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Gene: Atmin MGI:2682328

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATM interactor
Synonyms:
gpg6,  Asciz

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • 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.

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.

Phenotype associated images not available

Human diseases caused by Atmin 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma OMIM:251505
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right... OMIM:618300
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transposition of the great arteries, Do... OMIM:231060
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Coloboma, Microphthalmia ORPHA:324416
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Thick upper lip vermilion, Thick lower lip vermilion, Short philtrum, Broad philtrum OMIM:600093
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Median cleft palate ORPHA:2432
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... OMIM:166750
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
2Q24 Microdeletion Syndrome
Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia ORPHA:1617
Heart And Brain Malformation Syndrome
Polyhydramnios, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower lip verm... OMIM:616920
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Acalvaria
Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Spina bifida ORPHA:945
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios OMIM:613124
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Partial anomalous pulmonary venous return, Renal cyst, Right aortic arch, In... OMIM:617478
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Bronchiectasis OMIM:617577
22Q11.2 Duplication Syndrome
Micrognathia, Urethral stenosis, Transposition of the great arteries, Interrupted aortic arch, Di... ORPHA:1727
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Coloboma ORPHA:141333
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... ORPHA:860
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Encephalocele, Micromelia, Micrognathia, ... ORPHA:1908
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Velocardiofacial Syndrome
Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence,... OMIM:192430
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma OMIM:610023
Diabetic Embryopathy
Ureteral duplication, Micrognathia, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Spinal dy... ORPHA:1926
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Edema OMIM:616570
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Right aortic arch, Heterotaxy, Pulmonary artery hypoplasia, Interrupted i... OMIM:616749
Frontonasal Dysplasia 1
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Colobom... OMIM:136760
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Fountain Syndrome
Facial edema, Thick lower lip vermilion OMIM:229120
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Short thumb, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary ... ORPHA:1120
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Coloboma, Holoprosencephaly, Torus... OMIM:147250
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... ORPHA:3384
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Right aortic arch, Abdominal situs inversus, Transposition of the great a... OMIM:614779
Microphthalmia, Syndromic 9
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessels, Renal hypo... OMIM:601186
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, High palate, Interrupted aortic arch, Lo... ORPHA:250989
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Pulmonary hypoplasia, Cleft palate OMIM:615524
Skraban-Deardorff Syndrome
Right aortic arch, Hyperplasia of the maxilla, Micrognathia OMIM:617616
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma, H... OMIM:601357
Microphthalmia, Syndromic 13
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Widely-spaced incisors OMIM:300915
Mmep Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft, Cryptorchidism ORPHA:3434
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Microphthalmia OMIM:614583
Gombo Syndrome
Microphthalmia OMIM:233270
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Edema, Polyhydramnios, Cryptorchidism, I... OMIM:267000
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Czeizel-Losonci Syndrome
Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaur... ORPHA:2437
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Micrognathia, Abnormal lung lobation, Hypospadias, Nonimmune hydrops fetalis, Pul... OMIM:265380
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ... ORPHA:1756
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Temtamy Syndrome
Thick lower lip vermilion, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Abnormal palate... ORPHA:1777
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Small hand, Premature coronary artery atherosclerosis, Stroke-like episode, ... OMIM:300845
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch... ORPHA:99050
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent ductus arteriosus, Downturned corners of mouth, Coloboma, Microp... OMIM:618652
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... OMIM:613885
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Aortopulmonary collateral arteries, Right aortic arch, Abdominal situs inv... OMIM:617205
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios ORPHA:3032
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Absent inner dynein arms, Situs inversus totalis, Abnormal axon... OMIM:613807
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Thin vermilion border, Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate ORPHA:2631
Meacham Syndrome
Congenital alveolar dysplasia, Patent ductus arteriosus, Partial anomalous pulmonary venous retur... OMIM:608978
Heterotaxy, Visceral, 4, Autosomal
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... OMIM:613751
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus, Umbilical hernia OMIM:615297
Mosaic Trisomy 9
Hypoplasia of penis, Spina bifida, Micromelia, Micrognathia, Cryptorchidism, Patent ductus arteri... ORPHA:99776
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal d... OMIM:601612
Pierpont Syndrome
Thin upper lip vermilion, Cryptorchidism, Broad philtrum, Thin vermilion border, Widely spaced te... ORPHA:487825
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Intracranial... OMIM:614424
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Spina bifida, Short toe, Dental malocclusion, Abnormality of dental erupti... ORPHA:1327
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Craniofacioskeletal Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Hypoplastic frontal sinuses,... OMIM:300712
Abruzzo-Erickson Syndrome
Cryptorchidism, Cleft palate, Coloboma, Chorioretinal coloboma, Iris coloboma, Abnormal palate mo... ORPHA:921
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Bilateral cleft lip and palate ORPHA:1473
Intellectual Developmental Disorder, X-Linked 19
Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion OMIM:300844
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Lymphedema, Patent ductus arteriosus, Hydrops fetalis, Vascular ring, Hydrocele... OMIM:601927
Kahrizi Syndrome
Thick vermilion border, Iris coloboma OMIM:612713
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Partial anomalous pulmonary ven... OMIM:619702
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Intellectual Developmental Disorder, Autosomal Dominant 67
Recurrent respiratory infections, Thick vermilion border OMIM:619927
Pagod Syndrome
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Situs inversus totalis, Meningocele, P... ORPHA:991
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Optic nerve hypoplasia, Cleft palate, Coloboma, Long ph... OMIM:615583
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Feingold Syndrome Type 1
Renal insufficiency, Micrognathia, Short middle phalanx of the 2nd finger, Short thumb, Patent du... ORPHA:391641
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... OMIM:300400
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... OMIM:612530
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios ORPHA:3033
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Polyhydramnios, Absent radius, Hydrocephalus, Isomerism, Urethral atresia, Transpo... OMIM:314390
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Aplasia/Hypoplasia of the sc... ORPHA:2839
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mic... ORPHA:2326
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Microphthalmia ORPHA:2117
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia OMIM:611561
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Patent ductus arteriosus, ... ORPHA:980
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion OMIM:309545
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia, Polyhydramnios OMIM:617194
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Micromelia ORPHA:63862
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Widely-spaced maxillary central i... OMIM:601349
15Q24 Microdeletion Syndrome
Smooth philtrum, Abnormality of the dentition, Cryptorchidism, Myelomeningocele, Thick lower lip ... ORPHA:94065
Charge Syndrome
Aortic arch aneurysm, Delayed eruption of teeth, Anophthalmia, Polyhydramnios, Cleft upper lip, A... ORPHA:138
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,... OMIM:616898
Hydrolethalus
Anophthalmia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencep... ORPHA:2189
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Chitayat Syndrome
Recurrent respiratory infections, Thick vermilion border, Abnormal pulmonary interstitial morphol... OMIM:617180
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Recurrent respiratory infections, Short femur, Abnormal mitochondrial shape, Hypos... ORPHA:17
Oculogastrointestinal Neurodevelopmental Syndrome
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Recurrent respiratory infections, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Acromegaloid Facial Appearance Syndrome
Deep philtrum, Thick vermilion border OMIM:102150
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Persistence of primary teeth, Thick lower lip vermilion, Overjet, High palate, S... OMIM:618342
Intellectual Developmental Disorder, X-Linked 109
Long upper lip, Thick vermilion border OMIM:309548
Joubert Syndrome 16
Encephalocele, Coloboma OMIM:614465
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Narrow mouth ORPHA:3469
Nanophthalmos
Microphthalmia ORPHA:35612
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Thick vermilion border, Narrow mouth OMIM:617564
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Transposition of... OMIM:616789
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Horseshoe ki... OMIM:614846
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, Cryptorchidism, Patent ductus arter... ORPHA:3378
Pierpont Syndrome
Cryptorchidism, Broad philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spa... OMIM:602342
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Hydrops fetalis, Short ribs, Preductal c... OMIM:215045
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short finger, Short 5th meta... OMIM:604381
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Polyhydramnios, Cryptorchidism, Non-midline cleft l... ORPHA:2059
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Cdkl5-Deficiency Disorder
Deep philtrum, Everted lower lip vermilion, Thick vermilion border ORPHA:505652
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Alazami Syndrome
Wide mouth, Retractile testis, Thick vermilion border, Short philtrum, Widely spaced teeth OMIM:615071
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Sh... ORPHA:163979
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Left superior vena cava draining to... OMIM:611961
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Abnormal lung lobation, Orofacial cleft, Ap... ORPHA:3301
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Exaggerated cupid's bow, Cryptorchidism, Patent ductus arteriosus, Wide mouth, Coloboma, Narrow m... OMIM:618659
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Diastema, Cryptorchidism, Patent ductus arteriosus, Downturned corners ... ORPHA:329224
Ectodermal Dysplasia 14, Hair/Tooth Type, With Or Without Hypohidrosis
Thick vermilion border, Hypodontia, Conical tooth OMIM:618180
Fountain Syndrome
Craniofacial hyperostosis, Spina bifida, Facial edema, Spina bifida occulta, Short distal phalanx... ORPHA:3219
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metacarpal ORPHA:228190
Cardiac-Urogenital Syndrome
Unilateral cryptorchidism, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Partia... OMIM:618280
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Micrognathia, Polyhydramnios, Cryptorchidism, Aqueductal ste... ORPHA:3412
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Nanophthalmos 4
Microphthalmia OMIM:615972
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma, Cryptorchidism OMIM:601794
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... ORPHA:2334
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef... ORPHA:2712
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Developmental And Epileptic Encephalopathy 61
Thick vermilion border, High palate, Open mouth OMIM:617933
Renpenning Syndrome
Mandibular prognathia, Hypospadias, Heterotaxy, Malar flattening, Decreased testicular size ORPHA:3242
Leukodystrophy, Hypomyelinating, 17
Thick vermilion border, Widely spaced teeth, Gingival overgrowth OMIM:618006
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Patent ductus arteriosus, Widely spaced teeth, Deep philtrum OMIM:619717
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Developmental And Epileptic Encephalopathy 23
Thick vermilion border, Everted lower lip vermilion, Short philtrum OMIM:615859
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronch... OMIM:618254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Coloboma OMIM:613153
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Ve... OMIM:274000
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Thick ... ORPHA:1810
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Intellectual Developmental Disorder, Autosomal Dominant 26
Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth, Umbilical hernia OMIM:615834
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Orofacial cl... OMIM:243310
Agnathia-Otocephaly Complex
Polyhydramnios, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplasia, Holoprosenc... OMIM:202650
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Absent uvula OMIM:616531
Distal Triplication 15Q
Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Horseshoe kidney,... ORPHA:314588
Congenital Tracheomalacia
Pneumonia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pneumothorax, Bro... ORPHA:95430
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow OMIM:618506
Acropectorovertebral Dysplasia
Spina bifida, Short distal phalanx of finger ORPHA:957
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... ORPHA:411986
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula OMIM:618658
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Thick vermilion border, Lymphedema ORPHA:3137
Alg3-Cdg
Coarctation of the descending aortic arch, Macroglossia, Neural tube defect, High palate, Pulmona... ORPHA:79321
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the g... OMIM:600001
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Myelomeningocele, Absent vertebra, Anenc... ORPHA:63259
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Thick vermilion border, Long philtrum ORPHA:251076
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Monosomy 18P
Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia,... ORPHA:1598
Fraxe Intellectual Disability
Thick vermilion border ORPHA:100973
Branchio-Oculo-Facial Syndrome
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, Coloboma, High palate, Eve... ORPHA:1297
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, High, narrow palate, Incisor macrodontia, Thick vermilion border, Sho... ORPHA:166108
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Abnormal dental enamel morphology, Spina bifida, Patent ductus arte... ORPHA:2092
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Mic... OMIM:241800
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Pontocerebellar Hypoplasia, Type 11
Coloboma, Recurrent respiratory infections OMIM:617695
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Joubert Syndrome 10
Deep philtrum, Thick vermilion border OMIM:300804
Amish Lethal Microcephaly
Organic aciduria, Spina bifida, Micrognathia ORPHA:99742
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... ORPHA:1193
Xq25 Microduplication Syndrome
Thick vermilion border ORPHA:521258
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Coloboma, Microphth... ORPHA:370959
Neu-Laxova Syndrome 2
Edema, Polyhydramnios, Spina bifida, Micrognathia OMIM:616038
Intellectual Developmental Disorder, X-Linked 9
Thick lower lip vermilion OMIM:309549
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the g... ORPHA:2255
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Micrognathia, Atelectasis, Patent ductus arterios... OMIM:188400
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Coloboma, Microphthalmia OMIM:610125
48,Xyyy Syndrome
Thick lower lip vermilion, Recurrent upper respiratory tract infections, Irregularly spaced teeth... ORPHA:99329
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Conical tooth, Abnormality of the dentition, Cryptorchidism, Microphthalmia, Broad... ORPHA:228390
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Cryptorchidism, High, narrow palate, Increased nuchal translucency, Cle... OMIM:618494
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Aplasia/Hypoplasia of the ribs, Hypospadias, Spina bifi... ORPHA:508498
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy... OMIM:617022
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Gingival overgrowth, Coloboma, Thin vermilion border, Long philtrum ORPHA:464288
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Vesicouret... ORPHA:567
Short Stature-Wormian Bones-Dextrocardia Syndrome
Short stature, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Anterior hypopituitarism ORPHA:2863
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Thick vermilion border, Holoprosencephaly, Pulmonary h... ORPHA:250999
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Cleft palate, Wide mouth, M... OMIM:614607
Waardenburg Syndrome Type 1
Mandibular prognathia, Meningocele, Spina bifida ORPHA:894
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Brunet-Wagner Neurodevelopmental Syndrome
Thick vermilion border OMIM:619690
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion ORPHA:1466
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Patent ductus arteriosus, Anomalous ... ORPHA:1330
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial... OMIM:612541
Ring Chromosome 22 Syndrome
Edema, Lymphedema, Protruding tongue, Thick vermilion border, Pleural effusion ORPHA:1446
Coffin-Siris Syndrome 8
Cryptorchidism, Thick lower lip vermilion, Thin upper lip vermilion OMIM:618362
Phaver Syndrome
Short thumb, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery at... ORPHA:2876
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema, Cryptorchidism, Unilateral renal hypoplasia, Hemiatrophy ORPHA:2874
Feingold Syndrome 1
Polyhydramnios, Patent ductus arteriosus, Everted lower lip vermilion, High palate, Interrupted a... OMIM:164280
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:208530
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Crypto... OMIM:619148
Mehmo Syndrome
Downturned corners of mouth, Cryptorchidism, Thick vermilion border ORPHA:85282
Intellectual Developmental Disorder, X-Linked 106
Thin upper lip vermilion, Cryptorchidism, Thick vermilion border, Open mouth, Decreased testicula... OMIM:300997
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Recurrent respiratory infections, Macrodontia, Edema, High palate, Shor... OMIM:618606
Intellectual Disability, Wolff Type
Cryptorchidism, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft ORPHA:3080
Temtamy Syndrome
Dental crowding, Hypoplasia of teeth, Chorioretinal coloboma, Long philtrum, Microphthalmia, Iris... OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Coloboma, Abnormally large globe OMIM:615249
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Widely-spaced maxillary central incisors, Thick lower lip vermilion, Short philtrum OMIM:608227
Microcephaly 17, Primary, Autosomal Recessive
Thick vermilion border OMIM:617090
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Cleft palate, Coloboma, Double outlet right ventricle, Tetralogy of Fallot OMIM:220210
Double Outlet Right Ventricle
Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Pulmonary artery atresia, Truncu... ORPHA:3426
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, High palate, Pulmonary hypoplasia OMIM:255320
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermilion, Long philtrum, Mi... OMIM:152950
Pontocerebellar Hypoplasia, Type 1F
Thick vermilion border, Smooth philtrum, Long philtrum OMIM:619304
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Microphthalmia, High palate, Cleft palate ORPHA:1135
Trisomy 20P
Hypospadias, Spina bifida, Micrognathia, Cryptorchidism, Abnormality of the ureter, Multiple rena... ORPHA:261318
Acromicric Dysplasia
Long philtrum, Deep philtrum, Thick lower lip vermilion, Narrow mouth OMIM:102370
Warburg Micro Syndrome 1
Microphthalmia, Thin vermilion border, Narrow mouth, Cryptorchidism OMIM:600118
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Conical tooth, Oligodontia, Thick vermilion border, Everted lower li... OMIM:224900
Neu-Laxova Syndrome
Spina bifida, Micromelia, Micrognathia, Trismus, Polyhydramnios, Pulmonary hypoplasia, Retrognathia ORPHA:2671
Terminal Osseous Dysplasia
Cleft palate, Thick vermilion border, Iris coloboma, Accessory oral frenulum OMIM:300244
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... OMIM:200990
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Hydranen... ORPHA:1393
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Cryptorchidism, Recurrent pneumonia, Dehydration, Thin ... OMIM:214150
Encephalopathy Due To Sulfite Oxidase Deficiency
Thick vermilion border, Long philtrum ORPHA:833
Syndromic Diarrhea
Lymphopenia, Bicuspid aortic valve, Short stature, Ventricular septal defect, Increased mean plat... ORPHA:84064
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... ORPHA:420561
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Pulmonary hypoplasia OMIM:619003
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Macs Syndrome
Irregular dentition, Dilation of Virchow-Robin spaces, Palpebral edema, Cryptorchidism, Gingival ... OMIM:613075
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia ORPHA:3346
Coffin-Siris Syndrome 3
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... OMIM:614608
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Myelomeningocele, Absent foot, Ho... ORPHA:93929
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphedema, Pate... OMIM:153400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Intrauterine growth retardation, Hypoplasia of the thymus, Abnormal heart morphology OMIM:214110
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Cleft palate, Microphthalmia OMIM:603194
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Microphthalmia, Iris colobom... ORPHA:85284
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Microph... ORPHA:77298
Braddock-Carey Syndrome 2
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate OMIM:619981
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Right atrial isomerism, Bilateral trilobed lung, Polyhydramnios, Aqueducta... OMIM:306955
Zimmermann-Laband Syndrome 2
Macroglossia, Deep philtrum, Thick vermilion border, Gingival overgrowth OMIM:616455
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Anterior Segment Dysgenesis 2
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia OMIM:610256
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Ascites ORPHA:858
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia OMIM:611134
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Edema, Pulmonary edema OMIM:267450
Achondrogenesis Type 2
Pierre-Robin sequence, Pulmonary hypoplasia, Edema ORPHA:93296
Developmental And Epileptic Encephalopathy 91
Thick vermilion border, Short philtrum OMIM:617711
Temple-Baraitser Syndrome
Downturned corners of mouth, Wide mouth, Thick vermilion border, Long philtrum OMIM:611816
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pulmonary hypoplasia OMIM:618174
Hengel-Maroofian-Schols Syndrome
Thick vermilion border, Short philtrum, Widely spaced teeth, Everted lower lip vermilion, Tooth m... OMIM:619641
Lipoid Proteinosis
Recurrent respiratory infections, Abnormal oral mucosa morphology, Abnormality of the gingiva, Th... ORPHA:530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Smooth philtrum OMIM:602501
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum, Thick vermilion borde... ORPHA:137834
Thoracoabdominal Syndrome
Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transpositio... OMIM:313850
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Abnormality of the dentition, Cryptorchidism, Patent ductus arteriosus,... OMIM:179613
Luo-Schoch-Yamamoto Syndrome
Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar... OMIM:619460
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Multiple Pterygium Syndrome, X-Linked
Edema, Polyhydramnios, Cleft upper lip, Cleft palate, Pulmonary hypoplasia OMIM:312150
Srd5A3-Cdg
Coloboma, Oligodontia, Optic disc hypoplasia ORPHA:324737
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Defective DNA repair af... OMIM:278760
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Recurrent respiratory infections, Exaggerated cupid's bow, Cryptorchidi... OMIM:618316
Li-Ghorbani-Weisz-Hubshman Syndrome
Downturned corners of mouth, Patent ductus arteriosus, Thick vermilion border OMIM:618974
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Tented upper lip vermilion, Exaggerated cupid's bow, Gingival overgrowth, Macroglossia, Thick ver... OMIM:616900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners ... ORPHA:453499
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Hydrocephalus, Abnormal lung lobation, Cleft palate, Orofacial cle... ORPHA:2166
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Hypoplas... ORPHA:1110
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Aortic isthmus... OMIM:180849
Cantu Syndrome
Lymphedema, Pericardial effusion, Patent ductus arteriosus, Thick lower lip vermilion, Gingival o... OMIM:239850
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Thin verm... ORPHA:2701
Joubert Syndrome 23
Coloboma OMIM:616490
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma OMIM:167730
Nasopalpebral Lipoma-Coloboma Syndrome
Recurrent upper respiratory tract infections, Microphthalmia, Bilateral microphthalmos, Coloboma ORPHA:2399
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Iris coloboma, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Abnormal cerebral vas... ORPHA:363705
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal... OMIM:607597
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteri... OMIM:227646
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... OMIM:616354
Chromosome Xq25 Duplication Syndrome
Thick vermilion border OMIM:300979
Hadziselimovic Syndrome
Thick lower lip vermilion, High palate, Pulmonary artery atresia, U-Shaped upper lip vermilion, T... OMIM:612946
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus, Polyhydramnios ORPHA:2547
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Thick lower lip verm... ORPHA:137634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Hydrocephalus OMIM:613155
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Wide mouth, Coloboma, Vascular dilatation OMIM:216360
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios, Cleft palate ORPHA:261272
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Edema OMIM:253310
Fanconi Anemia
Micrognathia, Hypoplasia of the ulna, Hypospadias, Spina bifida, Cryptorchidism, Patent ductus ar... ORPHA:84
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux OMIM:617660
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Cleft palate, Microphthalmia, Iris coloboma ORPHA:1791
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Renal hypoplasia, Venous malformation, Spinal dysraphism OMIM:612918
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Vascular ring OMIM:603387
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni... OMIM:265300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma, Cryptorchidism ORPHA:363741
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Spina bifida occulta, Iris coloboma OMIM:169550
Kapur-Toriello Syndrome
Patent ductus arteriosus, Orofacial cleft, Retinal coloboma, Microphthalmia, Tetralogy of Fallot,... ORPHA:2328
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Trisomy 18
Microretrognathia, Spina bifida, Cryptorchidism, Anencephaly, Holoprosencephaly, Hydronephrosis, ... ORPHA:3380
Hallermann-Streiff Syndrome
Natal tooth, Recurrent respiratory infections, Spina bifida, Micrognathia, Cryptorchidism, Supern... OMIM:234100
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Long ph... OMIM:619880
Campomelic Dysplasia
11 pairs of ribs, Absent sternal ossification, Hypoplastic scapulae, Hypospadias, Spina bifida, M... OMIM:114290
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Bilobed right lung, Anencephaly, Cleft p... OMIM:612284
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, W... OMIM:619797
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Coloboma OMIM:612379
Charge Syndrome
Polyhydramnios, Micrognathia, Hand monodactyly, Holoprosencephaly, Pulmonary artery atresia, Micr... OMIM:214800
Hypomelanosis Of Ito
Thick lower lip vermilion, Iris coloboma, Irregularly spaced teeth OMIM:300337
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Micrognathia, Hypoplasia of the maxilla, E... OMIM:164210
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Short foot, Hydrocele testis, Short palm, Umbilical hernia, Oligohyd... OMIM:613776
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Pseudotrisomy 13 Syndrome
Encephalocele, Cleft upper lip, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Holoprosence... OMIM:264480
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Bronchiectasis OMIM:614679
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Patellar aplasia, Patellar hy... OMIM:161200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Cryptorchidis... ORPHA:251028
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Tetralogy of Fallot, Long philtrum OMIM:300887
Isotretinoin-Like Syndrome
Micrognathia, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotrunc... ORPHA:2306
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia, Polyhydramnios OMIM:616867
Gracile Bone Dysplasia
Hydrocephalus, Aniridia, Microphthalmia, Ascites, Ankyloglossia OMIM:602361
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Microphthalmia, Oligohydra... OMIM:251230
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Downturned corners of mouth, Open mouth, Recurrent upper respiratory tract infections, Thick verm... ORPHA:391372
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Spontaneous neonatal pneumothorax, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosi... OMIM:225410
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Coloboma, Ana... OMIM:618183
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, High palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:139471
Intellectual Developmental Disorder With Seizures And Language Delay
Thick lower lip vermilion OMIM:619000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Accessory oral frenulum, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops... OMIM:616546
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia ... OMIM:613177
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... ORPHA:1942
Serkal Syndrome
Pulmonary hypoplasia, Orofacial cleft, Oligohydramnios ORPHA:139466
Spastic Paraplegia 52, Autosomal Recessive
Wide mouth, Thick vermilion border, High palate, Short philtrum OMIM:614067
Char Syndrome
Persistence of primary teeth, No permanent dentition, Patent ductus arteriosus, Thick vermilion b... ORPHA:46627
Trisomy 17P
Patent ductus arteriosus, Hydrocephalus, Orofacial cleft, Cleft palate, Wide mouth, Macroglossia,... ORPHA:261290
Ulnar Hemimelia
Hypoplastic scapulae, Hand oligodactyly, Aplasia of metacarpal bones, Upper limb phocomelia, Hemi... ORPHA:93320
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Microphthalmia, Widely spaced teeth OMIM:619694
Neu-Laxova Syndrome 1
Hydranencephaly, Micromelia, Micrognathia, Spina bifida, Cryptorchidism, Patent ductus arteriosus... OMIM:256520
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Dental crowding, Pulmonary hypoplasia OMIM:617468
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Predominantly lower limb lymphedema, Patent ductus arter... ORPHA:293939
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
2Q31.1 Microdeletion Syndrome
Cryptorchidism, Deep philtrum, Optic disc coloboma, Cleft palate, Downturned corners of mouth, Co... ORPHA:251014
Matthew-Wood Syndrome
Microphthalmia, Abnormal lung morphology, Anophthalmia, Pulmonary hypoplasia ORPHA:2470
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Short stature, Hypergonadotropic hypogonadism, Cryptorch... OMIM:227645
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Macular coloboma, Iris coloboma, Long philtrum OMIM:615145
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Microphthalmia, Short philtrum ORPHA:93267
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Patent ductus arteriosus, Abnormality of the pulm... ORPHA:290
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Oligohydramnios OMIM:616733
Recombinant 8 Syndrome
Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Pulmonary artery stenosis, Patent ... ORPHA:96167
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polyhydramnios, Thick lower lip vermilion, Wide mouth, Open mouth, Thick upper lip vermilion OMIM:611087
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Meningoencephal... OMIM:236670
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Kapur-Toriello Syndrome
Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Retinal coloboma, Microp... OMIM:244300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Cryptorchidism, Deep philtrum, Cleft palate, Downturned corners of mout... ORPHA:404440
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Hypospadias, Spina bifida, Ectopic kidney, Absent radius,... OMIM:192350
Frontorhiny
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid... ORPHA:391474
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Abno... ORPHA:2257
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia OMIM:614105
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Thick lower lip vermilion, Downturned... OMIM:618950
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Mosaic Trisomy 1
Polyhydramnios, Increased nuchal translucency, Thick lower lip vermilion, Orofacial cleft, Coarct... ORPHA:1692
Holoprosencephaly
Anophthalmia, Deep philtrum, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma, Encephaloc... ORPHA:2162
Jacobsen Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Spina bifida, Missing ribs, Crypt... ORPHA:2308
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ... OMIM:620098
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Abnormal lung lobation, Pulmonary hypoplasia, Smooth philtrum, Oligohydramnios OMIM:263210
Thanatophoric Dysplasia
Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Hydrocephalus, Pulmonary... ORPHA:2655
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:212550
Monosomy 18Q
Mandibular prognathia, Bilateral cryptorchidism, Left aortic arch with right descending aorta and... ORPHA:1600
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Pulmonary hypoplasia... OMIM:611812
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Meckel Syndrome 14
Occipital encephalocele, Increased nuchal translucency, Pneumothorax, Pulmonary hypoplasia, Holop... OMIM:619879
Lumbar Syndrome
Hypospadias, Spina bifida, Cryptorchidism, Myelomeningocele, Vesicoureteral reflux, Micropenis, B... ORPHA:83628
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Polyhydramnios, Thick lower lip vermilion, Downturned corners of mouth,... OMIM:618027
Pentalogy Of Cantrell
Encephalocele, Non-midline cleft lip, Hydrocephalus, Anencephaly, Cleft palate, Orofacial cleft, ... ORPHA:1335
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Cleft ... OMIM:616300
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Thin upper lip vermilion, Optic nerve hypoplasia, Polyhydramnios, Cryptorchidism... OMIM:617506
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hall-Riggs Syndrome
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... OMIM:234250
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Re... OMIM:600901
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Narrow mouth ORPHA:969
Braddock-Carey Syndrome 1
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, U-Shape... OMIM:619980
Marden-Walker Syndrome
High, narrow palate, Cleft palate, High palate, Pulmonary hypoplasia, Narrow mouth, Microphthalmi... OMIM:248700
Fibular Hemimelia
Short femur, Spina bifida, Short toe, Fibular hypoplasia, Proximal femoral focal deficiency, Foot... ORPHA:93323
48,Xxyy Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dental enamel morphology, O... ORPHA:10
Man1B1-Cdg
Thin upper lip vermilion, Thick vermilion border, Short philtrum, Eclabion, Smooth philtrum ORPHA:397941
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Atrial septal defect, Anemia OMIM:618067
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion OMIM:300558
Intellectual Developmental Disorder, Autosomal Recessive 45
Thick vermilion border OMIM:615979
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Dextrocardia
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abnormal lung lob... ORPHA:1666
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Orofacial cleft, Coarctation of aorta, Chorioretinal coloboma, Mi... ORPHA:268249
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Noonan Syndrome 11
Thick vermilion border OMIM:618499
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Hydrocele tes... OMIM:137940
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Hypoplasia of teeth, Wide mouth, Thick vermilion border, Short philtrum, Hypodonti... OMIM:620250
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Palpebral edema, Patent ductus arteriosus, Deep philtrum, Macroglossia, High pal... ORPHA:397709
Fetal Alcohol Syndrome
Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Microphthalmia, Smoot... ORPHA:1915
Momo Syndrome
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... ORPHA:2563
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Recurrent respiratory infections, Hypospadias, Pneumonia, Carious teeth, Cryptorchid... ORPHA:353281
Fanconi Anemia, Complementation Group S
Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion OMIM:617883
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Cryptorchidism, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia ORPHA:2505
Ring Chromosome 10 Syndrome
Microphthalmia, Thin vermilion border, Long philtrum ORPHA:1438
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Myeloschisis, Neurogenic bladder, Tethered cord, Myelomeningocele, Meningo... OMIM:600145
Neuropathy, Congenital Hypomyelinating, 3
Polyhydramnios, Gingival overgrowth, Narrow palate, Thick vermilion border, High palate OMIM:618186
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Ectodermal Dysplasia 13, Hair/Tooth Type
Oligodontia, Thick vermilion border OMIM:617392
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip, Alobar holo... OMIM:610828
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Recurrent respiratory infections, Renal insufficiency, Edema, Polyhydramnios, Situs i... OMIM:619534
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Patent ductus arteriosus, Deep philtrum, Cleft pal... ORPHA:435638
Marcus-Gunn Syndrome
Cleft lip, Coloboma, Cleft palate ORPHA:91412
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Re... OMIM:227650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Open bite, Cry... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Open bite, Cry... ORPHA:352665
Tonne-Kalscheuer Syndrome
Cryptorchidism, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, P... OMIM:300978
Ataxia-Telangiectasia
Diabetes mellitus, Short stature, Female hypogonadism, Bronchiectasis, Acute lymphoblastic leukem... OMIM:208900
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Coloboma OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Congenital pulm... ORPHA:436252
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Hydrops fetalis, Cleft palate, Agenesis of permanent teeth, ... OMIM:614091
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Fg Syndrome Type 1
Dental crowding, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Wid... ORPHA:93932
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Abnormality of the spleen, Abnormal cardiac septum morphology, Tracheoesophage... ORPHA:93941
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, Interrupte... OMIM:206920
Keipert Syndrome
Downturned corners of mouth, Exaggerated cupid's bow, Thick upper lip vermilion OMIM:301026
Seckel Syndrome 2
Microdontia, Microphthalmia, Microglossia OMIM:606744
Renal Agenesis, Bilateral
Non-midline cleft lip, Cleft palate, Sirenomelia, Pulmonary hypoplasia, Oligohydramnios ORPHA:1848
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma, Long philtrum OMIM:615877
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Oligohydramnios OMIM:619053
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Shor... OMIM:616449
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Tented upper lip vermilion, Thick vermilion border, High palate... OMIM:619383
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Retinal coloboma, Long philt... OMIM:618571
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Dental crowding, Patent ductus arteriosus, Oligodontia, High palate, Sh... OMIM:617061
Coffin-Siris Syndrome 5
Wide mouth, Thin upper lip vermilion, Thick lower lip vermilion, Short philtrum OMIM:616938
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Thick lower lip vermilion, Tented upper lip vermilion OMIM:619854
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Micrognathia, Emphysema, Microre... OMIM:619472
Spondylo-Ocular Syndrome
Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum ORPHA:85194
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Wide mouth, High, narrow palate, Thick lower lip vermilion OMIM:617268
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fis... ORPHA:861
3Q29 Microduplication Syndrome
Abnormality of the dentition, Deep philtrum, Cleft palate, High palate, Aniridia, Microphthalmia,... ORPHA:251038
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth ORPHA:457365
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Cleft palate, Unilateral cleft lip, Pulmonary hypoplasia, Pleura... OMIM:616897
Bartsocas-Papas Syndrome 2
Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate OMIM:619339
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Ascites, Arteriovenous malformation, Pulmonary artery atresia, Micr... ORPHA:974
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Micrognathia, Facial edema, Lymphedema, Polyhydr... OMIM:616843
Focal Facial Dermal Dysplasia Type I
Downturned corners of mouth, Thick upper lip vermilion ORPHA:79133
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Cleft palate ORPHA:85166
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Short stature, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus ... OMIM:277380
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Pulmonary hypoplasia, Cleft palate, Edema OMIM:253290
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Meckel Syndrome, Type 1
Smooth philtrum, Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Cleft upper lip,... OMIM:249000
Oligomeganephronia
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... ORPHA:2260
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Thin upper lip vermilion, Patent ductus arteriosus, Thick lower lip vermilion, Gingival overgrowt... OMIM:220500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Pulmonary hypoplasia, Oligohydramnios OMIM:236500
Split Cord Malformation
Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner... ORPHA:573278
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Ever... OMIM:620075
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum ORPHA:163966
Gaucher Disease, Type Ii
Bronchiolitis, Trismus, Recurrent aspiration pneumonia, Double aortic arch OMIM:230900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Short stature, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Parti... OMIM:619657
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, High palate, Thick vermilion border, Pulmonary artery atresia, Smooth p... OMIM:620113
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris coloboma, Median cleft lip... OMIM:184705
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,... OMIM:618874
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Hypospadias, Testicular neoplasm, Spina bifida, Cryptorchidism,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Hypospadias, Testicular neoplasm, Spina bifida, Cryptorchidism,... ORPHA:363958
Intellectual Disability-Strabismus Syndrome
Polyhydramnios, Abnormality of the dentition, Cryptorchidism, Patent ductus arteriosus, Wide mout... ORPHA:363528
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Spina bifida occulta, Thick vermilion border ORPHA:1185
Kabuki Syndrome
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Cryptorchidism, Hydrocephalus,... ORPHA:2322
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Polyhydramnios ORPHA:1486
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Macrodont... ORPHA:364028
Limb Body Wall Complex
Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida, Myelomeningoc... ORPHA:2369
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Bronchiectasis OMIM:606763
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Retinal coloboma, Open mouth, Pulmonary artery stenosis, Thick lower l... OMIM:280000
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Noonan Syndrome 5
Wide mouth, Cryptorchidism, Thick vermilion border, Polyhydramnios OMIM:611553
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Oligohydramnios OMIM:267430
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Oligohydramnios OMIM:614219
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Hydrocele testis, Aortic root aneurysm, P... OMIM:145420
Congenital Myopathy 17
Tented upper lip vermilion, Polyhydramnios, Respiratory tract infection, Dental malocclusion, Cle... OMIM:618975
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Hamartoma of tongue, Edema, Polyhydramnios, Atelectasis, Patent du... OMIM:269860
Nance-Horan Syndrome
Microphthalmia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Spina bifida, Hydrocephalus, Short ribs, Short distal phalanx of the thumb... OMIM:109400
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Dental crowding, High, narrow palate, Wide mouth, Thick vermilion borde... OMIM:619312
Esophageal Atresia
Recurrent respiratory infections, Polyhydramnios, Bronchitis, Cleft lip, Cleft palate, Coarctatio... ORPHA:1199
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Cleft palate, Thick vermilion border, Short philtrum, Narrow mouth ORPHA:447980
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Double outlet right ventricle with doubl... ORPHA:1596
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Cryptorchidi... ORPHA:568
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Thick lower lip vermilion OMIM:300238
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Micrognathia, Cervical cord compression, Vesicoureteral reflux, Hypospadias, Cryp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Micrognathia, Cervical cord compression, Vesicoureteral reflux, Hypospadias, Cryp... ORPHA:353277
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Delayed eruption of teeth, Patent ductus arteriosus, Gingival overgrowth, G... OMIM:135500
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,... OMIM:270100
Phace Association
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... OMIM:606519
Cat Eye Syndrome
Patent ductus arteriosus, Cleft palate, Umbilical hernia, Total anomalous pulmonary venous return... OMIM:115470
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphth... ORPHA:899
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Alazami Syndrome
Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth ORPHA:319671
Diets-Jongmans Syndrome
Hypospadias, Polyhydramnios, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azyg... OMIM:618846
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal penis morphology, Hypospadias, Epispadias, Exencephaly ORPHA:2211
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Microphthalmia ORPHA:163649
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Cryptorchidism, Patent ductus arte... ORPHA:2962
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia, Oligohydramnios OMIM:602088
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Cardiac Valvular Dysplasia 1
Hydroureter, Edema, Arteria lusoria, Hydrops fetalis, Left aortic arch with cervical origin of th... OMIM:212093
Waardenburg Syndrome, Type 1
Mandibular prognathia, Myelomeningocele, Spina bifida OMIM:193500
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism, Narrow philtrum, Thick lower lip vermilion, Wide mouth, Long philtrum, Thick uppe... ORPHA:163654
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Malar flattening, Carpal bone hypoplasia, Spinal dysraphism OMIM:603546
Pallister-Hall Syndrome
Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cryptorchidism, Patent duc... OMIM:146510
Vulto-Van Silfhout-De Vries Syndrome
Thick lower lip vermilion, Tented upper lip vermilion, High palate OMIM:615828
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Median cleft lip, Orofacial cleft, Holoprosencephaly, Microphthalmia, Cyclopia,... ORPHA:3186
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Th... OMIM:617360
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Wide mouth, Thick vermilion border ORPHA:85290
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Downturned corners of mouth, Macroglossia, Wide mouth, ... ORPHA:369891
Vacterl/Vater Association
Occipital encephalocele, Cryptorchidism, Anencephaly, Tracheoesophageal fistula, Aplasia/Hypoplas... ORPHA:887
Cree Mental Retardation Syndrome
Cryptorchidism, Cleft soft palate, Coloboma OMIM:606851
Ritscher-Schinzel Syndrome 3
Microphthalmia, Thin upper lip vermilion, Chorioretinal coloboma, Cryptorchidism OMIM:619135
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Trichothiodystrophy
Ventricular septal defect, Recurrent bronchopulmonary infections, Cryptorchidism, Increased mean ... ORPHA:33364
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Abnormality of dental color, Coarctation of aorta OMIM:163200
Intellectual Developmental Disorder, Autosomal Dominant 65
Tented upper lip vermilion, Noncommunicating hydrocephalus, Downturned corners of mouth, Short ph... OMIM:619320
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... ORPHA:2107
Curry-Jones Syndrome
Lip pit, Lipomyelomeningocele, Microphthalmia, Occipital meningocele, Iris coloboma OMIM:601707
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypospadias, Hypoplastic aortic arch, Short lower limbs, Oligoh... ORPHA:261311
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum OMIM:619435
Frontonasal Dysplasia 2
Encephalocele, Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broa... OMIM:613451
Prognathism, Mandibular
Thick lower lip vermilion OMIM:176700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia... ORPHA:1865
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Joubert Syndrome 37
Microphthalmia, High palate, Decreased testicular size, Cryptorchidism OMIM:619185
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Thick vermilion border OMIM:619827
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Moebius Syndrome
Decreased testicular size, Abnormality of the dentition, High palate, Microphthalmia, Bifid uvula OMIM:157900
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Recurrent respiratory infections, Abnormality of the dentition ORPHA:1806
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Cleft palate, Hydrocele testis, Thick vermilion border, High palate, Sh... OMIM:619493
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Patent ductus arteriosus, Orofacial cleft, High pa... ORPHA:65286
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Patent ductus arterios... OMIM:206900
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Cryptorchidism ORPHA:494344
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Abnormal lung lobation, Pulmonary hypoplasia, Truncus arteriosus, Oligohy... OMIM:615415
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Cryptorchidism, Thin vermilion border, Long philtrum, Microphthalmia, B... OMIM:241410
Otopalatodigital Syndrome, Type Ii
Short metacarpal, Hypospadias, Short hallux, Micrognathia, Spina bifida, Short thumb, Cryptorchid... OMIM:304120
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... OMIM:602450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... OMIM:613150
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Congenital Tracheal Stenosis
Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal lun... ORPHA:141127
Cutis Laxa, Autosomal Recessive, Type Iie
Thick lower lip vermilion, High palate, Long philtrum OMIM:619451
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, High palate, Pulmonary hypoplasia, Narrow mouth, Oligohydramnios OMIM:616866
Geleophysic Dysplasia 3
Thick vermilion border, Pneumonia, Polyhydramnios, Long philtrum OMIM:617809
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Cleft palate OMIM:256050
Focal Facial Dermal Dysplasia 3, Setleis Type
Thick upper lip vermilion OMIM:227260
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Tethered cord, Spina bifida, Coarctation of aorta OMIM:619480
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Cleft soft palate, Smooth philtrum OMIM:614526
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifid... OMIM:613686
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Cryptorchidism, Wide mouth, Thick vermilion border, High palate, Long phi... ORPHA:261250
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Cryptorchidism, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Coloboma, High... OMIM:603457
Fetal Akinesia Deformation Sequence
Polyhydramnios, Pulmonary hypoplasia, Cleft palate ORPHA:994
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Hypoplasia of the primary teeth, Dental malocclusion,... OMIM:257850
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Uruguay Faciocardiomusculoskeletal Syndrome
Everted lower lip vermilion, Thick vermilion border OMIM:300280
Trichothiodystrophy 3, Photosensitive
Natal tooth, Bilateral cryptorchidism, Carious teeth, Eclabion, Microphthalmia OMIM:616395
Hurler-Scheie Syndrome
Recurrent respiratory infections, Umbilical hernia, Thick vermilion border OMIM:607015
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Short stature, Ventricular septal defect, Dextrocardia, Cryptorchidism, Growth... OMIM:614294
Aicardi Syndrome
Prominence of the premaxilla, Recurrent pneumonia, Spina bifida, Missing ribs OMIM:304050
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Narrow mouth, Pulmonary hypoplasia, Cryptorchidism OMIM:224410
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... ORPHA:193
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo... OMIM:619184
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Pulmonary hypoplasia, Long philtrum,... OMIM:184260
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida OMIM:162200
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Patent ductus arteriosus, Cryptorchidism, Furrowed tongue, Coloboma, High palate, Broa... OMIM:616975
8Q24.3 Microdeletion Syndrome
Microretrognathia, Branchial cyst, Short femur, Micromelia, Short hallux, Unilateral renal agenes... ORPHA:508488
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Persistence of ... OMIM:300166
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Thick vermilion border, Widely spaced teeth OMIM:617102
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Hyperplasia of the maxilla, Micrognathia ORPHA:513456
Warburg Micro Syndrome 4
Narrow mouth, Cryptorchidism, Long philtrum, Microphthalmia, Decreased testicular size OMIM:615663
Renpenning Syndrome 1
Thin upper lip vermilion, Macrodontia, Situs inversus totalis, Cleft palate, Coloboma, High palat... OMIM:309500
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Developmental And Epileptic Encephalopathy 64
Thin upper lip vermilion, Thick lower lip vermilion, Widely spaced teeth, Long philtrum, Smooth p... OMIM:618004
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypo... OMIM:273395
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Oligohydramnios OMIM:191830
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Trache... ORPHA:3348
Exstrophy-Epispadias Complex
Renal insufficiency, Urinary incontinence, Spina bifida, Cryptorchidism, Epispadias, Cystocele, A... ORPHA:322
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Cryptorchi... ORPHA:564
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Microphthalmia, Peripheral pulmonary arter... OMIM:613001
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Cryptorchidism, Deep philtrum, Umbilical hernia, High palate, Everted l... OMIM:613884
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate... ORPHA:2250
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Orofacial cleft, High palate, Short phi... ORPHA:958
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Hypoplastic scapulae, Polyhydramnios, Micrognathia, Hypoplasia of the maxi... ORPHA:96334
8Q21.11 Microdeletion Syndrome
Exaggerated cupid's bow, Abnormality of the dentition, Cryptorchidism, Downturned corners of mout... ORPHA:284160
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Microphthalmia ORPHA:3191
Thauvin-Robinet-Faivre Syndrome
Pedal edema, Macroglossia, Varicose veins, Coloboma, Retinal coloboma, Thick vermilion border OMIM:617107
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Agenesis of permanent teeth OMIM:617244
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidism, Hydrocephalus, Agenesis of... OMIM:610829
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands ORPHA:171430
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Palpebral edema, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Opti... ORPHA:261337
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Thick lower lip vermilion, Wide mouth, Macroglossia, Decreased testicular size OMIM:300354
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia ORPHA:2728
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Microphakia, Chorior... OMIM:612109
Congenital Myopathy 22B, Severe Fetal
Tented upper lip vermilion, Dental crowding, Nonimmune hydrops fetalis, Polyhydramnios, Pleural e... OMIM:620369
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw ORPHA:199276
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal... ORPHA:906
Jacobsen Syndrome
Recurrent respiratory infections, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Chorioret... OMIM:147791
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wid... ORPHA:85321
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal coloboma, Microphthalmia, Tet... ORPHA:959
Noonan Syndrome 4
Polyhydramnios, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion border OMIM:610733
Micro Syndrome
Cryptorchidism, High palate, Short philtrum, Retinal coloboma, Microphthalmia ORPHA:2510
Johanson-Blizzard Syndrome
Diabetes mellitus, Short stature, Dextrocardia, Abnormal cardiac septum morphology, Intrauterine ... ORPHA:2315
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Optic disc coloboma, High palate, Chorioretinal coloboma, Microphth... OMIM:608091
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Recurrent pneumonia, Cl... ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 7
Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum OMIM:614104
Cardiac Valvular Dysplasia, X-Linked
Thick vermilion border OMIM:314400
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Diastema, Patent ductus arteriosus, Thick lower lip verm... OMIM:620185
Sandestig-Stefanova Syndrome
Microphthalmia, High palate, Orofacial cleft OMIM:618804
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtrum OMIM:612921
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections, Hypothyroidism ORPHA:2321
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Wide mouth, Thick vermilion border, High palate, Short philtrum OMIM:300986
Noonan Syndrome 14
Polyhydramnios, Cryptorchidism, High, narrow palate, Wide mouth, Thick vermilion border, Long phi... OMIM:619745
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Growth delay, Decreased response to growth hormone stimulation test, Congenita... OMIM:601427
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Increased nuchal translucency, Abnormal lung lobation, Cleft palate, Coarctation ... ORPHA:1052
Martsolf Syndrome 1
Recurrent respiratory infections, Cryptorchidism, High palate, Short philtrum, Long philtrum, Mic... OMIM:212720
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... OMIM:615866
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Everted lower lip vermili... OMIM:608013
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation, Secundum atrial septal defect OMIM:620183
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Abnormal lung morphology, High palate ORPHA:35173
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Microphthalmia, Iris col... OMIM:229400
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip vermilion, ... ORPHA:2058
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Alobar holoprosencephaly, Submucous cleft hard... OMIM:157170
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long philtrum, Microphthalm... ORPHA:2526
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Patent ductus arteriosus... OMIM:617303
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Polyhydramnios, Patent ductus arteriosus, Cleft palate, Hydrocele testis, Thin vermilion border, ... OMIM:614080
Nance-Horan Syndrome
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Cantú Syndrome
Patent ductus arteriosus, Wide mouth, Thick vermilion border, Long philtrum, Umbilical hernia ORPHA:1517
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Microphthalmia OMIM:603467
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Abnormality of the dentition, Cryptorchidism, Wide mouth, Thick vermilion border, Bifid uvula OMIM:618505
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Vici Syndrome
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,... OMIM:242840
Poland Syndrome
Dextrocardia OMIM:173800
Three M Syndrome 1
Thick lower lip vermilion, Spina bifida occulta, Decreased testicular size, Long philtrum OMIM:273750
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Cryptorchidism, Velopharyngeal insufficiency, Submucous... OMIM:223370
Galloway-Mowat Syndrome 3
Edema, Coarctation of aorta, High palate, Narrow mouth, Microphthalmia, Oligohydramnios OMIM:617729
Three M Syndrome 3
Thick vermilion border, Long philtrum OMIM:614205
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus, Gingival overgrowth, Macroglossia, Thick vermili... OMIM:607014
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus OMIM:300863
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Scheie Syndrome
Wide mouth, Thick vermilion border, Everted lower lip vermilion ORPHA:93474
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Abnormality of the tongue, Orofacial cleft, Cleft palate, High palate, Pulmonary ... ORPHA:2990
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Patent ductus arteriosus, Agenesis of canine, Optic disc co... ORPHA:141099
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Prominent superficial veins, Protruding tongue, Cryptorchidism, Patent ... OMIM:612289
Kagami-Ogata Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia, Polyhydramnios, Long philtrum OMIM:608149
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Cryptorchidism, Narrow palate, Thick vermilion border,... OMIM:616078
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Thick vermilion border, Long philtrum ORPHA:228396
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... OMIM:618727
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter ORPHA:705
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Wide mouth, Tooth malposition, Thick vermilion border OMIM:619576
Congenital Disorder Of Glycosylation, Type Iit
Thick vermilion border, Tented upper lip vermilion, Short philtrum OMIM:618885
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Abnormal dental enamel mo... ORPHA:534
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Long philtrum OMIM:617895
Meier-Gorlin Syndrome 4
Emphysema, Thick lower lip vermilion, Narrow mouth OMIM:613804
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Atrial septal defect, Precocious puberty, Patent ductus arterio... ORPHA:2637
Ohdo Syndrome, X-Linked
Cryptorchidism, Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdonti... OMIM:300895
Down Syndrome
Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion, Narrow palate, Downtu... ORPHA:870
Cri-Du-Chat Syndrome
Cryptorchidism, Thick lower lip vermilion, Orofacial cleft, Downturned corners of mouth, Anterior... OMIM:123450
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala... OMIM:115150
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Cryptorchidism, Cleft palate, Downturned corners of mouth, High palate, ... OMIM:614230
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Facial edema, Pulmonary hypoplasia, Polyhydramnios ORPHA:86822
Stromme Syndrome
Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Wide mouth, Microphthalmia, Iris coloboma OMIM:243605
Thanatophoric Dysplasia, Type I
Hydrocephalus, Pulmonary hypoplasia, Polyhydramnios OMIM:187600
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia, Aortopulmonary collateral arteries, Polyhydramnios, Cryptorchidism, Aorto... OMIM:620025
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Dental crowding, Fusiform ascending tubular aorta... OMIM:617168
Joubert Syndrome 27
Thick lower lip vermilion OMIM:617120
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Short stature, Decreased response to growth hormone stimulation test, Aplasia... OMIM:618223
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Shor... ORPHA:3474
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Lip pit, Hypodontia, Microphthalmia, Iris coloboma, Abnormal palate morphology ORPHA:1236
Tetrasomy 5P
Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hypoplasia, Long philtrum ORPHA:3309
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Cryptorchidism, Thick lower lip vermilion, Widely-spaced maxillary c... OMIM:301040
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Palpebral edema, High, narrow palate, Short uvula, Hydrocephalus, Broad... OMIM:619475
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla... ORPHA:2969
Loeys-Dietz Syndrome 2
Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Arterial tortuosity,... OMIM:610168
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... ORPHA:42775
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Long philtrum OMIM:614407
Lamb-Shaffer Syndrome
Thick vermilion border ORPHA:530983
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Edema, H... OMIM:609049
Congenital Fibrinogen Deficiency
Microphthalmia, Decreased testicular size, Gingival bleeding ORPHA:335
Warburg Micro Syndrome 3
Downturned corners of mouth, Microphthalmia, Decreased testicular size, Narrow palate OMIM:614222
Costello Syndrome
Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the dentition, Cryptorchidism, ... ORPHA:3071
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Pierre-Robin sequence, Hydrocephalus, Cleft palate, Glossoptosis... ORPHA:90652
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Deep philtrum, Thick vermilion border, Chylothorax, Long philtrum OMIM:613563
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia OMIM:156610
Cartilage-Hair Hypoplasia
Short palm, Rhizomelia, Micromelia, Small hand, Spinal dysraphism, Mucopolysacchariduria, Mesomelia ORPHA:175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly, Transposition of the great arteries, Microphthalmia OMIM:253800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Polyhydr... OMIM:620186
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Polyhydramnios, Patent ductus arteriosus, Downturned corners of mouth, Macroglos... OMIM:618268
21Q22.11Q22.12 Microdeletion Syndrome
Thin upper lip vermilion, Dental crowding, Thick lower lip vermilion, Downturned corners of mouth... ORPHA:261323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Hydrocephalus, Mi... OMIM:614643
Eec Syndrome
Hypoplasia of the thymus, Anterior hypopituitarism, Short stature, Decreased response to growth h... ORPHA:1896
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Pulmonary hypoplasia ORPHA:3035
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Dental crowding, Polyhydramnios, Cleft upper lip, Patent ductus arteriosus, Thick lo... OMIM:300373
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Spina bifida occulta, Iris coloboma, Vas... OMIM:607323
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Short stature, Pneumonia, Secundum atrial septal defect, Crypto... OMIM:264090
Bardet-Biedl Syndrome 17
Situs inversus totalis, Hypogonadism, Dextrocardia OMIM:615994
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Dextrocardia ORPHA:220493
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Thick lower lip vermilion, Palpebral edema ORPHA:466688
Microphthalmia With Limb Anomalies
Macrodontia, Cleft upper lip, Venous insufficiency, Cryptorchidism, Hydrocephalus, Cleft palate, ... ORPHA:1106
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Repeated pneumothoraces, Carious teeth, Atelectasis, Hydrocephalus, Asc... ORPHA:536467
Mucopolysaccharidosis, Type Iiid
Thick lower lip vermilion, Recurrent upper respiratory tract infections, Wide mouth, Macroglossia... OMIM:252940
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:2248
Diaphanospondylodysostosis
Increased nuchal translucency, Pulmonary hypoplasia, Cleft palate, Oligohydramnios OMIM:608022
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Patent ductus arteriosus, ... ORPHA:363444
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Coloboma ORPHA:85167
Vitreoretinochoroidopathy
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion OMIM:193220
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Polyhydramnios, Cryptorchidism, Pa... ORPHA:818
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hydrocephalus, Thick lower lip vermilion, Recurrent pneumonia, Macrogl... OMIM:309900
Pettigrew Syndrome
Wide mouth, Hydrocephalus, Thick vermilion border, Aqueductal stenosis OMIM:304340
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Atrioventricular canal defect, Dextrocardia, Supernumerary nipple OMIM:618929
Bohring-Opitz Syndrome
Recurrent respiratory infections, Cleft lip, Cleft palate, Coloboma, Prominent palatine ridges ORPHA:97297
Fraser Syndrome
Encephalocele, Anophthalmia, Dental crowding, Cleft upper lip, Myelomeningocele, Dental malocclus... ORPHA:2052
Teebi-Shaltout Syndrome
High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Microphthalmia, Promine... OMIM:272950
Coffin-Lowry Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Thick lower lip vermilion, Narrow palate, ... ORPHA:192
Hurler Syndrome
Recurrent respiratory infections, Hydrocephalus, Macroglossia, Everted lower lip vermilion, Thick... ORPHA:93473
Mosaic Trisomy 16
Large placenta, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aorta, Wide mo... ORPHA:1708
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Recurrent respiratory infections, Cleft soft palate, High, na... OMIM:619950
Fryns Syndrome
Tented upper lip vermilion, Polyhydramnios, Cleft upper lip, Cleft palate, Wide mouth, Pulmonary ... OMIM:229850
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Tetralogy of Fallot, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cl... OMIM:619103
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Hydrocephalus, Orofa... ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip vermilion, Micr... OMIM:253280
Noonan Syndrome 7
Thick vermilion border OMIM:613706
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Thick vermilion border OMIM:618493
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Papillorenal Syndrome
Microphthalmia, Optic disc coloboma, Retinal coloboma, Edema OMIM:120330
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Cleft palate, Thick vermilion border, Umbilical hernia, Emphysema OMIM:616835
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Recurrent respiratory infections, Patent ductus arteriosus, Atrial septal defect ORPHA:1790
Xfe Progeroid Syndrome
Severe short stature, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Hydrocephalus, Lymphangioma ORPHA:1571
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Patent ductus arteriosus, Thick lower lip ... OMIM:614609
Raine Syndrome
Natal tooth, Protruding tongue, Hydrocephalus, Gingival overgrowth, Cleft palate, Wide mouth, Hig... OMIM:259775
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Median cleft lip, Monorchism, Abnorm... ORPHA:2753
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Cousin Syndrome
Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microphthalmia, Microglo... OMIM:260660
Nicolaides-Baraitser Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Short lingual frenulum, Cryptorchidis... OMIM:601358
Developmental And Epileptic Encephalopathy 49
Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip vermilion, Open mout... OMIM:617281
Distal Duplication 5Q
Ventricular septal defect, Short stature, Dextrocardia, Cryptorchidism, Aplasia/Hypoplasia of the... ORPHA:96097
Leukodystrophy, Progressive, Early Childhood-Onset
Thick lower lip vermilion, Smooth philtrum OMIM:617762
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Hydrocephalus, Thick lower lip vermilion, Gingival overgrowth, ... ORPHA:579
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma OMIM:221900
Atelosteogenesis Type I
Polyhydramnios, Pulmonary hypoplasia, Cleft palate ORPHA:1190
Diamond-Blackfan Anemia 8
Thick upper lip vermilion OMIM:612563
Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Abnormality of the dentition, Xerostomia, Tooth agenesis, Thick vermi... ORPHA:238468
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Supernumerary tooth, Patent ductus arteriosus, Thin vermilion border, Thick vermilion border ORPHA:86818
Halperin-Birk Syndrome
Umbilical hernia, Thick vermilion border, High palate, Semilobar holoprosencephaly OMIM:618651
Yunis-Varon Syndrome
Premature loss of primary teeth, Polyhydramnios, Abnormality of dental structure, Cryptorchidism,... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Lymphedema ORPHA:79280
Blomstrand Lethal Chondrodysplasia
Natal tooth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Coarctation of aorta, Pulmonary ... ORPHA:50945
Leopard Syndrome 2
Thick lower lip vermilion OMIM:611554
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Cleft palate, High, narrow palate ORPHA:2714
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Cryptorchidi... ORPHA:2108
Adams-Oliver Syndrome 1
Encephalocele, Cleft upper lip, Pulmonary artery stenosis, Cleft palate, Microphthalmia, Tetralog... OMIM:100300
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplasti... ORPHA:99125
Hydrolethalus Syndrome 1
Median cleft lip, Polyhydramnios, Abnormal lung lobation, Anencephaly, Cleft palate, Severe hydro... OMIM:236680
Xylt1-Cdg
Thick vermilion border, Cleft palate, Long philtrum ORPHA:370930
Histiocytoid Cardiomyopathy
Hydrocephalus, Cleft palate, Stroke-like episode, Microphthalmia, Congenital aphakia, Pulmonary e... ORPHA:137675
Achondrogenesis, Type Ia
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Pulmonary hypo... OMIM:200600
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology ORPHA:261197
Tetrasomy 9P
Aplasia/Hypoplasia of the clavicles, Juxtaductal coarctation of the aorta, Hypoplastic scapulae, ... ORPHA:3310
Fetal Akinesia Deformation Sequence 1
Nonimmune hydrops fetalis, Polyhydramnios, High, narrow palate, Narrow mouth, Increased nuchal tr... OMIM:208150
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hydrocephalus, Cleft palate, Microphthalmia, Iris coloboma OMIM:309801
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Thick lower lip vermilion ORPHA:2057
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Prominent superficial veins, Narrow philtrum, Corneal stromal edema, T... OMIM:601812
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Proportionate ... ORPHA:79345
Meier-Gorlin Syndrome 5
Cryptorchidism, Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Mucopolysaccharidosis Type 6
Macroglossia, Thick lower lip vermilion, Recurrent upper respiratory tract infections ORPHA:583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia OMIM:201180
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Severe short stature, Defective DNA repair after ultraviolet radiation ... OMIM:278800
Sialidosis Type 1
Cherry red spot of the macula, Thick lower lip vermilion ORPHA:812
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Deep philtrum, Hydrocephalus, High palate, Tongue fasciculations, Thick upper lip... OMIM:614969
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Patent ductus arteriosus, Hydrocephalus, Macroglossia, Thick ve... ORPHA:505248
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:619607
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Multiple Pterygium Syndrome, Escobar Variant
Dental malocclusion, Hydrops fetalis, Cleft palate, Downturned corners of mouth, High palate, Pul... OMIM:265000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Pulmonary hypoplasia, Microphthalmia OMIM:617925
Atelosteogenesis Type Ii
Thin upper lip vermilion, Bilateral cleft palate, Polyhydramnios, Cleft palate, Pulmonary hypopla... ORPHA:56304
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Thyroiditis, Lymphadenop... ORPHA:83471
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Optic nerve hypoplasia, Abnormality of the dentition, Lymphedema, Cryptorc... ORPHA:536471
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia, Oligohydramnios ORPHA:96179
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Patent ductus arteriosus, Thick vermilion border, Microdontia, Microphthalmia, Sm... OMIM:620005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the... OMIM:102700
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Polyhydramnios, Cryptorchidism, Hydrocephalus... OMIM:612651
Myhre Syndrome
Thin upper lip vermilion, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Cleft l... OMIM:139210
Marden-Walker Syndrome
Severe short stature, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocepha... ORPHA:2461
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Tented upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Thick vermili... ORPHA:457395
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Marshall Syndrome
Abnormality of the dentition, Thick lower lip vermilion, Cleft palate, High palate, Long philtrum... ORPHA:560
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thick lower lip vermilion, Thick upper lip vermilion, Narrow mouth OMIM:608624
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Tra... OMIM:217980
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Abnormality of the dentition, Respiratory tract infection, Hy... ORPHA:581
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Polyhydramnios, Edema OMIM:302960
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Tented upper lip vermilion, Thick vermilion border OMIM:616723
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Short philtrum OMIM:610758
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... ORPHA:464
Ogden Syndrome
Lymphedema, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion, Cryptorchidism... OMIM:300855
Kleefstra Syndrome Due To A Point Mutation
Umbilical hernia, Thick lower lip vermilion, Natal tooth, Abnormality of the dentition ORPHA:261652
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth OMIM:608779
X-Linked Intellectual Disability, Cabezas Type
Open bite, Thick lower lip vermilion, Wide mouth, High palate, Short philtrum, Decreased testicul... ORPHA:85293
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick lower lip vermilion OMIM:210745
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Pulmonary hypoplasia OMIM:615636
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Polyhydramnios, Abnormality of the dentition, T... ORPHA:79500
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Aicardi Syndrome
Cleft upper lip, Optic disc coloboma, Cleft palate, Short philtrum, Chorioretinal coloboma, Micro... ORPHA:50
Opitz-Kaveggia Syndrome
Dental crowding, Cleft upper lip, Cryptorchidism, Hydrocephalus, Thick lower lip vermilion, Cleft... OMIM:305450
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Hypoplasia of teeth OMIM:234050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia, Micro... OMIM:263520
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Postnatal growth... OMIM:620305
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Caudal Regression Syndrome
Pulmonary hypoplasia, Orofacial cleft ORPHA:3027
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Taurodontia, Thick v... OMIM:305100
Eiken Syndrome
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... OMIM:600002
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Cryptorchidism, Abnormal heart morphology, Aplasia/Hypoplasia o... ORPHA:96092
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Long philtrum ORPHA:555877
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Patent ductus arteriosus, Thick lower lip vermilion, Coarctation of aor... OMIM:612474
Tarp Syndrome
Cryptorchidism, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Tongue nodules, G... ORPHA:2886
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Dental crowding, Cryptorchidism, High, narrow palate, Thick lower lip vermilion, Cleft palate, Sh... OMIM:309583
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele,... OMIM:268300
Alzahrani-Kuwahara Syndrome
Pulmonary artery sling, Narrow philtrum, Thick vermilion border, Hypodontia, Long philtrum, Persi... OMIM:619268
Fraser Syndrome 1
Encephalocele, Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, Myelomeningocele, ... OMIM:219000
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Meier-Gorlin Syndrome 1
Cryptorchidism, Cleft palate, Thick vermilion border, High palate, Narrow mouth, Microdontia, Emp... OMIM:224690
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Patent ductus arteriosus, Th... ORPHA:1465
Developmental And Epileptic Encephalopathy 84
Thick lower lip vermilion, Smooth philtrum OMIM:618792
Pitt-Hopkins Syndrome
Cryptorchidism, Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of perman... ORPHA:2896
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Unilateral renal agenesis ORPHA:457284
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia, Oligohydramnios OMIM:251300
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Abnormality of the dentition, Cryptorchidism, Thick lower lip... OMIM:617557
Peroxisome Biogenesis Disorder 1A (Zellweger)
Protruding tongue, Cryptorchidism, Patent ductus arteriosus, High, narrow palate, Macroglossia, H... OMIM:214100
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Cryptorchidism, Myelomeningocele, Hydro... OMIM:305600
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis, Elevated bronchoalve... OMIM:608710
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Polyhydramnios OMIM:615503
X-Linked Intellectual Disability, Snyder Type
Dental crowding, Cryptorchidism, Thick lower lip vermilion, Cerebral edema, Cleft palate, High pa... ORPHA:3063
Holoprosencephaly 1
Alobar holoprosencephaly, Microphthalmia, Cyclopia, Ethmocephaly, Median cleft lip and palate OMIM:236100
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Goldberg-Shprintzen Syndrome
Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermilion border OMIM:609460
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft palate, Wide mouth, Thick ve... ORPHA:85199
Alg9-Cdg
Thin upper lip vermilion, Pericardial effusion, Abnormal lung lobation, Hydrops fetalis, Wide mou... ORPHA:79328
Constricting Bands, Congenital
Encephalocele, Ectopia cordis, Abnormal lung lobation OMIM:217100
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cleft lip, Cleft palate, Thick vermilion border, Everted lower lip vermilion, Umbilical hernia, O... OMIM:301066
Marshall Syndrome
Thick lower lip vermilion, Pierre-Robin sequence, Cleft palate, Long philtrum, Macrodontia of per... OMIM:154780
Degcags Syndrome
Pneumonia, Polyhydramnios, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Wide mout... OMIM:619488
Meier-Gorlin Syndrome 3
Cryptorchidism, Recurrent pneumonia, Thick vermilion border, Narrow mouth OMIM:613803
Genitopatellar Syndrome
Delayed eruption of teeth, Pulmonary hypoplasia, Long philtrum ORPHA:85201
Achondroplasia
Hydrocephalus, Pulmonary hypoplasia, Polyhydramnios OMIM:100800
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Polyhydramnios, Cleft palate, Thick upper li... OMIM:247200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia, Dehydration, Oligohydramnios OMIM:263200
Donohue Syndrome
Wide mouth, Thick lower lip vermilion, Gingival overgrowth OMIM:246200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Varicose veins, Thick vermilion border, Retinal coloboma, Spina bifida occulta ORPHA:500095
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Cryptorchidism, High, narrow palate, Submucous cleft hard pala... ORPHA:2658
Acrocephalopolydactylous Dysplasia
Ascites, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Refsum Disease
Microphthalmia ORPHA:773
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Recurrent upper respiratory tract infections, Peripheral arterial st... ORPHA:580
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Stuve-Wiedemann Syndrome 1
Pursed lips, Carious teeth, Pulmonary arterial medial hypertrophy, Thin vermilion border, Smooth ... OMIM:601559
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Tented upper lip vermilion, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermili... ORPHA:847
Renal Agenesis
Pulmonary hypoplasia, Oligohydramnios ORPHA:411709
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Cleft upper lip, High, narrow palate, Optic disc coloboma, Orofaci... OMIM:309800
Mowat-Wilson Syndrome
Delayed eruption of teeth, Pulmonary artery sling, Cryptorchidism, Pulmonary artery stenosis, Pat... OMIM:235730
Congenital Disorder Of Glycosylation, Type Iim
Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick vermilion border, Enamel... OMIM:300896
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm, Pulmonary hypoplasia, Oligohydramnios OMIM:619351
Mucopolysaccharidosis Type 2, Severe Form
Abnormal dental morphology, Recurrent upper respiratory tract infections, Peripheral arterial ste... ORPHA:217085
Helsmoortel-Van Der Aa Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Carious teeth, Cryptorchidism, High, ... OMIM:615873
Hennekam-Beemer Syndrome
Thick lower lip vermilion, High palate, Pneumonia ORPHA:2135
Lowry-Wood Syndrome
Thick vermilion border OMIM:226960
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis, Absent uvula OMIM:619708
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal dental morphology, Recurrent upper respiratory tract infections, Peripheral arterial ste... ORPHA:217093
Warburg Micro Syndrome 2
Microphthalmia, Cryptorchidism OMIM:614225
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Cleft palate ORPHA:306542
Lathosterolosis
Foam cells with lamellar inclusion bodies, Myelomeningocele, Gingival overgrowth, Thin vermilion ... OMIM:607330
Lethal Congenital Contracture Syndrome 9
Thin upper lip vermilion, Short umbilical cord, Pulmonary hypoplasia, Polyhydramnios OMIM:616503
Restrictive Dermopathy
Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Large placenta, Patent ductus arte... ORPHA:1662
Kinsship Syndrome
Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m... OMIM:619297
Adnp Syndrome
Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, Recurrent upper respiratory ... ORPHA:404448
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Long philtrum OMIM:611717
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Cryptorchidism, Supernumerary tooth, Hypoplasia of teeth, Agenesis of ... OMIM:268400
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Microdontia, Thick vermilion border, Widely spaced teeth, Narrow mouth ORPHA:324540
Mend Syndrome
Asymmetry of the mouth, Cryptorchidism, Hydrocephalus, Cleft palate, High palate, Microphthalmia ORPHA:401973
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Thick vermilion border, High palate, Dental crowding OMIM:619005
Gapo Syndrome
Prominent scalp veins, Retinal arteriolar tortuosity, High, narrow palate, Thick lower lip vermil... OMIM:230740
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Triangular mouth OMIM:601675
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Thin upper lip vermilion, Dental crowding, Bilateral cryptorchidism, Cryptorchidism, Patent ductu... ORPHA:466791
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Micrognathia, Ascend... OMIM:619503
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia, Edema, Pedal edema OMIM:236700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Disproportionate short stature, Severe short stature, Hepatosplenomegaly ORPHA:93352
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Submu... OMIM:312870
Witteveen-Kolk Syndrome
Branchial fistula, Thin upper lip vermilion, Unilateral cryptorchidism, Polyhydramnios, High, nar... OMIM:613406
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... OMIM:308300
Hypotonia, Ataxia, And Delayed Development Syndrome
Thin upper lip vermilion, Cryptorchidism, Deep philtrum, Thick lower lip vermilion, Downturned co... OMIM:617330
Microphthalmia, Syndromic 6
Anophthalmia, Cryptorchidism, Cleft palate, Coloboma, High palate, Microphthalmia, Microglossia, ... OMIM:607932
Larsen Syndrome
Atrial septal defect, Short stature, Ventricular septal defect, Cryptorchidism, Tracheal stenosis... OMIM:150250
Elsahy-Waters Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Bilateral cryptorchidism, Supernumerary toot... OMIM:211380
Roberts Syndrome
Polyhydramnios, Cleft upper lip, Cryptorchidism, Cleft palate, High palate, Microphthalmia ORPHA:3103
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Truncus arteriosus, Anophthalmia, Abnormal lung lobation ORPHA:2538
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Lens coloboma, Sub... OMIM:619539
Noonan Syndrome
Lymphedema, Cryptorchidism, Pulmonary artery stenosis, Thick lower lip vermilion, High palate ORPHA:648
Monosomy 9P
Abnormality of the dentition, Narrow mouth, Cryptorchidism, Cleft palate, High palate, Long philt... ORPHA:261112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, High palate, Total anomalous pulmonary venous return, Micr... OMIM:609945
Martin-Probst Syndrome
Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Umbilical hernia OMIM:300519
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Postnatal growth retardation, Cryptorc... OMIM:616145
Ear-Patella-Short Stature Syndrome
Cryptorchidism, High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion b... ORPHA:2554
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate OMIM:110100
Pallister-Hall Syndrome
Natal tooth, Accessory oral frenulum, Cryptorchidism, Patent ductus arteriosus, Cleft lip, Abnorm... ORPHA:672
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Proximal Renal Tubular Acidosis
Coloboma, Enamel hypomineralization, Dehydration ORPHA:47159
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Molybdenum Cofactor Deficiency, Complementation Group B
Thick vermilion border, Long philtrum OMIM:252160
Williams Syndrome
Abnormal cerebral vascular morphology, Periorbital edema, Microdontia, Spina bifida occulta, Over... ORPHA:904
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia OMIM:231680
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Large placenta, Increased nuchal translucency, Abnorma... OMIM:215140
Molybdenum Cofactor Deficiency, Complementation Group A
Thick vermilion border, Long philtrum OMIM:252150
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Fucosidosis
Macroglossia, Cherry red spot of the macula, Thick lower lip vermilion, Recurrent respiratory inf... OMIM:230000
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Carious teeth, Cryptorchidism, Cleft palate, Narrow mouth, Microdontia,... OMIM:616734
Cockayne Syndrome Type 3
Carious teeth, Subdural hemorrhage, Aortic root aneurysm, Stroke, Microphthalmia, Enamel hypoplas... ORPHA:90324
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Oligohydramnios OMIM:208540
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Recurrent respiratory infections, Conical to... OMIM:135900
Cockayne Syndrome B
Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental malocclusion, Hypoplasia... OMIM:133540
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Thick vermilion border OMIM:250410
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Den... ORPHA:191
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Cleft palate OMIM:614083
Monosomy 13Q14
Microphthalmia, Holoprosencephaly, Iris coloboma ORPHA:1587
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax OMIM:619036
Acrorenal-Mandibular Syndrome
High palate, Pulmonary hypoplasia, Narrow palate, Oligohydramnios OMIM:200980
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Cerebr... ORPHA:666
Smith-Lemli-Opitz Syndrome
Dental crowding, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Abnormal lung lobation,... OMIM:270400
Aspartylglucosaminuria
Recurrent respiratory infections, Abnormality of the dentition, Carious teeth, Gingival overgrowt... ORPHA:93
Bartsocas-Papas Syndrome 1
Cleft upper lip, Bilateral cryptorchidism, Cleft palate, Microphthalmia, Oral synechia OMIM:263650
Multiple Endocrine Neoplasia Type 2
Neoplasm of the lung, Abnormal tongue morphology, Thick vermilion border ORPHA:653
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Gingival overgr... ORPHA:480880
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Thick lower lip vermilion, Lip telangiectasia, Lac... OMIM:609242
Restrictive Dermopathy 1
Natal tooth, Polyhydramnios, Patent ductus arteriosus, Submucous cleft hard palate, Hydropic plac... OMIM:275210
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Pulmonary hypoplasia, Cleft upper lip OMIM:308050
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Abnormality of the gingiva, Recurrent pneumonia, Wide mouth, Macroglos... ORPHA:798
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Delayed puber... OMIM:617137
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Oligohydramnios OMIM:271520
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia, Oligohydramnios ORPHA:1112
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Lobar holoprosencephaly, Narrow... ORPHA:468631
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pulmonary artery, Iris col... ORPHA:261537
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Widely spaced teeth, Iris coloboma, Bifid uvula, Abnormal den... ORPHA:2152
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, High palate, Bifid uvula, Dental malocclusion OMIM:601552
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Optic disc hypoplasia, Abnormality of canine, High palate, Narrow mouth, Thick upper lip vermilio... ORPHA:261584
Cardiospondylocarpofacial Syndrome
Hypoplastic aortic arch, Horseshoe kidney, Short foot, Vesicoureteral reflux, Decreased testicula... OMIM:157800
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Cryptorchidism, Narrow mouth, Thick lower lip vermilion, Wide mouth, Ol... OMIM:309590
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Poland Syndrome
Encephalocele, Diabetes mellitus, Dextrocardia, Cryptorchidism, Acute leukemia, Atrial septal def... ORPHA:2911
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Thin upper lip vermilion, Oligodontia, High palate, Chorioretinal coloboma, Thick upper lip vermi... OMIM:210730
Branchiooculofacial Syndrome
Anophthalmia, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Lower lip pit, Cleft... OMIM:113620
Meier-Gorlin Syndrome 7
Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, Narrow mouth OMIM:617063
Carpenter Syndrome 2
Dextrocardia, Supernumerary nipple, Situs inversus totalis, Bilateral cryptorchidism, Patent duct... OMIM:614976
Geleophysic Dysplasia 1
Short stature, Tricuspid stenosis, Aortic valve stenosis, Tracheal stenosis, Mitral stenosis OMIM:231050
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, High, narrow palate, Thick lower lip vermi... ORPHA:369950
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Craniotubular Dysplasia, Ikegawa Type
Thick lower lip vermilion, Phthisis bulbi, Thick upper lip vermilion, Long philtrum OMIM:619727
Costello Syndrome
Polyhydramnios, Hydrocephalus, Thick lower lip vermilion, Pneumothorax, Macroglossia, High palate... OMIM:218040
Fabry Disease
Emphysema, Thick lower lip vermilion, Lymphedema ORPHA:324
Kyphoscoliotic Ehlers-Danlos Syndrome
Bicuspid aortic valve, Umbilical hernia, Short stature, Dextrocardia ORPHA:536545
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal p... OMIM:154500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Short philtrum, Abnormality of the pulmonary artery, Iris col... ORPHA:261552
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Cr... OMIM:309580
Ulbright-Hodes Syndrome
Pneumothorax, Thin vermilion border, High palate, Pulmonary hypoplasia, Narrow mouth, Long upper ... ORPHA:3404
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermilion, High palat... ORPHA:2785
Norrie Disease
Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Venous insufficiency, Cr... ORPHA:649
Developmental And Epileptic Encephalopathy 2
Thick lower lip vermilion OMIM:300672
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Microphthalmia, Abnormal testis m... ORPHA:2556
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum ORPHA:314647
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Thick vermilion border OMIM:601321
6Q Terminal Deletion Syndrome
High, narrow palate, Thick vermilion border, Broad philtrum ORPHA:75857
Townes-Brocks Syndrome
Cryptorchidism, Patent ductus arteriosus, Wide mouth, Chorioretinal coloboma, Microphthalmia, Tet... ORPHA:857
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Carious teeth, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Downturned corners of ... OMIM:619522
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Bifid uvula ORPHA:2636
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Thick vermilion border, High palate, Long philtrum, Abnormal dental pulp morphology ORPHA:363700
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Thick lower lip vermilion, High palate OMIM:162300
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Lymphangioma, Splenomegaly, Neoplasm of the thymus, Enla... ORPHA:744
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Recurrent pneumonia, Pulmonary hypoplasia, Ascites, Oligohydramnios ORPHA:731
Dpagt1-Cdg
Intracranial hemorrhage, Anasarca, Pulmonary hypoplasia, Stroke-like episode ORPHA:86309
Isolated Arrhinia
Microphthalmia ORPHA:1134
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
Coffin-Lowry Syndrome
Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate, Widely spaced teeth, ... OMIM:303600
Floating-Harbor Syndrome
Short stature, Precocious puberty, Cryptorchidism, Tetralogy of Fallot, Growth delay, Atrial sept... ORPHA:2044
Floating-Harbor Syndrome
Short stature, Cryptorchidism, Atrial septal defect, Umbilical hernia, Mesocardia OMIM:136140
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Thick lower lip vermilion, Thick vermilion border OMIM:610442
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Hydrops fetalis, Pulmonary hypoplasia, Long philtrum, Bifid tongue ORPHA:93271
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Decreased testicular size, Persistence of primary teeth ORPHA:93325
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Palpebral edema, Thick lower lip vermilion, Downturned corners of mouth, Thin vermilion border, H... OMIM:614756
Acromegaly
Palpebral edema, Abnormality of the dentition, Thick lower lip vermilion, Macroglossia, Joint swe... ORPHA:963
Somatomammotropinoma
Palpebral edema, Abnormality of the dentition, Thick lower lip vermilion, Macroglossia, Joint swe... ORPHA:314769
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Thick lower lip vermilion, Dental malocclusion, Stroke, Renal arte... OMIM:194050
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia, Oligohydramnios ORPHA:49
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Edema of the dor... OMIM:601803
Gabriele-De Vries Syndrome
Abnormality of upper lip vermillion, Abnormality of the dentition, Cryptorchidism, Thick lower li... ORPHA:506358
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Pulmonary hypoplasia, Cleft palate, Narrow mouth ORPHA:83617
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Thick lower lip vermilion, Macroglossia, Recurrent ... OMIM:256040
Aspartylglucosaminuria
Recurrent respiratory infections, Thick lower lip vermilion, Wide mouth, Macroglossia, Macroorchi... OMIM:208400
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Enamel hypoplasia, Cryptorchidism OMIM:309000
Leprechaunism
Thick vermilion border ORPHA:508
Genitopatellar Syndrome
Delayed eruption of teeth, Cryptorchidism, Pulmonary hypoplasia, Polyhydramnios OMIM:606170
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Thick lower lip vermilion, Downturned corners of mouth,... OMIM:259050

Histopathology

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

There is no histopathology data for Atmin

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 Atmin.

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

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