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Gene: Asphd1 MGI:2685014

Gene Summary

Name:

aspartate beta-hydroxylase domain containing 1

Synonyms:

A830007L07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating alkaline phosphatase level	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.70×10^-05
enlarged thymus	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
microphthalmia	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal digit morphology	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.95×10^-05
abnormal eye morphology	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tail morphology	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.03×10^-06
decreased heart rate	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.34×10^-05
increased circulating creatinine level	Asphd1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.72×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Asphd1 mutations

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

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

Human diseases associated with Asphd1 (0 diseases)
Human diseases predicted to be associated with Asphd1 (619 diseases)

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

The table below shows human diseases predicted to be associated to Asphd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange...	ORPHA:3434
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Paroxysmal Extreme Pain Disorder	Tachycardia, Mandibular pain, Bradycardia	OMIM:167400
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia	OMIM:616570
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyp...	OMIM:616299
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Postaxial polydactyly	OMIM:613094
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Thick lower lip vermilion, Atrioventricular block, Joint contractur...	OMIM:614407
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Timothy Syndrome	Prolonged QT interval, Thin upper lip vermilion, Ventricular tachycardia, Atrioventricular block,...	OMIM:601005
Renal Failure, Progressive, With Hypertension	Hypertension, Elevated circulating creatinine concentration	OMIM:161900
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Widely-spa...	OMIM:601349
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Macroglossia, Bradycardia, Abnormal epiphysis m...	ORPHA:95716
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri...	OMIM:212138
Pierpont Syndrome	Thin upper lip vermilion, Cryptorchidism, Short toe, Broad philtrum, Deep palmar crease, Thin ver...	ORPHA:487825
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Br...	ORPHA:95717
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Glutamine Deficiency, Congenital	Hypoglutaminemia, Micromelia, Hyperammonemia, Thin vermilion border, Bradycardia, Camptodactyly	OMIM:610015
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia...	OMIM:206920
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia	OMIM:619048
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Pierpont Syndrome	Cryptorchidism, Short toe, Broad palm, Short foot, Broad philtrum, Deep palmar crease, Thin vermi...	OMIM:602342
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia, Thro...	OMIM:619981
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely...	ORPHA:363417
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Preeclampsia	Elevated circulating creatinine concentration, Polycystic ovaries, Elevated diastolic blood press...	ORPHA:275555
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal wideni...	OMIM:614376
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Illum Syndrome	Calcinosis, Whistling appearance, Pierre-Robin sequence, Bradycardia	OMIM:208155
Moebius Syndrome	Syndactyly, Brachydactyly, Micrognathia, Abnormality of the dentition, Clinodactyly, Split hand, ...	OMIM:157900
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, High palate, Narrow mouth	ORPHA:2528
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased serum creati...	ORPHA:54057
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Temtamy Syndrome	Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, M...	ORPHA:1777
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly	OMIM:610023
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Bradycardia, Hyperammonemia	OMIM:614702
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morphology, Bradycardia, Absent...	ORPHA:226313
Microphthalmia, Syndromic 12	Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Microphthalmia, Retrognathia	OMIM:615524
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Trismus, Hypertension, Bradycardia	ORPHA:3299
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension, Elevated circulating creatinine concentration, Oral ulcer	ORPHA:567544
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia	OMIM:614654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Delayed proximal femoral ...	ORPHA:90673
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Downturned corne...	ORPHA:93267
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligo...	OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Macroglos...	OMIM:613155
Seckel Syndrome 2	Microdontia, Micrognathia, Heart murmur, Clinodactyly of the 5th finger, Microphthalmia, Microglo...	OMIM:606744
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Bone marrow hypocellularity	OMIM:609054
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Dental crowding, Micrognathia, High p...	OMIM:620351
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Microdontia, Microphthalmia, Arrhythmia, Abnormal circulating lipid concentration, ...	ORPHA:3191
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet...	OMIM:618363
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Talipes e...	OMIM:608104
Cln3 Disease	T-wave inversion, Vacuolated lymphocytes, Bradycardia	ORPHA:228346
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Microphthalmia, Hypoplast...	OMIM:602361
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Ovarian neoplasm, O...	OMIM:617883
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Microdontia, Widely spaced teeth, Camptodactyly, Microphtha...	OMIM:619694
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Normochromic an...	OMIM:618775
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Pituitary hypothyr...	ORPHA:90674
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Ring Chromosome 10 Syndrome	Sandal gap, Micrognathia, Tapered finger, Thin vermilion border, Hypocalcemia, Long philtrum, Mic...	ORPHA:1438
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Microphtha...	OMIM:618805
Nanophthalmos	Microphthalmia	ORPHA:35612
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Micrognathia, Cr...	OMIM:241410
Temtamy Syndrome	Aortic regurgitation, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short ...	OMIM:218340
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger, Micrognathia	ORPHA:1466
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact...	ORPHA:1897
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Elevated circulating creatine kinase concentration, Tapered finger, Long f...	OMIM:608836
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus, Micrognathia	OMIM:616171
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Small thenar ...	OMIM:618914
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Cryptorchidism, Carious ...	OMIM:214150
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S...	OMIM:192445
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Microphthalmia, Leukemia, Smooth philtrum	OMIM:602501
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Warburg Micro Syndrome 1	Overlapping toe, Micrognathia, Cryptorchidism, Thin vermilion border, Narrow mouth, Microphthalmia	OMIM:600118
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Tented upper lip vermilion, Sandal gap, Small hand, Pine...	OMIM:618885
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea...	OMIM:300539
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612926
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle...	OMIM:619339
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612924
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism...	ORPHA:94093
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Hypertension, Short philt...	ORPHA:1598
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Xk Aprosencephaly Syndrome	Microphthalmia, Narrow mouth, Abnormal morphology of the radius	ORPHA:3469
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Micrognathia, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, He...	ORPHA:163649
Congenital Fibrinogen Deficiency	Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Clubbing of fingers,...	ORPHA:335
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Elevated circulating creatinine concentration	OMIM:616733
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
D-Glyceric Aciduria	Optic nerve hypoplasia, Single transverse palmar crease, Nonketotic hyperglycinemia, Aminoaciduri...	OMIM:220120
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle...	ORPHA:2189
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip	OMIM:614402
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612925
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod...	ORPHA:193
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Micro...	ORPHA:627
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, 2-3 toe syndactyly, Sin...	OMIM:261990
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Tented upper lip vermilion, Broad hallux, Single transverse palmar crease...	OMIM:614105
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia, Micrognathia	OMIM:614498
Necrotizing Enterocolitis	Shock, Hyponatremia, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia	ORPHA:391673
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Lissencephaly 8	Talipes equinovarus, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia	OMIM:164180
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, H...	OMIM:619148
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Coach Syndrome 2	Hypertension, Elevated circulating creatinine concentration	OMIM:619111
Hartsfield Syndrome	Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, Microphthalmia	ORPHA:2117
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Optic nerve hypoplasia, Decreased response to growth hormone stimula...	ORPHA:226307
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Cryptorchidism, Deep philtrum, 2-3...	ORPHA:404440
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine	ORPHA:289601
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs	OMIM:615605
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Microphthalmia	OMIM:613885
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micro...	ORPHA:2547
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia, Tongue fasciculations	OMIM:608800
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tachycardia, Decreased response to growth hormone stimulation test, Tapered finger...	ORPHA:485405
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Abnormally large globe, Co...	OMIM:269300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Malar prominence, Microphthalmia, Camptodactyly of finger, Micrognathia	ORPHA:48431
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Mosaic Trisomy 1	Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Absent distal interphalang...	ORPHA:1692
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Sinusitis, Elevated circulating creatine kinase concentration, Myocarditis, E...	ORPHA:36234
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Sepsis In Premature Infants	Tachycardia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosi...	ORPHA:90051
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyop...	OMIM:300952
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, Cryptorchidism, Postaxial hand poly...	ORPHA:3378
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Pulmonary arterial hypertension, Long philtrum	OMIM:300887
Glossopharyngeal Neuralgia	Jaw claudication, Syncope, Bradycardia, Tongue pain, Mandibular pain, Abnormal palate morphology	ORPHA:221098
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Bone marrow hypocellularity, Microph...	OMIM:617244
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Cryptorchidism, Open mouth, Bradycardia	ORPHA:565624
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Flared metap...	OMIM:610758
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Elevated circu...	OMIM:274150
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Elevated circulating creatinine concentration, Elevated circul...	OMIM:620138
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
C3 Glomerulopathy	Hypertension, Elevated circulating creatinine concentration	ORPHA:329918
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate	ORPHA:261272
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl...	OMIM:300863
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Cubitus valgus, Cleft upper lip, 4-5 finger syndactyly, Pr...	OMIM:164200
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ...	OMIM:613312
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia	OMIM:614583
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Microphthalmia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocortico...	ORPHA:91355
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Cryptorchidism, Heart murmur, Hypoplasia of teeth, Cleft palate,...	ORPHA:2728
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Single transverse palmar crease, Supernumerary nipple, Cleft lip, Deep p...	OMIM:620098
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Supernumerary nipple, Cleft upp...	OMIM:612530
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli...	ORPHA:85450
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Bile duct proliferation, Poly...	OMIM:603194
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly...	ORPHA:139471
Nephronophthisis 2	Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia	OMIM:602088
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac...	ORPHA:3103
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, High palate, Camptodactyly, Microphthalmia, Clinodactyly, Re...	OMIM:618804
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Ulnar bowing, Sho...	OMIM:619135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Avascular necrosis of the cap...	ORPHA:247691
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Congenital Toxoplasmosis	Microphthalmia, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:858
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Bilateral cryptorchidism, Downturned corners of mouth, Microphthalmia, A...	OMIM:618652
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Duplication of phalanx of hallux, Orof...	OMIM:243310
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio...	ORPHA:90060
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Congenital Rubella Syndrome	Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Abnormal metaphysis morphol...	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration	OMIM:615181
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cryptorchidism, High, narrow pala...	OMIM:618494
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or...	ORPHA:230
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, High palate, Bradycardia	OMIM:619272
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal...	OMIM:244460
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Ectopic thyroid, Hyperbilir...	OMIM:218700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Hypertension, High palate, Bradycardia, Talipes equinovarus, Han...	OMIM:614653
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat...	OMIM:616300
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia...	ORPHA:2839
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Subconju...	ORPHA:319213
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Refsum Disease	Short metacarpal, Heart block, Splenomegaly, Cardiomyopathy, Hammertoe, Abnormal epiphysis morpho...	ORPHA:773
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Portal hypertension, Absent toe, S...	ORPHA:974
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of...	ORPHA:284160
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Pseudo-Torch Syndrome 2	Thrombocytopenia, Bradycardia, Cerebral hemorrhage	OMIM:617397
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypogeusia, ...	OMIM:223900
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m...	OMIM:147250
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Orofacial cleft	ORPHA:324416
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, Cryptorchidism, High, narrow palate, Narrow mouth, Cleft palate, Ra...	OMIM:248700
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations, Goiter	OMIM:188580
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Bilateral microphthal...	ORPHA:369891
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
46,Xy Sex Reversal 4	Micrognathia, Elevated circulating creatinine concentration, Cleft palate, High palate, Increased...	OMIM:154230
Isolated Anencephaly	Cleft lip, Thymus hyperplasia	ORPHA:563609
Yellow Fever	Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	ORPHA:99829
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Bohring-Opitz Syndrome	Ulnar deviation of the wrist, Micrognathia, Cleft lip, Bilateral wrist flexion contracture, Cleft...	ORPHA:97297
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Short tibia, Humeroradial synostosis, Clef...	OMIM:251230
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al...	OMIM:613095
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Crypt...	OMIM:268400
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Micrognathia	OMIM:610756
Stevenson-Carey Syndrome	Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Hip dysplasia, Camptodactyly, M...	OMIM:611961
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interphalangeal jo...	ORPHA:69087
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Distal shortening of l...	OMIM:146510
Bresek Syndrome	Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, Microphthalmia,...	ORPHA:85284
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Cryptorchidism, Long thu...	OMIM:300895
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim...	ORPHA:93325
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro...	ORPHA:1942
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Kapur-Toriello Syndrome	Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, S...	OMIM:244300
Mend Syndrome	Overlapping fingers, Broad hallux, Overlapping toe, Micrognathia, Asymmetry of the mouth, Cryptor...	ORPHA:401973
Trichothiodystrophy 3, Photosensitive	Natal tooth, Bilateral cryptorchidism, Carious teeth, Neutropenia, Eclabion, Microphthalmia, Lymp...	OMIM:616395
Adams-Oliver Syndrome 2	Single transverse palmar crease, Micrognathia, Absent distal phalanges, Short middle phalanx of f...	OMIM:614219
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er...	OMIM:265800
Joubert Syndrome 37	Postaxial polydactyly, Cryptorchidism, High palate, Microphthalmia, Decreased testicular size	OMIM:619185
Proximal Spinal Muscular Atrophy	Hip dislocation, Elbow flexion contracture, Distal upper limb muscle weakness, Bradycardia, Tongu...	ORPHA:70
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,...	ORPHA:3472
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Cleft palate, High palat...	ORPHA:251038
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate...	OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613153
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,...	OMIM:618874
Cryoglobulinemia, Familial Mixed	Hypertension, Elevated circulating creatinine concentration	OMIM:123550
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial polyd...	OMIM:619879
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat...	OMIM:607597
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C...	ORPHA:2092
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Absent thumb, Shor...	OMIM:609053
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Lip pit, Hy...	ORPHA:1236
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Abnormality of the hand, Micrognathia, Cryptorchidism, Met...	OMIM:234100
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated circulating ...	ORPHA:340
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Epip...	OMIM:302960
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla	OMIM:167730
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Intracranial hemorrhage, Hyperte...	OMIM:614424
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Eosinophilia, Supernume...	ORPHA:464
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the ma...	ORPHA:861
Multiple Benign Circumferential Skin Creases On Limbs	Micrognathia, Congestive heart failure, Cryptorchidism, Upper limb asymmetry, Cleft palate, Long ...	ORPHA:2505
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Bile duct proliferation, Micr...	OMIM:611134
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu...	OMIM:616449
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hypertension, Hyperuricemia, Hypotension, Anemia	OMIM:174000
Acro-Renal-Ocular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda...	ORPHA:959
Atelis Syndrome 2	Single transverse palmar crease, Micrognathia, Diastema, Thrombocytopenia, Thick lower lip vermil...	OMIM:620185
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long p...	OMIM:152950
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Short foot, Hand polydactyly, High palate, ...	ORPHA:250989
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Long fingers, Cleft palate, High palate, Hypoplastic nipples, Narrow mouth, Microph...	OMIM:156610
Walker-Warburg Syndrome	Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal circulating cre...	ORPHA:899
3Q29 Microdeletion Syndrome	Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, Pulmonary arteria...	ORPHA:65286
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ...	OMIM:201180
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, Congestive heart failure, Cryptorchidism...	ORPHA:2108
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g...	OMIM:607323
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Narrow philtru...	OMIM:601812
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Macroglossia, Cardiom...	ORPHA:370959
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Aplastic anemia, Single transverse palmar crease, Microgna...	OMIM:223370
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, High palate, Single transverse palmar crease	OMIM:619053
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia	OMIM:615085
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Talipes equinovarus, Micrognathia	OMIM:619036
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph...	ORPHA:534
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Cryptorchidism, Microphthalmia, Broad philtrum	ORPHA:228390
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal...	OMIM:300166
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of...	OMIM:618571
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Elbow dislocati...	ORPHA:2769
Galloway-Mowat Syndrome 3	Arachnodactyly, Micrognathia, Narrow mouth, Hip dislocation, Hypertension, Hypoalbuminemia, High ...	OMIM:617729
Fetal Alcohol Syndrome	Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Microph...	ORPHA:1915
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Cryptor...	OMIM:139210
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Dilated c...	ORPHA:79404
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Thrombocytop...	OMIM:603467
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ...	OMIM:610125
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia, ...	OMIM:127000
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Cryptorc...	OMIM:249000
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower...	OMIM:616920
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Arachnodactyly, Broad hallux, Malar flattening, Dental malocclusion, High palate, Short finger, M...	OMIM:601552
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism	OMIM:613730
Warburg Micro Syndrome 3	Micrognathia, Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger, Microph...	OMIM:614222
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Curry-Jones Syndrome	Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial...	OMIM:601707
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Asplenia, Cryptorchidism, Elbow dislocat...	ORPHA:99776
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Hypokalemia, Goiter	OMIM:613239
Fanconi Anemia, Complementation Group E	Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Reticul...	OMIM:600901
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Spondylo-Ocular Syndrome	Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum	ORPHA:85194
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration, Hypertension	OMIM:120330
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Abnormal ...	ORPHA:411634
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hip dysplasia, Micrognathia, Cryptorchidism	ORPHA:494344
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism	OMIM:601794
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, A...	ORPHA:2538
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism	ORPHA:363741
Focal Dermal Hypoplasia	Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foo...	OMIM:305600
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft ...	OMIM:617925
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Broad h...	ORPHA:508498
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Single transverse pa...	OMIM:620186
Fanconi Anemia, Complementation Group A	Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Reticul...	OMIM:227650
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Micrognathia, Cryptorchidism, Orofacial cleft, Aplasia/Hypoplasia involvin...	ORPHA:3301
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Down-sloping shoulder...	OMIM:109400
Galloway-Mowat Syndrome 1	Micrognathia, Hypoplasia of the iris, Wide mouth, Hypoalbuminemia, Talipes equinovarus, High pala...	OMIM:251300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic...	ORPHA:2470
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Hypertension, Elevated circulating creatinine concentration, Pituitary growth h...	ORPHA:730
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia, Micrognathia	OMIM:617306
Fanconi Anemia, Complementation Group C	Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Reticul...	OMIM:227645
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Micrognathia, Cryptorchidism, Non-midline cleft lip...	ORPHA:2059
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Micrognathia, High palate, Bradycardia, Pulmonary i...	OMIM:614437
Holoprosencephaly	Hyponatremia, Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, C...	ORPHA:2162
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Oligomeganephronia	Hypertension, Elevated circulating creatinine concentration, Micrognathia	ORPHA:2260
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Hypoplasia of the ra...	OMIM:184705
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Micrognathia, Preaxial polydactyly, Cleft palate, Wide ...	OMIM:243605
Fanconi Anemia, Complementation Group D2	Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Thrombocytopenia, Short thumb, Preaxia...	OMIM:227646
Meckel Syndrome	Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia...	ORPHA:564
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical t...	OMIM:308300
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Elevated circulating creatinine concentration, Systolic heart murmur	OMIM:617478
Warburg Micro Syndrome 4	Narrow mouth, Cryptorchidism, Long philtrum, Microphthalmia, Decreased testicular size	OMIM:615663
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Tapered finger, Micrognathia, Cryptorchidism, Long fingers, Microdontia...	OMIM:616734
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Bilateral cryptorchidism, Short...	OMIM:263650
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla, Bilateral microphthalmos	ORPHA:2399
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Portal hypertension, Tapered finger,...	OMIM:620005
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Warburg Micro Syndrome 2	Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the...	OMIM:614225
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Splenome...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Microphthalmia, Retro...	OMIM:614643
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia	OMIM:612379
Lowe Oculocerebrorenal Syndrome	Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum...	OMIM:309000
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Clinodacty...	ORPHA:84
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate...	ORPHA:2250
Trisomy 18	Microretrognathia, Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Non-midli...	ORPHA:3380
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr...	ORPHA:77301
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Oral ulcer, Granulomatosis, Arteritis, Small vesse...	ORPHA:93126
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Cleft upper lip, Cleft palate, Buphthalmos, M...	OMIM:613150
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Median cleft lip, Ab...	ORPHA:3186
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, High ...	ORPHA:35173
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Retrognathia, Hypoplasia of teeth	OMIM:234050
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Supernumerary nipple,...	OMIM:613884
Pallister-Hall Syndrome	Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Ac...	ORPHA:672
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Clinodactyly of the 5th finger, Abnormality of th...	ORPHA:744
Pseudotrisomy 13 Syndrome	Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot p...	OMIM:264480
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Orofacial...	ORPHA:2166
Hyperthyroidism, Nonautoimmune	Goiter, Tachycardia, Increased circulating thyroglobulin level, Thyroid hyperplasia	OMIM:609152
Fryns Syndrome	Microretrognathia, Ectopic pancreatic tissue, Tented upper lip vermilion, Single transverse palma...	OMIM:229850
Degcags Syndrome	Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Syndactyly, Congenital hypoplastic...	OMIM:619488
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Short philtrum, Hypoparathyroidism, Arachno...	ORPHA:567
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p...	OMIM:612474
Micro Syndrome	Micrognathia, Cryptorchidism, High palate, Short philtrum, Microphthalmia	ORPHA:2510
Monosomy 9P	Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorchidism, Posta...	ORPHA:261112
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Syndactyly, Tricus...	OMIM:619534
Vacterl With Hydrocephalus	Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microphtha...	ORPHA:3412
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Micrognathia, Cleft palate, Bilateral talipes equinovarus, Bone marr...	OMIM:614083
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus, Narrow mouth, Cutaneous syndactyly	OMIM:617666
Frontofacionasal Dysplasia	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:1791
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea...	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Micrognathia, Cleft u...	OMIM:236670
Jacobsen Syndrome	U-Shaped upper lip vermilion, Micrognathia, Cryptorchidism, Macular hypoplasia, Clinodactyly of t...	OMIM:147791
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Swollen lip, Cry...	OMIM:256520
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia, Arrhythmia	OMIM:153400
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft palate, Hypopla...	OMIM:603457
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, High, narrow ...	OMIM:613406
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:77298
Adams-Oliver Syndrome 1	Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Hypertension, Pulmonary arte...	OMIM:100300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Micrognathia, Cryptorchidism, Cleft lip, Furrowed tongue, Hip dysplasia, High palate,...	OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Pulmo...	OMIM:253800
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Frontonasal Dysplasia 2	Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum	OMIM:613451
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia	ORPHA:2714
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Narrow mouth, Cleft p...	OMIM:309500
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Syndactyly, T...	OMIM:612289
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Mycophenolate Mofetil Embryopathy	Micrognathia, Orofacial cleft, Foot polydactyly, Short palm, Microphthalmia	ORPHA:268249
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
Trichothiodystrophy	Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, High, narrow palate, B...	ORPHA:33364
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Splenomegaly, Crypt...	ORPHA:191
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd...	OMIM:236680
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Triangular mouth, Retrognathia, Telangiectasia	OMIM:601675
Kapur-Toriello Syndrome	Microphthalmia, Orofacial cleft	ORPHA:2328
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Tetraamelia Syndrome 1	Micrognathia, Asplenia, Cleft upper lip, Cleft palate, Adrenal gland agenesis, Hypoplastic pelvis...	OMIM:273395
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Bila...	OMIM:610828
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, High palate, Phocomelia, Wrist flexion contracture, Hyperplasia of...	OMIM:268300
Joubert Syndrome 2	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, High palate	OMIM:608091
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Junctional ectopic tachycardia, Cleft palate, Histiocytoid cardi...	OMIM:309801
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper...	OMIM:609049
3-Methylglutaconic Aciduria, Type Viii	Bradycardia, Neutropenia	OMIM:617248
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme...	ORPHA:508488
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyph...	OMIM:214800
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level, High palate	OMIM:110100
Cat Eye Syndrome	Micrognathia, Absent radius, Cleft palate, Pulmonic stenosis, Microphthalmia	OMIM:115470
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Micrognathia, Cleft palate, Acute lymphoblastic leukemia, Abnormality of th...	ORPHA:1052
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Dilated c...	ORPHA:2556
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Pulm...	OMIM:601186
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Crypto...	ORPHA:138
Cockayne Syndrome Type 3	Carious teeth, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased b...	ORPHA:90324
Aicardi Syndrome	Prominence of the premaxilla, Cleft upper lip, Small hand, Cleft palate, Hip dysplasia, Short phi...	ORPHA:50
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Cryptorchidism	OMIM:613001
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid	OMIM:606519
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Crypto...	ORPHA:468631
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus...	ORPHA:141099
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Fraser Syndrome	Finger syndactyly, Anophthalmia, Toe syndactyly, Dental crowding, Cleft upper lip, Cryptorchidism...	ORPHA:2052
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Cryptor...	OMIM:206900
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulder...	OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh...	ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Micrognathia, Buphthalmos, Hypoplasia of the ...	OMIM:253280
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou...	OMIM:154500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia	OMIM:612109
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Supernumerary nipple, Proximal placement of thumb,...	OMIM:113620
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Preaxial hand polydactyly, Partial duplicat...	ORPHA:857
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Wi...	ORPHA:2152
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th...	OMIM:229400
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, ...	OMIM:219000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh...	ORPHA:261552
Aicardi Syndrome	Prominence of the premaxilla, Proximal placement of thumb, Cleft upper lip, Cleft palate, Microph...	OMIM:304050
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Thick vermilion border, Long philtrum, Microphthalmia, Leukemia	ORPHA:2526
Isolated Arrhinia	Microphthalmia, Hypoplasia of the nasal bone	ORPHA:1134
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ...	OMIM:157170
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retina...	OMIM:175780
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Mowat-Wilson Syndrome	Delayed eruption of teeth, Supernumerary nipple, Cryptorchidism, Submucous cleft hard palate, Cle...	OMIM:235730
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Craniofacial Microsomia 1	Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of th...	OMIM:164210
Norrie Disease	Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Thin vermilion border, Mi...	ORPHA:649
Holoprosencephaly 1	Microphthalmia, Median cleft lip and palate	OMIM:236100

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 Asphd1

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 Asphd1.

No publications found that use IMPC mice or data for Asphd1.

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MGI Allele	Allele Type	Produced
Asphd1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Asphd1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Asphd1^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice, Tissue
Asphd1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Asphd1 MGI:2685014

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Asphd1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data