Gene Summary

Name:
Rpgrip1-like
Synonyms:
1700047E16Rik,  Nphp8,  Ftm,  fantom

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Rpgrip1ltm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

12 Images

Histopathology

Images

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Legacy Phenotype Associated Images

View all 247 images

Human diseases caused by Rpgrip1l mutations

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

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

The table below shows human diseases predicted to be associated to Rpgrip1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypopl... ORPHA:1926
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... ORPHA:536471
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, External genital hypoplasia, Aplasia/Hypoplasia of the mi... OMIM:201000
Meckel Syndrome, Type 1
Wide mouth, Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia, female, Exter... OMIM:249000
Mosaic Trisomy 9
High palate, Bulbous nose, Cleft palate, Abnormal liver lobulation, Hemivertebrae, Short neck, Mi... ORPHA:99776
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... ORPHA:2162
Short Rib-Polydactyly Syndrome
Cleft palate, Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Hepati... ORPHA:1505
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Exocrine pancreatic insufficiency, Pectus excavatum, Hypertrichosis, Atrioventricu... ORPHA:508498
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Pancreatic hypop... ORPHA:2255
Rubinstein-Taybi Syndrome 1
Pectus excavatum, Facial hypertrichosis, Hypoplasia of the maxilla, Clinodactyly of the 5th finge... OMIM:180849
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Abnormal helix morphology, Atrioventricular canal defect, Shor... ORPHA:1120
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Atrioventricular canal defe... OMIM:274000
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Glycosuria, Pancreatic hypoplasia, Ventricular sept... OMIM:600001
Focal Dermal Hypoplasia
Hydrocephalus, Labial hypoplasia, Hiatus hernia, Sparse hair, Cleft palate, Broad nasal tip, Clef... OMIM:305600
Alg9-Cdg
Wide mouth, Hypertrichosis, Hepatomegaly, Depressed nasal bridge, Short neck, Hypoplasia of the b... ORPHA:79328
Mmep Syndrome
Split foot, Microcephaly, Oral cleft, Ventricular septal defect, Triphalangeal thumb, Median clef... ORPHA:3434
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Cleft palate, Depressed nasal bridge, Abnormality of the urete... ORPHA:2311
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Orofaciodigital Syndrome I
High palate, Hydrocephalus, Sparse hair, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Alop... OMIM:311200
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Craniosynostosis, Ventricular septal defect, Rocker bottom foot, Double outlet righ... OMIM:301056
Primary Ciliary Dyskinesia
Hydrocephalus, Anomalous pulmonary venous return, Chronic sinusitis, Peribronchovascular intersti... ORPHA:244
Sandestig-Stefanova Syndrome
High palate, Microphthalmia, Muscular ventricular septal defect, Retrognathia, Bilateral single t... OMIM:618804
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Bulbous nose, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Alopec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Bulbous nose, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Alopec... ORPHA:363958
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Atrioventri... OMIM:619534
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... ORPHA:251071
Chops Syndrome
Anomalous pulmonary venous return, Coarse hair, Ventricular septal defect, Optic atrophy, Short n... OMIM:616368
Charge Syndrome
Abnormal cardiac septum morphology, Labial hypoplasia, Cleft palate, Overfolded helix, Tracheoeso... ORPHA:138
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Sparse hair, Cleft palate, Microtia, Retrognathia,... OMIM:147770
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cryptorchidism, Cleft palate,... OMIM:603671
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Micropenis, Retrognathia, Micrognathia, Unila... OMIM:618142
Pallister-Hall Syndrome
Cleft palate, Hypothalamic hamartoma, Decreased circulating cortisol level, Hemivertebrae, Depres... OMIM:146510
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Tetralogy of Fallot, Camptodac... OMIM:136760
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Overlapping toe, Dysplastic corpus callosum, Atri... ORPHA:363444
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, Hemivertebrae, 11 pairs of ribs, Ventricular septal defect, Med... OMIM:264480
Ventriculomegaly And Arthrogryposis
Talipes equinovarus, Micrognathia, Cerebellar hypoplasia, Ulnar deviation of the wrist, Ventricul... OMIM:619501
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Microcephaly, Anencephaly, Hyp... OMIM:611134
Chromosome 18Q Deletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Short neck, Ventricular septal defect, Opti... OMIM:601808
Fryns Syndrome
Wide mouth, Abnormal helix morphology, Cleft palate, Prominent fingertip pads, Facial hirsutism, ... OMIM:229850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pectus excavatum, Prominent sternum, 11 pairs of ribs, Short nose, Sandal gap, Delay... OMIM:617877
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Abnormality of... ORPHA:294975
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Depressed nasal ridge, Micrognathia, Scoliosis, Tetralogy o... ORPHA:1727
Peters Plus Syndrome
Wide mouth, Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Depressed nasal brid... ORPHA:709
Charge Syndrome
Labial hypoplasia, Webbed neck, Aplasia of the semicircular canal, External genital hypoplasia, C... OMIM:214800
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Anomalous pulmonary venous return, Ventricular septal defect, Solitary median maxill... OMIM:619657
Right Atrial Isomerism
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... OMIM:208530
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Depressed nasal bridge, Cutaneous syndactyly, Ventricular septal defect, Pulmonary hypoplasia, Do... OMIM:618316
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Hepatomegaly, Cleft palate, Broad alveolar ridges, Depressed nasal bridge, Microme... OMIM:270400
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Genitopalatocardiac Syndrome
Cleft upper lip, Double outlet right ventricle, Gonadal dysgenesis, male, Cleft palate, Micrognat... OMIM:231060
Sotos Syndrome
High palate, Accelerated skeletal maturation, Sparse eyebrow, Muscular ventricular septal defect,... OMIM:117550
Simpson-Golabi-Behmel Syndrome, Type 1
Wide mouth, Hydrocephalus, Posterior helix pit, Short sternum, Hepatomegaly, Cleft palate, Hepato... OMIM:312870
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Alg12-Cdg
Abnormal pinna morphology, Muscular ventricular septal defect, Short philtrum, B lymphocytopenia,... ORPHA:79324
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Hypothalamic hamartoma, Micrognathia, Micromelia, Anteri... OMIM:241800
Hydrolethalus
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Arrhinencep... ORPHA:2189
Meacham Syndrome
Blind vagina, Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonar... OMIM:608978
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Short neck, Advanced eruption of teeth, ... ORPHA:818
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventric... OMIM:301068
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Microcephaly, Abnormal lun... ORPHA:1270
Catel-Manzke Syndrome
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Short neck, Pectus carina... OMIM:616145
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Wide mouth, Bulbous nose, Sparse eyebrow, Short philtrum, Tapered finger, Optic atrophy, Tented u... ORPHA:487796
Cardioacrofacial Dysplasia 2
Atrioventricular canal defect, Short philtrum, Long thorax, Genu valgum, Conical tooth, Tented up... OMIM:619143
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the cerebellum, Micromelia, Ventr... ORPHA:1908
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... OMIM:615502
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Abnormality of the dentition, Depressed nasal bridge, Ventricular septal defect... OMIM:179613
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Thickened nucha... OMIM:618164
Ogden Syndrome
High palate, Hydrocele testis, Pectus excavatum, Sparse eyebrow, Abnormality of the dentition, Sh... OMIM:300855
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Ventricular septal defect, Abnormal femoral torsion, Long hallux, Talipes equino... ORPHA:500095
Chromosome 9P Deletion Syndrome
High palate, Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Hea... OMIM:158170
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Hypoplasia of the ... OMIM:164180
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft palate, Sparse eyebrow, Cutaneous syndactyly, Broad hallux, Ventricular septal defect, Tent... OMIM:600987
Simpson-Golabi-Behmel Syndrome
Wide mouth, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Cleft palate, Accelerated skeletal ma... ORPHA:373
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Wide mouth, Delayed eruption of teeth, Cholestasis, Esophageal varix, Mandibular prognathia, Join... OMIM:619503
Stankiewicz-Isidor Syndrome
Low-set ears, 2-3 toe syndactyly, Absent thumb, Micropenis, Retrognathia, Micrognathia, Hypospadi... OMIM:617516
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Cleft palate, Hemivertebrae, Depressed nasal bridge, Ventricular septal defect, Si... OMIM:220210
Desmosterolosis
Hydrocephalus, Anomalous pulmonary venous return, Cleft palate, Depressed nasal bridge, Micromeli... ORPHA:35107
Trisomy 1Q
Hydrocephalus, Narrow mouth, Microretrognathia, Cleft palate, Congenital megaureter, Arachnodacty... ORPHA:261344
Fryns Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Cleft palate, Short neck, Tented upp... ORPHA:2059
Gombo Syndrome
Microcephaly, Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of f... OMIM:233270
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Frontal cortical atrophy, Thin vermilion border, Micrognathia, Death in childhood, ... OMIM:618766
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Pectus excavatum, Delayed eruption of teeth, Optic atrophy, Genu valgum, Microphthalmia, Mandibul... ORPHA:261552
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Abnormal helix morphology, Overfolded helix, Micrognathia, Dep... ORPHA:1913
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Pectus excavatum, Abnormality of hair texture, ... ORPHA:96169
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... ORPHA:261243
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callos... OMIM:604213
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Pul... OMIM:615524
Marden-Walker Syndrome
High palate, Cleft palate, Radioulnar synostosis, Pulmonary hypoplasia, Microphthalmia, Talipes e... OMIM:248700
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Pectus excavatum, Cleft palate, Short philtrum, Pulmonary artery sling, Depress... ORPHA:261537
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Depressed nasal ridge, Anencephaly... ORPHA:564
Down Syndrome
Atrioventricular canal defect, Single transverse palmar crease, Ventricular septal defect, Sandal... OMIM:190685
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Pallister-Hall Syndrome
Central adrenal insufficiency, Cleft palate, Atrioventricular canal defect, Hypothalamic hamartom... ORPHA:672
Filippi Syndrome
Hypertrichosis, Sparse hair, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Microdont... OMIM:272440
Noonan Syndrome 4
Wide mouth, Webbed neck, Pectus excavatum, Sparse eyebrow, Depressed nasal bridge, Short neck, Ve... OMIM:610733
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Intestin... OMIM:616749
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Abnormal pinna morphology, Hepatomegaly, Short neck, Anencephaly, Lobulated tongue... OMIM:269860
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Midshaft hypospadias, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachyd... ORPHA:2863
Lowry-Maclean Syndrome
Hydrocephalus, Cleft palate, Atrioventricular canal defect, Craniosynostosis, Osteopenia, Pyloric... ORPHA:2409
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Hepato... OMIM:615630
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Horseshoe kidney, Um... OMIM:115470
Mowat-Wilson Syndrome
Hydrocele testis, Abnormal cardiac septum morphology, Pectus excavatum, Cleft palate, Depressed n... ORPHA:2152
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Abnormality of the tongue, Chronic kidney disease, Hepatic amyloidosis, Abno... ORPHA:314652
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Low-set ears, Bulbous nose, Talipes equinovarus, Macroglossia, Everted lower lip verm... OMIM:616789
Triploidy
Wide mouth, Abnormal cardiac septum morphology, Hydrocephalus, Hepatomegaly, Cleft palate, Short ... ORPHA:3376
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Prominent sternum, ... ORPHA:96334
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Single transverse palmar crease, Double outlet right ventricle, Micrognathia, Tetral... ORPHA:3304
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal pinna morphology, Ventricular septal defect, Sandal gap, Abnormal heart morphology, Doub... ORPHA:477817
Thanatophoric Dysplasia Type 2
Narrow chest, Kyphosis, Hydrocephalus, Limitation of joint mobility, Atrial septal defect, Holopr... ORPHA:93274
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Ambiguous genitalia... OMIM:617641
Bowen Syndrome Of Multiple Malformations
Micrognathia, Death in childhood, Hypospadias, Agenesis of corpus callosum, Abnormal heart morpho... OMIM:211200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Death in childhood, Hypoplasia of the pons, Cerebell... OMIM:613153
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Hydrocephalus, Craniosynostosis, Limited elbow ext... ORPHA:93932
Peters-Plus Syndrome
Hydrocephalus, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Micro... OMIM:261540
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Cleft palate, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Paten... OMIM:619343
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Shor... OMIM:609945
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Low-set ears, Talipes equinovarus, Hepatomegaly, Anemia, Short neck, Lo... OMIM:608104
Microcephaly 16, Primary, Autosomal Recessive
Adducted thumb, Micrognathia, Microcephaly, Open mouth, Simplified gyral pattern, Cryptorchidism,... OMIM:616681
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Overlapping toe, Narrow mouth, Cerebral atrophy, Thin vermilion borde... OMIM:600118
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Bulbous nose, Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotr... OMIM:608836
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, High palate, Cleft palate, Overfolded helix, Depressed nasal bridge, Short nose... OMIM:614080
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... ORPHA:96170
Restrictive Dermopathy
Multiple joint contractures, Sparse hair, Sparse eyebrow, Short nail, Osteopenia, Sparse or absen... ORPHA:1662
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis,... ORPHA:371428
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Biliary tract abnormality, Hyp... OMIM:156810
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephro... OMIM:266920
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Microcephaly, Anophthalmia, Polydactyly, Post... OMIM:613885
Congenital Alveolar Capillary Dysplasia
Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect, Single umbil... ORPHA:210122
Monosomy 18Q
High palate, Wide mouth, Hydrocephalus, Bulbous nose, Pectus excavatum, Depressed nasal bridge, S... ORPHA:1600
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Cleft palate, Micromelia, Enlarged kidney, Sandal gap, Microphallus, Cleft upper l... OMIM:612651
Thauvin-Robinet-Faivre Syndrome
Sensorineural hearing impairment, Bowing of the legs, Long hallux, Macroglossia, Nephroblastoma, ... OMIM:617107
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Hem... ORPHA:7
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Cerebral atrophy, Death in childhood, Pulmonary artery atresia, Ventricular septal defect, Elevat... OMIM:613759
Recombinant 8 Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Ventricular... ORPHA:96167
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foo... OMIM:614120
Halperin-Birk Syndrome
High palate, Talipes equinovarus, Micrognathia, Death in childhood, Agenesis of corpus callosum, ... OMIM:618651
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pectus excavatum, Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal defect, R... OMIM:235510
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Hydrocephalus, Bulbous nose, Cleft palate, Overfolded helix, A... ORPHA:567
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal defect, Ambiguous ... ORPHA:3097
Distal Monosomy 7Q36
Wide mouth, Bulbous nose, Clinodactyly of the 5th finger, Pectus excavatum, Hypoplasia of penis, ... ORPHA:1636
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Bulbous nose, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... OMIM:612474
Mosaic Variegated Aneuploidy Syndrome
Cleft palate, Stomach cancer, Depressed nasal ridge, Aplasia/Hypoplasia of the cerebellum, Abnorm... ORPHA:1052
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Micrognathia, Anophthalmia, Dextrocardia, Microphthalmia OMIM:221950
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Microphthalmia, Rocker bottom foot, Micrognathia, Long ... OMIM:214150
Cranioectodermal Dysplasia 1
High palate, Pectus excavatum, Hepatomegaly, Sparse hair, Hepatic failure, Short nail, Microdonti... OMIM:218330
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Polymicrogyria, Ventricular... ORPHA:1692
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... ORPHA:401942
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Anal atresia, Abnormal cardiac septum morphology, Renal hyp... ORPHA:1590
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Pectus excavatum, Cleft palate, Sparse eyebrow, Broad nasal tip, Short philtrum, Dep... OMIM:612530
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Sparse hair, Cleft palate, Overfolded helix, Depressed nasal bridge, Short philtrum, ... OMIM:280000
Knobloch Syndrome
Hydrocephalus, Lymphangioma, Abnormal hair morphology, Macular degeneration, Depressed nasal brid... ORPHA:1571
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Hypospadias, Broad hallux phalanx, Camptodactyly of... OMIM:175700
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Cleft palate, Depressed nasal bridge, Short phi... OMIM:301022
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Short philtrum, Tapered finger, Narrow palm, ... OMIM:216550
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Adducted thumb, Muscular ventricular septal defect, Microcephaly, Brachydactyly... OMIM:620062
Septopreoptic Holoprosencephaly
Precocious puberty, Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Coa... ORPHA:280195
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Talipes equinovarus, Hepatomegaly, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:615415
15Q11.2 Microdeletion Syndrome
Abnormal pinna morphology, Atrial septal defect, Dilated fourth ventricle, Coarctation of aorta, ... ORPHA:261183
Kallmann Syndrome-Heart Disease Syndrome
Cleft palate, Osteopenia, Heart murmur, Bilateral cryptorchidism, Delayed skeletal maturation, Do... ORPHA:2326
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, High palate, Congenital megaureter, Split foot, Mi... ORPHA:2437
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Ventricular septal defect, Downturned corners of mouth, Rhizomelia,... ORPHA:93267
Bohring-Opitz Syndrome
Hypertrichosis, Depressed nasal bridge, Tapered finger, Ventricular septal defect, Sacral dimple,... OMIM:605039
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Atrial r... OMIM:270100
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Malar flattening, Hypospadias, Microcephaly, Brachydactyly, Tet... ORPHA:1919
Amish Lethal Microcephaly
Hepatomegaly, Micrognathia, Microcephaly, Organic aciduria, Cerebellar vermis hypoplasia, Lissenc... ORPHA:99742
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hemivertebrae, Depressed nasal bridge, Tapered finger, Ventricular septal defect, Short nose, HbH... OMIM:301040
Knobloch Syndrome 1
Bulbous nose, Depressed nasal bridge, Attenuation of retinal blood vessels, Pyloric stenosis, Opt... OMIM:267750
Cardiospondylocarpofacial Syndrome
Wide mouth, Bulbous nose, Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular ... OMIM:157800
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Micropenis, Retrognath... OMIM:243310
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal de... OMIM:249630
Sotos Syndrome
Hydrocele testis, Pectus excavatum, Accelerated skeletal maturation, Craniosynostosis, Abnormalit... ORPHA:821
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Polydactyly, Malformatio... OMIM:607361
Cystic Echinococcosis
Abnormality of the testis size, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... ORPHA:400
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Aplasia/Hypoplasia of the gallbladder, Abnormal heart morphology, Clinodactyly of the... ORPHA:96092
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Adducted thumb, Micrognathia, Microcephaly, Aplasia/Hypoplasia of the ... ORPHA:3207
Pseudoaminopterin Syndrome
High palate, Hydrocephalus, Pectus excavatum, Prominent sternum, Slender finger, Short philtrum, ... ORPHA:221120
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Rabson-Mendenhall Syndrome
High palate, Hypertrichosis, Abnormality of the dentition, Advanced eruption of teeth, Long penis... ORPHA:769
Ververi-Brady Syndrome
High palate, Wide mouth, Metaphyseal irregularity, Clinodactyly of the 5th finger, Delayed skelet... OMIM:617982
Jacobsen Syndrome
Hydrocephalus, Pectus excavatum, Labial hypoplasia, Depressed nasal bridge, Short neck, Clitoral ... OMIM:147791
Double Outlet Right Ventricle
Hypoparathyroidism, Double outlet right ventricle, Narrow mouth, Abnormality of cartilage of exte... ORPHA:3426
Mosaic Trisomy 16
Wide mouth, Single coronary artery origin, Craniofacial asymmetry, Single transverse palmar creas... ORPHA:1708
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate... OMIM:206920
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cleft palate, Short philtrum, Hypoplasia of the corpus callosum, Ventricular sept... ORPHA:464738
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Hepatic c... ORPHA:730
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ureteral obstruction, Pulmonary ... ORPHA:90652
Renpenning Syndrome
Pectus excavatum, Cleft palate, Alopecia, Short philtrum, Macrodontia, Mandibular prognathia, Ske... ORPHA:3242
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Holoprosencephaly, Apla... ORPHA:990
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Low-set ears, Webbed neck, Atrial septal defect, Systolic hea... OMIM:617478
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Wide mouth, Short philtrum, Ventricular septal defect, Open mouth, Cardiomegaly, Dysplastic corpu... OMIM:300967
Dpm1-Cdg
Hepatomegaly, Sandal gap, Tented upper lip vermilion, U-Shaped upper lip vermilion, Long hallux, ... ORPHA:79322
Microform Holoprosencephaly
Cleft palate, Short philtrum, Ambiguous genitalia, Short nose, Solitary median maxillary central ... ORPHA:280200
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Short philtrum, Hypoplasia of the maxilla, Solitary median maxillary... OMIM:610829
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Short neck, Ventricular sep... OMIM:612582
Trisomy 18
Cleft palate, Abnormality of the upper urinary tract, Anencephaly, Abnormality of the upper limb,... ORPHA:3380
Stromme Syndrome
Wide mouth, Hydrocephalus, Cleft palate, Preaxial polydactyly, Micrognathia, Bilateral renal hypo... OMIM:243605
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal cardiac septum morphology, Abnormal pinna morphology, Triangula... OMIM:200990
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Preaxial polydactyly, Hypospadias, Hypogonadotropic hypogonadism, ... ORPHA:141333
Velocardiofacial Syndrome
Abnormality of the ear, Bulbous nose, Cleft palate, Ventricular septal defect, Retinal vascular t... OMIM:192430
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Hypothyroidism, Hearing impairment, Chronic rhinitis, Bronc... OMIM:617577
Alveolar Echinococcosis
Abnormal skeletal muscle morphology, Hepatic cysts, Pedal edema, Abnormality of adrenal morpholog... ORPHA:284
Monosomy 13Q34
Pulmonic stenosis, Micrognathia, Epistaxis, Broad nasal tip, Agenesis of corpus callosum, Hematoc... ORPHA:96168
Fanconi Anemia
High palate, Abnormality of femur morphology, Abnormal cardiac septum morphology, Arteriovenous m... ORPHA:84
Isolated Klippel-Feil Syndrome
Ectopic anus, Anal atresia, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Renal hypoplasia/a... ORPHA:2345
Neu-Laxova Syndrome 1
Cleft palate, Bifid uterus, Short neck, Micromelia, Small placenta, Ventricular septal defect, Pu... OMIM:256520
Restrictive Dermopathy 1
Sparse eyebrow, Short nail, Depressed nasal bridge, Decreased calvarial ossification, Ankylosis, ... OMIM:275210
Sweeney-Cox Syndrome
High palate, Cleft palate, Overfolded helix, Short philtrum, Cutaneous syndactyly, Widow's peak, ... OMIM:617746
Lissencephaly 3
Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria, Cerebellar vermis hypopl... OMIM:611603
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Protruding ear, Clinodactyly of the 5th finger, Cleft palate, Atrioventricular canal de... OMIM:619123
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Anencephaly, Polydactyly, Postaxial hand polydactyly, Renal cyst, B... OMIM:603194
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Pectus excavatum, Webbed neck, Cleft palate, Overfolded helix, Ventri... OMIM:300373
Tuberous Sclerosis Complex
Hepatic cysts, Retinal astrocytic hamartoma, Retinal hamartoma, Hypertension, Stage 5 chronic kid... ORPHA:805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Optic atrophy, Microphthalmia, Encephalocele, Skeletal muscle atrophy, Myocardial ... OMIM:253800
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cereb... ORPHA:280
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... OMIM:611561
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Sparse hair, Sparse eyebrow, Limb hypertonia,... ORPHA:444072
X-Linked Intellectual Disability, Nascimento Type
Wide mouth, Depressed nasal bridge, Ventricular septal defect, Double outlet right ventricle, Per... ORPHA:163956
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... ORPHA:1106
Koolen-De Vries Syndrome
High palate, Bulbous nose, Pectus excavatum, Abnormality of hair texture, Slender finger, Cleft p... OMIM:610443
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Atrial septal defect, Adducted thumb, Abnormal retinal morphology, Wide nose, ... ORPHA:89844
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... OMIM:619148
Robinow Syndrome
Dental crowding, Tricuspid atresia, Triangular mouth, External genital hypoplasia, Hemivertebrae,... ORPHA:97360
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Malar f... ORPHA:1388
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Ev... ORPHA:513456
Masa Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Ventriculomegaly, Hand clenching, Agenes... ORPHA:2466
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Cone-shaped epiphyses of the phalanges of the hand, Bulbous nose, Pectus excav... OMIM:150230
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Pulmonary hypoplasia, Patent ura... OMIM:618280
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Microcephaly, Rocker bottom foot, Microphthalmia OMIM:616570
Pierpont Syndrome
Short toe, Long upper lip, Prominent fingertip pads, Malar flattening, Everted lower lip vermilio... ORPHA:487825
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Alopecia, Abnormality of the dentition, Short philtrum, Short neck,... ORPHA:1507
Partial Deletion Of The Short Arm Of Chromosome 7
Flexion contracture of thumb, Cleft palate, Depressed nasal bridge, Submucous cleft lip, Bilatera... ORPHA:261911
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Pectus carinatum, Genu valgum, Short long bone, Cleft upper lip, Aceta... OMIM:225500
Glycogen Storage Disease Iii
Hepatomegaly, Malar flattening, Thin vermilion border, Elevated hepatic transaminase, Hepatic fib... OMIM:232400
49,Xxxxy Syndrome
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Down-sloping shoulders, Short neck, ... ORPHA:96264
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Low-set ears, Narrow mouth, Atrial septal defect, Tricuspid regurgitation, Malar flattening, Stea... OMIM:601347
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Walker-Warburg Syndrome
Hydrocephalus, Cleft palate, Abnormal cerebellar vermis morphology, Polymicrogyria, Microphthalmi... ORPHA:899
Marcus-Gunn Syndrome
Nephrolithiasis, Cleft palate, Abnormality of the sense of smell, Morning glory anomaly, Coloboma... ORPHA:91412
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Talipes equinovarus, Cleft palate, Anencephaly, Hepatic cysts, Po... OMIM:612284
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Cleft palate, Overfolded helix, Short philtrum, Tapered finger, Broad hallux, Ventricular septal ... OMIM:301044
Hypoglossia With Situs Inversus
High palate, Low-set ears, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis, Microg... OMIM:612776
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Micrognathia, Long philtrum, Ulnar deviation of the wrist, Hypoplasia of the corpu... OMIM:618577
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hydrocephalus, Depressed nasal ridge, Abnormal external genitalia, Depressed nasal b... OMIM:607872
3P25.3 Microdeletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, 2-3 finger syndactyly, Tapered finger, Pylo... ORPHA:435638
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Rhizomelia, Short nose, Bilateral talip... OMIM:602398
Intellectual Developmental Disorder, Autosomal Dominant 66
Clinodactyly of the 5th finger, Toe clinodactyly, Secundum atrial septal defect, Pectus excavatum... OMIM:619910
Band Heterotopia
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Coach Syndrome 2
Hydrocephalus, Congenital hepatic fibrosis, Elevated hepatic transaminase, Cerebellar vermis hypo... OMIM:619111
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... ORPHA:79345
Gm1 Gangliosidosis
Depressed nasal ridge, Broad nasal tip, Aplasia/Hypoplasia of the abdominal wall musculature, Pla... ORPHA:354
Benign Schwannoma
Peripheral Schwannoma, Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophag... ORPHA:252164
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar cr... OMIM:614701
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Microphthal... OMIM:616300
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Polymicrogyria, Microphthalmia, Abnormal cerebellum morphology, Hypoplasia of the ... ORPHA:370959
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Hydrocephalus, Cleft palate, Absent thumb, Hypoplasia of the radius, Radioulnar synos... OMIM:154400
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Brain stem compression, Areflexia of upper limbs, Abnormality of... ORPHA:268882
Distal Monosomy 10Q
High palate, Facial diplegia, Pectus excavatum, Cleft palate, Prominent fingertip pads, Craniosyn... ORPHA:96148
Viss Syndrome
High palate, Chronic gastritis, Tortuous cerebral arteries, Pectus excavatum, Alopecia, Depressed... OMIM:619472
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Low anterior hairline, Atrial septal def... OMIM:612946
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Hypospadias, C... ORPHA:3080
Meckel Syndrome 14
Microretrognathia, Microphthalmia, Holoprosencephaly, Retrognathia, Micrognathia, Single ventricl... OMIM:619879
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Webbed neck, Pectus excavatum, Triangular mouth, Sparse hair, Craniosynostosis, Over... OMIM:617506
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Split foot, Microcephaly, Oral cleft, Widely-spaced maxillary cent... OMIM:601349
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
High palate, Clinodactyly of the 5th finger, Hypoplasia of the corpus callosum, Dental crowding, ... OMIM:612948
Kbg Syndrome
Cleft palate, Cutaneous syndactyly, Short neck, Macrodontia, Finger clinodactyly, Bilateral condu... ORPHA:2332
Weiss-Kruszka Syndrome
Overfolded helix, Single transverse palmar crease, Ventricular septal defect, Short nose, Clinoda... OMIM:618619
Caudal Regression Syndrome
Abnormality of the ureter, Aplasia/Hypoplasia of the sacrum, Ambiguous genitalia, Pulmonary hypop... ORPHA:3027
Lissencephaly 7 With Cerebellar Hypoplasia
Micrognathia, Microcephaly, Neonatal death, Cerebellar hypoplasia, Downturned corners of mouth, A... OMIM:616342
Slc35A2-Cdg
Transient nephrotic syndrome, Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contractu... ORPHA:356961
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Adducted thumb, Microcephaly, Ventriculomegaly, Agenesis of c... OMIM:303350
Myhre Syndrome
Sparse hair, Cleft palate, Short philtrum, Cone-shaped epiphysis, Short neck, Platyspondyly, Vent... OMIM:139210
Marshall-Smith Syndrome
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip ... OMIM:602535
Prune Belly Syndrome
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Aplasia of the abdominal... ORPHA:2970
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... ORPHA:380
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Fadd-Related Immunodeficiency
Decreased liver function, Cerebral atrophy, Pulmonary artery atresia, Ventricular septal defect, ... ORPHA:306550
Carpenter Syndrome 2
High palate, Pectus excavatum, Sparse eyebrow, Craniosynostosis, Depressed nasal bridge, Short ne... OMIM:614976
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormality of the dentition, Abnormal cerebral white matter morpholo... ORPHA:500166
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Depressed nasal tip, Aplasia/Hypoplasia of the middle pha... OMIM:164280
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Tapered finger, Single transverse palmar crease, Tented upper lip vermilion, Open mou... OMIM:619720
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Narrow mouth, Clinodactyly of the 5th finger, Convex nasal ridge,... ORPHA:369950
Kapur-Toriello Syndrome
Bulbous nose, Cleft palate, Short neck, Single transverse palmar crease, Ventricular septal defec... OMIM:244300
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Wide mouth, Bulbous nose, Pectus excavatum, Slender finger, Single transverse palmar crease, Vent... ORPHA:329224
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Abnormal helix morphology, Cleft palate, Atrioventricular canal defect, Craniosynost... ORPHA:453499
Alg3-Cdg
High palate, Decreased liver function, Abnormality of the endocrine system, Abnormal pinna morpho... ORPHA:79321
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... ORPHA:171703
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Protruding ear, Tooth agenesis, Renal hypoplasia/... ORPHA:1166
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Triangular mouth, Cerebral atrophy, Cutan... ORPHA:166024
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Dysplastic corpus callosum, Joint contracture of the hand, Cleft palate, Overlap... OMIM:601016
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide mouth, Abnormal cardiac septum morphology, Bulbous nose, Cleft palate, Depressed nasal bridg... OMIM:618454
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Otitis media, Carious teeth... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Otitis media, Carious teeth... ORPHA:353277
Imagawa-Matsumoto Syndrome
Polymicrogyria, Camptodactyly, Large hands, Clinodactyly, Umbilical hernia, Mandibular prognathia... OMIM:618786
Orofaciodigital Syndrome Xiv
Abnormal pinna morphology, Cleft palate, Lobulated tongue, Optic disc coloboma, Ventricular septa... OMIM:615948
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Omphalocele, Microp... ORPHA:3186
Baraitser-Winter Syndrome 2
Wide mouth, Retrognathia, Long philtrum, Oral cleft, Lissencephaly, Ventriculomegaly, Microphthal... OMIM:614583
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Bilateral talipes equinovarus, Death in childhood, Microcephaly, Death in adolescence, Cerebellar... OMIM:616486
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Marden-Walker Syndrome
Hydrocephalus, Cleft palate, Abnormal cerebellar vermis morphology, Radioulnar synostosis, Ventri... ORPHA:2461
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Periportal fibrosis, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Polyhydramnios, Renal... OMIM:263630
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Otitis media, Carious teeth, Broad hallux, Ventricular septal defect, Abnormality of the curvatur... ORPHA:353281
Monosomy 18P
Abnormal antihelix morphology, Pectus excavatum, Cleft palate, Alopecia, Short philtrum, Short ne... ORPHA:1598
Microcephaly 17, Primary, Autosomal Recessive
Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Thick vermilion border, Simplified gyral p... OMIM:617090
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
High palate, Recurrent otitis media, Ankle clonus, Broad nasal tip, Long nose, Brachydactyly, Dex... OMIM:619995
Anencephaly 2
Median cleft palate, Anencephaly, Anophthalmia, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Otitis media, Hypo... OMIM:122470
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Dysplastic corpus callosum, Muscular ventricular septal defect, Mi... OMIM:618569
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Clinodactyly of the 5th finger, Unusual dermatoglyphics, Agenesis of corpus callosum, Hypoplasia ... ORPHA:262767
Craniofaciofrontodigital Syndrome
Hypertrichosis, Stroke, Finger joint hypermobility, Anomalous branches of internal carotid artery... ORPHA:363705
Acrocardiofacial Syndrome
Cleft palate, Ventricular septal defect, Long eyelashes, Cleft upper lip, Anal atresia, Joint dis... ORPHA:2008
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Hypertrichosis, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Sho... OMIM:213980
17Q24.2 Microdeletion Syndrome
Short philtrum, Short neck, Abnormality of the ankles, Upper limb undergrowth, Progressive conduc... ORPHA:529962
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum,... ORPHA:1528
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Death in infancy, ... OMIM:619302
Congenital Tracheomalacia
Tracheoesophageal fistula, Ventricular septal defect, Pulmonary hypoplasia, Pneumonia, Cardiomega... ORPHA:95430
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal pinna morphology, Pectus excavatum, Osteopenia, Thoracic kyphoscoliosis, Aortic dissecti... ORPHA:1900
Orofaciodigital Syndrome Xvii
High, narrow palate, Micropenis, Retrognathia, Partial duplication of thumb phalanx, Short middle... OMIM:617926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Tracheoesophageal fistula, Hemivertebrae, ... ORPHA:77298
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Overriding aorta, Broad nasal tip, Depressed nasal bridge... OMIM:601927
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Hypoplasia of the corpus callosum, Postaxial hand polydactyly, Ven... OMIM:615937
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Hypoplasia of the radius, Micrognathia, Hypospadias, Thin vermilion b... ORPHA:96097
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate, Microcephaly, Hypoplasia of the corpus callosum, Preaxial hand pol... OMIM:601420
Holoprosencephaly 13, X-Linked
Median cleft palate, Cleft palate, Ventricular septal defect, Solitary median maxillary central i... OMIM:301043
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... OMIM:618845
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Craniosynostosis, Osteopenia, Broad nasal tip, Ventricular septal defect, Sagittal ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Craniosynostosis, Osteopenia, Broad nasal tip, Ventricular septal defect, Sagittal ... ORPHA:352665
Gaba-Transaminase Deficiency
Retrognathia, Death in childhood, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect, Broad nasal t... ORPHA:508488
Ctcf-Related Neurodevelopmental Disorder
Hypertrichosis, Macrodontia of permanent maxillary central incisor, Cleft palate, Prominent finge... ORPHA:363611
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Cofs Syndrome
Cerebral cortical atrophy, Everted lower lip vermilion, Cerebral calcification, Micrognathia, Cam... ORPHA:1466
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Malar flattening, Hypospadias, Chiari type I malformation, Hypoplasia of the corpu... OMIM:218350
Orofaciodigital Syndrome Type 6
High palate, Cleft palate, Hypothalamic hamartoma, Finger clinodactyly, Lobulated tongue, Hypopla... ORPHA:2754
Hydrolethalus Syndrome 1
Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal defect, Microphthalmia, Tal... OMIM:236680
Opitz Gbbb Syndrome
High palate, Cleft palate, Aplasia/Hypoplasia of the cerebellar vermis, Craniosynostosis, Tracheo... ORPHA:2745
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Hydrocephalus, Abnormal helix morphology, Abnormal external genita... ORPHA:314588
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Hydrocephalus, Thoracic scoliosis, Atrial septal defect, Postaxial polydactyly, Abnorma... OMIM:603387
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Brachydactyl... ORPHA:401935
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cleft palate, Abnormality of the hypothalamus-pituitary axis, Polymicrogyria, Oral... ORPHA:220493
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cavum septum pellucidum, Syndactyly, Polydactyly, Polymicrogyria, Ventricular sept... OMIM:602501
Beckwith-Wiedemann Syndrome
Wide mouth, Exocrine pancreatic insufficiency, Posterior helix pit, Hepatomegaly, Hepatoblastoma,... ORPHA:116
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Oral cleft, Large hands, Decreased testicular size, Cryptorchidism, Preaxial han... ORPHA:85287
Doors Syndrome
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Abno... ORPHA:79500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Short nose, Pulmo... OMIM:616897
Extracranial Carotid Artery Aneurysm
Abnormality of the neck, Stroke, Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis,... ORPHA:494424
1Q44 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Thin vermilion border, Micrognath... ORPHA:238769
Greenberg Dysplasia
Hepatomegaly, Anterior rib punctate calcifications, Depressed nasal ridge, Horizontal sacrum, Dep... OMIM:215140
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Everted lower lip vermilion, Sma... OMIM:619980
Non-Specific Syndromic Intellectual Disability
High palate, Prominent fingertip pads, Depressed nasal bridge, Down-sloping shoulders, Broad hall... ORPHA:528084
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormality of the dentition, Abnormality of the ureter, Micromeli... ORPHA:289
Orofaciodigital Syndrome V
High palate, Cleft palate, Lobulated tongue, Optic disc coloboma, Ventricular septal defect, Sand... OMIM:174300
Oculodentodigital Dysplasia
Abnormality of the ear, Abnormal clavicle morphology, Sparse hair, Cleft palate, Aplasia/Hypoplas... ORPHA:2710
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Micrognathia, Hypospadias, Multi... ORPHA:2075
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Overfolded helix, Single transverse palmar crease, Ventricular septal de... OMIM:618950
Transaldolase Deficiency
Wide mouth, Hepatomegaly, Micronodular cirrhosis, Depressed nasal bridge, Short philtrum, Short n... OMIM:606003
Autosomal Recessive Amelia
Abnormal cardiac septum morphology, Hypoplasia of penis, Cryptorchidism, Micrognathia, Acromelia ... ORPHA:1027
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Duodenal atresia, Butterfly vertebrae, Pectus excavatum, Hypertrichosis, Webbed... OMIM:619227
Pierpont Syndrome
Short toe, Cryptorchidism, Prominent fingertip pads, Malar flattening, Micropenis, Deep palmar cr... OMIM:602342
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Ventriculomegaly, Megalencephaly OMIM:615938
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Pectus excavatum, Anal atresia, Epiphyseal dysplasia, Dislocated radial head, Metaphyseal dysplas... OMIM:617425
Microphthalmia With Brain And Digit Anomalies
High palate, Abnormality of the hypothalamus-pituitary axis, Microcephaly, Anophthalmia, Inferior... ORPHA:139471
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, Atrial arrhythmia, Systol... ORPHA:99105
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum, Joint contracture of the hand, Camptodactyly OMIM:217990
Mohr Syndrome
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the max... OMIM:252100
Opitz-Kaveggia Syndrome
Dental crowding, Wide mouth, Multiple joint contractures, Hydrocephalus, Sparse hair, Cleft palat... OMIM:305450
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Single umbilica... OMIM:609029
Larsen Syndrome
Pectus excavatum, Cleft palate, Short nail, Depressed nasal bridge, Pectus carinatum, Ventricular... OMIM:150250
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Polymicrogyria, Microphthalmia, Hypoplas... OMIM:615771
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Abnormality of the hand, Long philtrum, Cryptorchidism, Agenesis of corpus c... ORPHA:1621
De Barsy Syndrome
High palate, Pectus excavatum, Sparse hair, Osteopenia, Congenital hip dislocation, Delayed erupt... ORPHA:2962
Lissencephaly, X-Linked, 1
Micropenis, Agyria, Lissencephaly, Death in infancy, Pachygyria, Agenesis of corpus callosum OMIM:300067
Coach Syndrome 1
Wide mouth, Hepatomegaly, Aplasia/Hypoplasia of the cerebellar vermis, Nephronophthisis, Optic di... OMIM:216360
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia OMIM:611638
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Atrioventricular canal defect, Depressed nasal bridge, Short philtrum, Sprengel anom... OMIM:618929
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Narrow mouth, Bulbous nose, Congenital diaphragmat... ORPHA:1780
Craniofacial Microsomia
Wide mouth, Hydrocephalus, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Anotia, Unde... OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Tapered finger, Single transverse palmar crease, Ventricular septal defect, Mandibular prognathia... OMIM:300998
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Gingival overgrowth, Camptodactyly of finger, Jaw swelling, Flexion contracture of toe, Ventricul... OMIM:619323
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Anal atresia,... ORPHA:391641
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Short philtrum, Narrow palm, Umbilical hernia, Abnormal heart morpholog... ORPHA:352490
16P13.11 Microdeletion Syndrome
Wide mouth, Pectus excavatum, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Sh... ORPHA:261236
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Malar flattening, Partial duplication of thumb phalan... OMIM:601165
Orofaciodigital Syndrome Type 5
High, narrow palate, Tetralogy of Fallot, Postaxial hand polydactyly, Non-midline cleft lip, Agen... ORPHA:2919
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Coarse hair, Short neck, Biconcave vertebral bodies, Short nasal b... OMIM:130720
7Q11.23 Microduplication Syndrome
High palate, Hydrocephalus, Pectus excavatum, Craniosynostosis, Overfolded helix, Hemivertebrae, ... ORPHA:96121
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Agenesis of corpus... ORPHA:521308
6Q25 Microdeletion Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Cleft palate, Micrognathia, Campto... ORPHA:251056
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Pectus excavatum, Long nose, Short philtrum, Ventricular septal defect, Hypoplasia o... OMIM:309520
Digeorge Syndrome
Hydrocele testis, High palate, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Double outlet right ventricle, Hydrocephalus, Wide anterior fontanel, Atrial sept... OMIM:614886
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Periportal fibrosis, Narrow greater sciatic notch, Retrognathia, Mic... OMIM:263210
Ring Chromosome 21 Syndrome
Azoospermia, Fused thoracic vertebrae, Small hand, Holoprosencephaly, Syndactyly, Scoliosis, Narr... ORPHA:1445
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Short distal phalanx of finger, Hydrocephalus, Absent hand, ... ORPHA:974
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... ORPHA:369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
High palate, Wide mouth, Hydrocele testis, Proportionate shortening of all digits, Proximal muscl... ORPHA:280633
Fanconi Anemia, Complementation Group I
Atrial septal defect, Decreased response to growth hormone stimulation test, Absent thumb, Hypopl... OMIM:609053
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Agenesis o... OMIM:218670
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebellum morphology, Small cerebral cortex, Microcephaly, Abnormal cerebral morphology... ORPHA:329228
Frank-Ter Haar Syndrome
High palate, Wide mouth, Pectus excavatum, Osteopenia, Broad nasal tip, Depressed nasal bridge, V... OMIM:249420
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kid... ORPHA:2538
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Mi... OMIM:617866
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... ORPHA:1406
Microlissencephaly
Cerebral dysmyelination, Cerebral cortical atrophy, Microcephaly, Polymicrogyria, Hypoplasia of t... ORPHA:1083
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Micrognathia, Microcephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydranencepha... OMIM:225790
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar vermis OMIM:300864
Arboleda-Tham Syndrome
Wide mouth, Pectus excavatum, Cleft palate, Craniosynostosis, Broad nasal tip, Short philtrum, Sp... OMIM:616268
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Abnormality of the urinary system, Communicating hy... ORPHA:2184
14Q22Q23 Microdeletion Syndrome
Clinodactyly of the 5th finger, Micrognathia, Anophthalmia, Adrenal hypoplasia, Ventriculomegaly,... ORPHA:264200
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Perisylvian polymicrogyria, Unilateral wrist flexion contracture, Talipes equinovarus, Micrognath... OMIM:616531
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Recurrent bronchopulmonary infections, Death in infancy ORPHA:85334
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Aortic root aneurysm, Umbilical hernia, Carotid a... OMIM:618000
Kagami-Ogata Syndrome
Hepatomegaly, Depressed nasal bridge, Ventricular septal defect, Hypoplasia of the maxilla, Pulmo... OMIM:608149
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
High palate, Absent nipple, Hydrocephalus, Pectus excavatum, Hemivertebrae, Depressed nasal bridg... OMIM:104350
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hemivertebrae, Ventricular septal defect, Microphthalmia, Rib fusion, Hyp... OMIM:206900
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Hydrocephalus, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Osteop... OMIM:182212
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Pectus excavatum, Stroke, Slender long b... ORPHA:536467
Agnathia-Otocephaly Complex
Low-set ears, Narrow mouth, Conductive hearing impairment, Secundum atrial septal defect, Cleft p... OMIM:202650
Acromelic Frontonasal Dysplasia
Wide mouth, Hypoplasia of the olfactory bulb, Talipes equinovarus, Aplasia/Hypoplasia of the tibi... ORPHA:1827
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Accelerated skele... ORPHA:1354
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Subretinal deposits, Overfolded helix, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis,... ORPHA:397715
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Low-set ears, Clinodactyly of the 5th finger, Cleft palate, Inguinal hernia, Abnorm... ORPHA:397590
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Cerebral berry aneurysm, Mitral regurgitation, Hepatic cysts, Mitral valve prolapse, Polycystic k... OMIM:173900
Lissencephaly 4
Cerebellar hypoplasia, Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephal... OMIM:614019
Phaver Syndrome
Overfolded helix, Depressed nasal bridge, Radioulnar synostosis, Ulnar deviation of finger, Ventr... ORPHA:2876
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:2476
Holoprosencephaly 5
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depress... OMIM:609637
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Ventricular septal defect, Ambiguous genitalia, Anteriorly placed anus, Hypogonad... OMIM:617159
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypoplasia of penis, Bilateral sensorineural hearing impairment... ORPHA:66634
Dextrocardia
Hydrocephalus, Abnormality of the ureter, Congenital hip dislocation, Pancreatic hypoplasia, Abno... ORPHA:1666
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Ambiguous genitalia, Thyroid hyp... ORPHA:2166
Kaufman Oculocerebrofacial Syndrome
High palate, Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Depressed nasal bridge, Cong... OMIM:244450
Isolated Polycystic Liver Disease
Back pain, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Multiple renal cysts,... ORPHA:2924
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Thick cerebral ... OMIM:618677
Mucopolysaccharidosis-Plus Syndrome
Pectus excavatum, Hepatomegaly, Coarse hair, Short neck, Pectus carinatum, Enlarged kidney, Optic... OMIM:617303
Primary Hepatic Neuroendocrine Carcinoma
Elevated alkaline phosphatase of hepatic origin, Increased serum serotonin, Neoplasm of the liver... ORPHA:100085
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Wrinkly Skin Syndrome
High palate, Pectus excavatum, Sparse hair, Muscular ventricular septal defect, Short nail, Osteo... OMIM:278250
Chime Syndrome
Sparse hair, Cleft palate, Depressed nasal ridge, Abnormality of the dentition, Short philtrum, M... ORPHA:3474
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Everted lower lip vermilion, Short philtrum, Anophthalmia, Hypoplasia o... ORPHA:411986
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Low-set ears, Enlarged thorax, Renal hypoplasia/aplasia, Adducted th... ORPHA:2570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Buphthalmos, Pachygyria, Microcephaly... OMIM:613150
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du...