palate, Parathyroid hypoplasia, Abnormal heart morph...	ORPHA:2237
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum	ORPHA:314647
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Facial diplegia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggres...	OMIM:619121
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh...	ORPHA:466791
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Rodrigues Blindness	Microphthalmia	OMIM:268320
Severe Oculo-Renal-Cerebellar Syndrome	Large earlobe, Macrotia	ORPHA:2715
Developmental And Epileptic Encephalopathy 84	Large earlobe	OMIM:618792
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Car...	ORPHA:805
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp...	OMIM:225400
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Protruding ear, Low-set ears,...	OMIM:309590
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overfolded helix, Abnormal repetitive mannerisms, Low-set ears	OMIM:618653
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Cryptorchidism, Optic atrophy, Hypoplastic nipples, Chorioret...	OMIM:305600
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Kyphosis, Patent ductus arteriosus, Cryptor...	ORPHA:464311
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per...	OMIM:613001
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Cleft palate, Low-set ears, Adrenal g...	OMIM:273395
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia	ORPHA:158684
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, Kyphosis, Scoliosis	ORPHA:476126
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:175050
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Hi...	OMIM:619418
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Temtamy Syndrome	Microphthalmia	OMIM:218340
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Pyloric stenosis, Kyphosis, Patent duct...	ORPHA:464306
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Pontocerebellar Hypoplasia, Type 2E	Large earlobe	OMIM:615851
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Restric...	OMIM:619475
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulinemia, Premature arterios...	ORPHA:79474
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency	OMIM:260370
Sotos Syndrome	No permanent dentition, Pedal edema, Atrial septal defect, Conductive hearing impairment, Chronic...	ORPHA:821
Glycogen Storage Disease Xii	Normocytic anemia, Short neck, Splenomegaly, Low posterior hairline, Normochromic anemia, Delayed...	OMIM:611881
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Holt-Oram Syndrome	Thoracic scoliosis, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arter...	OMIM:142900
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Hyperlordosis, Kyphosis, Long neck, Scoliosis	OMIM:617011
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,...	ORPHA:31204
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Lim...	ORPHA:576
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Scoliosis	ORPHA:500055
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hyperlordosis, Abnormal heart morphology...	ORPHA:363700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Open mouth, Ventricular septal defect, Low-set ears	OMIM:614653
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis, Genu varum	ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Posteriorly rotated ears, Micrognathia, Hiatus hernia, Narrow mouth, Thick lower lip v...	OMIM:614756
Senior-Loken Syndrome 8	Pancreatic cysts, Macular atrophy, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Stickler Syndrome	Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi...	ORPHA:828
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Multiple Epiphyseal Dysplasia Type 4	Abnormal pinna morphology, Abnormal earlobe morphology, Low-set ears	ORPHA:93307
Encephalitis Lethargica	Pharyngitis, Limitation of neck motion, Stiff neck	ORPHA:83600
Ramon Syndrome	Delayed eruption of teeth, Kyphosis, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Cockayne Syndrome Type 3	Kyphosis, Flexion contracture, Subdural hemorrhage, Aortic root aneurysm, Stroke, Scoliosis, Vasc...	ORPHA:90324
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Aspartylglucosaminuria	Joint laxity, Kyphosis, Delayed skeletal maturation, Platyspondyly, Spondylolysis, Scoliosis, Pat...	OMIM:208400
Holoprosencephaly 2	Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard palate, Absent nasal septal c...	OMIM:157170
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Flat acetabular roof, Pterygium	OMIM:211350
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Patellar dislocation, Scoliosis	ORPHA:261349
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear...	OMIM:615873
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc...	OMIM:227645
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed skeletal maturation, Platyspondyly, Accelerated skeletal maturation	ORPHA:93317
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Williams-Beuren Syndrome	Atrial septal defect, Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Retina...	OMIM:194050
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Ablepharon-Macrostomia Syndrome	Microtia, third degree, Anteriorly placed anus, Short upper lip, Wide mouth, Hypoplastic nipples,...	OMIM:200110
17Q11 Microdeletion Syndrome	Osteopenia, Abnormal internal carotid artery morphology, Kyphosis, Osteoporosis, Osteolysis, Coar...	ORPHA:97685
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Autosomal Dominant Severe Congenital Neutropenia	Pharyngitis, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia,...	ORPHA:486
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, EEG abnormality, EEG wit...	ORPHA:522077
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Optic atrophy, True anophthalmia	ORPHA:1106
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En...	ORPHA:449432
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip...	ORPHA:93311
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ...	ORPHA:26793
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing en...	OMIM:619991
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Chronic Beryllium Disease	Pharyngitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios	OMIM:615503
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Long neck, Limitation of joint mobi...	ORPHA:457359
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant...	OMIM:300106
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v...	OMIM:309000
Eisenmenger Syndrome	Ventricular septal defect, Vertigo, Patent ductus arteriosus, Hypochromic microcytic anemia, Aort...	ORPHA:97214
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Hyperextensibility of the finger joints, Contractures of the large joints	ORPHA:521426
Vater/Vacterl Association	Occipital encephalocele, Laryngeal stenosis, Abnormal nasopharynx morphology, Ventricular septal ...	OMIM:192350
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Developmental And Epileptic Encephalopathy 2	EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:300672
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Refsum Disease	Microphthalmia	ORPHA:773
Camurati-Engelmann Disease	Delayed eruption of teeth, Hyperlordosis, Kyphosis, Craniofacial osteosclerosis, Bone pain, Limit...	ORPHA:1328
Whim Syndrome	Pharyngitis, Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Recurrent uppe...	ORPHA:51636
Renal Agenesis	Ventricular septal defect, Anal atresia, Oligohydramnios	ORPHA:411709
Legius Syndrome	Vestibular schwannoma, Neurofibroma, Scoliosis, Hearing impairment	ORPHA:137605
Ulnar-Mammary Syndrome	Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Cryptorchidism, Ectopic anu...	ORPHA:3138
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed cranial suture closure...	OMIM:278250
Microphthalmia, Syndromic 6	Anophthalmia, Cryptorchidism, Coloboma, Microphthalmia, Anterior hypopituitarism	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Fanconi Anemia, Complementation Group D2	Microphthalmia, Cryptorchidism, Annular pancreas, Attention deficit hyperactivity disorder	OMIM:227646
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Contractures of the large joints	OMIM:617527
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Scoliosis	ORPHA:398069
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Contracture of the proximal interphalan...	ORPHA:2232
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Arterial stenosis, Genu valgum, Scoliosis, Genu v...	ORPHA:636
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Buphth...	OMIM:610199
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Knee flexion contracture	OMIM:619708
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Lujo Hemorrhagic Fever	Pharyngitis, Stiff neck, Myocarditis, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319213
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp...	OMIM:619381
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hepatocellular carcinoma, Pancreatitis	OMIM:232220
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Severe Acute Respiratory Syndrome	Pharyngitis, Diabetes mellitus	ORPHA:140896
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Hypoplasti...	OMIM:616682
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Leprosy	Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s...	ORPHA:548
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Prader-Willi Syndrome	Osteopenia, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	OMIM:176270
Mend Syndrome	Long neck, Kyphosis, Sacral dimple, Redundant neck skin	OMIM:300960
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Scoliosis	OMIM:619005
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy, Coloboma, Cholelithiasis, Annular pancreas	ORPHA:97297
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Selective Igm Deficiency	Pharyngitis, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphaden...	ORPHA:331235
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula...	OMIM:606170
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Stroke-like episode, P...	ORPHA:137675
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiology, Abnorm...	ORPHA:93111
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Platyspondyly, Sclerosis of skull base	OMIM:619727
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis	ORPHA:171629
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious...	ORPHA:438213
Cockayne Syndrome	Delayed eruption of primary teeth, Kyphosis, Contractures of the large joints, Congenital contrac...	ORPHA:191
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Uplifted earlobe	OMIM:618548
Johanson-Blizzard Syndrome	Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy...	OMIM:243800
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Anencephaly, Abnormal h...	ORPHA:2369
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum	OMIM:123700
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Superiorly displaced...	OMIM:259050
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas	OMIM:618162
Penile Agenesis	Ventricular septal defect, Posteriorly rotated ears, Rectal fistula, Cryptorchidism, Tracheoesoph...	ORPHA:49
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Developmental And Epileptic Encephalopathy 100	Abnormal repetitive mannerisms, EEG with photoparoxysmal response, Dysphagia	OMIM:619777
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Kyphosis, Delayed skeletal maturation, Platyspondyly, Abnormality of the...	ORPHA:2273
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Annular pancreas	ORPHA:488642
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, EEG with temporal sharp slow wa...	ORPHA:217253
Rat-Bite Fever	Pharyngitis, Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Anemia, Parotitis	ORPHA:31205
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Delayed closure of the anterior fontanelle, Kyphosis, De...	OMIM:303600
Histidinemia	Hyperactivity	ORPHA:2157
Cowden Syndrome	Kyphosis, Scoliosis	ORPHA:201
Ulnar-Mammary Syndrome	Subglottic stenosis, Anal stenosis, Ectopic posterior pituitary, Ventricular septal defect, Anter...	OMIM:181450
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Acromegaly	Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis	ORPHA:963
Somatomammotropinoma	Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis	ORPHA:314769
Plague	Pharyngitis, Chapped lip, Enterocolitis, Endocarditis, Inflammation of the large intestine, Gloss...	ORPHA:707
Early Infantile Epileptic Encephalopathy	Precocious puberty, Umbilical hernia, Ventricular septal defect	ORPHA:1934
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:84
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Leptospirosis	Pharyngitis, Papilledema, Pericarditis	ORPHA:509
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Osteoporosis, Intracranial...	ORPHA:79318
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Alström Syndrome	Kyphosis, Thoracic scoliosis, Lumbar scoliosis, Accelerated skeletal maturation	ORPHA:64

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 Tbx1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tbx1.

No publications found that use IMPC mice or data for Tbx1.

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MGI Allele	Allele Type	Produced
Tbx1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Tbx1^{tm364528(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tbx1 MGI:98493

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Tbx1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data