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Gene: Mks1 MGI:3584243

Gene Summary

Name:

MKS transition zone complex subunit 1

Synonyms:

B8d3, Meckel syndrome, type 1, avc6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal nail morphology		Mks1^{tm1a(EUCOMM)Wtsi}	HET		Early adult	3.63×10^-05
increased circulating creatine kinase level		Mks1^{tm1a(EUCOMM)Wtsi}	HET		Early adult	4.40×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	50% (1 of 2)
Lung	N/A	heterozygote	Ambiguous
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

4 Images

View images

Legacy Phenotype Associated Images

Mks1^{tm1a(EUCOMM)Wtsi}
HET, Female, WTSI

Mks1^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Mks1^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Mks1^{tm1a(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

View all 154 images

Mks1^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Mks1 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 Mks1 (7 diseases)
Human diseases predicted to be associated with Mks1 (2710 diseases)

The table below shows human diseases associated to Mks1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Meckel Syndrome	Ureteral duplication, Anophthalmia, Micrognathia, Asplenia, Urethral atresia, Encephalocele, Acce...	ORPHA:564
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Asplenia, Hypotelorism, Lobulated tongue, Accessory spleen...	OMIM:249000
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Apnea, Dextrocard...	ORPHA:220493
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Situs inversus totalis, H...	ORPHA:475
Joubert Syndrome 28	Molar tooth sign on MRI, Hypertelorism	OMIM:617121

The table below shows human diseases predicted to be associated to Mks1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Shor...	OMIM:613885
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Polyhydramnios, Hydrops fetalis, Hypotel...	ORPHA:99776
Meckel Syndrome	Ureteral duplication, Anophthalmia, Micrognathia, Asplenia, Urethral atresia, Encephalocele, Acce...	ORPHA:564
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Long p...	ORPHA:1988
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Asplenia, Hypotelorism, Lobulated tongue, Accessory spleen...	OMIM:249000
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Distal Duplication 17Q	Micrognathia, Protruding ear, High palate, Short philtrum, Vesicoureteral reflux, Renal duplicati...	ORPHA:3379
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, ...	OMIM:243605
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Syndactyly, Hamartoma of tong...	OMIM:311200
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Renal cyst, Finger clinodac...	ORPHA:1692
Lipedema	Edema	OMIM:614103
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Hepatic fibrosis, Narro...	OMIM:614091
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial ha...	OMIM:241800
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat...	ORPHA:397715
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ...	OMIM:306955
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Abnormal...	OMIM:263210
Trisomy 13	Anophthalmia, High, narrow palate, Hydrops fetalis, Hypotelorism, Deeply set eye, Atrial septal d...	ORPHA:3378
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Perianal abscess, Pericardial...	OMIM:614684
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S...	OMIM:616300
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest...	OMIM:615415
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx...	OMIM:184260
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ...	OMIM:211750
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ...	OMIM:231060
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Micrognathia,...	ORPHA:1926
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Polyhydramnios, Micrognathia, Hypoplasia of the...	OMIM:180849
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi...	ORPHA:2863
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Micrognathia, Periorbital edema, Rectal prolapse, Hy...	OMIM:613177
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Microgn...	OMIM:616531
Acalvaria	Omphalocele, Spina bifida, Hypertelorism, Postaxial hand polydactyly, Hydrocephalus, Abnormal lun...	ORPHA:945
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Cleft upper lip, Postax...	OMIM:612284
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Polyhydramnios, Hypertelorism, Preaxial hand polydactyly, ...	OMIM:263630
Marden-Walker Syndrome	Micrognathia, High, narrow palate, Congenital contracture, Hypoplasia of the brainstem, High pala...	OMIM:248700
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, U...	ORPHA:294975
Alg9-Cdg	Villous atrophy, Micrognathia, Hydrops fetalis, Right ventricular dilatation, Large fleshy ears, ...	ORPHA:79328
Frontonasal Dysplasia 1	Median cleft lip, Hypertelorism, Hypoplasia of the maxilla, Conductive hearing impairment, Postax...	OMIM:136760
Trisomy 1Q	Anophthalmia, Congenital diaphragmatic hernia, Hypotelorism, Agenesis of corpus callosum, Microre...	ORPHA:261344
Sweeney-Cox Syndrome	Polyhydramnios, Micrognathia, Asplenia, Uplifted earlobe, Bilateral cryptorchidism, High palate, ...	OMIM:617746
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, High, narrow palate, Subependymal cysts, Aminoacid...	OMIM:214100
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven...	OMIM:618142
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Ventriculomegaly, Radial bowing, Intestinal malrotation, Postaxial poly...	OMIM:617866
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Microdontia, Pate...	OMIM:620005
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Pseudotrisomy 13 Syndrome	Hypotelorism, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis of corpus callosum, E...	OMIM:264480
Feingold Syndrome 1	Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Es...	OMIM:164280
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Atrial ...	OMIM:311900
Distal Triplication 15Q	Arachnodactyly, Abnormal external genitalia, Abnormality of the kidney, Micrognathia, Patent duct...	ORPHA:314588
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Anodonti...	ORPHA:90652
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Exaggerated cupid's bow, Ventricular septal de...	ORPHA:261120
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Cardiac fibroma, Abnormal sternum morphology, Odontogenic ker...	OMIM:109400
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, High palate, Conductive hearing impairment, Clinodactyly of the 5th ...	OMIM:617877
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H...	OMIM:611134
Intellectual Disability, Wolff Type	Microretrognathia, Hypospadias, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Non-midli...	ORPHA:3080
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm...	OMIM:146510
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, Hypo...	OMIM:218330
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Hypertelorism, Cryptorchidism, Clef...	OMIM:619123
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ...	OMIM:217095
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Ectopic kidney, High,...	OMIM:122470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Hepatic fibrosis, Narrow chest, Thoracic dysplasia, Atri...	OMIM:263520
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Situs inversus total...	ORPHA:244
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Cryptorc...	ORPHA:2311
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cut...	OMIM:235510
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short ...	OMIM:269860
Triploidy	Hypoplasia of penis, Micrognathia, Holoprosencephaly, Low-set, posteriorly rotated ears, Finger s...	ORPHA:3376
Orofaciodigital Syndrome Xviii	Sandal gap, Urinary incontinence, Postaxial polydactyly, Accessory oral frenulum, Diastema, Cleft...	OMIM:617927
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro...	OMIM:208500
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Atrial septal defect, Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias,...	OMIM:257300
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Hypertelorism, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Wi...	OMIM:608776
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Hypertelorism, Aplasia/Hypoplasia of fingers, Unilateral clef...	ORPHA:1919
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Shallow orb...	OMIM:268300
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Flared metaphysis, Micropenis, Thin ribs, Slender long bone, Ascites, An...	OMIM:602361
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Anteriorly placed anus, Deeply set eye, Gastroesophageal reflux, Atrial sept...	OMIM:618494
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Cryptorchidism, Postaxial hand p...	ORPHA:65759
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no...	OMIM:617925
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Hyp...	OMIM:611209
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse pa...	OMIM:229850
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout...	OMIM:612776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement ...	ORPHA:93267
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Finger syndact...	ORPHA:2886
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Trisomy 17P	Hypoplasia of penis, Micrognathia, Orofacial cleft, High palate, Clinodactyly of the 5th finger, ...	ORPHA:261290
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophage...	OMIM:314390
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Deeply set eye, High palate, Atrioventricular canal de...	ORPHA:251071
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,...	ORPHA:221120
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Left superior vena cava draining directly to the left atrium, Dextrotransposition of th...	OMIM:619657
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Hypospadias, Abnormal thumb morphology, High, narrow palate, ...	ORPHA:3242
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cy...	OMIM:236500
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Spina bifida, M...	ORPHA:2437
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Chiari type I malformation, Deeply set eye, Short philtr...	OMIM:618316
Pierpont Syndrome	Large fleshy ears, Deeply set eye, Widely spaced teeth, Short palm, Prominent fingertip pads, Mic...	OMIM:602342
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Splenomegaly, Postaxial ha...	OMIM:615630
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Micrognathia, Hydrops fetalis, Renal cyst, Fused teeth, High palate,...	OMIM:613610
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd...	OMIM:619879
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Hypertelorism, Urethral stenosis, Cleft palate, Anterior...	ORPHA:1727
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Deeply set...	OMIM:265380
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:213980
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Hypotelorism, Deeply ...	OMIM:612530
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Occipital meningocele, Accessory oral frenulum, Hamartoma of tongue, Postaxial polydactyly, Aplas...	OMIM:616546
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha...	ORPHA:1908
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum,...	ORPHA:1507
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le...	OMIM:236110
Chromosome 16P13.3 Deletion Syndrome, Proximal	Broad hallux, Abnormality of the kidney, Micrognathia, High palate, Hypoplastic left heart, Polys...	OMIM:610543
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Beaded ribs, Cardiomegaly, Micropenis, Hypospadias, Decreased fibular diameter, Sho...	OMIM:616897
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Polyhydramnios, Micro...	OMIM:236680
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Nephroblastomat...	OMIM:608022
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Clitoral hypoplasia,...	OMIM:268310
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Micrognathia, Pectus excavatum, Wide anterior fontanel, Umbilical hernia, Nephrob...	OMIM:618272
Pierpont Syndrome	Uplifted earlobe, Deeply set eye, Widely spaced teeth, Prominent fingertip pads, Joint laxity, Hy...	ORPHA:487825
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se...	OMIM:607323
Scarf Syndrome	Bifid scrotum, Cryptorchidism, Hepatocellular adenoma, Micropenis, Perineal hypospadias, Pectus c...	ORPHA:3134
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoure...	ORPHA:2059
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Posterior...	OMIM:614294
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Posteriorly rotated ears, Single transverse palmar crease, Unilateral renal age...	OMIM:618419
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Arthrogryposis multiplex congenita, Talipes equin...	OMIM:616570
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Deeply set eye, High palate, Hepatic steatosis, Profound hearin...	OMIM:619418
Acrorenal-Mandibular Syndrome	Micrognathia, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split ha...	OMIM:200980
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, D...	OMIM:619148
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transposition of the great art...	ORPHA:1913
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorch...	OMIM:615524
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion...	OMIM:239850
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle...	ORPHA:3434
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, O...	OMIM:619306
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Micromelia, Hearing impairment, Hydrocephalus, Patent d...	ORPHA:93274
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Thick vermilion border,...	ORPHA:251076
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Pol...	ORPHA:373
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hypertelorism, Hydrocephalus, Deep philtrum, Orofacial...	OMIM:609637
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Wide anterior fontanel, Jaundice, Glutaric aciduria, Generalized aminoaciduria, Ren...	OMIM:231680
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Micrognathia, Polyhydramnios, Crypto...	ORPHA:2189
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Polyhydramnios, Renal cyst, Narrow greater sciatic notch, Short palm, Atri...	OMIM:312870
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Hypertelorism, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardio...	OMIM:300845
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Truncus arteriosus, Ven...	OMIM:615583
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Cardiomegaly, Knee flexion contracture, High palate, Macrovesicular ...	OMIM:608836
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Liver abscess, Abnormal pericardium morphology, Portal hypertens...	ORPHA:284
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hypoplas...	ORPHA:2092
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular sept...	OMIM:614815
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation, Ventricular septal defect, Non-acidotic proximal tubulopathy...	OMIM:222448
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Orofacial cleft, Symphalangism affecting the ph...	ORPHA:2990
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel, Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Jeune Syndrome	Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol...	ORPHA:474
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly	OMIM:233270
Ciliary Dyskinesia, Primary, 14	Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organization of respiratory m...	OMIM:613807
Ulbright-Hodes Syndrome	Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte...	ORPHA:3404
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Micrognathia, Renal cyst, High palate, Atrial septal defect, Int...	OMIM:614866
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Pho...	ORPHA:2538
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S...	ORPHA:93323
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism...	ORPHA:1865
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Joint hyperfle...	ORPHA:261243
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly, Nephronophthisis, Ambiguous genitalia, Micropenis	OMIM:614464
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th...	ORPHA:96092
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Thanatophoric Dysplasia	Atrial septal defect, Abnormality of the kidney, Micromelia, Hearing impairment, Abnormal sacroil...	ORPHA:2655
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Urinary incontinence, Tapered finger, Carious teeth, Pericardial effusion, Mi...	OMIM:620070
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Micrognathia, Met...	OMIM:214110
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor...	ORPHA:140976
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Reduced respiratory ciliary beating frequency, Situs inversus totalis, Patent duc...	OMIM:618300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly ...	OMIM:280000
Thomas Syndrome	Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, Hypertelorism, Cleft pal...	ORPHA:3316
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Micromelia, Cran...	OMIM:200995
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, H...	OMIM:269150
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o...	ORPHA:576283
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Hypertelorism, Cryptorchidism, Postaxial...	ORPHA:2075
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypopla...	ORPHA:2570
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, P...	OMIM:614424
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Hypertelorism, Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Talipes equ...	OMIM:616789
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, Hypogonadism	ORPHA:141333
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Epiphyseal stippling, Colpocephaly, Decreased liver function, Low-set e...	OMIM:614870
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Cleft palate, Gr...	OMIM:164180
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Oligodontia, High palate, Nar...	OMIM:224300
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Micrognathia, Cryptorchidism, Velopharyngeal insufficienc...	OMIM:300978
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Joint stiffness, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidis...	ORPHA:1166
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi...	ORPHA:97360
Alkuraya-Kucinskas Syndrome	Edema, Micrognathia, Hypotelorism, High palate, Micropenis, Hypertelorism, Pericardial effusion, ...	OMIM:617822
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Micrognathia, Abnormal lung lobation, Orofacial cleft, Hypotelorism, Holopro...	ORPHA:2166
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conduct...	OMIM:277170
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr...	OMIM:617201
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus...	OMIM:239300
Disorganization, Mouse, Homolog Of	Cleft upper lip, Sensorineural hearing impairment, Hip dislocation, Cleft palate, Hand polydactyl...	OMIM:223200
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Hypertelorism, Renal hypoplasia/aplasia, Abnormalit...	ORPHA:1834
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Short femur, Ventriculomegaly, Metaphyseal spur...	OMIM:618188
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n...	ORPHA:1106
Becker Nevus Syndrome	Supernumerary nipple, Micromelia, Pectus excavatum, Hypoplastic labia minora, Abnormal tibia morp...	ORPHA:64755
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Posteriorly rotated ears, Nephroblastoma, Micrognathia, High, ...	ORPHA:2849
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutrope...	OMIM:617303
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of th...	OMIM:620113
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Polyhydramnios, Abnormal ...	OMIM:616809
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic...	ORPHA:2549
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition, Abnorm...	ORPHA:276422
Ciliary Dyskinesia, Primary, 25	Dextrocardia, Situs inversus totalis, Immotile cilia, Gastroesophageal reflux, Polysplenia, Recur...	OMIM:615482
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Orofacial cleft, High palate, Clin...	OMIM:607872
6P22 Microdeletion Syndrome	Finger syndactyly, Patent ductus arteriosus, Hydrocephalus, Overfolded helix, Hypotelorism, Deepl...	ORPHA:251046
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Camptodactyly of finger, Joint stiffness, Hyper...	ORPHA:137834
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Aicardi Syndrome	Prominence of the premaxilla, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Missin...	OMIM:304050
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Wide anterior fontanel, Renal cortical cys...	ORPHA:79323
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycys...	OMIM:173900
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Po...	ORPHA:363705
Dextrocardia	Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma...	ORPHA:1666
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Ververi-Brady Syndrome	Thin upper lip vermilion, Hypertelorism, Cupped ear, Wide mouth, Everted lower lip vermilion, Hig...	OMIM:617982
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Mic...	OMIM:608572
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, Hydrops fetalis, Short philtrum, Con...	ORPHA:2136
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Aarskog-Scott Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodac...	ORPHA:915
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Hearing impairment, Hypertelorism, Tarsal osteovalgus, Finger clinodactyly, Deeply...	OMIM:614257
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Intestinal malrotation, Camptodactyly of finger, Missing ribs, Mening...	ORPHA:1759
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero...	OMIM:134780
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Hepatic cysts, Coxa...	OMIM:617425
Chime Syndrome	Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Abnormality of the kidney, A...	ORPHA:3474
Chung-Jansen Syndrome	Tapered finger, Micrognathia, Hypertelorism, Cryptorchidism, Large earlobe, Hip dysplasia, Thin v...	OMIM:617991
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi...	OMIM:615993
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Dextrocardia, Hypertel...	OMIM:618067
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ...	ORPHA:96097
20Q11.2 Microdeletion Syndrome	Brachydactyly, Hearing impairment, Hypertelorism, Abnormality of the ear, Finger clinodactyly, De...	ORPHA:444051
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormal lung lobation, Orofacial cleft, Pectus carin...	ORPHA:958
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, De...	ORPHA:2162
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Scarf Syndrome	Bifid scrotum, Barrel-shaped chest, Cryptorchidism, Micropenis, Perineal hypospadias, Pectus cari...	OMIM:312830
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Distal Deletion 10P	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hearing impairment, Joint stiffness, Micr...	ORPHA:1580
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single...	OMIM:601186
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Protruding ear, Pachygyria, Agenesis of corpus callosum, Bifid...	ORPHA:899
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Hypertelorism, Pylori...	ORPHA:261197
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ...	OMIM:210710
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Smooth philtrum, Syndactyly, Ventricular septal defect, Cutis marmorata, Hypertelorism, Hydroceph...	OMIM:602501
Melnick-Needles Syndrome	Micrognathia, Vesicoureteral reflux, Hypertelorism, Cone-shaped epiphyses of the phalanges of the...	ORPHA:2484
Coach Syndrome 2	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce...	OMIM:619111
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Missing ribs, Short thorax, Abnormal rib morphology, Spina bifi...	ORPHA:1797
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Micrognathia, E...	OMIM:617468
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, Hypospadias, 1-3 toe syndactyly, Hypertelori...	OMIM:175700
Charlie M Syndrome	Finger syndactyly, Micrognathia, Hypertelorism, Narrow mouth, Non-midline cleft lip, Split hand, ...	ORPHA:1406
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615938
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Cerebellar v...	OMIM:216360
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Hypertelorism, Cryptorchidism, ...	OMIM:243310
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric...	ORPHA:210122
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Posteriorly rotated ears, Postaxial polydactyly, Hyperte...	OMIM:619185
Tetrasomy 5P	Respiratory distress, Micrognathia, High palate, Clinodactyly of the 5th finger, Short hallux, Hy...	ORPHA:3309
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy...	OMIM:618454
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Hypertelorism, Cryptorchidism, High palate...	OMIM:615433
Distal Monosomy 7Q36	Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Symphalangism affecting...	ORPHA:1636
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Cutis marmorata, Postaxial hand polydactyly, Hydrocephalus, Polymicrogyria, Ventriculomegaly	OMIM:615937
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Deeply set eye, High pala...	OMIM:300882
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Micrognathia, Cryptorchidi...	ORPHA:171839
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid...	OMIM:617616
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Ectopic kidney, Hypertelorism, 2-3 toe syndactyly, Cleft palate, A...	OMIM:239800
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u...	ORPHA:887
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Neonatal death, Agenesis of corp...	OMIM:256520
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, ...	ORPHA:2754
Warburg Micro Syndrome 1	Overlapping toe, Micrognathia, Cryptorchidism, Osteoporosis, Optic atrophy, Wide nasal bridge, De...	OMIM:600118
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Long nose, Deeply set eye, Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadi...	ORPHA:363444
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Fem...	OMIM:620076
Trisomy 18	Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Atrial septal defect, ...	ORPHA:3380
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertro...	OMIM:252500
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striat...	OMIM:300373
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Dextrocardia	OMIM:606217
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,...	OMIM:135900
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Holoprosencephaly 11	Cleft lip, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Polysplenia	OMIM:614226
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Bardet-Biedl Syndrome 10	Hypogonadism, Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Wide nasal bridg...	OMIM:620393
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial h...	OMIM:265000
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Hypertelorism, Non-midline cleft l...	ORPHA:1104
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, N...	OMIM:615633
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Hypertelorism, Postaxial ha...	ORPHA:66625
Emanuel Syndrome	Congenital hip dislocation, Multiple joint contractures, Dental crowding, Congenital diaphragmati...	ORPHA:96170
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, ...	ORPHA:250994
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe...	OMIM:612561
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Asplenia	OMIM:618948
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial sept...	OMIM:214800
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Cleft upper lip, Hiatus hernia, Malabsorption...	ORPHA:50
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Hypertelorism, Supe...	ORPHA:2919
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, M...	ORPHA:3027
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Abnormal lung lobation, Tetraph...	OMIM:215140
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Posteriorly rotated ears, Polyhydramnios, Tapered finger, Micrognat...	OMIM:618829
Renal Tubular Dysgenesis	Renotubular dysgenesis, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop...	ORPHA:3033
Acrocardiofacial Syndrome	Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hypospadias, Cleft upper lip, Hyper...	ORPHA:2008
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Lateral clavic...	OMIM:615503
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Atrial septal...	ORPHA:280
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Micrognathia, Deeply set eye, High palate, Gastroeso...	OMIM:609029
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Unilateral renal agenesis, Cryptorc...	ORPHA:3306
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Hearing impa...	OMIM:613604
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition,...	OMIM:615982
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropath...	OMIM:256150
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hepatomegaly, Hypertelorism, Hydrocephalus, Flexion contracture, Small hand, L...	OMIM:300884
Acromelic Frontonasal Dysostosis	Preaxial polydactyly, Patellar hypoplasia, Short tibia, Agenesis of corpus callosum, Encephalocel...	OMIM:603671
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,...	OMIM:600987
Hartsfield Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Craniosynostosis, Hypertelorism, Non-midline cl...	ORPHA:2117
Marden-Walker Syndrome	Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology, Mu...	ORPHA:2461
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepatic fibrosis, ...	OMIM:266920
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hy...	OMIM:617895
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Neurogenic bladder, Dextrocardia, Missing ribs, Situs inversus totalis, Pectus exc...	OMIM:613686
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Hypoplasia of the brainstem, Bilateral talipes equinovarus, Cerebellar hypoplasia,...	OMIM:618174
Weiss-Kruszka Syndrome	Exaggerated cupid's bow, Single transverse palmar crease, Proximal placement of thumb, Bicuspid a...	OMIM:618619
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H...	OMIM:613153
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal dentate nucleus morphology, Cerebellar atro...	ORPHA:79322
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri...	OMIM:173800
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
1Q21.1 Microdeletion Syndrome	Deeply set eye, High palate, Vesicoureteral reflux, Clinodactyly of the 5th finger, Broad hallux ...	ORPHA:250989
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Large hands, Decreas...	ORPHA:85287
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Part...	OMIM:305450
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Hypospadias, Abnormal pinna morphology, Pos...	OMIM:614175
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Clinodactyly o...	OMIM:260660
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, ...	ORPHA:818
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Ventriculomegaly, Thin vermilion border, Renal cortical cysts	OMIM:609180
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer...	ORPHA:464329
Catel-Manzke Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly...	ORPHA:1388
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy...	ORPHA:991
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Holoprosencephaly...	ORPHA:672
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri...	OMIM:615994
Orofaciodigital Syndrome Iii	Pectus excavatum, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot...	OMIM:258850
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Shor...	OMIM:224410
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,...	OMIM:601357
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Tibial bowing, Protruding ear, Deeply set eye, Spina bifida occulta, Long ...	ORPHA:500095
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hypoplastic ili...	OMIM:139210
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thu...	OMIM:610758
H Syndrome	Microcytic anemia, Micropenis, Abnormality of the kidney, Cleft upper lip, Gingival overgrowth, H...	ORPHA:168569
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Micrognathia, Hypertelorism, Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt...	ORPHA:85445
Prune Belly Syndrome	Congenital hip dislocation, Abnormality of the uterus, Atrial septal defect, Vesicoureteral reflu...	ORPHA:2970
Bohring-Opitz Syndrome	Polyhydramnios, Micrognathia, Flexion contracture, Gastroesophageal reflux, Atrial septal defect,...	OMIM:605039
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Ventriculomegaly, Micrognathia, Pectus excavatum, Wide anterior fontane...	OMIM:618548
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Situs inversus totalis, Secundum atrial septa...	OMIM:202650
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ...	OMIM:158170
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Trisomy 4P	Smooth philtrum, Low-set, posteriorly rotated ears, Hypospadias, Camptodactyly of finger, Abnorma...	ORPHA:1738
Ritscher-Schinzel Syndrome 1	Syndactyly, Dandy-Walker malformation, Hypospadias, Decreased response to growth hormone stimulat...	OMIM:220210
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Ho...	OMIM:613630
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Alg3-Cdg	Abnormal pinna morphology, Lipodystrophy, Hypoplasia of the pons, Metaphyseal chondrodysplasia, A...	ORPHA:79321
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Absent frontal sinuses, Asplenia, Situs inversus totalis, Absent out...	OMIM:244400
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Micrognathia, Pectus excavatum, Sp...	OMIM:261515
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Broad metacarpals, Hypoplastic c...	ORPHA:56304
Trisomy 8Q	Hypoplasia of penis, Micrognathia, Orofacial cleft, Protruding ear, High palate, Low-set, posteri...	ORPHA:1752
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Holoprosencephaly, Clinodactyly o...	ORPHA:96264
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias, Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth, Clinodactyly, Macrotia	OMIM:300934
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P...	OMIM:228520
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, High palate, Atrial septal defect, Clinodactyly of t...	OMIM:612582
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Micrognathia, Abnormal...	ORPHA:2547
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Protruding ear, Downturned corners of mouth, High palate, Atrial...	OMIM:618950
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly...	OMIM:220500
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Death in infancy, Hydrocephalus, Cleft palate, Bifid uvula	OMIM:258320
Charge Syndrome	Anophthalmia, Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the s...	ORPHA:138
Alagille Syndrome	Micrognathia, Long nose, Protruding ear, Deeply set eye, Short philtrum, Atrial septal defect, Cl...	ORPHA:52
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Ectopic kidney, High, narrow palate, Biliary atres...	ORPHA:96149
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit...	OMIM:182290
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Camptodactyly of finger, Hypertelorism, Long f...	ORPHA:1617
Freeman-Sheldon Syndrome	Camptodactyly of finger, Polyhydramnios, Abnormality of the dentition, Joint stiffness, Hearing i...	ORPHA:2053
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal de...	OMIM:300855
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges a...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges a...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges a...	ORPHA:99226
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Urinary incontinence, Uplifted ear...	ORPHA:261537
Turner Syndrome	Bicuspid aortic valve, Micrognathia, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges a...	ORPHA:881
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Hyperte...	ORPHA:380
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Shoulder dislocation, High...	ORPHA:536532
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Tetrasomy 9P	Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, Deeply set eye, High...	ORPHA:3310
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Cyanosis, Dex...	ORPHA:2257
Diaphanospondylodysostosis	Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, ...	ORPHA:66637
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Hypoplasia of penis, Situs inversus tota...	ORPHA:990
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular se...	OMIM:619980
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Intestinal malrotation, Micrognathia, Aqueductal stenosi...	ORPHA:3035
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Campomelia, Cumming Type	Bowing of the long bones, Polycystic liver disease, Lymphedema, Pancreatic cysts, Polycystic kidn...	OMIM:211890
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Large ...	ORPHA:2563
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Hypertelorism, Abnorma...	OMIM:216100
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Joint hypermobi...	OMIM:300972
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly...	OMIM:615996
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Downturned corners of mouth, Short philtrum, ...	OMIM:601808
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Narrow mouth, Humeroradial synostos...	OMIM:251230
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Hypertelorism, Renal hyp...	ORPHA:1590
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
Cat Eye Syndrome	Micrognathia, Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Hypertelorism, Patent...	OMIM:115470
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous...	OMIM:618999
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Elbow flexion contracture, Retrognathia, Bilateral talipes equinovarus, Pulmon...	OMIM:617194
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis	OMIM:217085
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Hypertelorism, Optic disc colobo...	OMIM:174300
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Hypopla...	OMIM:612289
Kagami-Ogata Syndrome	Hepatomegaly, Long clavicles, Ventricular septal defect, Coxa valga, Micrognathia, Long fingers, ...	OMIM:608149
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Short philtrum, Hypoplasia of the thymus, Abnormality of th...	ORPHA:567
Vacterl With Hydrocephalus	Absence of the sacrum, Inguinal hernia, Anophthalmia, Renal agenesis, Microtia, third degree, Spi...	ORPHA:3412
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Branchial cyst, Congenital hip dislocation, Branchial fistula...	OMIM:113650
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narr...	OMIM:617022
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Small scrotum, Clitoral...	ORPHA:85201
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Urinary incontinence, Uplifted ear...	ORPHA:2152
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Apnea, Dextrocard...	ORPHA:220493
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Joint laxity, Single transverse palmar crease, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, ...	ORPHA:502434
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing...	ORPHA:798
Kapur-Toriello Syndrome	Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Cleft upper ...	OMIM:244300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Orofacial cleft, Hypotelorism, Holoprosencephaly, Phocomelia, Hy...	ORPHA:3186
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Dental crowding, Persistence of primary teeth, Micrognathia, Sensorineural hearing ...	OMIM:618342
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormality of the ear, Hypotelorism, Deeply set eye, Clinod...	ORPHA:2710
Congenital Myopathy 17	Mandibular prognathia, Ureteropelvic junction obstruction, Tented upper lip vermilion, Overlappin...	OMIM:618975
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atr...	OMIM:619534
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont...	OMIM:157980
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
16P13.11 Microdeletion Syndrome	Smooth philtrum, Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Campt...	ORPHA:261236
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Broad hallux, Hypertelorism, Postaxial hand polydactyly, Duplicatio...	OMIM:617127
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, He...	OMIM:185070
Wilson-Turner Syndrome	Thin upper lip vermilion, Uplifted earlobe, Micrognathia, Tapered finger, Malar prominence, Crypt...	ORPHA:3459
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly, Periportal fibrosi...	OMIM:213010
Miller-Dieker Syndrome	Omphalocele, Abnormal upper lip morphology, Lissencephaly, Clinodactyly of the 5th finger, Nephro...	ORPHA:531
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro...	OMIM:619762
Mosaic Trisomy 14	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Micrognathia, Cryptorchidism, Abnormal...	ORPHA:1703
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Apnea, Orofacial cleft, Aplasia/Hypoplasia...	ORPHA:1454
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deeply set eye, Short philtrum, ...	ORPHA:819
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacia...	ORPHA:1027
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous synd...	OMIM:609625
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Hype...	OMIM:244600
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Bilateral single transverse palma...	ORPHA:1770
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Congenital diaphragmatic hernia, ...	OMIM:305600
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Knee ...	ORPHA:3103
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Dextrocardia, Hypertelorism, Cryptorchidism, ...	OMIM:618929
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Hypoplasia of the pons, Simplified gyral patt...	ORPHA:468631
Temtamy Syndrome	Micrognathia, Hypertelorism, Short toe, Thick lower lip vermilion, Genu varum, Aortic aneurysm, J...	ORPHA:1777
Arima Syndrome	Cerebellar vermis hypoplasia, Brainstem dysplasia, Tachypnea, Hypoplasia of the brainstem, Hepati...	OMIM:243910
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Micrognathia, Missing ribs, Cryptorchidism, Hydrocephalus, Abnormal...	ORPHA:3301
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Flexion contracture, Abnormality of the ear, Dehydration, Knee flexion contracture,...	OMIM:214150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Apnea, 3-Methylglutaconic aciduria, Cerebellar hypoplasia, Pulmonary hypoplasia, Neonatal death	OMIM:615228
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Polysplenia, Abnormal radial ray morpho...	OMIM:617784
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma...	OMIM:619720
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Brainstem dysplasia, Episodic tachypnea, Clinodactyly, Renal cyst, ...	OMIM:213300
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts, Decreased liver fu...	OMIM:600666
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Atrial septal defect, Bicuspid aortic valve, Patent ductus arteriosus, ...	OMIM:619149
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis...	OMIM:615948
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Single transverse...	ORPHA:96334
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Sho...	OMIM:301900
3C Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve...	ORPHA:7
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Neonat...	OMIM:259775
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Hypospadias, Abnormality of the dentition, Pect...	ORPHA:1548
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Cerebrofaciothoracic Dysplasia	Ventriculomegaly, Cleft upper lip, Rib fusion, Cleft palate, Wide mouth, Narrow chest, Bifid ribs...	ORPHA:1394
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely...	ORPHA:363417
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Microph...	OMIM:600776
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Atrial septal defect, Conductive hearing impairment...	OMIM:257920
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, Sho...	ORPHA:2044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prot...	OMIM:612474
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short lingual frenulum, Renal agenesis, Anomalous origin of left coronary artery from...	ORPHA:2326
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ...	ORPHA:96167
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Inc...	ORPHA:77259
Trichohepatoenteric Syndrome 1	Villous atrophy, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Abnormality of the pan...	OMIM:222470
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyl...	DECIPHER:46
Zttk Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, High palate, Sh...	OMIM:617140
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Micrognathia, Partial ag...	OMIM:616171
Aymé-Gripp Syndrome	Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Tapered finger, Pericardial effusion...	ORPHA:1272
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Pectus excavatum, Radi...	ORPHA:3270
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno...	OMIM:617478
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Edema, Abnormality of ...	ORPHA:2315
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Downturned corners of mouth, High palate, Gastroesophageal reflux, Atrioventricular...	OMIM:613792
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Downturned corners of mouth, Vesicoureteral reflux, Pulmon...	OMIM:616894
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Urinary incontinence, Uplifted ear...	ORPHA:261552
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoureteral reflux, Atrial septal ...	ORPHA:2745
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, Deeply set ey...	ORPHA:251028
Gand Syndrome	Long toe, Thin upper lip vermilion, Hypertelorism, Long fingers, Wide nasal bridge, Wide mouth, D...	OMIM:615074
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
2q37 monosomy	Thin upper lip vermilion, Deeply set eye, Brachydactyly	DECIPHER:44
Cerebrooculonasal Syndrome	Anophthalmia, Downturned corners of mouth, High palate, Conductive hearing impairment, Encephaloc...	OMIM:605627
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Posteriorly rotated ears, Tapered finger, Hypertelorism, Cleft lip, Narrow mouth, Sma...	OMIM:618089
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, Protruding ea...	ORPHA:85279
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fu...	OMIM:300166
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Pachygyria, Thick ...	OMIM:247200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryp...	ORPHA:77298
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Small hand, Short foot, Deeply set eye, Thin vermilion border, Decreased testicul...	ORPHA:261483
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Scapular winging, Wide anterior ...	ORPHA:26791
Holoprosencephaly 9	Anophthalmia, Hypoplasia of the maxilla, Partial agenesis of the corpus callosum, Hypotelorism, S...	OMIM:610829
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, Deeply set eye, High palate, Atrial sept...	OMIM:617602
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hypoplasia of th...	OMIM:610828
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, M...	ORPHA:83617
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Edema, Cleft upper lip, Micrognathia, Polyhydramnios, Hypertelorism, Flexion co...	OMIM:312150
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal rib morphology, Cleft palate, Aplasi...	ORPHA:2635
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, A...	OMIM:164210
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Wide mouth, Deep...	ORPHA:544254
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Polyhydramnios, Knee flexion contracture, Deeply set eye,...	OMIM:193700
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Hypertelorism, Pulmonar...	OMIM:601163
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequ...	ORPHA:93296
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Abno...	OMIM:219000
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt...	ORPHA:435638
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Adams-Oliver Syndrome 2	Cutis marmorata, Single transverse palmar crease, Hypertelorism, Micrognathia, Hydrocephalus, Pro...	OMIM:614219
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Broad hallux, Cleft soft palate, H...	OMIM:618529
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo...	OMIM:154400
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Tapered finger, Downturned corners of mouth, Deeply set eye, High palate, Short philtrum, Cubitus...	ORPHA:85280
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Coxa vara, Hypotelorism, Clinodactyly of the 5th finger, Syndact...	OMIM:614701
Thanatophoric Dysplasia Type 1	Micromelia, Femoral bowing, Atrial septal defect, Abnormality of the kidney, Abnormal sacroiliac ...	ORPHA:1860
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Azoospermia, Holoprosencephaly, C...	ORPHA:1445
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Micrognathia, Downturned corners of mouth, Short palm, Clinodactyly of the 5th fing...	ORPHA:264200
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Protruding ear, Downturned corners of mouth, Abnormal ...	ORPHA:1598
Moebius Syndrome	Micrognathia, High palate, Lower limb undergrowth, Micropenis, Short phalanx of finger, Bifid uvu...	OMIM:157900
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Hypertelorism, ...	ORPHA:1780
Forsythe-Wakeling Syndrome	Osteoporosis, Nephrotic syndrome, Deeply set eye, Low-set ears, Macrotia, Thrombocytopenia	OMIM:613606
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Gastroesophageal reflux, Clinoda...	OMIM:164745
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Thin upper lip vermilion, C...	OMIM:232400
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Chromosome 13Q14 Deletion Syndrome	Single transverse palmar crease, Micrognathia, Anteverted ears, Deep philtrum, Hypotelorism, High...	OMIM:613884
Mosaic Trisomy 16	Syndactyly, Hypospadias, Ventricular septal defect, Single transverse palmar crease, Short thumb,...	ORPHA:1708
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic ar...	OMIM:614846
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology	ORPHA:2703
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Recombinant Chromosome 8 Syndrome	Micrognathia, Downturned corners of mouth, Atrial septal defect, Clinodactyly of the 5th finger, ...	OMIM:179613
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hypertelorism, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Short philtrum, Low-set ear...	ORPHA:1516
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic...	OMIM:201170
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Aqueductal stenosis, Hypoplasia of the pons, Partial ...	OMIM:620305
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long...	OMIM:151210
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	ORPHA:85285
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Sandal gap, Posteriorly rotated ears, Hypertelorism, ...	OMIM:300887
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Myocardial fib...	OMIM:253800
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a...	OMIM:619910
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Gastroesophageal reflux...	OMIM:615873
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Asplenia, Micrognathia, Hydrocephalus, Cleft palate, Urethral at...	OMIM:273395
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Hypertelorism, Abnormality of cartilage of ext...	ORPHA:3426
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Hyper...	OMIM:619758
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Deeply set eye, Low-set ears, Narrow mouth, A...	OMIM:616459
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi...	OMIM:613390
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Hypertelorism, Cone-sha...	OMIM:309350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Large fleshy ears, High pala...	OMIM:614080
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Cutis marmorata, Abnormal pulmonary valve morpho...	ORPHA:974
Campomelia, Cumming Type	Hepatomegaly, Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplas...	ORPHA:1318
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Cryptorchidism, 2-3 toe sy...	ORPHA:404440
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Short palm, Dandy-Walker...	ORPHA:93271
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Cerebellar vermis hypoplasia, Abnormality of the kidney, Hypertelorism, Microgna...	ORPHA:459061
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Rieger anomaly, Sandal gap, Ventricular septal defect, Micrognathia, Na...	OMIM:270450
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Tapered finger, Hypertelorism, Conductive hearing impairment, Sensorineura...	OMIM:618672
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Portal hy...	OMIM:619487
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, ...	ORPHA:2511
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, Hypotelorism, High palate, Widely spaced teeth, Atrial se...	OMIM:610443
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Deepl...	ORPHA:261272
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Ventricular septal defect, Posteriorly rotated ears, Hypertelorism, Con...	ORPHA:2143
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Intellectual Developmental Disorder, Autosomal Dominant 2	Prominent fingertip pads, Deeply set eye, Cholesteatoma	OMIM:614113
Zaki Syndrome	Toe syndactyly, Renal agenesis, Micrognathia, Long fingers, Patent ductus arteriosus, Cupped ear,...	OMIM:619648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Congenital contracture, Hypoplasia of the brainstem, Pachy...	OMIM:236670
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum...	OMIM:618622
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplas...	ORPHA:861
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu...	OMIM:192350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Long nose, Wide nasal bridge, Dextrotransposition of the great arterie...	OMIM:619995
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hypertelorism, Postaxial hand polydactyly, Hydrocephalus, Abnormal loc...	ORPHA:83473
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Hypertelorism, Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndacty...	ORPHA:166024
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Joubert Syndrome 2	Brainstem dysplasia, Episodic tachypnea, Renal cyst, Hypoplasia of the brainstem, High palate, Ne...	OMIM:608091
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Prote...	ORPHA:731
Joubert Syndrome 9	Encephalocele, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Hepatic fibrosis, Molar...	OMIM:612285
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Broad proximal phalanges of the hand, Joint hypermobility, Cleft upper ...	OMIM:607597
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Hematuria, Microphthalmia, Hearing impairment	OMIM:120433
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Exaggerated cupid's bow, Single transverse palmar crease, Hypertelorism, Cleft lip,...	OMIM:620098
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hypertelorism, Abnormal rib morphology, Abnormal localization of kidney...	ORPHA:195
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydr...	ORPHA:228308
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Den...	OMIM:606232
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Wide anterior ...	OMIM:194080
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Renal hypoplasia/aplasia, Splenomegal...	ORPHA:1046
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera...	ORPHA:508488
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Hypoplasia of penis, Renal i...	ORPHA:2377
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Atrial septal defect, Hepatomegaly, Patent ductus arteriosus...	OMIM:614576
Intellectual Developmental Disorder, X-Linked 108	Clinodactyly of the 5th finger, Thin upper lip vermilion, Deeply set eye, Long philtrum	OMIM:301024
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Genu valgum, Downturned corners of mouth,...	ORPHA:2983
Distal Duplication 15Q	Omphalocele, Arachnodactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Downturned co...	ORPHA:1707
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Villous atrophy, Edema, Flexion contracture, Renal cyst, Hepatic fibrosis, Hepatic st...	OMIM:212065
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Atrial septal defect, Hepatomegaly, Pancytopenia, Dextrocardia, Homocys...	OMIM:277380
3Mc Syndrome 3	Abnormal pinna morphology, Cleft upper lip, Hypertelorism, Cryptorchidism, Preaxial polydactyly, ...	OMIM:248340
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Renal insufficiency, Median cleft lip, Abnormal cerebral vascu...	ORPHA:2165
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of...	ORPHA:84
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Deep philtrum, Deeply set eye, Everted lower...	ORPHA:505652
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, Hydrocephalus, Gingival ove...	OMIM:269920
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Nephrocalcinosis, Tympanos...	OMIM:240300
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Hydrocephalus, Deeply set eye, High palate, Prominent fingertip pads, O...	OMIM:300558
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Atrial septal de...	ORPHA:261330
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Thin upper lip vermilion, Metatarsus adductus, Short toe...	ORPHA:3041
Neu-Laxova Syndrome	Micromelia, Micrognathia, Flexion contracture, Pachygyria, Bifid uvula, Dandy-Walker malformation...	ORPHA:2671
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormality of the upper urinary tract, Micrognathia, Abnormality of the ureth...	ORPHA:2145
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr...	OMIM:614096
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Deep philtrum, Increased nuchal ...	ORPHA:77300
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Micrognathia, Oral-pharyngeal dysphagia, Prominent protruding coccyx, P...	ORPHA:480907
Ritscher-Schinzel Syndrome 4	Hypotelorism, Deeply set eye, High palate, Short philtrum, Micropenis, Tapered finger, Hypertelor...	OMIM:619435
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Atrial septal defect, Patent foramen ovale, Patent ductus arteri...	ORPHA:505248
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Renal cyst	OMIM:174050
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Jo...	ORPHA:245
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal...	OMIM:114290
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valg...	ORPHA:3082
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Lens coloboma, Cupped ear, 2-3 ...	OMIM:618914
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, Hypertelorism, 2-3 toe syndactyly, Dow...	OMIM:613443
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Hypertelorism, Micrognathia, Cryptorchidism, Hydrocephalus, Broad p...	OMIM:618577
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Opitz Gbbb Syndrome	Cerebellar vermis hypoplasia, Rectourethral fistula, High palate, Vesicoureteral reflux, Aspirati...	OMIM:300000
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re...	ORPHA:261494
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Generalized joint laxity, Abnormal op...	ORPHA:508498
Trisomy 20P	Micrognathia, Reduced bone mineral density, Downturned corners of mouth, Protruding ear, Short ph...	ORPHA:261318
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lun...	ORPHA:1120
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke...	OMIM:301041
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Micrognathia, Hypertelorism, Abnormality of the elbow...	ORPHA:163649
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Hypertelorism, Cryptorchidism, Sensorineural hearing impairment, Gingiva...	ORPHA:464288
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Cleft upper lip,...	OMIM:106260
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Hypertelorism, Wide nasal bridge, Hypotelorism, Downturned corners of mouth, Sho...	OMIM:613192
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Hypoplasia of the pons, Prominent ear helix, Large earlob...	ORPHA:411986
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Micrognathia, Diastema, Cryptorchidism, Patent ductus arteriosus, Hydr...	OMIM:609757
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Pectus excavatum, Hydroc...	ORPHA:2701
Achondroplasia	Respiratory distress, Bowing of the legs, Femoral bowing, Brain stem compression, Narrow greater ...	OMIM:100800
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Hypertelorism, Abnormal cerebellum morphology, Hydrocephalus, Abnor...	ORPHA:1532
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Cardiomegaly, Micrognathia, Neonatal death, Hepatomegaly, Hypertelor...	OMIM:608013
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Thin upper lip vermilion, Joint laxity, Hypospadias, Optic nerve hypoplasia, Micrognath...	ORPHA:363686
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Hydrou...	OMIM:236700
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Polyhydramnios, Micrognathia, Atri...	ORPHA:1662
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Cleft palate, Hypotelorism, Deeply set eye, Palmoplantar ...	OMIM:268850
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palat...	ORPHA:536467
Joubert Syndrome 7	Encephalocele, Central apnea, Brainstem dysplasia, Postaxial polydactyly, Episodic tachypnea, Pos...	OMIM:611560
Pseudodiastrophic Dysplasia	Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Malar fl...	ORPHA:85174
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Halperin-Birk Syndrome	Inguinal hernia, Hearing impairment, Congenital diaphragmatic hernia, Micrognathia, Flexion contr...	OMIM:618651
Kbg Syndrome	Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Cryptorchid...	OMIM:148050
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e...	OMIM:300534
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Micrognathia, Ectopic kidney, Renal cyst, Anteriorly ...	OMIM:117650
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep...	OMIM:618381
Joubert Syndrome 16	Encephalocele, Hypertelorism, Renal cyst, Polydactyly, Nephronophthisis, Molar tooth sign on MRI,...	OMIM:614465
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum...	ORPHA:2091
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Pulmonary hyp...	ORPHA:1486
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Deeply set eye, Prolonged neonatal jaundice, Tapered finger	OMIM:618512
Iniencephaly	Congenital diaphragmatic hernia, Orofacial cleft, Holoprosencephaly, Dandy-Walker malformation, E...	ORPHA:63259
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Hypertelorism, Cutaneous syndactyly, Neural tube defect, Hypodont...	OMIM:119580
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Wide nasal bridge, Cleft palate, Oligodontia, Mala...	OMIM:612916
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first ribs, Iliac ho...	OMIM:161200
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Hypotelorism, Deeply set eye, Narrow greater sciatic notch, High palate, Conductive...	OMIM:602471
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia, Thickened helices, Vesicoureteral reflux, Deeply set eye, Prolonged neona...	OMIM:618828
Congenital Pseudoarthrosis Of The Clavicle	Dextrocardia, Situs inversus totalis, Osteoarthritis, Cervical ribs, Congenital pseudoarthrosis o...	ORPHA:66630
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Hypertelorism, Cleft palate, Polydactyly, High palate, Short tibia	OMIM:300484
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Midline central nervous system lipomas, Hypertelorism, Cryptorch...	ORPHA:1827
Schisis Association	Encephalocele, Omphalocele, Renal agenesis, Spina bifida, Micromelia, Congenital diaphragmatic he...	ORPHA:63862
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, H...	OMIM:145420
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus callosum, Aortic va...	OMIM:619895
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Cardiomyop...	OMIM:619003
Jacobsen Syndrome	U-Shaped upper lip vermilion, Atrial septal defect, Recurrent respiratory infections, Ventricular...	OMIM:147791
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic t...	OMIM:600001
Velocardiofacial Syndrome	Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Velopharyngeal insufficiency,...	OMIM:192430
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Deeply set e...	OMIM:601559
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Spl...	OMIM:610199
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Wide anterior fontanel, Micronodular cirrh...	OMIM:606003
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Renal hypopl...	OMIM:246560
Ellis-Van Creveld Syndrome	Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Atrial septal defect, Dandy-W...	OMIM:225500
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro...	ORPHA:369
12Q14 Microdeletion Syndrome	Intestinal malrotation, Micrognathia, Ectopic kidney, Abnormality of the spleen, Osteopoikilosis,...	ORPHA:94063
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hepatome...	OMIM:301056
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Micrognathia, Secundum atrial septal defect, Long hallux, Deeply set e...	OMIM:620194
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cerebe...	OMIM:613730
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Postaxial han...	ORPHA:85284
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Thoracic kyphoscoliosis, Proximal placement of thumb, ...	OMIM:613330
Ciliary Dyskinesia, Primary, 17	Dextrocardia, Dynein arm defect of respiratory motile cilia, Situs inversus totalis, Recurrent ot...	OMIM:614679
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Atrial septal defect, Microp...	OMIM:614526
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Edema, Hiatus hernia, Micrognathia, Nar...	OMIM:617729
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Predominantly lower limb lymphedema, Metatarsus adductus...	ORPHA:293939
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathia, Flexion contracture, D...	OMIM:620369
Cofs Syndrome	Camptodactyly of finger, Micrognathia, Joint stiffness, Sensorineural hearing impairment, Optic a...	ORPHA:1466
Ciliary Dyskinesia, Primary, 38	Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Immotile cilia, Conduct...	OMIM:618063
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg...	OMIM:616719
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture	OMIM:617055
Mulibrey Nanism	Hepatomegaly, Dental crowding, Single transverse palmar crease, Nephroblastoma, Cardiomegaly, Hyp...	OMIM:253250
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Bilateral ...	ORPHA:1600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Renal cyst, Hypotelorism, Deeply set eye, High palate, Gastroesophageal reflux, Ves...	OMIM:616975
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Sandal gap, Tapered finger, Micrognathia, Renal hypoplasia/aplasia, Hypert...	ORPHA:1438
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Micrognathia,...	OMIM:619472
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia, Hearing impairment	OMIM:617577
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, High palate, Short...	OMIM:616449
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Cleft palate, Hypotelorism, Finger jo...	OMIM:244200
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ear...	ORPHA:2876
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Deeply set eye, Anemia	ORPHA:3204
Congenital Hydrocephalus	Posteriorly rotated ears, Abnormal cortical gyration, Hydrocephalus, Sensorineural hearing impair...	ORPHA:2185
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Micrognathia, Cleft upper lip, Abnorma...	OMIM:601076
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ...	OMIM:271520
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ...	OMIM:619312
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Cryptorc...	OMIM:241410
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft ...	OMIM:313850
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Hypertelorism, Wide nasal bridge, Low-set ears, Dysphagia,...	ORPHA:89844
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Micrognathia, Abnormal localization of kidney, Prolonged neonatal ja...	ORPHA:446
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Cubitus valgus, Short philtrum, Deeply set eye	OMIM:300471
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr...	OMIM:136140
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Deeply set eye, Hypoplasia o...	OMIM:257850
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Cutis marmorata, Portal hypertension, Splenomegaly, Renal ...	OMIM:616589
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Abnormality of the kidney, Edema, Protruding tongue, Cherr...	ORPHA:93400
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H...	OMIM:617967
Edinburgh Malformation Syndrome	Micrognathia, Long fingers, Hydrocephalus, Abnormality of neuronal migration, Respiratory insuffi...	ORPHA:1895
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hydrocephalus, Lymphadenopat...	ORPHA:858
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia	OMIM:618254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Type II lissencephaly, Cleft upper lip, Hydrocephalus, Partial a...	OMIM:613150
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cutis marmorata, Protruding tongue, Cryptorchidism, Hydrocephalus, Pat...	OMIM:612938
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, Wide anterior fo...	ORPHA:3098
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Hypertelorism, Splenomegaly, Sensori...	OMIM:615636
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Upper limb undergrowth, Thoracic hypoplasia	OMIM:613124
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Deepl...	ORPHA:496790
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Mitral...	ORPHA:90653
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears...	ORPHA:313781
Martsolf Syndrome 1	Enlarged sylvian cistern, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High pala...	OMIM:212720
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Hyperteloris...	OMIM:169400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Polyhydramnios, Long nose, T lymphocytopenia, Deeply set ey...	ORPHA:508533
Mosaic Variegated Aneuploidy Syndrome 3	Cleft palate, Horseshoe kidney, Deeply set eye, Low-set ears, Arthrogryposis multiplex congenita,...	OMIM:617598
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
Alazami Syndrome	Wide nasal bridge, Wide mouth, Deeply set eye, Retractile testis, Thick vermilion border, Short p...	OMIM:615071
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypot...	ORPHA:250999
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcificati...	ORPHA:157
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Micrognathia, Ectopic kidney, Anorectal a...	ORPHA:233
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Oligodontia, Small earlobe, Prominent palat...	OMIM:272950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Patent fora...	ORPHA:369891
Ssr4-Cdg	Abnormality of the gastrointestinal tract, Abnormality of upper lip vermillion, Patent ductus art...	ORPHA:370927
Galloway-Mowat Syndrome 5	Mandibular prognathia, Proteinuria, Edema, Hypertelorism, Stage 5 chronic kidney disease, Focal s...	OMIM:617731
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,...	OMIM:164200
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema,...	ORPHA:1041
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Multiple joint contractures, Single transverse palmar...	ORPHA:536471
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Median cleft palate	ORPHA:2432
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Men...	ORPHA:2031
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Dee...	OMIM:618504
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Flexion contra...	OMIM:263650
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Atrial ...	ORPHA:93932
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing,...	ORPHA:79128
Lambotte Syndrome	Ventricular septal defect, Hypertelorism, Retrognathia, Atresia of the external auditory canal, N...	OMIM:245552
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition,...	OMIM:615398
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion contracture, Hypertelorism, M...	ORPHA:284417
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus, Rhizomelia	OMIM:166990
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,...	ORPHA:2751
Vitamin K Antagonist Embryofetopathy	Hearing impairment, Hypertelorism, Myelomeningocele, Hydrocephalus, Respiratory insufficiency, Ep...	ORPHA:1914
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Agenesis of corpus callosum, Ventriculomegaly, Adducted thumb	OMIM:303350
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Thickened helices, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bri...	ORPHA:261295
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,...	OMIM:606242
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Recurrent respiratory infections, Camptod...	ORPHA:628
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Hypertelorism, Cleft lip, Deep philtrum, Wide nasal bridge, C...	OMIM:618571
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari...	ORPHA:139471
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Atrial septal defec...	ORPHA:2255
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas...	OMIM:113000
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Hypotelorism, Narro...	ORPHA:3469
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne...	ORPHA:370959
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Delayed eruption of teeth, Congenital hip dislocation, Hypertelorism, Macroglossia	OMIM:614450
Fetal Akinesia Deformation Sequence 1	Micrognathia, High, narrow palate, High palate, Wrist flexion contracture, Elbow ankylosis, Ulnar...	OMIM:208150
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Edema, P...	ORPHA:93552
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal sten...	ORPHA:2470
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a...	ORPHA:264450
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi...	ORPHA:2256
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Cerebellar vermis hypoplasia, Thin upper lip vermilion,...	OMIM:619135
Severe Congenital Nemaline Myopathy	Hypospadias, Abnormal thorax morphology, Thin ribs, Pulmonary hypoplasia, Micropenis, Adducted thumb	ORPHA:171430
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hypertelorism, Unilateral renal ...	OMIM:616362
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Polyhydramnios, Aplasia of the epiglottis, Atrioventricular canal defect, Hepatomegaly, Accessory...	OMIM:617088
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Retrognathia, Orofacial cleft...	OMIM:614583
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Partial agenesis of the corpus callosum, Deeply set eye, Hypoplasia of t...	OMIM:614643
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Hypertelorism, Aqueductal stenosis, Hiatus hernia, Macrotia...	ORPHA:2065
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Hypospadias, Hypertelorism, Micrognathia, Dysplastic corpus callosum, Cr...	OMIM:618820
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Respiratory...	OMIM:276950
Blepharonasofacial Malformation Syndrome	Finger syndactyly, External ear malformation, Cryptorchidism, Non-midline cleft lip, Optic atroph...	ORPHA:1252
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial n...	OMIM:616629
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing...	OMIM:619951
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped ...	ORPHA:3156
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Deeply set eye, Widely ...	ORPHA:90321
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Deeply set eye, Everted lower lip ve...	ORPHA:2429
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Micrognathia, Pericardial effusion, Optic atrophy, Cardiomyopathy, Elevated urine acetoacetic aci...	OMIM:620089
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Hypotelorism, Should...	ORPHA:536545
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Dental crowding, Orofacial cleft, Urethral atresia, High palat...	ORPHA:2052
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of finger, Hypertelorism, Mi...	ORPHA:994
Basilicata-Akhtar Syndrome	Short palm, Tented upper lip vermilion, Abnormal pinna morphology, Single transverse palmar creas...	OMIM:301032
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip, Wide nasal bridge, Hypertelorism	ORPHA:2007
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Hepatomegaly, Macrodontia, Micrognathia, Hypertelorism, Small hand, Gen...	OMIM:618443
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, L...	ORPHA:1528
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Celiac disease, Bilateral cryptorchidism, Dilated third ventricle, R...	ORPHA:544488
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Proximal renal tubular acidosis,...	OMIM:181180
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedull...	OMIM:616733
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Ren...	ORPHA:139466
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal c...	OMIM:113620
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Megalencephaly	Macroorchidism, Long penis, Wide nasal bridge, Genu valgum, Deeply set eye, Atrial septal defect	ORPHA:2477
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Anophthalmia, Delayed eruption of primary teeth, Hearing imp...	ORPHA:90322
Loeys-Dietz Syndrome 4	Joint laxity, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Bi...	OMIM:614816
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormality of the dentition, Hydrocephalus, Gingivitis, Periodontitis, Hearing impairment	ORPHA:1008
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed a...	ORPHA:95699
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia, Limb undergrowth, Talipes equinovarus, Amb...	OMIM:614209
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai...	ORPHA:1307
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal...	ORPHA:1297
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Cleft palate, Deeply set eye, Malar flattening, Truncus arteriosus, Smo...	OMIM:611867
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Knee fle...	OMIM:603387
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Hypertelorism, Wide anter...	ORPHA:2021
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art...	ORPHA:1112
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Hypertrophic cardiomyopathy,...	OMIM:614702
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ...	OMIM:224400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Micrognathia, Lymphedema, High palate, Protein-losing enteropathy, Micropenis, He...	OMIM:235255
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Adducted thumb	ORPHA:2182
20Q13.33 Microdeletion Syndrome	Hallux valgus, Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Hypospadias, ...	ORPHA:261311
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic...	OMIM:618955
Primary Effusion Lymphoma	Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion	ORPHA:48686
Chromosome Xq13 Duplication Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Posteriorly ro...	OMIM:301069
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Pectus carina...	OMIM:224690
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Optic atrophy, Deeply set eye, Hip dysplasia, Hypertrophic c...	OMIM:617183
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Hypertelorism, 2-3 toe syndactyly, Horseshoe kidney, Short foot, Downturned corners...	OMIM:300860
Heart And Brain Malformation Syndrome	Attached earlobe, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Posteriorly...	OMIM:616920
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Abnormality of the ear, Palmoplantar hyperkeratosis...	OMIM:225060
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, S...	ORPHA:439822
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement...	OMIM:261540
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Thin upper lip vermilion, Increased nuchal translucency, Deeply set eye, Fetal intraventricular h...	OMIM:618480
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Multiple Pterygium Syndrome, Lethal Type	Micrognathia, Cleft palate, Thin ribs, Hypoplastic heart, Short finger, Pulmonary hypoplasia	OMIM:253290
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Breathi...	OMIM:610688
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu v...	ORPHA:3320
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Rib fusion	OMIM:608681
Ciliary Dyskinesia, Primary, 2	Sinusitis, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Immotile cil...	OMIM:606763
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Hearing impairment, Hypertelorism, Hypoplasia of the maxilla, Optic at...	OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Hypos...	OMIM:615761
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea...	ORPHA:284169
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, Deeply set eye, High palate, Short philtrum,...	ORPHA:261337
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A...	ORPHA:2319
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum,...	ORPHA:500150
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari...	OMIM:253000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Hypert...	ORPHA:3304
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r...	ORPHA:1354
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Smooth philtrum, Micrognathia, High, narrow palate, Hydrocephalus, Retrognathia, Hypotelorism, Co...	OMIM:620156
Diprosopus	External ear malformation, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac sep...	ORPHA:1681
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Talipes equinovarus, Cerebellar verm...	ORPHA:466794
Lujan-Fryns Syndrome	Macroorchidism, Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dent...	ORPHA:776
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Limited elbow extension, Holoprosencephaly, Tapered finger	OMIM:300706
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender lon...	OMIM:608154
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Hypertelorism, Dilated cardiomyopathy, Deeply set eye, Azoospermia, Ischemic...	ORPHA:280679
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Multicystic kidney dysplasia, Ventriculo...	ORPHA:1052
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Death in infancy, Hydrocephalus, Jaundice	OMIM:129850
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Sensorineural hearing impairment, Wide nasal bridge, T lymphocytopenia,...	OMIM:615966
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Abse...	ORPHA:79113
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Slc35A2-Cdg	Abnormal long bone morphology, Short tibia, Dandy-Walker malformation, Aplasia/hypoplasia involvi...	ORPHA:356961
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial...	OMIM:619343
Pfeiffer Syndrome Type 3	Respiratory distress, Aqueductal stenosis, High palate, Vesicoureteral reflux, Finger syndactyly,...	ORPHA:93260
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Restrictive Dermopathy 1	Ureteral duplication, Micrognathia, Overtubulated long bones, Atrial septal defect, Neonatal deat...	OMIM:275210
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Hypertelorism, Cryptorchidism, Patent du...	OMIM:600460
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Arteria lusoria, Protruding ear, Deeply set eye, Gastroesophageal reflux, Hypertelori...	ORPHA:221139
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Micrognathia, Wrist sw...	OMIM:166300
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Gastroesophageal reflux, Pulmonic ...	ORPHA:2414
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Omphalocele, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Diastas...	ORPHA:254528
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, High palate, Triphalangeal thumb, Neutropenia, Atrial septal def...	OMIM:105650
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Broad hallux, Single transver...	OMIM:614105
Sandestig-Stefanova Syndrome	Rocker bottom foot, Underdeveloped tragus, Muscular ventricular septal defect, Wide nasal bridge,...	OMIM:618804
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the ...	OMIM:619562
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Abnormal ciliary motility, Recurrent otitis media, Ciliary ...	OMIM:611884
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Abnormal dental mo...	ORPHA:3253
Mosaic Trisomy 8	Micrognathia, Protruding ear, Deeply set eye, High palate, Vesicoureteral reflux, Clinodactyly of...	ORPHA:96061
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Anteverted ears, Dental malocclusion, Deeply set eye, Macrotia	OMIM:615541
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Bicornuate uterus, Bilateral renal agenesis, Pulmonary hypoplasia, ...	OMIM:191830
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Hypotelorism, Neutropenia, Micr...	OMIM:227646
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Hypertelorism, Wide nasal bridge, Cleft palate, Bifid uvula, Dysplastic pulmonar...	OMIM:300958
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Optic nerve hypoplasia, Deeply set eye, Short philtrum, Open mouth, Short nose	ORPHA:228384
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Vesic...	ORPHA:116
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Conductive hearing impairment, Senso...	ORPHA:921
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Micrognathia, Clinodactyly, Renal cyst, Bilater...	OMIM:618460
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the maxilla, High, na...	ORPHA:1101
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid...	ORPHA:2588
Ciliary Dyskinesia, Primary, 22	Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Immotile cilia, Respira...	OMIM:615444
Jacobsen Syndrome	Long hallux, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad hallux phalanx, Fi...	ORPHA:2308
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly...	ORPHA:93259
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Intestinal obstruction, Hypoplasia of penis, Abnormal dental e...	ORPHA:2323
1Q44 Microdeletion Syndrome	Smooth philtrum, Optic disc hypoplasia, Exaggerated cupid's bow, Hypertelorism, Micrognathia, Hyd...	ORPHA:238769
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Polyhydramnios, Flexion contracture, Congenital pyloric atresia, Deeply set eye, Microtia	OMIM:612138
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Mic...	OMIM:245600
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypertelorism, Joint hyperflexibility, Hi...	ORPHA:3375
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Conductive hearing impairment, Atrial se...	OMIM:600373
3Q29 Microdeletion Syndrome	Dental crowding, Hypospadias, Tapered finger, Abnormality of the dentition, Patent ductus arterio...	ORPHA:65286
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of...	OMIM:615771
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Cleft upper lip, Cryptorchidism, Sensorineural hearing impairment, Cleft palate, Micr...	OMIM:147950
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Asthma, Orofacial cleft, Hypotel...	ORPHA:280200
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Hypertelorism, Patent foramen ovale, Patent ductus arter...	OMIM:618652
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Vissers-Bodmer Syndrome	Holoprosencephaly, Tapered finger	OMIM:619033
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Polyhydramnios, Hypertelorism...	ORPHA:1812
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidn...	DECIPHER:81
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph...	OMIM:184705
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Deeply set eye, Vesicoureteral reflux, Atrial se...	OMIM:118450
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Protruding ear, Deeply set...	OMIM:613458
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Joint hypermobility, Unilateral renal agenesis, Cleft lip, Pierre-Robin...	OMIM:619504
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of...	OMIM:141400
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption...	ORPHA:912
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing impairment,...	ORPHA:959
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplasia ...	OMIM:619512
Digeorge Syndrome	Micrognathia, High, narrow palate, Abnormal thymus morphology, High palate, Short philtrum, Hypop...	OMIM:188400
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Cerv...	OMIM:609654
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Agenesis of cerebellar vermis, Postaxial hand polyda...	OMIM:220220
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypo...	ORPHA:1647
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Edema, Metaphyseal sclerosis, Perica...	ORPHA:2905
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Orofacial cleft, Cerebellar malfor...	ORPHA:324416
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Deeply set eye, Hepatomegaly, Hypertelorism, Thick vermilion border, Low-set ears...	OMIM:252940
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypertelorism, Hypoplasia of the maxilla, Conductive hearing impairment, Hydrocephalus, Respirato...	ORPHA:93262
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Conica...	OMIM:263750
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Fragile skin, Porphyrinuria	OMIM:176090
Larsen Syndrome	Short metatarsal, Shallow orbits, Atrial septal defect, Conductive hearing impairment, Spina bifi...	OMIM:150250
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Hypotelorism, Short philtrum, Holoprosenc...	ORPHA:1449
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Optic atrophy, Deviation of finger, Deeply set eye, Bilateral ta...	ORPHA:1154
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod...	ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Hydrocephalus, Flexion contracture, Cardiomyopathy, Hypoplasia of t...	OMIM:613155
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, ...	OMIM:619488
Luo-Schoch-Yamamoto Syndrome	Abnormal pinna morphology, Hypertelorism, Small hand, Short foot, Widely-spaced maxillary central...	OMIM:619460
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Hypertelorism, Triangular mouth, Flattened...	OMIM:607131
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus, High palate, Short philtrum, Macrotia, Hearing imp...	ORPHA:85335
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Posteriorly rotated ears, Exaggerated cupid's bow, Coxa valga, Hypert...	OMIM:619833
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Deeply set eye, Abnormal o...	ORPHA:96121
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Single transverse palmar crease, Micrognathia, High palate, Arachnod...	OMIM:618348
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Partial agenesis of the corpus callosum, Epiphyseal stippling, Hypoplasia of th...	ORPHA:86822
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Ectopic kidney, Hypertelorism, Hydrocephalus, Tracheoeso...	ORPHA:268249
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Prader-Willi Syndrome Due To Translocation	Micrognathia, Hypotelorism, Downturned corners of mouth, Deeply set eye, High palate, Clinodactyl...	ORPHA:177907
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Carious teeth, Micrognathi...	OMIM:618363
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Metatarsus adductus, Abnorm...	ORPHA:513456
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Prot...	OMIM:108145
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Omphalocele, Thin upper lip vermilion, Microretrognathia, Asymmetry of the ea...	OMIM:619124
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Thin upper lip vermilion, Abnormal pinna morphology, Micrognathia, Thick lower lip...	OMIM:614104
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Polyhydramnios, Bicuspid pulmonary valve, Abnorma...	ORPHA:709
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Long nose, Cryptorchidism, Dental malo...	ORPHA:2115
Temtamy Syndrome	Dental crowding, Hypertelorism, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe...	OMIM:218340
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Joint laxity, Rieger ...	OMIM:269880
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Penile freckling, Hypertelorism, Preaxial hand polydactyly, Foot polydactyl...	ORPHA:210548
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Respiratory distress, Short femur, Decreased CSF copper concentration, Cardio...	OMIM:620306
Osteootohepatoenteric Syndrome	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosi...	OMIM:619377
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebell...	ORPHA:59315
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Hy...	OMIM:612940
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Hypertelorism, Long fingers, Increa...	ORPHA:357001
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Joint hypermobility, Limited elbow movement, Cleft upp...	OMIM:265050
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Hypert...	OMIM:300244
Ethanolaminosis	Death in infancy, Cardiomegaly	OMIM:227150
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali...	ORPHA:96148
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Multip...	OMIM:618291
Tyrosinemia, Type I	Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Atrial septal defect, Joint stiffnes...	ORPHA:1915
Trisomy 10P	Micrognathia, Abnormality of the ear, Orofacial cleft, High palate, Gastroesophageal reflux, Abno...	ORPHA:171929
Lethal Recessive Chondrodysplasia	Polyhydramnios, Micromelia, Edema, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Tapered finger, Cryptorchidism, Short toe, Orofacial cleft, Joint hyperflexi...	ORPHA:127
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Increased CSF ...	OMIM:614922
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned...	ORPHA:369837
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Cra...	OMIM:614114
Temple Syndrome	Decreased testicular size, Micrognathia, Precocious puberty, Cryptorchidism, Hydrocephalus, Small...	OMIM:616222
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo...	ORPHA:781
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Carious teeth, Thick lower lip vermilion, Narrow palate, Deeply set eye, Narrow ...	ORPHA:457365
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Broad toe, Tented upper lip vermilion, Exaggerated cupid's bow, Fetal pyelectasis, Gingival overg...	OMIM:616900
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Hypertelorism, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairm...	OMIM:616910
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Aplasia/Hypoplasia o...	ORPHA:93298
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Abnormal rib morphology, Cleft...	ORPHA:2345
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Deeply set eye, Microphthalmia, Microp...	OMIM:610756
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Abnormal cortical gyration, Patent ductus arteriosus, Flexion cont...	OMIM:616867
Fetal Valproate Spectrum Disorder	Omphalocele, Narrow mouth, Downturned corners of mouth, Thin vermilion border, Long philtrum	ORPHA:1906
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Christianson Syndrome	Mandibular prognathia, Joint hyperflexibility, Deeply set eye, Gastroesophageal reflux, Dysphagia...	ORPHA:85278
Lissencephaly 8	Occipital encephalocele, Type II lissencephaly, Retrocerebellar cyst, Hypoplasia of the brainstem...	OMIM:617255
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, High, narrow palate, Thick lower lip vermilion, Wide mouth, Deeply set eye, Macrotia	OMIM:617268
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Splenomegaly, Hydrocephalus, Res...	OMIM:610333
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Atrial septal defect, Prominence of the premaxilla, Wide anterior ...	OMIM:614886
Limb Body Wall Complex	Abnormality of the liver, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proxi...	ORPHA:2369
Trigonocephaly 1	Omphalocele, High, narrow palate, Long penis, Hypotelorism, Long philtrum	OMIM:190440
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterot...	OMIM:207950
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, Micrognathia	OMIM:601809
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Renal hypoplasia/apla...	ORPHA:1756
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin...	ORPHA:50945
Desmosterolosis	Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posterio...	ORPHA:35107
Ohdo Syndrome, X-Linked	Micrognathia, High palate, Widely spaced teeth, Microdontia, Micropenis, Hiatus hernia, Hypertelo...	OMIM:300895
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Micropht...	OMIM:619981
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Spondylocostal Dysostosis 1, Autosomal Recessive	Recurrent respiratory infections, Rib fusion	OMIM:277300
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Cerebellar vermis hypoplas...	ORPHA:220497
Acrofrontofacionasal Dysostosis	Hypospadias, Camptodactyly of finger, Micromelia, Hypertelorism, Non-midline cleft lip, Cleft pal...	ORPHA:1784
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Single transverse palmar crease, Renal hypoplasia, Hypotelorism, High pa...	OMIM:619053
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi...	ORPHA:60041
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,...	ORPHA:90650
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Optic atrophy, Wide mouth, Joint hyperflexibili...	ORPHA:60040
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Posteriorly rotated ears, Episodic t...	ORPHA:163961
Proboscis Lateralis	Anophthalmia, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Holoprosencephaly...	ORPHA:141099
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ...	ORPHA:391641
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo...	ORPHA:2772
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Ovotestis, Cle...	OMIM:611812
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Recurrent respiratory infections, Hype...	ORPHA:10
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coro...	OMIM:618845
Hartsfield Syndrome	Syndactyly, Median cleft lip, Hypospadias, Posteriorly rotated ears, Alobar holoprosencephaly, Hy...	OMIM:615465
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Micromelia, Micrognathia, Short thorax, Short foot, Aplasia/H...	ORPHA:93299
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Lymphedema, Anteriorly ...	ORPHA:314679
Encephalopathy Due To Sulfite Oxidase Deficiency	Deeply set eye, Aminoaciduria, Thick vermilion border, Long philtrum, Short nose	ORPHA:833
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Gastroeso...	OMIM:182212
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max...	ORPHA:1540
Constricting Bands, Congenital	Encephalocele, Syndactyly, Omphalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Ha...	OMIM:217100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Single transverse palmar crease, Proteinuria, Glomerulonephritis, Hip ...	OMIM:619428
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate, Protruding ear, Decreased testicular size, Hearing impairment	ORPHA:85273
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impa...	OMIM:214300
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoosp...	ORPHA:2183
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubu...	ORPHA:1909
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Hypotelorism, Prominent median palatal raphe, Holoprosencephaly, T...	OMIM:147250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib...	ORPHA:2180
Joubert Syndrome 3	Central apnea, Enlarged fossa interpeduncularis, Frontal polymicrogyria, Cerebellar vermis hypopl...	OMIM:608629
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Uplifted earlobe, Cryptorchidism, Narrow palate, Micropenis,...	ORPHA:364028
Pitt-Hopkins Syndrome	Short fourth metatarsal, Single transverse palmar crease, Deep philtrum, Deeply set eye, Short ph...	OMIM:610954
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Hepatomegaly, Hypopla...	OMIM:253200
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Ure...	OMIM:601389
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Metap...	ORPHA:166035
Donohue Syndrome	Adipose tissue loss, Long penis, Abnormality of the abdominal wall, Gingival overgrowth, Cholesta...	OMIM:246200
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Hyperplas...	OMIM:300280
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Protr...	ORPHA:319171
Alazami Syndrome	Wide mouth, Slender long bone, Deeply set eye, Thick vermilion border, Short philtrum, Widely spa...	ORPHA:319671
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Deeply set eye, Short philtrum, Joint contracture of...	ORPHA:363611
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art...	ORPHA:51608
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, High palate, Gastroesophage...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Bicuspid aortic valve, Polyhydramnios, Micrognathia, High palate, Gastroesophage...	ORPHA:353277
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Achondroplasia	Rhizomelia, Hearing impairment, Hip joint hypermobility, Bowing of the legs, Short proximal phala...	ORPHA:15
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypertelorism, Hypoplasia of the...	OMIM:109120
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Abnormal rib morphology, Torus palatinus, Clavi...	ORPHA:2790
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft pala...	OMIM:613823
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Microdontia, Hepat...	OMIM:607014
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal...	OMIM:619103
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Deeply set eye, ...	OMIM:141300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Ventriculomegaly	OMIM:614830
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Spina bifida, Micrognat...	ORPHA:1393
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagi...	ORPHA:2237
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ...	ORPHA:2643
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Posteriorly rotated ears, Pierre-Robin sequence, Downturned c...	OMIM:611961
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Fe...	OMIM:274000
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Dental crowding, Joint hypermobility, Micrognathia, Vascular dilatation, Long ...	OMIM:618343
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Pectus carinatum, Narrow greater sciatic notch, Widely spaced teeth, Large iliac ...	OMIM:253220
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ...	OMIM:218350
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Absent thumb, Aplasia/Hypoplasia of the dist...	ORPHA:1234
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Renal dy...	ORPHA:2578
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, L...	ORPHA:280356
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Proximal p...	ORPHA:261211
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Zechi-Ceide Syndrome	Mandibular prognathia, Sandal gap, Cleft lip, Conductive hearing impairment, Short metatarsal, Ab...	ORPHA:217017
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Prominent veins on t...	ORPHA:2962
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Sensorineural hearing impairment, Chronic kidney ...	OMIM:602152
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Polyhydramnios, Hearing impairm...	OMIM:618846
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Macroorchidism, ...	OMIM:309520
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Abnormality of the kidney, Postaxial polydactyly, Hearing impairment...	OMIM:209900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor...	OMIM:607091
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Posteriorly rotated ears, Taper...	OMIM:618430
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr...	OMIM:613313
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cerebellar vermis hypoplasia, Apnea, Decreased CSF serine concentration, Decrea...	OMIM:610992
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Biliary tract abnormality, Membranous subvalvula...	ORPHA:3191
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Orofacial cleft, Atrial septal defect, Advanced eruption of teeth, Clinodactyly o...	ORPHA:1519
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Clubbing of fingers, Gingival bleeding, Le...	ORPHA:335
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria...	OMIM:610205
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Micrognathia, Pectus excav...	ORPHA:2522
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Hypertelorism, Wide nasal bridge, Cleft palate, Protruding ear, Hydroce...	OMIM:619493
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Bilateral cryptorchidism, Deeply set eye, High palate, Gastroesophageal reflux, Pat...	OMIM:613457
Braddock Syndrome	Unilateral renal agenesis, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, Micrognathi...	ORPHA:52047
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus	OMIM:209970
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypotelorism, Atrial septal defect, Bifid uvula, Joint laxity, Tapered finger, Patent ductus arte...	OMIM:300968
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Increased stool alpha1-antitrypsin concentration, Pericardial effusio...	ORPHA:90362
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Posteriorly rotated ears, Joint hypermobility, Long nose, H...	OMIM:618590
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Wide anterior fontanel, Macroglossia, Umbilical hernia	OMIM:275100
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna...	ORPHA:93333
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, Vesicoureteral re...	OMIM:107480
Joubert Syndrome 10	Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Thick vermilion border, Low-set ears	OMIM:300804
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Abnormality of the lymph...	ORPHA:276280
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Nizon-Isidor Syndrome	Thin upper lip vermilion, Hypospadias, Hypertelorism, Long fingers, High, narrow palate, Upper ey...	OMIM:618872
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d...	OMIM:157800
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t...	OMIM:617107
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car...	OMIM:232220
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period...	ORPHA:79259
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Cryp...	OMIM:601499
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Cerebellar hypoplasia, Infer...	OMIM:304100
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Renal hypoplasia/aplasia, Abnorma...	ORPHA:971
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de...	ORPHA:2729
Combined Oxidative Phosphorylation Deficiency 31	Micrognathia, Wide mouth, Deeply set eye, Left ventricular noncompaction, Hypertrophic cardiomyop...	OMIM:617228
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Knee flexion contracture, Widely spaced teeth, Camptodactyl...	OMIM:619694
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, Neurogenic bladder, Tented upper lip vermilion, Ventricular sep...	ORPHA:488632
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ...	ORPHA:556955
Diencephalic Syndrome	Large hands, Hydrocephalus, Long penis, Everted lower lip vermilion	ORPHA:1672
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hearing impairment, Micrognathia, Capitate-hamate fusion, Short toe, Limited el...	OMIM:614078
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval...	OMIM:609053
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, Bicuspid aortic valve, High, narr...	OMIM:309800
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increas...	OMIM:261740
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, A...	ORPHA:2209
Craniofacioskeletal Syndrome	Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, A...	OMIM:300712
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Epispadias, Ag...	ORPHA:2556
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary too...	ORPHA:1787
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Tibial bowing, Hypotelorism...	OMIM:601812
Meier-Gorlin Syndrome 3	Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch...	OMIM:613803
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Hypertelorism, Wide nasal bridge, Deeply set eye, Thin vermilion border, Short phil...	ORPHA:261304
Proximal 16P11.2 Microduplication Syndrome	Thin upper lip vermilion, Arachnodactyly, Hypertelorism, Deeply set eye, Microtia, Micropenis, Sm...	ORPHA:370079
Vici Syndrome	Micrognathia, Hypotelorism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palat...	OMIM:242840
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Deeply set ...	OMIM:619013
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera...	ORPHA:96179
Mucopolysaccharidosis, Type Ii	Flexion contracture, Widely spaced teeth, Hepatomegaly, Split hand, Hepatosplenomegaly, Umbilical...	OMIM:309900
Cog1-Cdg	Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence, Rib fusion...	ORPHA:263508
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Hypospadias, Opti...	OMIM:206900
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognat...	OMIM:616367
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Long nose, Cryptorchidism, Sensorineural hearing impai...	OMIM:616541
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Short 5th fin...	ORPHA:397590
Joubert Syndrome 22	Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, ...	OMIM:615665
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Widely spaced teeth, Hernia, Cough, Microdontia, Split hand, Gingival overgrowt...	ORPHA:579
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Bifid scrotum, Hypospadias, E...	ORPHA:2211
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Hypotelorism, Downturned corners of mouth, Deeply set eye, Short philtrum, Widel...	OMIM:301044
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,...	ORPHA:3015
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Abnormal tricuspid v...	ORPHA:192
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Lateral c...	ORPHA:1801
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo...	OMIM:156510
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Carious teeth, Abnorm...	ORPHA:1110
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Sensorineural hearing impairment, Deeply se...	OMIM:600430
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Intestinal pseudo-obstruction, A...	ORPHA:73246
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Testicular mass, ...	ORPHA:457083
Bachmann-Bupp Syndrome	Thin upper lip vermilion, Dilation of Virchow-Robin spaces, Polyhydramnios, Hypertelorism, Crypto...	OMIM:619075
Bainbridge-Ropers Syndrome	Dental crowding, Polyhydramnios, Micrognathia, Contracture of the proximal interphalangeal joint ...	OMIM:615485
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Renal ...	ORPHA:137675
X-Linked Intellectual Disability, Cilliers Type	Hypospadias, Cryptorchidism, Small hand, Deeply set eye, Clinodactyly of the 5th finger, Coronal ...	ORPHA:163971
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndact...	OMIM:129400
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, High, narrow palate, Right ventricular dilatation, High palate, Atrial sept...	OMIM:612863
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, ...	ORPHA:1529
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defe...	ORPHA:353281
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Ventricular septal defect, Micrognathia...	OMIM:616730
Microhydranencephaly, X-Linked	Multiple joint contractures, Holoprosencephaly	OMIM:306990
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Short Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Hypertelorism, Abnormal zygomati...	ORPHA:3163
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Renal cyst, Protruding ear, Deeply set eye, Gastroesophageal reflux,...	ORPHA:464306
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Micrognathia, Agenesis of corpus callosum, Paten...	OMIM:301043
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Micrognathia, Hypertelorism, Optic atrophy, Gingival overgrowth, Short upper lip, Deeply set eye,...	OMIM:616875
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp...	ORPHA:894
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Hypotelorism, Lissencephaly, Cerebellar hypoplasia...	OMIM:218670
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathi...	OMIM:250410
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Hypertelorism...	OMIM:201180
Acrocallosal Syndrome	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Cryptorchidism, Pos...	ORPHA:36
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Atrial septal defect, Mandibular prognathia, Arachnodactyly, Bicuspid aortic valve,...	OMIM:619721
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Abnor...	ORPHA:531151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cereb...	OMIM:615181
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Atrial septal defect, Gastritis, Bicuspid aortic valve, Ventricula...	ORPHA:84064
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi...	ORPHA:1278
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Hypertelorism, Sensorineural hearing impairment, Hip dislocation, Downturne...	ORPHA:464282
Trisomy 9P	Dental crowding, Bilateral single transverse palmar creases, Hypertelorism, Non-midline cleft lip...	ORPHA:236
Cohen Syndrome	Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, High, narrow pal...	OMIM:216550
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Long...	OMIM:616914
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Single transvers...	OMIM:619320
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Hypertelorism, Cryptorchidis...	OMIM:614230
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Micrognathia, Abnormal erythrocyte morphology, Folate-unresponsive megalo...	ORPHA:2575
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Polyhydramnios, Generalized osteosclerosis, Fetal ascites, Squared ilia...	OMIM:215045
Congenital Enterovirus Infection	Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,...	ORPHA:292
Encephalocraniocutaneous Lipomatosis	Dandy-Walker malformation, Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Hydroc...	OMIM:613001
Fanconi Anemia, Complementation Group F	Polyhydramnios, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-...	OMIM:603467
Warburg Micro Syndrome 2	Overlapping toe, Asymmetry of the ears, Cryptorchidism, Flexion contracture, Optic atrophy, Short...	OMIM:614225
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Hepatosplenomegaly, Cholest...	OMIM:619858
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Neuralgic Amyotrophy	Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubuloint...	ORPHA:449395
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Synostosis of carpal bones, H...	ORPHA:3258
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Hypoplasia of the...	ORPHA:950
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Proximal placement of thumb, Micrognathia, Downturned corners of mouth, Her...	OMIM:217980
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Decreased response to growth hormone stimulation test, Taper...	ORPHA:485405
Non-Syndromic Metopic Craniosynostosis	Omphalocele, Hypotelorism	ORPHA:3366
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainste...	ORPHA:444072
Genitopatellar Syndrome	Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Anteriorly placed an...	OMIM:606170
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperly...	OMIM:616034
Tetraploidy	Renal hypoplasia/aplasia, Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the...	ORPHA:3305
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Biliary hyperplasia, Cardiomegaly, Aminoaciduria, Protein-losing...	OMIM:619991
Esophageal Atresia	Omphalocele, Recurrent respiratory infections, Respiratory distress, Cyanosis, Ventricular septal...	ORPHA:1199
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f...	OMIM:218000
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Hypertelorism, Clef...	OMIM:619736
Microphthalmia, Syndromic 6	Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, Hi...	OMIM:607932
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit...	OMIM:601803
7Q31 Microdeletion Syndrome	Atrial septal defect, Hypertelorism, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Patent...	ORPHA:251061
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Hypertel...	OMIM:258865
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Hypotelorism, Deeply set eye, Aminoaciduria, Short philtrum, ...	OMIM:603585
Nephronophthisis 15	Elevated hepatic transaminase, Polydactyly, Nephronophthisis	OMIM:614845
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe...	ORPHA:352665
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu...	OMIM:617052
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, Single t...	OMIM:210600
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Absent thumb,...	OMIM:300514
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, ...	OMIM:616268
Orofaciodigital Syndrome Xi	Cleft palate, Gastroesophageal reflux, Wide nasal bridge, Postaxial polydactyly	OMIM:612913
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite level, Deeply set eye, Dec...	OMIM:272300
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Intermittent hyperventilation, Hypertelorism, Preaxial polydactyly, Abnormality of ...	ORPHA:163681
Renal Agenesis	Renal insufficiency, Absent vas deferens, Proteinuria, Ventricular septal defect, Unilateral rena...	ORPHA:411709
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metatarsal, Deeply set eye, Short metacarpal, Rhizomelia...	OMIM:614813
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Ventricular septal defect, B...	OMIM:617751
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Congenital hip dislocation, Ventricular septal defect, Rocker bottom fo...	ORPHA:3078
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Ectodermal dysplasi...	OMIM:129900
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Knee flexion contracture, High palate, Atrial septal defect, Clinodactyly of t...	OMIM:618162
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Dark yellow urine, Atretic gallblad...	ORPHA:30391
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Micrognathia, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis,...	OMIM:619708
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypertelorism, Hypopla...	ORPHA:391474
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membran...	OMIM:615862
Intellectual Developmental Disorder, Autosomal Recessive 45	Hypertelorism, Wide nasal bridge, Deeply set eye, Thick vermilion border, Retrognathia	OMIM:615979
Lethal Osteosclerotic Bone Dysplasia	Posteriorly rotated ears, Micrognathia, Gingival fibromatosis, Gingival overgrowth, Proptosis, Lo...	ORPHA:1832
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t...	ORPHA:107
Cloacal Exstrophy	Omphalocele, Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/apl...	ORPHA:93929
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Trisomy 12P	Micrognathia, Hypertelorism, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Aplasi...	ORPHA:1699
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Situs inversus totalis, H...	ORPHA:475
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Abnormality of the denti...	ORPHA:251038
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Mend Syndrome	Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Hypertelorism, Asymmetry of t...	ORPHA:401973
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia...	OMIM:258860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorin...	OMIM:615249
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Protruding ear, High palate, Bilateral single transverse palmar creases, Multicys...	ORPHA:261349
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, High palate, Narrow mouth	ORPHA:2528
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Metaphyseal widening, Abnormal thorax ...	ORPHA:73230
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:615486
Lateral Meningocele Syndrome	Bicuspid aortic valve, Dental crowding, Micrognathia, Chiari type I malformation, High palate, Co...	OMIM:130720
Seckel Syndrome 2	Hypospadias, Micrognathia, Ectopic kidney, Clinodactyly of the 5th finger, Microdontia, Microglos...	OMIM:606744
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture, Simplified gyral pattern	OMIM:619470
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst, Respiratory insufficiency, Molar tooth sig...	OMIM:614970
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, High palate, Micro...	ORPHA:456328
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Hypoplasi...	ORPHA:352682
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol...	ORPHA:2306
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Atelectasis, Gla...	OMIM:300219
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Cleft upper lip,...	OMIM:304110
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Neonatal respiratory distress, Hypertelorism, Secundum atrial septal defect, P...	OMIM:616866
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Deeply set eye, Wide nasal bridge	ORPHA:137831
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Nephroblastoma, Palmar pits, Narro...	ORPHA:77301
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation, Abnormal femur ...	ORPHA:2063
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligoda...	ORPHA:1788
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Dental crowding, Polyhydramnios, Micrognathia, Achilles tendon...	OMIM:620351
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Cockayne Syndrome Type 3	Flexion contracture, Deeply set eye, Adult onset sensorineural hearing impairment, Gastroesophage...	ORPHA:90324
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Gastroesophageal reflux, Shallow orbits, V...	OMIM:616580
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus ...	OMIM:601927
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Otosclerosis, Micrognathia, Hypertelorism, Patent ductus arteriosus aft...	ORPHA:529962
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Kleefstra Syndrome 1	Mandibular prognathia, Single transverse palmar crease, Conotruncal defect, Gastroesophageal refl...	OMIM:610253
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow pa...	ORPHA:2462
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Hypertelorism, Anteverted ears, Deeply set eye, Clinodactyly, ...	OMIM:618087
Witteveen-Kolk Syndrome	Glue ear, Proximal placement of thumb, Polyhydramnios, Uplifted earlobe, High, narrow palate, Cli...	OMIM:613406
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Atrial septal d...	OMIM:309500
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Ventriculomegaly, Cyanosis, Proteinuria, Dysplastic corpus callosum, Sensorineural hearing impair...	ORPHA:488627
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Increase...	ORPHA:77261
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxi...	ORPHA:306542
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, Molar tooth sign on MRI, ...	OMIM:614615
Acrocephalopolydactyly	Abnormal renal morphology, Hepatosplenomegaly, Short long bone, Limb undergrowth, Thoracic hypopl...	ORPHA:221054
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Craniosynostosis, Hearing impairment, Hypertelorism, Wide mouth, Dee...	OMIM:619056
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Generalized joint laxity, Functional abnormality of the bladder, Protru...	ORPHA:2953
Kleeblattschaedel	Hydrocephalus, Proptosis, Elbow ankylosis	OMIM:148800
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Lissencephaly, High palate, Low-s...	OMIM:300215
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia, Postaxial polydactyly	OMIM:615985
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Neonatal Marfan Syndrome	Long toe, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Abnormal cardiac ventr...	ORPHA:284979
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Joubert Syndrome 36	Molar tooth sign on MRI, Sensorineural hearing impairment, Mesoaxial hand polydactyly, Open mouth	OMIM:618763
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Hypertelorism, Hypoplasia of the pons, Retinal tel...	OMIM:620157
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Upper limb asymmetry, Protruding ear, High palate, Polydactyly, Clinodactyly of ...	ORPHA:231140
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorc...	ORPHA:494344
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe...	OMIM:220200
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnorma...	ORPHA:284160
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Asymmetry of the ears, Hypertelorism, Bilateral cryptorchidism, Cryptorchidism,...	OMIM:617796
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Hydroureter, Abn...	ORPHA:568
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Hypotelorism, Hypoplastic vertebral bodies, Holoprosencephaly, Clinodactyly of the 5t...	ORPHA:2163
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Macrotia, Thick lower lip vermilion, Simplified gyral pattern, Prom...	OMIM:614407
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis...	OMIM:613320
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin...	ORPHA:2658
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Pectus excavatum, Patent ductus arteriosus...	OMIM:104350
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Leukocytosis, Flexion contract...	OMIM:619321
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, ...	OMIM:610536
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Protruding ear, Deeply set eye, Gastroesophageal reflux, Micropenis, ...	ORPHA:464311
47,Xyy Syndrome	Hypospadias, Hypertelorism, Cryptorchidism, Hydrocephalus, Asthma, Abnormal brainstem morphology,...	ORPHA:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Protruding ear, Hypotelorism, Deeply set eye, Oligodontia, Hig...	OMIM:309590
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Abnormal pinna morphology, Posteriorly rotated ears, Hypertelorism, Sen...	OMIM:616708
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Renal agenesis, Absent thumb, Absent radius, Ectopic k...	OMIM:602200
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Sensorineural hearing impairment, Cl...	OMIM:607371
Williams Syndrome	Osteopenia, Periorbital edema, Protruding ear, Nephrocalcinosis, Microdontia, Abnormal dental ena...	ORPHA:904
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, High palate, Gastroesophageal reflux,...	OMIM:619325
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Wide anterior fontanel, Renal cyst, Multiple renal cysts, Decrease...	OMIM:614883
Pontocerebellar Hypoplasia, Type 7	Single transverse palmar crease, Micrognathia, Cryptorchidism, Deep philtrum, Hydrocephalus, Pect...	OMIM:614969
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc...	ORPHA:254516
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Hydroce...	OMIM:614083
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, H...	OMIM:251300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu valgum, An...	ORPHA:1381
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Urinary incontinence, Downturned corners of mout...	OMIM:301025
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad hallux, Tapered finger, Micrognathia, Short thumb, Long nose, Cryptorchidism, Wide mouth, D...	OMIM:620224
Localized Scleroderma	Abnormality of the kidney, Abnormality of the dentition, Vasculitis, Dental malocclusion, Flexion...	ORPHA:90289
C Syndrome	Micromelia, Congenital diaphragmatic hernia, Micrognathia, High palate, Clinodactyly of the 5th f...	ORPHA:1308
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Pectus excavatum, Patent ductus arteriosus, Tetral...	ORPHA:2847
Intellectual Developmental Disorder, Autosomal Dominant 68	Broad hallux, Urinary incontinence, Posteriorly rotated ears, Patent ductus arteriosus, Narrow pa...	OMIM:619934
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Cardiomega...	OMIM:618143
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, M...	OMIM:618021
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Osteopathia Striata-Cranial Sclerosis Syndrome	Micrognathia, High, narrow palate, Conductive hearing impairment, Large iliac wing, Spina bifida ...	ORPHA:2780
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, Micropht...	OMIM:601707
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate,...	ORPHA:2728
Holoprosencephaly 3	Cleft lip, Cleft palate, Hypotelorism, Bifid uvula, Proptosis, Holoprosencephaly, Solitary median...	OMIM:142945
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus,...	ORPHA:1571
Mullegama-Klein-Martinez Syndrome	Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Facial palsy, Cleft li...	OMIM:301022
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Edema, Renal cyst, Proximal tubulopathy, Protein-losing enteropath...	OMIM:602579
Dominant Beta-Thalassemia	Bowing of the long bones, Abnormality of the dentition, Hypersplenism, Splenomegaly, Jaundice, Di...	ORPHA:231226
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Small earlobe, Micropeni...	OMIM:608156
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Narrow mouth, Cryptorchidism, Flexion contracture, Opt...	OMIM:615663
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte...	OMIM:601355
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Hepatic steatosis, Ulnar deviation of the 3rd finger, Pancreati...	OMIM:616263
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl...	ORPHA:2554
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Deeply set eye, Cardiomegaly	OMIM:619064
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ectodermal dysplasia, Death in childhood, Neonatal death, Atrial septal defect, Death in infancy,...	OMIM:308205
Omphalocele	Omphalocele	ORPHA:660
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, Abnormal pelvic girdl...	ORPHA:2097
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Hypotelorism, Anterior...	ORPHA:1225
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
White Forelock With Malformations	Finger syndactyly, Atrial septal defect, Deep philtrum, Abnormal rib morphology, Clinodactyly of ...	ORPHA:2475
Johnson Neuroectodermal Syndrome	Facial palsy, Carious teeth, Preaxial hand polydactyly, Cleft palate, Protruding ear, Hand polyda...	ORPHA:2316
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ...	OMIM:272460
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d...	ORPHA:857
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm...	ORPHA:96263
Barth Syndrome	Mandibular prognathia, Cyclic neutropenia, Dilated cardiomyopathy, Abnormal mitochondrial morphol...	OMIM:302060
Oeis Complex	Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambi...	OMIM:258040
Progressive Hemifacial Atrophy	Deeply set eye, Abnormal mandible morphology, Micrognathia	ORPHA:1214
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pr...	OMIM:620370
19P13.12 Microdeletion Syndrome	Short palm, Atrial septal defect, Conductive hearing impairment, Clinodactyly of the 5th finger, ...	ORPHA:254346
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Pectus excavatum, Cryptorchidism, Narrow philtr...	ORPHA:163654
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Hepatomegaly, Pancytopenia, Ed...	OMIM:615846
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Conductive hearing impairment, Elevated ci...	OMIM:618500
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Cleft palate, Thin ribs, Slender long bone, Vesicoureteral reflux, Retrognathia, Hy...	OMIM:618265
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve...	OMIM:190685
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Conductive hearing impa...	ORPHA:199302
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst	OMIM:109130
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, Secundum atrial septal defect, Abnormally large globe, Protruding ear, ...	OMIM:249420
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Hearing impa...	ORPHA:466950
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Recurrent urinary tract infections, Tapered finger, Short 3rd toe, Joint hyperflexibility, Deeply...	OMIM:618707
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Deeply set eye, Short phil...	ORPHA:261190
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Thin upper lip vermilion, Overriding aorta, Sandal gap, Bicuspid aortic valve, Vent...	ORPHA:477817
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Thin upper lip vermilion, Cardiomegaly, Ectodermal dysplasia, Palmoplantar keratoderm...	OMIM:613576
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos...	ORPHA:828
1p36 microdeletion syndrome	Deeply set eye	DECIPHER:18
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Hematuria, Anemia, Thrombocytopenia	ORPHA:231111
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransf...	OMIM:278000
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
3M Syndrome	Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas...	ORPHA:2616
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Hurler Syndrome	Hepatomegaly, Abnormal clavicle morphology, Recurrent respiratory infections, Abnormal heart valv...	ORPHA:93473
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, High palate, Agenesis of corpus callosum, Bifid uvula, Hypospadias, Hyperte...	OMIM:123790
Alexander Disease	Death in infancy, Abnormal dentate nucleus morphology, Hydrocephalus, Death in adolescence, Death...	OMIM:203450
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ...	ORPHA:140
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Posteriorly rotated ears, Hearing impairment, Deeply set eye, Broad dis...	OMIM:617763
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Deep...	OMIM:133540
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co...	ORPHA:87
You-Hoover-Fong Syndrome	Accessory oral frenulum, Hearing impairment, Cleft palate, Vascular ring, Coarctation of aorta, C...	OMIM:616954
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Abnormal limb bone morphology, Abnormality of neuronal migration, Apl...	ORPHA:2204
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ...	OMIM:102370
Diamond-Blackfan Anemia 7	Osteopenia, Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Polyhydramni...	OMIM:612562
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinur...	OMIM:201475
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Deeply set eye, Microtia, Gastroesophageal reflux	OMIM:618158
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla...	ORPHA:1248
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Abnormal pinna morphology, Hypertelorism, Sensorineural hearing im...	ORPHA:35173
Silent Sinus Syndrome	Deeply set eye	ORPHA:71276
Nijmegen Breakage Syndrome	Anal stenosis, Autoimmune hemolytic anemia, Sandal gap, Sinusitis, Recurrent urinary tract infect...	OMIM:251260
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Esophageal...	OMIM:617053
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Recurrent fractures, Abnormal...	ORPHA:2314
Malan Overgrowth Syndrome	Optic disc pallor, Optic disc hypoplasia, Slender long bone, Deeply set eye, High palate, Narrow ...	ORPHA:420179
Lethal Congenital Contracture Syndrome 1	Neonatal death, Abnormal thorax morphology, Pulmonary hypoplasia, Micrognathia	OMIM:253310
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia,...	OMIM:610125
Farber Disease	Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund...	ORPHA:333
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Agenesis of corpus callosum	OMIM:274270
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Cerebellar vermis hypoplas...	ORPHA:2318
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Thickened helices, Broa...	OMIM:608328
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis...	OMIM:618775
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Deeply set eye	OMIM:619058
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Malformation of the h...	ORPHA:84081
Smith-Kingsmore Syndrome	Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Diastasis recti, Hypertelorism, Short prox...	OMIM:616638
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Abnormal pinna morphology, Hydrocephalus, Flexion co...	OMIM:147800
Congenital Tracheomalacia	Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Patent ductus arteri...	ORPHA:95430
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Hypertelorism, Osteoporosis, Joint hyp...	ORPHA:85194
Refsum Disease	Short metacarpal, Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Cardiomyop...	ORPHA:773
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Brachydactyly, Microphthalmia, Clinodactyly, Hearing impairment	OMIM:610023
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal...	ORPHA:261102
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing...	ORPHA:949
Leprechaunism	Hepatomegaly, Enlarged ovaries, Hypertelorism, Rectal prolapse, Long penis, Hypercalciuria, Megar...	ORPHA:508
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Micrognathia, M...	OMIM:156400
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Prominent superficial veins, Posteriorly rotated ears, Hypertelorism, Pyloric stenosi...	OMIM:614438
Amyotrophy, Hereditary Neuralgic	Cleft palate, Hypotelorism, Deeply set eye, Brachial plexus neuropathy, Low-set ears, Narrow mouth	OMIM:162100
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone,...	ORPHA:96181
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Neonatal respi...	OMIM:310400
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Tapered fi...	OMIM:615560
Ritscher-Schinzel Syndrome 2	Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric...	OMIM:300963
Penile Agenesis	Fetal pyelectasis, Bilateral renal hypoplasia, Absent penis, Atrial septal defect, Urethral atres...	ORPHA:49
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Malar prominence, Micrognathia, Osteoporosis, Microphthalmia, Abnormalit...	ORPHA:48431
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P...	ORPHA:2869
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Hypotelorism, Triphalangeal thumb, Conductive hearing impairment, Clin...	ORPHA:794
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Polyhydramnios, Micrognathia, Pericardial effusion, Cryptorchidism, Hematochezia, Anasa...	OMIM:618183
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Anemia, Bone marrow h...	OMIM:617244
Joubert Syndrome 30	Cerebellar atrophy, Ventriculomegaly, Apnea, Postaxial hand polydactyly, Tachypnea, Gray matter h...	OMIM:617622
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc...	ORPHA:251004
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Small hand, Short foot, Deeply set eye, Thin vermilion border, Decreased testicul...	OMIM:300869
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog...	ORPHA:167
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle...	OMIM:619339
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal...	ORPHA:2167
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Dextrocardia, Situs inversus totalis, Abdominal situs inversus, Recurrent otitis media, Chronic s...	OMIM:619607
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Micrognathia, Crypt...	OMIM:620025
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Xerostomia, Anterio...	OMIM:604292
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Hydrocephalus, A...	ORPHA:538
Joubert Syndrome 13	Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Spondylocostal Dysostosis 5	Pectus carinatum, Posterior rib fusion, Supernumerary ribs, Missing ribs	OMIM:122600
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypoglycorrhachia, Cyanosis, Central apnea	ORPHA:71277
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones...	OMIM:271530
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp...	OMIM:211350
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Dental crowding, Hypospadias, Pierre-Robin sequence, Cleft palate, Oligodontia,...	OMIM:619184
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short metatarsal, Finger clinodactyly, Deeply set eye, Short phi...	ORPHA:2896
Mend Syndrome	Microretrognathia, Crossed fused renal ectopia, Overlapping toe, Broad hallux, Posteriorly rotate...	OMIM:300960
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Deeply set eye, Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata,...	OMIM:100300
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre...	OMIM:615273
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ...	OMIM:605231
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolys...	ORPHA:371428
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Micrognathia, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:225790
Arterial Tortuosity Syndrome	Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia...	ORPHA:3342
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mandibular prognathia, Bicuspid aortic valve, Single transverse pa...	OMIM:150230
Albers-Schönberg Osteopetrosis	Hearing impairment, Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hydroc...	ORPHA:53
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Hypertelorism, Splenomegal...	ORPHA:79332
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Protruding ear, Deeply set eye, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospa...	ORPHA:268261
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Tapered finger, Hypertelorism, Cryptorchidism, Pa...	OMIM:617159
Frontofacionasal Dysplasia	Encephalocele, Hypertelorism, Non-midline cleft lip, Cleft palate, Microphthalmia, Short nose	ORPHA:1791
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Fo...	OMIM:232200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Cockayne Syndrome A	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Deeply set eye, Square pelvi...	OMIM:216400
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Macrotia, 2-3 toe syndactyly, Deeply set eye, Thin vermilion border...	ORPHA:391307
Zimmermann-Laband Syndrome	Hallux valgus, Hepatomegaly, Micrognathia, Hypertelorism, Splenomegaly, Supernumerary tooth, Sens...	ORPHA:3473
Intellectual Developmental Disorder, Autosomal Dominant 47	Joint laxity, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Wide mout...	OMIM:617635
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Pedal edema, Lymphadenopathy, Clubbing of fing...	ORPHA:199241
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Agenesis of cerebellar vermis, Hypertelorism, Conical tooth, Cryptorchidism, Abnor...	ORPHA:228390
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Deeply set eye, Deep philtrum	OMIM:618859
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Scarring, Cleft palate, Cleft upper lip	ORPHA:398189
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Increased connective tissue, Respiratory insufficiency, High pa...	OMIM:255320
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s...	OMIM:614099
Crouzon Syndrome	Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Respiratory insufficiency...	ORPHA:207
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Oli...	ORPHA:453499
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Deeply set eye, Shor...	ORPHA:480898
Joubert Syndrome 32	Hypertelorism, Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polydac...	OMIM:617757
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Cox...	ORPHA:582
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Oral-pharyngeal dysphagia, High, narrow palate, Prominent protruding coccyx, Protrudi...	OMIM:300966
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Deeply set eye	OMIM:300699
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
Bohring-Opitz Syndrome	Apnea, Cardiomegaly, Micrognathia, Congenital contracture, Agenesis of corpus callosum, Prominent...	ORPHA:97297
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Hypertelorism, Dental malocclusion, Narrow palate, Micr...	OMIM:617883
Beta-Thalassemia Major	Hepatomegaly, Bowing of the long bones, Abnormality of the dentition, Hypersplenism, Splenomegaly...	ORPHA:231214
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Muenke Syndrome	Tarsal synostosis, Hypertelorism, High, narrow palate, Hydrocephalus, Sensorineural hearing impai...	ORPHA:53271
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad hallux, Arachnodactyly, Joint hypermobility, Hypertelorism, Hypoplasia of the maxilla, Flex...	ORPHA:481152
Achondrogenesis	Micromelia, Micrognathia, Short thorax, Aplasia/Hypoplasia of the lungs, Narrow chest, Long philt...	ORPHA:932
Hydrocephalus, Congenital, X-Linked	Thumb contracture, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Adducted thumb	OMIM:307000
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty...	OMIM:620072
Gorlin Syndrome	Mandibular prognathia, Arachnodactyly, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidi...	ORPHA:377
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Hydroceph...	OMIM:617667
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Abnormality of the dentition, Dilated cardiomyopathy, Palmoplantar hyperkerat...	OMIM:613989
Warburg Micro Syndrome 3	Micrognathia, Flexion contracture, Optic atrophy, Narrow palate, Downturned corners of mouth, Cli...	OMIM:614222
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hypertelorism, Pyloric stenosis, Hydrocephalus, Deeply set eye, Open ...	OMIM:616355
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Horner Syndrome, Congenital	Congenital Horner syndrome, Deeply set eye	OMIM:143000
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, E...	OMIM:267000
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux, Aganglionic megac...	OMIM:235750
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Patent ductus arteriosus, Deviation of ...	ORPHA:2412
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Monosomy 9P	Proximal placement of thumb, Micrognathia, Anotia, High palate, Bilateral single transverse palma...	ORPHA:261112
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Hypospadias, Micrognathia, Metatarsus adductus, Short thumb, Hig...	ORPHA:436003
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Tracheomalacia, Atelecta...	ORPHA:896
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Kabuki Syndrome	Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den...	ORPHA:2322
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, High, narrow palate, Hydrocephalus, Shoulder dislocation, Umbilical hernia, Adduc...	ORPHA:2181
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jau...	ORPHA:26793
Naxos Disease	Cardiomyopathy, Vertigo, Palmoplantar keratoderma, Cleft upper lip	ORPHA:34217
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Proptosis, Short distal phal...	ORPHA:2776
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Polyhydramnios, Micrognathia, Downturned corners...	OMIM:620186
Peho Syndrome	Cerebellar atrophy, Recurrent respiratory infections, Tapered finger, External ear malformation, ...	ORPHA:2836
Pontocerebellar Hypoplasia, Type 6	Deeply set eye, Gastroesophageal reflux, Elbow contracture, Narrow palate	OMIM:611523
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Vesicoureteral ...	ORPHA:96169
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Small scrotum, Intestinal malr...	OMIM:613658
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag...	OMIM:614749
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Ventricular septa...	ORPHA:457193
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Sensorineural hearing impairment, Ch...	ORPHA:541423
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Posteriorly rotated ears,...	ORPHA:2328
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Sensorineural hea...	ORPHA:3241
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Flexion co...	ORPHA:272
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Tented upper lip vermilion, Periventricular heterotopia, Hydrocephalus, Metaphy...	OMIM:618476
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip and palate, Hematuria, Micro...	ORPHA:1473
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Smooth philtrum, Posteriorly rotated ears, Patent ductus arteriosus, Deep philtrum, Renal cyst, R...	OMIM:617260
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Hearing impairment, Hypertel...	OMIM:616078
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Lymphadenopathy	ORPHA:411703
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Micrognathia, Deep philtrum, Abnormal heart morphology, High palate, ...	ORPHA:314655
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal...	OMIM:268400
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee...	OMIM:617402
Pettigrew Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Sensorin...	OMIM:304340
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Thin upper lip vermilion, Long nose, Cryptorchidism, Hypotelorism, Deeply ...	OMIM:300486
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Hyper...	OMIM:243150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Poor wound healing, ...	ORPHA:2072
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Atrial septal defect, Prominent fingertip pads, Atriov...	OMIM:300867
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Urinary incontinence, Wide anterior fontanel, Hydrocephalus, Palmoplantar cutis laxa,...	OMIM:616482
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Calcaneal epiphyseal stippling, Ventricular septal defect, Optic disc h...	ORPHA:79345
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Absent thumb, Absent radius, Short th...	OMIM:227650
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, High pala...	OMIM:612541
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Flexion contracture, Orofacial cleft, Gastroesophageal reflux, Hepatic steatosis, Patent foramen ...	ORPHA:17
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Pate...	ORPHA:2519
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Tubular lum...	OMIM:219730
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, Pectus carinatum, High pala...	OMIM:115150
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Absent thumb, Absent radius, Short th...	OMIM:600901
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Micrognathia, Sensorineural hearing impairment, Deeply set eye, High palate, Short p...	OMIM:609944
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy	ORPHA:1574
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Deeply se...	OMIM:619950
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypotelorism, Downturned corner...	OMIM:264090
Doors Syndrome	Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Downturned corners of mouth, ...	ORPHA:79500
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft ...	OMIM:153400
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Weakness of the intrinsic hand muscles, Weakness of ...	ORPHA:98913
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hypertelorism, Unil...	ORPHA:457284
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified g...	ORPHA:300570
Developmental And Epileptic Encephalopathy 64	Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Deeply set eye, Widely spaced ...	OMIM:618004
Holoprosencephaly 2	Median cleft lip and palate, Aplasia of the premaxilla, Malar flattening, Alobar holoprosencephal...	OMIM:157170
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Abnormality of the liver, Abnormality o...	ORPHA:228123
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Recurrent fractures, ...	ORPHA:83
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Micrognathia, Cupped ear, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial s...	ORPHA:93946
White Sponge Nevus 2	Edema	OMIM:615785
Meier-Gorlin Syndrome 5	Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular femoral epip...	OMIM:613805
Marfan Syndrome	Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Micrognathia, Flexion contracture, Inc...	OMIM:154700
Restrictive Dermopathy 2	Respiratory distress, Microretrognathia, Cyanosis, Hypoplastic facial bones, Overtubulated long b...	OMIM:619793
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short metacarpal, Tape...	OMIM:612350
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormal rib morph...	ORPHA:3068
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Abnorma...	ORPHA:3455
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Abnormal morphology of ulna, Pectus excavatum, Cryptorchidism, H...	ORPHA:1340
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Micrognathia, High palate, Micropenis, Hepatomegaly, Hypertelorism, Crypt...	ORPHA:1655
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Hypospadias, Edema, Micrognathia, External ear malformation, C...	ORPHA:2505
Cockayne Syndrome	Urinary incontinence, Deeply set eye, Congenital contracture, Retinal arteriolar constriction, Ga...	ORPHA:191
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Joint stiffness, Micrognath...	ORPHA:1300
Nasopalpebral Lipoma-Coloboma Syndrome	Hypertelorism, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, Clinodacty...	OMIM:167730
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Absent ou...	OMIM:615067
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,...	OMIM:269300
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi...	ORPHA:957
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis...	OMIM:617056
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Hyperteloris...	ORPHA:466943
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Multiple Pterygium-Malignant Hyperthermia Syndrome	Small scrotum, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomat...	ORPHA:2215
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ...	ORPHA:480880
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc...	ORPHA:397973
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hypoplasia of the maxilla, Hydrocephalus, Protruding ear	OMIM:618302
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Hypospadias, Posteri...	OMIM:619479
Weill-Marchesani Syndrome 1	Thin bony cortex, Ventricular septal defect, Joint stiffness, Hypoplasia of the maxilla, Patent d...	OMIM:277600
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Downturned corners of...	ORPHA:199
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 fin...	OMIM:615877
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Hypertelorism, Micrognathi...	ORPHA:1587
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Cleft palate, Hypoplasia of the uterus, Shield chest, Short philtrum, Cubitus val...	ORPHA:247768
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno...	ORPHA:1848
D-Glyceric Aciduria	Optic nerve hypoplasia, Single transverse palmar crease, Patent ductus arteriosus, Sensorineural ...	OMIM:220120
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Thickened ...	OMIM:617506
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo...	OMIM:610759
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename...	ORPHA:2791
Micro Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Joint stiffness, Cryptorchi...	ORPHA:2510
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of ren...	OMIM:120330
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, Cutaneous syndactyly...	OMIM:618332
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Multip...	OMIM:182940
Pai Syndrome	Encephalocele, Median cleft lip, Hypertelorism, Cleft palate, Abnormal oral frenulum morphology, ...	ORPHA:1993
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertelorism, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Ab...	ORPHA:1555
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Thick vermilion border, Cerebellar hypopla...	ORPHA:3137
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Inguinal hernia, Congenital hip dislocation, Cerebellar vermis hypoplas...	ORPHA:357058
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Cubitus valgus, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Proteus Syndrome	Lymphedema, Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Clinodactyly of the 5...	ORPHA:744
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,...	OMIM:618874
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida, Hypertelorism	ORPHA:1931
Marshall Syndrome	Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Thick lowe...	ORPHA:560
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b...	OMIM:613776
Hereditary Methemoglobinemia	Cerebellar atrophy, Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Hsd10 Disease, Infantile Type	Cyanosis, Cardiomegaly, Increased CSF lactate, Hypertrophic cardiomyopathy, Abnormal concentratio...	ORPHA:391428
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal s...	OMIM:302960
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus	OMIM:236660
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Polyhydramnios, Rectal prolapse, Short metatarsal, Deeply set eye, High palate, ...	OMIM:617157
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Hypertelorism, Patent ductus arteriosus, Bilateral cleft li...	ORPHA:2001
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Pedal edema, Abnorma...	ORPHA:980
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Respiratory failure requiring assisted ventilation, Di...	ORPHA:254519
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Abnormal cerebellum morpho...	ORPHA:2356
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, Ventral shortening of foreskin, Cle...	ORPHA:95706
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P...	ORPHA:264580
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Macrotia, Cardiomegaly	OMIM:300886
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Diastema, Deep ...	OMIM:605282
Spastic Paraplegia 16, X-Linked	Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Urinary bladder sphincter dysfu...	OMIM:300266
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypertelorism, Patent ductus arteriosus,...	ORPHA:2095
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Yuan-Harel-Lupski Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Bicuspid aortic valve, Ventricular septal def...	OMIM:616652
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Arachnodactyly, Dental crowding, Deeply set eye,...	ORPHA:397695
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Anteriorl...	OMIM:276820
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercl...	OMIM:619122
Joubert Syndrome 35	Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Recurrent urinary tract infections, S...	OMIM:618161
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Broad hallux, Splenomegaly, Hydrocephalus, Hypoplastic vertebra...	OMIM:272200
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Cleft ...	OMIM:200610
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata...	OMIM:617137
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly	OMIM:149000
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Optic nerve hypoplasia, Tracheomalacia, Hypertelorism, Hy...	OMIM:620155
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal rib morphology, Anteriorly placed anus, Anterior hypopituitarism, Et...	ORPHA:280195
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Aspiration pneumonia, Conductive hearing impairment, Thickened...	ORPHA:581
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Skin Creases, Congenital Symmetric Circumferential, 2	Uplifted earlobe, Micrognathia, Ureterocele, Short palm, Clinodactyly of the 5th finger, Microdon...	OMIM:616734
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ...	ORPHA:2273
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Upper limb peromelia, Hypoplasia of the maxilla, Downtur...	ORPHA:1299
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, ...	ORPHA:2736
Methylcobalamin Deficiency Type Cble	Syndactyly, Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Abnormality of the liver, H...	ORPHA:2169
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Absent thu...	OMIM:227645
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Car...	OMIM:256550
Semilobar Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hydrocephalus, Sensorineural he...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hydrocephalus, Sensorineural he...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hydrocephalus, Sensorineural he...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Median cleft lip, Abnormal pattern of respiration, Hydrocephalus, Sensorineural he...	ORPHA:93924
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Multiple joint contractures, Lymphedema, Intracranial hemorrha...	ORPHA:79318
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Crimean-Congo Hemorrhagic Fever	Stiff neck, Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocyt...	ORPHA:99827
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Hypotelorism...	OMIM:616395
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Ana...	OMIM:619318
Leopard Syndrome 1	Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor...	OMIM:151100
Culler-Jones Syndrome	Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Hypotelorism, Micropenis	OMIM:615849
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Joubert Syndrome 23	Apnea, Dysplastic corpus callosum, Sensorineural hearing impairment, Tachypnea, Polydactyly, Cere...	OMIM:616490
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Ventricular septal defect, Hypoplasi...	ORPHA:96129
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Small scrotum, Abnormal rib morphology, Hypogonadism, Abnormality of the hum...	ORPHA:2234
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pu...	ORPHA:800
Atelis Syndrome 2	Single transverse palmar crease, Micrognathia, Diastema, Thrombocytopenia, Patent ductus arterios...	OMIM:620185
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol...	ORPHA:449400
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Optic disc pallor, Broad hallux, Optic atrophy, Deeply set eye, Broad thumb	OMIM:614388
Cole-Carpenter Syndrome 2	Microretrognathia, Pectus excavatum, Hydrocephalus, Thin ribs, High palate, Narrow iliac wing, De...	OMIM:616294
Pearson Syndrome	Hydrops fetalis, Renal cyst, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosi...	ORPHA:699
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Senso...	OMIM:194350
Bardet-Biedl Syndrome 3	External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,...	ORPHA:90291
Isolated Exencephaly	Abnormal facial skeleton morphology, Proptosis, Holoprosencephaly, Low-set ears, Aplasia/Hypoplas...	ORPHA:563612
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ...	OMIM:608940
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Immotile cilia, Respi...	OMIM:614874
Axenfeld-Rieger Syndrome	Anal stenosis, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Aplasia/...	ORPHA:782
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholecystitis, Broad ribs, Broad metacarpals, Hepatomegaly, Tapered finger, Precocious puberty, C...	OMIM:301066
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Webb-Dattani Syndrome	Neurogenic bladder, Cryptorchidism, Deep philtrum, Hip dislocation, Deeply set eye, Hyposthenuria...	OMIM:615926
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Neonatal respiratory distress, Hypertelorism, Metaphyseal widening, Squared iliac ...	OMIM:618961
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo...	ORPHA:2879
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasi...	OMIM:619841
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Optic atrophy, Wide nasal bridge, Protruding ear, Pleural effusi...	ORPHA:2526
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h...	OMIM:602782
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Deeply set eye	OMIM:614254
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Protruding ear, Deep...	OMIM:619475
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Overtubulated long bones, Short metacarpal, P...	OMIM:618150
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Patent ductus arte...	ORPHA:1556
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect, Tapered finger, Hypoplasia of the maxilla, Incr...	OMIM:609460
Joubert Syndrome 4	Renal insufficiency, Cerebellar vermis hypoplasia, Abnormal renal medulla morphology, Stage 5 chr...	OMIM:609583
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome...	ORPHA:1775
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Hypertelorism...	OMIM:616503
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Hypotonia, Ataxia, And Delayed Development Syndrome	Thin upper lip vermilion, Small earlobe, Posteriorly rotated ears, Tapered finger, Hypertelorism,...	OMIM:617330
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Craniosynostosis, Micrognathia, Carious teeth, Hypertelorism, ...	ORPHA:3132
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatome...	ORPHA:171
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai...	OMIM:615219
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, L...	ORPHA:1942
Mowat-Wilson Syndrome	Uplifted earlobe, Deeply set eye, Widely spaced teeth, Atrial septal defect, Hypospadias, Pulmona...	OMIM:235730
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi...	ORPHA:60015
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Predominantly lower limb lymphed...	ORPHA:33001
Desmosterolosis	Rhizomelia, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Partial agenesis of the corpus...	OMIM:602398
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, ...	OMIM:601539
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral ...	ORPHA:488642
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Optic atrophy, Deeply set eye, Oligodontia, Hypodontia, Autonomic blad...	ORPHA:447896
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Hypertelorism, Micrognathia, Long fingers, Cleft palate, High palate, L...	OMIM:156610
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Chiari type I malf...	OMIM:218040
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Pectus excavatum, Pectus carinatum, ...	OMIM:300676
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Mic...	ORPHA:2250
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Cyanosis, Sudden...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Cyanosis, Sudden...	ORPHA:590
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degener...	ORPHA:77299
Congenital Diaphragmatic Hernia	Prominent sternum, Pulmonary hypoplasia, Intestinal malrotation	ORPHA:2140
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger,...	ORPHA:2604
Rabson-Mendenhall Syndrome	Mandibular prognathia, Atrial septal defect, Enlarged ovaries, Dental crowding, Ventricular septa...	ORPHA:769
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o...	ORPHA:79230
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Splenomegaly, Thick lower lip v...	ORPHA:583
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Scarring, Poor wound healing, Hepatocellular carc...	ORPHA:101330
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Edema, Renal cyst, Dehydration, Gastrointest...	ORPHA:79404
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Wide anterio...	OMIM:225410
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Ging...	ORPHA:286
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf...	OMIM:618805
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Microtia, third degree, Aplastic z...	OMIM:200110
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenes...	ORPHA:2003
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Micrognathia, Intrahepatic c...	OMIM:607330
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Hepatomegaly, Hypertelorism, Renal cyst, Epiphyseal stippling, Respiratory failure	OMIM:614862
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Spatulate ribs, Broad clavicles, Diastema, Open bite, Nephrolithiasi...	OMIM:619698
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa v...	OMIM:601370
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os...	OMIM:271640
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Lateral clavicle hook, Thick lower lip v...	OMIM:613804
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Rhizomelia, Mi...	OMIM:613848
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab...	ORPHA:1488
Monosomy 22Q13.3	Renal dysplasia, Dental crowding, Palpebral edema, Lymphedema, Dental malocclusion, Vesicouretera...	ORPHA:48652
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Cerebellar atrophy, Renal insufficiency, Pneumothorax, Renal cyst,...	ORPHA:445038
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of corpus callosum, Cleft palate, Cleft upper lip	OMIM:614402
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Secundum atrial septal defect, Wide mouth, Prominent antihelix, Dee...	OMIM:615802
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow ...	OMIM:615777
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Liss...	OMIM:614833
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, Micrognathia, Hig...	ORPHA:2108
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, High palate, Atrial septal defect, Bilateral coxa val...	OMIM:615582
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Wide anterio...	ORPHA:85184
Orofaciodigital Syndrome Xvi	Inguinal hernia, Apnea, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:617563
Neuroocular Syndrome	Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Deeply set e...	OMIM:619539
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Micrognathia, Splenomegaly, Hydrocephalus, Flared metaphysis, Gingival overgrowth, ...	OMIM:259720
Nasu-Hakola Disease	Hydrocephalus, Abnormal adipose tissue morphology, Abnormal epiphysis morphology, Ventriculomegaly	ORPHA:2770
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Hypopla...	OMIM:620099
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr...	OMIM:617093
Dubowitz Syndrome	Aplastic anemia, Single transverse palmar crease, Micrognathia, Protruding ear, Hypoplasia of the...	OMIM:223370
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Clubbing, Multiple gastric polyps, Or...	OMIM:175200
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia	ORPHA:35125
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Large tarsal bones, Micrognathia, Sensorineural h...	OMIM:215150
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Crumpled long bones, Bowing of the long b...	ORPHA:2050
Toriello-Carey Syndrome	Micrognathia, Partial agenesis of the corpus callosum, Anotia, High palate, Thickened helices, Ap...	ORPHA:3338
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Open bite, Splenomegaly, ...	ORPHA:2969
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, E...	ORPHA:3107
Developmental And Epileptic Encephalopathy 1	Dyspnea, Microphthalmia, Micropenis, Ventriculomegaly	OMIM:308350
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Protr...	ORPHA:627
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Long nose, Abnormal finger morphology, Short palm, Large il...	ORPHA:2636
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia ...	OMIM:258480
Joubert Syndrome 27	Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly	OMIM:617120
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Posteriorly rotated ears, Rocker bottom foot, Single transverse palma...	OMIM:617527
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxi...	ORPHA:920
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Tracheomalacia, Protruding tongue, Gingival overgrowth, Wide mouth, Deeply set eye, Low-set ears,...	OMIM:618797
Nanophthalmos	Microphthalmia	ORPHA:35612
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Bangstad Syndrome	Abnormality of the dentition, Polycystic ovaries, Deviation of finger, Deeply set eye, Abnormal t...	ORPHA:1227
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Absent/hypoplastic paranasal sinuses, Angiokerato...	OMIM:230000
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Thin ribs, Pectus...	OMIM:612921
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspn...	ORPHA:444013
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Trichothiodystrophy	Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus callosum, Hypote...	ORPHA:33364
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip, Low-set ears	OMIM:616994
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Tapered finger, Hypoplasia of the pon...	OMIM:616202
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Microp...	ORPHA:79324
Xylt1-Cdg	Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion borde...	ORPHA:370930
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p...	ORPHA:124
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Neutropenia, Vesicoureteral reflux, Micropenis, Paten...	ORPHA:163956
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Spatulate ribs, Gingival overgrowth, Hepatosplenomegaly, Pectus car...	ORPHA:79255
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermi...	OMIM:152950
Congenital Myopathy 8	Reduced vital capacity, High palate, Respiratory insufficiency, Cardiomegaly	OMIM:618654
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg...	OMIM:615287
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo...	OMIM:241310
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Simplified gyral pattern, Microlissencephaly, Ureteral ...	OMIM:617914
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd...	OMIM:259710
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ...	OMIM:601005
Hypophosphatasia	Bowing of the long bones, Abnormality of the dentition, Emphysema, Abnormal rib morphology, Narro...	ORPHA:436
Frontonasal Dysplasia 3	Posteriorly rotated ears, Hypertelorism, Wide nasal bridge, Cleft palate, Low-set ears, Microphth...	OMIM:613456
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Wolcott-Rallison Syndrome	Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Renal insufficiency, Elevated hepatic...	ORPHA:1667
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Hypertelorism, Horseshoe kidney, Microtia, Atresia of the external auditor...	ORPHA:2213
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh...	OMIM:611717
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Abnormal femur morphology, ...	ORPHA:3130
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension	ORPHA:79319
Aspergillosis	Sinusitis, Pneumonia, Abnormality of the kidney, Hypersensitivity pneumonitis, Abnormal rib morph...	ORPHA:1163
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Cardiomegaly, Abnormal thumb morphology, Protruding tongue, Abnormal atrio...	ORPHA:324410
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin...	OMIM:114300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog...	ORPHA:254534
Microphthalmia, Isolated 5	Microphthalmia, Optic disc pallor, Cystoid macular edema, Optic disc drusen	OMIM:611040
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Splenomegaly, Hydrocephalus, Sensorineural hearing impairment...	ORPHA:585
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin...	OMIM:135150
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Protruding ear, Hip dysplasia, Extra-axial cerebrospinal...	OMIM:618798
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentra...	OMIM:261680
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of...	OMIM:605130
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular...	OMIM:620135
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Deeply set eye, Hip dislocation	OMIM:619059
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteo...	OMIM:615085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Neoplas...	ORPHA:2241
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Hypertelorism, Sensorineural hearing impairment, Deeply set eye, Low-set ears,...	ORPHA:423479
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypertelorism, Carious teeth, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Abnormal r...	ORPHA:93346
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Patent ductus arterio...	OMIM:617397
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Microphthalmia, Syndromic 13	Anteverted ears, Microphthalmia, Widely-spaced incisors	OMIM:300915
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Ab...	ORPHA:249
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Cyanosis, Apnea, Protruding tongue, Extra-axial cerebrospinal fluid accumulat...	OMIM:619580
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg...	ORPHA:1517
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Palmoplantar hype...	OMIM:615109
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericar...	ORPHA:358
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Urinary incontinence, Abnormal finger morp...	ORPHA:404448
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Lobulated tongue, ...	ORPHA:434179
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Postaxial foot polydactyly, Hydronephr...	OMIM:615989
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Short p...	OMIM:608612
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Palmoplantar hype...	OMIM:615108
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypertelorism, Cleft palate, Tooth agenesis, High palate, Microphthalmia	ORPHA:1135
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Abnormality of the philtrum, Arachnodactyly, Aplasia/Hypoplasia...	ORPHA:2759
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Patent ductus arteriosus, Retrognathia, Vesicoureteral reflux, Dou...	OMIM:619869
Holoprosencephaly 1	Median cleft lip and palate, Alobar holoprosencephaly, Hypotelorism, Micropenis, Cerebellar hypop...	OMIM:236100
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Deeply set eye, Polyhydramnios	ORPHA:521390
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Tapered finger, Cryptorchidism, Abnormal heart morphology, Short finger, Acrocyanosis,...	ORPHA:1867
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Protruding tongue, Hypertelorism, Cryptorchidism, Conot...	ORPHA:96147
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Tented upper lip vermilion, Dysplastic corpus callosum, Hydrocephal...	OMIM:617281
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F...	OMIM:250420
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Cerebellar atrophy, Hypospadias, ...	OMIM:252010
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol...	ORPHA:99931
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Smooth philtr...	OMIM:618737
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Premature graying of hair, Hepatic fibrosis, Portal hypertension, Retinal telangiectasia	OMIM:617341
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Hypoplasia of the gallbladder, Hypospadias, Micro...	ORPHA:96176
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Femur fracture, Carious teeth, Splenomegaly, Hydrocephalus, Flared metaphysis, Coxa...	OMIM:259700
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Micrognathia, Hypertelorism, Optic atrophy, Deeply set eye, Retractile test...	OMIM:617193
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Hydroc...	OMIM:309801
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Hypertelorism, High, narrow palate, ...	OMIM:619575
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ...	ORPHA:73224
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Cardiomegaly, Hypertelorism, Th...	ORPHA:2463
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal p...	ORPHA:183
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Mandibular prognathia, Multicystic kidney dysplasia, Renal insuffi...	ORPHA:93111
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, Atrial septal defect,...	OMIM:147920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Respiratory failure, Microphthalmia, Po...	OMIM:616538
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, X...	ORPHA:227990
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Posteriorly rotated ears, Micrognathia, Congenital sensorineural ...	OMIM:617306
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide mouth, Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Hearing impairment, Hydrocephalus, Abnormal brainstem morphology, High palate, Ab...	ORPHA:2720
Pontine Tegmental Cap Dysplasia	Rib fusion	OMIM:614688
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Abnormal rib morphology, Spina bifida occulta, Short foot, Micropenis, Retrognathia, ...	ORPHA:488434
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hip dysplasia, Hypogonadism, Micropenis, D...	ORPHA:500055
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormal pinna morphology, Abnormality of the dentition, Cleft upper lip, Ectodermal dysplasia, A...	OMIM:273400
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ...	ORPHA:439
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars...	ORPHA:85199
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Defo...	ORPHA:2975
Mosaic Trisomy 20	Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, Micrognathia, Cleft...	ORPHA:1724
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe...	OMIM:190351
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Edema, Polyhyd...	OMIM:616038
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Optic atrophy, Deeply set eye, P...	OMIM:610965
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cholestasis, C...	OMIM:615895
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Proptosis, Hypertelorism	OMIM:612247
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma...	ORPHA:247585
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Hypertelorism, Large ear...	ORPHA:1236
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Hypertelorism, Deeply set eye, Smooth philtrum	OMIM:612242
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Posteriorly rotated ears, Renal duplication, Microg...	OMIM:613309
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, X...	ORPHA:227982
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Tuberous Sclerosis 1	Dental enamel pits, Precocious puberty, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, R...	OMIM:191100
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Adducted thumb	ORPHA:275543
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Narrow chest, Bil...	OMIM:618268
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr...	OMIM:212140
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus	ORPHA:73256
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Oligodontia, Widely spac...	OMIM:601216
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebellar hypoplasia	OMIM:251270
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Di...	OMIM:603736
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia	ORPHA:93950
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Tenorio Syndrome	Mandibular prognathia, Hydrocephalus, Recurrent pneumonia, Wide mouth, Macroglossia, Enuresis, Re...	OMIM:616260
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Posteriorly ...	ORPHA:1427
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Frontofacionasal Dysplasia	Cleft upper lip, Hypertelorism, Orofacial cleft, Cranium bifidum occultum, Malar flattening, Shor...	OMIM:229400
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Deeply set eye, Cere...	ORPHA:97685
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t...	OMIM:123500
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Pectus excavatum, Palmoplantar hype...	OMIM:158350
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Bladder Exstrophy	Omphalocele, Hypoplasia of penis, Recurrent urinary tract infections, Inguinal hernia, Epispadias...	ORPHA:93930
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypertelorism, Carious teeth, Hypoplasia of the maxilla, High iliac wi...	ORPHA:50814
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyl...	ORPHA:158687
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Hypertelorism, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Renal Hypoplasia, Bilateral	Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguri...	ORPHA:97362
Distal Deletion 3P	Low-set, posteriorly rotated ears, Micrognathia, Hypertelorism, Cryptorchidism, Postaxial hand po...	ORPHA:1620
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cutaneous photosensitivity	OMIM:278780
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ambiguous genitalia, Clitoral hypertrophy, ...	OMIM:264270
Pulmonary Arteriovenous Malformation	Liver abscess, Cyanosis, Epistaxis, Cough, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural ...	ORPHA:2038
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio...	OMIM:610682
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Oligosacchariduria, Cortical thickening of lo...	ORPHA:309282
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Proteinuria, Postaxial polydactyly, Bilateral cryptor...	OMIM:619471
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Micrognathia, Abnormal tibia morphology, High palate, Atrial septal defect, Abnormal d...	ORPHA:363700
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cerebellar calcifications, Splenomegaly, Erythema, C...	OMIM:225750
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex rever...	OMIM:154230
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Recurrent upper respiratory tract infections, Gi...	OMIM:217090
Nephronophthisis 11	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft	OMIM:617542
Frontonasal Dysplasia 2	Encephalocele, Craniosynostosis, Conical tooth, Hypertelorism, Bilateral cryptorchidism, Wide nas...	OMIM:613451
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Palmoplantar hyperkeratosis, High palate, Short philtrum, Macrovesicular hepatic st...	OMIM:619127
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis	OMIM:615599
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microcytic anemia, Hypertelorism, Optic atrophy, Low-set ears, Dys...	OMIM:612379
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Polyhydramnios, Hypertelorism, Cleft palate	ORPHA:3374
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Joubert Syndrome 33	Splenomegaly, Syndactyly, Apnea, Molar tooth sign on MRI	OMIM:617767
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairme...	ORPHA:18
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Pulmonary hypoplasia	OMIM:267430
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Refsum Disease, Classic	Short fourth metatarsal, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Increase...	OMIM:266500
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Death in infancy, Femur fracture, Splenomegaly, Hydrocephalus, Recurrent pneumonia,...	OMIM:612301
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula, Hypertelorism	OMIM:155145
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Oligodontia, C...	OMIM:601701
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Palmoplantar hyperkeratosis, Hepatic fibrosis, Pulmonary fibrosis, Microdontia, Or...	OMIM:224230
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Spina bifida, Tapered finger, Cyst of the ductus choledochus, Patent duc...	OMIM:619480
Alexander Disease Type I	Cerebellar atrophy, Hydrocephalus	ORPHA:363717
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Dilated cardiomyopathy,...	ORPHA:398124
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Increased...	ORPHA:558
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Polyd...	ORPHA:137914
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Ectopic kidney, High palate, Short philtrum, Thickened he...	ORPHA:3063
Hemangioblastoma	Cerebellar edema, Hydrocephalus, Neurogenic bladder, Cerebellar hemangioblastoma	ORPHA:252054
Nance-Horan Syndrome	Diastema, Macrotia, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia...	OMIM:302350
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Telangiectasia, Azoosper...	OMIM:235200
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Hypospadias, Submucous cleft hard palate, Flexion contracture, Deeply set eye, Aortic root aneury...	OMIM:618891
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Generalized joint laxity, Protruding ear, High palate, Atrial septal defect, Abnormal duodenum mo...	OMIM:601776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Bifid uvula, Disl...	OMIM:130070
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Hearing impairment, Preaxial hand polydactyly, Short thumb, H...	ORPHA:2307
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ...	ORPHA:740
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal m...	OMIM:619351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Type II lissence...	OMIM:613154
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol...	ORPHA:2673
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Joint stiffness, Mediastinal lymphadenopathy, Vertigo, Vasculi...	ORPHA:397
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia, Micromelia	ORPHA:291
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Hydrocephalus, H...	OMIM:613603
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Atrial ...	OMIM:250220
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ...	ORPHA:580
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Sudden episodic apn...	ORPHA:159
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Splenomegaly, Jaundice, Dyspnea, Nasal fl...	ORPHA:90051
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hydrocephalus	OMIM:601794
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Abnormal thorax morphology, Patent ductus arteriosus, Anomalous pulm...	ORPHA:2184
Faundes-Banka Syndrome	Thin upper lip vermilion, Fetal ascites, Micrognathia, Hypertelorism, Cryptorchidism, Cupped ear,...	OMIM:619376
Nasopalpebral Lipoma-Coloboma Syndrome	Hypertelorism, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Bilateral mic...	ORPHA:2399
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Hypertelorism, Cleft lip, Patent ductus arteriosus, Cupped ear, Overfolded...	OMIM:618223
Kniest Dysplasia	Enlarged epiphyses, Aplasia/Hypoplasia of the lens, Abnormality of the epiphysis of the femoral h...	ORPHA:485
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Bone marrow hypocellularity	OMIM:609054
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Dental crowding, Joint hypermobility, Hiatus hernia, Micrognathia, Ve...	OMIM:619329
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Abnormal rib morphology, Cleft palate, Spre...	OMIM:118100
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge...	OMIM:119500
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Isolated Anencephaly	Omphalocele, Cleft lip, Congenital diaphragmatic hernia	ORPHA:563609
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Jaundice, Macroglossia, Deeply set eye, Prolonged neonatal jaundice, Malar flattening, Short nose	OMIM:613038
Mogs-Cdg	Respiratory distress, Hepatomegaly, Absent brainstem auditory responses, Hypoventilation, Apnea, ...	ORPHA:79330
Johanson-Blizzard Syndrome	Single transverse palmar crease, Downturned corners of mouth, Hepatic fibrosis, Death in childhoo...	OMIM:243800
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Hypertelorism, Supernumerary tooth, Abnormality of t...	ORPHA:314621
Faciocardiorenal Syndrome	Hypertelorism, Narrow mouth, Wide nasal bridge, Cleft palate, Horseshoe kidney, Protruding ear, H...	ORPHA:1973
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, De...	OMIM:105830
Griscelli Syndrome	Encephalocele, Hepatomegaly, Splenomegaly, Hydrocephalus, Jaundice, Hepatitis, Premature graying ...	ORPHA:381
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla...	ORPHA:228396
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Respiratory failure, Hepatic fibrosis,...	ORPHA:14
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Joint l...	ORPHA:284984
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Widely spaced teeth, High palate,...	OMIM:209885
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Macrotia, Optic atrophy, Hypoplasia of teeth, Microphthalmia, Short no...	OMIM:234050
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Micrognathia, Short ...	OMIM:216340
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Cleft palate, Femora...	OMIM:616462
Hereditary Sensory And Autonomic Neuropathy Type 5	Abnormality of the dentition, Abnormality of the gingiva, Painless fractures due to injury, Deepl...	ORPHA:64752
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli...	OMIM:616229
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect	OMIM:617364
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Peri...	ORPHA:722
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Hypertelorism, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Developmental And Epileptic Encephalopathy 2	Tapered finger, Thick lower lip vermilion, Small hand, Short foot, Deeply set eye, Gastroesophage...	OMIM:300672
Colonic Atresia	Omphalocele, Abnormal mesentery morphology, Abdominal situs inversus, Gastroschisis	ORPHA:1198
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Thrombocytopenia, Splenomegaly, Trismus, Gastroesophageal reflu...	OMIM:230900
Fucosidosis	Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the dentition, Abnormality of the gallbla...	ORPHA:349
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R...	ORPHA:2973
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Hepatitis, Hypoplasia ...	ORPHA:436252
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, Proximal renal tubular a...	OMIM:615824
Sialuria	Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, High, narrow palate, 2-3 t...	ORPHA:3166
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Communicating hydrocephalus, Unilateral renal agenesis, Micrognathia	ORPHA:1064
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypospadias, Abnormal pinna morphology, Absent tragus, Hypertelorism,...	OMIM:603457
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia	ORPHA:1237
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead...	ORPHA:89936
Xeroderma Pigmentosum, Complementation Group F	Deeply set eye, Flexion contracture, Hearing impairment	OMIM:278760
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal...	ORPHA:99106
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Abnormal stomach morphology...	ORPHA:141127
Developmental And Epileptic Encephalopathy 84	Large earlobe, Thick lower lip vermilion, Deeply set eye, Smooth philtrum	OMIM:618792
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Hypertelorism, Protruding tongue, ...	ORPHA:2268
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure, Limb undergrowth...	ORPHA:1861
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Aceruloplasminemia	Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Abnormal dentate nucleus morphology, E...	ORPHA:48818
Breath-Holding Spells	Cyanosis	OMIM:607578
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala...	OMIM:613795
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp...	OMIM:252600
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Hearing impairment	OMIM:245200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Pulmonary arterial hypertension, Hy...	OMIM:619051
Melanosis, Neurocutaneous	Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Lipodystrophy, Abnormal cerebellum m...	ORPHA:86309
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract...	ORPHA:79301
Legius Syndrome	Non-small cell lung carcinoma, Nephrolithiasis, Ovarian neoplasm, Diaphyseal dysplasia, Mitral va...	ORPHA:137605
Optic Pathway Glioma	Hydrocephalus, Proptosis	ORPHA:2086
Manitoba Oculotrichoanal Syndrome	Omphalocele, Microphthalmia, Anophthalmia, Hypertelorism	OMIM:248450
Whipple Disease	Hepatomegaly, Pericarditis, Splenomegaly, Hydrocephalus, Myocarditis, Respiratory insufficiency, ...	ORPHA:3452
Mednik Syndrome	Death in infancy, Sensorineural hearing impairment, Erythema, Cholestasis, Hepatic fibrosis, Cirr...	OMIM:609313
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Hypertelorism, C...	ORPHA:3427
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearin...	OMIM:618733
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Renal salt wasting, Hypersplenism,...	ORPHA:275761
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Cutis marmorata, Hypertelorism, Cardiomeg...	ORPHA:91387
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr...	ORPHA:1896
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced teeth, Atrial s...	OMIM:300967
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cerebellar atrophy, Cholangitis, Microvesicular hepatic steatosis,...	OMIM:124000
Alström Syndrome	Respiratory distress, Abnormality of dental color, Urinary incontinence, Functional abnormality o...	ORPHA:64
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp...	ORPHA:186
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormality of taste sensation, Abnormal medulla oblongata morphology, Sinus...	ORPHA:68
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Knee flexion contractur...	OMIM:259050
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut...	ORPHA:281090
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom...	ORPHA:99880
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology...	ORPHA:2908
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Coarctati...	OMIM:618164
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg...	ORPHA:308552
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence...	ORPHA:83463
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Cholera	Abnormality of renal excretion, Achlorhydria, Dehydration, Deeply set eye, Stroke, Palmoplantar c...	ORPHA:173
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Acromesomelic Dysplasia 4	Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R...	OMIM:619636
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dental crowding, Polyhydramnios, Optic nerve dysplasia, Deeply set eye, Short philtrum	OMIM:617296
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Holoprosencephaly 4	Hypotelorism, Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly	OMIM:142946
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom...	ORPHA:143
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy	ORPHA:300751
Gaucher Disease	Hepatomegaly, Death in infancy, Abnormal pericardium morphology, Hepatitis, Respiratory insuffici...	ORPHA:355
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Short femur, Limited elbow movement, Micrognathia, Upper limb undergrowth, F...	ORPHA:94068
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Thrombocytopenia, Deep philtrum, No...	ORPHA:647
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys...	ORPHA:2357
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, Lymphedema, High, narrow palate, High palate, Atr...	OMIM:163950
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Abnormal digit morphology, Polydactyly, Holoprosen...	ORPHA:95494
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Abnormality of the...	ORPHA:85276
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Abnormal pinna morphology, Hypertelorism, Hydrocephalus, Hypoplasia of the iris, Severe sensorine...	OMIM:614195
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Micro...	OMIM:143095
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Adipose tissue loss, Flexion contracture, Premature graying of hair, Loss of facial...	OMIM:256040
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Micrognathia, Hydrocephalus, Proptosis, Shallow orbits, Microdontia,...	OMIM:112240
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl...	OMIM:612731
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Apnea, Cardiomegaly, Respiratory insufficiency, Cerebellar hypopla...	OMIM:618886
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Broad hallux, Arachnodactyly, Homocystinuria, Dental malocclusion, High palate, Sho...	OMIM:601552
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Gingival fibromatosis, Ren...	OMIM:613254
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt...	ORPHA:79282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hypoventilation, Cyanosis, Abnormal midbrain morphology, Central h...	ORPHA:293987
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Hypospadias, Optic nerve hypoplasia, Micrognathia, Hypoplasia of th...	ORPHA:495875
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Abnormal tricuspid valve morphology, Abnormal dental morphology, Temporomandibula...	ORPHA:217085
Neurofibromatosis, Type I	Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu v...	OMIM:162200
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory d...	ORPHA:31826
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Hydrocephalus, Pericarditis	ORPHA:163596
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus	OMIM:150260
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper res...	OMIM:252920
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, Hepat...	OMIM:207900
Pelizaeus-Merzbacher Disease In Female Carriers	Deeply set eye, Neurogenic bladder, Abnormality of the lower urinary tract, Hypertelorism	ORPHA:280229
Ovarian Fibroma	Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif...	ORPHA:314473
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Cerebellar atrophy, Mandibular prognathia, Arachnodactyly, Posterior...	OMIM:617011
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto...	ORPHA:1414
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Burkitt Lymphoma	Intestinal obstruction, Abnormality of the pancreas, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Abnormal tricuspid valve morphology, Abnormal dental morphology, Temporomandibula...	ORPHA:217093
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect, Cleft palate, Micrognathia	OMIM:243440
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Japanese Encephalitis	Respiratory distress, Irregular respiration, Abnormal substantia nigra morphology, Abnormal midbr...	ORPHA:79139
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Joint laxity, Craniosynostosis, Uplifted earlobe, Micrognathia, Hypertelorism, Protruding ear, De...	ORPHA:412069
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Aplastic clavicle, Missing ribs, Carious teeth, Abnormal zygomatic bone mo...	ORPHA:2769
Leber Congenital Amaurosis 8	Deeply set eye	OMIM:613835
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Portal hypertens...	ORPHA:465508
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Bro...	OMIM:615222
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Thickened helices, Microphthalmia, Mac...	ORPHA:2714
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met...	OMIM:277400
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Macrotia, Flexion contracture, Protruding ear, Microphthal...	OMIM:601675
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Urinary in...	ORPHA:206448
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Short phal...	OMIM:600383
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency, Cyanosis	OMIM:610773
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephroli...	ORPHA:416
Gonadoblastoma	Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g...	ORPHA:206484
Split Cord Malformation	Abnormal thoracic spine morphology, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrus...	ORPHA:573278
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Micrognathi...	ORPHA:96191
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Protruding ear, High palate, Hypoplastic iliac wing, Small earlobe, Gen...	ORPHA:93315
Lhermitte-Duclos Disease	Hydrocephalus, Macroglossia, Hand polydactyly, Polymicrogyria, Enlarged cerebellum	ORPHA:65285
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Type II lissencephaly, Micrognathia, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Hypopl...	OMIM:253280
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity, Acrocyanosis, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment	ORPHA:137817
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Bruising susceptibi...	OMIM:619484
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Communicating hydrocephalus, Arachnodactyly, Asymmetry of the thorax, High...	ORPHA:457359
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capitate-hamate fusion, Broad cl...	OMIM:304150
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Short femoral neck...	OMIM:618019
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophi...	ORPHA:848
Geleophysic Dysplasia 1	Short palm, Hepatomegaly, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valg...	OMIM:231050
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con...	OMIM:614188
Eisenmenger Syndrome	Respiratory distress, Hepatomegaly, Renal insufficiency, Cyanosis, Ventricular septal defect, Inc...	ORPHA:97214
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Delayed eruption of primary teeth, Gastrointestinal dysmotility, Deeply set eye,...	OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 38	Tented upper lip vermilion, Downturned corners of mouth, Deeply set eye, Everted lower lip vermil...	OMIM:616393
Microtia-Anotia	Microtia, Anotia, Holoprosencephaly	OMIM:600674
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Micrognathia, Deeply set eye, Hammertoe, Adenocarcinoma of the colon	OMIM:620189
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Elevated urinary catecholamine level, Pancreatic islet cel...	ORPHA:892
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Deeply set eye	OMIM:305390
Spondyloepimetaphyseal Dysplasia, Shohat Type	Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, F...	ORPHA:93352
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag...	ORPHA:93941
Deafness, X-Linked 7	Posteriorly rotated ears, Unilateral microphthalmos, Wide nasal bridge, Atresia of the external a...	OMIM:301018
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, High palate, Agenesis of corpus ca...	ORPHA:58
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Osteopenia, Vertigo, Osteoporosis	ORPHA:91347
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasi...	OMIM:618278
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag...	ORPHA:3016
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus	ORPHA:31
Cerebrotendinous Xanthomatosis	Abnormality of the hand, Myelopathy, Abnormal tibia morphology, Abnormal lung morphology, Abnorma...	ORPHA:909
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Papilledema, Stenosis of the medullary cavity of the long bones, Persi...	ORPHA:93325
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Incisional hernia, Shoulder dislocation, Ecchymosis, ...	ORPHA:287
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae	OMIM:602473
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Cryptorchidism, ...	OMIM:309000
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi...	ORPHA:261265
Microsporidiosis	Sinusitis, Cholangitis, Bronchitis, Pneumonia, Abnormality of the spleen, Abnormality of the para...	ORPHA:2552
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Metaphyseal wid...	ORPHA:99646
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Pectus ex...	ORPHA:2785
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri...	ORPHA:552
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Dural Sinus Malformation	Pulsatile tinnitus, Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Proptosis	ORPHA:97339
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria	OMIM:232800
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth	OMIM:137550
Microphthalmia, Isolated, With Coloboma 9	Hypertelorism, Low-set ears, Long philtrum, Microphthalmia, Macrotia	OMIM:615145
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Hearing impairment, Cardiomegaly, Sensorineural hearing impairment, Cardiom...	OMIM:105210
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Elevated circulating aspar...	OMIM:277900
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Death in infancy, Respiratory distress, Cyanosis, Apnea, Neonatal respiratory...	OMIM:618426
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy, Endocardial fibroelastosis	OMIM:600559
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Meningo...	OMIM:600145
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Hypotelorism, Deeply set eye, Thrombocytopenia	OMIM:616937
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Familial Exudative Vitreoretinopathy	Lymphedema, Macular edema, Reduced bone mineral density, Abnormal optic disc morphology, Micropht...	ORPHA:891
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Leukocytosis, Vas...	ORPHA:2331
Wrinkly Skin Syndrome	Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High palate, Mic...	OMIM:278250
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocy...	OMIM:300952
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Buerger Disease	Acrocyanosis	ORPHA:36258
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca...	ORPHA:2119
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment, Card...	OMIM:617713
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelect...	ORPHA:365
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency	ORPHA:3346
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Joubert Syndrome 28	Molar tooth sign on MRI, Hypertelorism	OMIM:617121
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Cyanosis, Hypospadias	OMIM:250790
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Pleural eff...	ORPHA:314478
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Elevated pulmonar...	ORPHA:57777
Joubert Syndrome 8	Occipital encephalocele, Hepatomegaly, Prolonged neonatal jaundice, Molar tooth sign on MRI, Hype...	OMIM:612291
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,...	OMIM:619268
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura	ORPHA:343
Chand Syndrome	Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abno...	ORPHA:1401
Norrie Disease	Aplasia/Hypoplasia of the lens, Venous insufficiency, Cryptorchidism, Sensorineural hearing impai...	ORPHA:649
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Splenomegaly, Nephrocalcinosis, Cardiomyopathy, Aminoaciduria	OMIM:616084
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Cutis marmorata, Lipoatrophy, Cardiom...	ORPHA:51
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Urinary incontinence, Cardiomegaly, Respiratory i...	OMIM:232300
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Tachypnea, Abnormal hea...	ORPHA:2041
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect	OMIM:619143
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal...	OMIM:154500
Rodrigues Blindness	Nasal flaring, Protruding ear, Ectodermal dysplasia, Microphthalmia, Tooth malposition	OMIM:268320
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Gcgr-Related Hyperglucagonemia	Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas	ORPHA:438274
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT...	OMIM:233450
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus, Aortic valve...	OMIM:231005
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad...	ORPHA:512
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Deeply set eye	ORPHA:3044
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Sensorineural hearing impairment, Dentinogenesis imperfecta, Asthma, Cone-shaped epiph...	OMIM:619269
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Progeroid facial appearance, Sensorineural hearing impairment, Microphthalmia...	OMIM:610651
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Medulloblastoma	Elevated hepatic transaminase, Cerebellar calcifications, Hydrocephalus, Neoplasm of the lung, Bi...	ORPHA:616
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad...	OMIM:193300
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Eosinophilia, Conical tooth, Leukocytosis, Op...	OMIM:308300
1P21.3 Microdeletion Syndrome	Micrognathia, Wide mouth, Deeply set eye, Long ear, Short nose, Joint hypermobility	ORPHA:293948
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Death in chil...	OMIM:268800
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Epistaxis, Hydrocephalus, Telangiectasia, Abnormal heart morphology, Chylotho...	ORPHA:137667
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic ...	OMIM:619259
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Hypogeusia, Decreased sensitivity to hypoxemia, Glomerula...	OMIM:223900
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Jaundice, Short thorax, Hepatosplenomegaly, Hypoglycorrhachia, Brach...	ORPHA:168577
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Familial Aortic Dissection	Cutis marmorata, Cardiomegaly, Patent ductus arteriosus, Paroxysmal dyspnea, Exertional dyspnea	ORPHA:229
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Deeply set eye, Hyperechogenic kidneys, Hypoplast...	OMIM:620047
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Peptic ulcer, Parathormone-independent increased renal tubular...	OMIM:600740
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Pectus excavatum, Hydrocephalus, Hypogonadism, Narrow ...	ORPHA:3042
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Cerebral Visual Impairment	Hydrocephalus, Optic nerve hypoplasia	ORPHA:447788
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic...	OMIM:605275
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Ventricular septal defect, Recurrent fractures, Metaphyseal widening, Phthisis bulbi,...	OMIM:259770
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo...	ORPHA:268810
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal...	ORPHA:3003
Postinfectious Vasculitis	Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Pneumonia, Glomerulonephr...	ORPHA:48435
Familial Dysautonomia	Abnormal peritoneum morphology, Recurrent respiratory infections, Renal insufficiency, Glomerulop...	ORPHA:1764
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Hypogonadism, Cho...	ORPHA:79095
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm...	ORPHA:500
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Homocystinuria, Apnea, Ventriculomegaly	ORPHA:395
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A...	ORPHA:99104
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Hearing impairment, Cryptorchidism, Hydrocephalus, Genu v...	ORPHA:636
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Hypertelorism, Hypoplasia of the maxilla, Sensorineural hearing impa...	OMIM:122880
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Hydrocephalus, Perit...	ORPHA:1546
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux, Ventriculomegaly	OMIM:120200
Myasthenia Gravis	Dyspnea, Hepatitis, Glycosuria, Acrocyanosis, Hearing impairment	ORPHA:589
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Protruding ear, Hearing impairment, Abnormality of the dentition	ORPHA:1806
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Increased CSF protein concentration	ORPHA:209956
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Subependymal nodules, Ven...	ORPHA:25
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Immunodeficiency 96	Recurrent otitis media, Increased proportion of gamma-delta T cells, Increased mean corpuscular v...	OMIM:619774
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism	ORPHA:363741
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Microphthalmia, Thickened cortex of long bones, Anem...	OMIM:127000
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Portal hypertension, Esophageal varix, Nephrolithiasis, Hematuria, Cholecys...	ORPHA:774
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,...	OMIM:209920
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abn...	ORPHA:268943
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus	OMIM:620343
Eosinophilic Fasciitis	Fasciitis, Acrocyanosis, Cellulitis	ORPHA:3165
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Aprosencephaly And Cerebellar Dysgenesis	Micrognathia, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Absent mesencepha...	OMIM:601374
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypospadias, Hypoplasia of the maxilla, ...	OMIM:180500
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism, Hydrocephalus, Gingival overgrowth, Chiari malfo...	ORPHA:3205
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Vitreoretinochoroidopathy	Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion	OMIM:193220
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Deeply set eye, L...	ORPHA:314647
Porphyria, Congenital Erythropoietic	Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Joint contracture...	OMIM:263700
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Low-set ears, Microphthal...	OMIM:612109
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar...	OMIM:620067
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Cupped ear, High palate, Wide nasal bridge	OMIM:110100
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Apnea, Abnormality of the dentition, Elbow dislocation, Genital hernia, Cystocel...	ORPHA:285
Pancreatic Colipase Deficiency	Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency, Steatorrhea	ORPHA:309108
Fanconi Anemia, Complementation Group Q	Absent thumb, Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed...	OMIM:615272
Acquired Purpura Fulminans	Acrocyanosis, Hepatic failure, Macular purpura	ORPHA:49566
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Meningioma	Urinary incontinence, Progressive pulmonary function impairment, Abnormal cerebellum morphology, ...	ORPHA:2495
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Thin upper lip vermilion, Neonatal respiratory distress, Downturned corners of mouth	ORPHA:3164
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Coarctation of aorta, Abnormal aortic morpholog...	ORPHA:2396
Cimdag Syndrome	Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Hydrocephalus, Urticaria, Cutaneous photosensitivity, Hearing impair...	ORPHA:220295
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Shprintzen Omphalocele Syndrome	Omphalocele, Neonatal respiratory distress, Thin vermilion border	OMIM:182210
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Edema, ...	OMIM:609049
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Prominence of the premaxilla, Arachnodactyly, Micrognathia, Pectus e...	OMIM:614437
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97261
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Secondary growth hormon...	ORPHA:91350
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema...	ORPHA:221
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest...	ORPHA:733
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ...	ORPHA:268
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent upper and lower respiratory tract infections	ORPHA:171876
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr...	ORPHA:54595
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci...	OMIM:259900
Hereditary Spherocytosis	Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:822
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Abnormal cerebellum morphology, Sensorineural hearing impairment, Brai...	ORPHA:637
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Ventriculomegaly, Dandy-Walker malformation	ORPHA:2612
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Isolated Arrhinia	Hypertelorism, Hypoplasia of the nasal bone, Microtia, Aplasia of the nose, Microphthalmia	ORPHA:1134
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Tented upper lip vermilion, Intestinal pseu...	ORPHA:273
10Q22.3Q23.3 Microdeletion Syndrome	Atrioventricular canal defect, Tricuspid valve prolapse	ORPHA:276413
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Cardiomegaly	OMIM:618838
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Corneal scarring	OMIM:212550
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97278
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Emphysema, Abnormal intrahepatic bile duct m...	ORPHA:363618
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Neoplas...	ORPHA:252183
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Joubert Syndrome 38	Cerebellar vermis hypoplasia, Posteriorly rotated ears, Downturned corners of mouth, Low-set ears...	OMIM:619476
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Sensorineural hearing impairment, Cutaneous photosensitivity, Telangiectasia	OMIM:278730
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Abnormality of the hepatic va...	ORPHA:1677
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Dilated cardiomyopathy, Biventricular hypert...	OMIM:619573
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Abnormal pulmonary in...	ORPHA:77293
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu...	OMIM:175780
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	ORPHA:3047
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly,...	ORPHA:75565
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t...	ORPHA:100086
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Testes - process of degenerative change	Mks1^{tm1a(EUCOMM)Wtsi}	HET		Early adult

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 Mks1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1.	eLife (February 2022)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC8880992
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Mouse Models of Rare Craniofacial Disorders.	Current topics in developmental biology (January 2015)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC7572242
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.	Cell (July 2013)	Mks1^{tm1a(EUCOMM)Wtsi}	PMC3717207
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.	Developmental biology (February 2013)	Mks1^{tm1a(EUCOMM)Wtsi}	23454480

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Mks1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mks1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Mks1 MGI:3584243

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

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Human diseases caused by Mks1 mutations

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