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Gene: Trappc10 MGI:1336209

Gene Summary

Name:

trafficking protein particle complex 10

Synonyms:

b2b2416Clo, Tmem1, b2b2613Clo, LOC380642, B230307C21Rik

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 mean corpuscular hemoglobin	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.22×10^-06
decreased bone mineral content	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	5.44×10^-09
decreased lean body mass	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.38×10^-06
increased total body fat amount	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.25×10^-08
increased circulating alkaline phosphatase level	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	1.14×10^-07
increased mean platelet volume	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	8.40×10^-14
increased circulating cholesterol level	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	6.85×10^-05
increased circulating insulin level	Trappc10^{tm1b(KOMP)Wtsi}	HOM	Early adult	2.21×10^-43

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 3)
Aorta	N/A	heterozygote	66.67% (2 of 3)
Blood vessel	N/A	heterozygote	0.0% (0 of 3)
Bone	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	100% (3 of 3)
Brainstem	N/A	heterozygote	100% (3 of 3)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 3)
Cerebellum	N/A	heterozygote	100% (3 of 3)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 3)
Eye	N/A	heterozygote	Ambiguous
Gall bladder	N/A	heterozygote	0.0% (0 of 3)
Heart	N/A	heterozygote	100% (3 of 3)
Hippocampus	N/A	heterozygote	100% (3 of 3)
Hypothalamus	N/A	heterozygote	100% (3 of 3)
Kidney	N/A	heterozygote	100% (3 of 3)
Large intestine	N/A	heterozygote	100% (3 of 3)
Liver	N/A	heterozygote	0.0% (0 of 3)
Lower urinary tract	N/A	heterozygote	66.67% (2 of 3)
Lung	N/A	heterozygote	33.33% (1 of 3)
Lymph node	N/A	heterozygote	0.0% (0 of 3)
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Esophagus	N/A	heterozygote	100% (3 of 3)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 3)
Ovary	N/A	heterozygote	0.0% (0 of 3)
Oviduct	N/A	heterozygote	33.33% (1 of 3)
Pancreas	N/A	heterozygote	100% (3 of 3)
Parathyroid gland	N/A	heterozygote	100% (3 of 3)
Peripheral nervous system	N/A	heterozygote	100% (3 of 3)
Peyer's patch	N/A	heterozygote	0.0% (0 of 3)
Pituitary gland	N/A	heterozygote	0.0% (0 of 3)
Prostate gland	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	100% (3 of 3)
Small intestine	N/A	heterozygote	33.33% (1 of 3)
Spinal cord	N/A	heterozygote	100% (3 of 3)
Spleen	N/A	heterozygote	0.0% (0 of 3)
Stomach	N/A	heterozygote	Ambiguous
Striatum	N/A	heterozygote	100% (3 of 3)
Testis	N/A	heterozygote	33.33% (1 of 3)
Thymus	N/A	heterozygote	0.0% (0 of 3)
Thyroid gland	N/A	heterozygote	0.0% (0 of 3)
Trachea	N/A	heterozygote	0.0% (0 of 3)
Uterus	N/A	heterozygote	33.33% (1 of 3)
White adipose tissue	N/A	heterozygote	0.0% (0 of 3)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

13 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Anti-nuclear antibody assay

Images

3 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Trappc10^{tm1b(KOMP)Wtsi}
HOM, Female, WTSI

View all 125 images

Trappc10^{tm1b(KOMP)Wtsi}
decreased brain internal capsule size, internal capsule, HOM, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
internal capsule, decreased brain internal capsule size, HOM, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI

View all 6 images

Trappc10^{tm1b(KOMP)Wtsi}
TS20 tail, HET, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
TS20 chorioallantoic placenta, HET, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
TS20 forebrain, HET, Female, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
TS20 inner ear, TS20 ear, HET, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
TS20 eye, HET, Male, WTSI

View all 6 images

Trappc10^{tm1b(KOMP)Wtsi}
WT, Female, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
abnormal tail morphology, WT, Male, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
abnormal skin coloration, abnormal skin pigmentation, HOM, Female, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
WT, Female, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
abnormal placement of pupils, HOM, Female, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
corneal opacity, HOM, Female, WTSI

Trappc10^{tm1b(KOMP)Wtsi}
abnormal placement of pupils, HOM, Male, WTSI

Human diseases caused by Trappc10 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 Trappc10 (2 diseases)
Human diseases predicted to be associated with Trappc10 (1486 diseases)

The table below shows human diseases associated to Trappc10 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Recessive Primary Microcephaly		Abnormal cortical bone morphology	ORPHA:2512
Neurodevelopmental Disorder With Microcephaly, Short Stature, And Speech Delay		Microcephaly	OMIM:620027

The table below shows human diseases predicted to be associated to Trappc10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Microphthalmia	ORPHA:3434
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha...	OMIM:611134
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement	OMIM:115210
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Micrognathia, Hypoplastic left a...	OMIM:615524
Distal Deletion 13Q	Encephalocele, Microcephaly, Anencephaly, Primary adrenal insufficiency, Aplasia/Hypoplasia of th...	ORPHA:1590
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Microcephaly	OMIM:601355
Diprosopus	Abnormal cardiac septum morphology, Anencephaly	ORPHA:1681
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Nemaline Myopathy 9	High palate, Ventricular septal defect, Cleft palate, Micrognathia	OMIM:615731
Microhydranencephaly, X-Linked	Multiple joint contractures, Holoprosencephaly, Microcephaly	OMIM:306990
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Sonoda Syndrome	Ventricular septal defect, Narrow mouth	OMIM:270460
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Atrial Fibrillation, Familial, 6	Left ventricular hypertrophy, Left atrial enlargement	OMIM:612201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp...	OMIM:613153
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Microcephaly, Situs inversus totalis, Hydrocephalus, Me...	ORPHA:1908
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle...	OMIM:615297
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613876
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Cerebral cortical atrophy, Holoprosencephaly, Microcephaly	ORPHA:2523
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Microcephaly	ORPHA:293
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se...	OMIM:615248
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency, Anencephaly	ORPHA:1048
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Sple...	OMIM:612526
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi...	OMIM:618804
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid...	OMIM:301033
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Muscular ventricular septal defect	OMIM:620062
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613874
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Transposition of the grea...	OMIM:231060
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Hydranencephaly, Camptodactyly of finger, Microcephaly, Aplasia/Hypo...	ORPHA:2570
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ...	ORPHA:353
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr...	OMIM:608227
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Microp...	ORPHA:77298
Fetal Minoxidil Syndrome	Ventricular septal defect, Micrognathia	ORPHA:1918
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert...	ORPHA:206546
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Tooth agenesis, Mesomelia, Abnormal mitral valve morphology, Abnormal palate morpho...	ORPHA:1277
Xk Aprosencephaly Syndrome	Ventricular septal defect, Narrow mouth, Atrial septal defect, Microphthalmia, Anal atresia	ORPHA:3469
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Holoprosencephaly, Ventricular septal defect, Absent septum pellucidum, Anterior encephalocele	OMIM:601357
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Micrognathia	OMIM:620071
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Muscular ventricular septal defect, Thin lower lip v...	ORPHA:363444
Catel-Manzke Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis, Atrial septal defect, Malar ...	ORPHA:1388
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co...	ORPHA:1335
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Short distal phalanx of finger	OMIM:311895
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Pericardial effusion, Microph...	OMIM:613885
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Schisis Association	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Microcephaly, Anencephaly	ORPHA:63862
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Eve...	ORPHA:261120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cryptorchidism, Flexion contracture, Sk...	OMIM:613156
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Bile duct proliferation, Anencephaly	OMIM:611561
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Microcephaly, Hypoplasia of the brainstem, ...	OMIM:605013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Hypoplasia of the pyramidal tract, Flexion contracture, Hypoplasia of th...	OMIM:253800
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal...	OMIM:614326
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Microcephaly, Limb-girdle muscle weakness, Increased ...	ORPHA:86812
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate, Hepatomegaly	ORPHA:2432
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Feingold Syndrome Type 2	Short middle phalanx of finger, Jejunal atresia, Short thumb, Ventricular septal defect	ORPHA:391646
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Bile duct proliferation, Microphthalmia, Dandy-Walker ma...	OMIM:603194
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal cardiac septum morphology, Upper limb phocomelia, Cleft palate, Abnormal heart morphology	ORPHA:294975
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly	OMIM:300706
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Hydrolethalus	Anophthalmia, Absent septum pellucidum, Cryptorchidism, Hydrocephalus, Anencephaly, Microphthalmi...	ORPHA:2189
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Orbital encephalocele, Hypoplasia of the corpus callosum, Microphth...	OMIM:164180
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Microcephaly, Complet...	OMIM:264480
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate, Micrognathia	OMIM:616570
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla...	OMIM:619142
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Decrease...	ORPHA:335
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Polysplenia, Microcephaly	OMIM:614226
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu...	OMIM:614249
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus c...	OMIM:614261
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa...	ORPHA:276575
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Micrognathia, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects, ...	OMIM:620070
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti...	ORPHA:276580
Lambotte Syndrome	Semilobar holoprosencephaly, Ventricular septal defect, Microcephaly	OMIM:245552
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the musculature, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebell...	OMIM:225790
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity	OMIM:618406
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613251
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, High palate, Narrow mouth	ORPHA:2528
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Mesomelic Limb Shortening And Bowing	Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shortening, Retrognathia	OMIM:249710
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect, Hepatomegaly	OMIM:614876
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Triploidy	Hepatomegaly, Cryptorchidism, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callos...	ORPHA:3376
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Tongue fasciculations	OMIM:253300
Ring Chromosome 21 Syndrome	Microcephaly, Diabetes insipidus, Holoprosencephaly, Abnormal heart morphology	ORPHA:1445
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Holzgreve Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip	OMIM:236110
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Everted lower lip vermilion, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Paten...	OMIM:616028
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ...	ORPHA:324604
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Polymicrogyria	OMIM:616974
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement	OMIM:614022
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy...	OMIM:608751
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Lissenceph...	OMIM:613404
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Osteopenia, Increased insulin like growth factor binding protein acid l...	OMIM:619489
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, High palate, Short philtrum	OMIM:618354
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypog...	OMIM:616033
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly	OMIM:619048
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy, Primary microcephaly	OMIM:620145
Paget Disease Of Bone 6	Left ventricular hypertrophy	OMIM:616833
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, R...	OMIM:612561
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Secondary microcephaly, Decreased level of coenzyme Q10 in skeletal...	OMIM:614654
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Hartsfield Syndrome	Encephalocele, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly	ORPHA:2117
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microcephaly, Cryptorchidism, Anencephaly, Small thenar eminence, Pulmonic stenosi...	OMIM:619148
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Abnormal basal ganglia MRI signal inte...	ORPHA:444013
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Autosomal Recessive Amelia	Micrognathia, Non-midline cleft lip, Orofacial cleft, Abnormal cardiac septum morphology, Amelia ...	ORPHA:1027
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Myopathy, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum	ORPHA:588
Craniorachischisis	Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63260
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Global brain atrophy, Microcephaly	OMIM:614458
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Smooth...	OMIM:614526
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Bilateral cleft lip, Micrognathia, Cleft palate, Gl...	OMIM:618021
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Abnormal heart morphology	OMIM:600252
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Diabetes mellitus, Ragged-red muscle fibers	OMIM:540000
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Micro...	OMIM:618652
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrophy, Adipose ti...	ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Cat-Eye Syndrome (Type I)	Micrognathia, Anal atresia, Abnormal heart morphology	DECIPHER:42
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Lissencephaly, Atrial se...	OMIM:208085
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Camptodactyly, Dandy-Walker malforma...	OMIM:614175
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Thanatophoric Dysplasia Type 2	Atrial septal defect, Hydrocephalus, Encephalocele, Holoprosencephaly	ORPHA:93274
Meckel Syndrome	Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Microcephaly, Situs inversus ...	ORPHA:564
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph...	OMIM:619227
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepato...	ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr...	ORPHA:276556
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Rhizomelia, Micrognathia, Downturned corners of mouth, Short philtrum,...	ORPHA:93267
Cardiomyopathy, Familial Hypertrophic, 16	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy	OMIM:613838
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Microcephaly, Holoprosenceph...	OMIM:147250
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis	OMIM:613873
Sotos Syndrome	Mandibular prognathia, Ventricular septal defect, High, narrow palate, Muscular ventricular septa...	OMIM:117550
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Pol...	ORPHA:83473
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Glossoptosis	ORPHA:3104
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening	ORPHA:93946
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteopo...	ORPHA:77296
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Cerebrocostomandibular Syndrome	Cerebral calcification, Ventricular septal defect, Spina bifida, Microcephaly, Myelomeningocele, ...	ORPHA:1393
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Meckel Syndrome, Type 7	Situs inversus totalis, Pancreatic cysts, Hepatosplenomegaly, Bile duct proliferation, Atrial sep...	OMIM:267010
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Secondary microcephaly, Type 1 muscle fiber predominance, Primary microcephaly, Increased variabi...	OMIM:612949
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida...	ORPHA:3380
Cardiomyopathy, Familial Hypertrophic, 10	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme...	OMIM:608758
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Transposition of the great arteries,...	OMIM:313850
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Supernumerary nipple, C...	OMIM:612530
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia	OMIM:619981
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:615355
8P23.1 Duplication Syndrome	Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of...	ORPHA:251076
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum	ORPHA:398156
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Agenesis of corpus callosum, Holoprosencephaly, Situs inversus tot...	OMIM:202650
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Micrognathia, Cleft palate, Tooth agenesis, Abnormal lower lip morphol...	ORPHA:1166
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum	OMIM:611867
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Hypo...	OMIM:618619
Bronchopulmonary Dysplasia	Right ventricular hypertrophy	ORPHA:70589
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypopl...	OMIM:616546
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Thomas Syndrome	Hypoplastic left heart, Cleft palate, Cleft upper lip	ORPHA:3316
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, T...	OMIM:617616
Holoprosencephaly 14	Ventricular septal defect, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosi...	OMIM:619895
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Walker-Warburg Syndrome	Skeletal muscle atrophy, Anophthalmia, Absent septum pellucidum, Abnormal cortical gyration, Micr...	ORPHA:899
Pituitary Gigantism	Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact...	ORPHA:99725
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Arthrogryposis multiplex congenita, Hypoplasia of the brainstem, Cerebellar hypo...	OMIM:236500
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypoplasia of the corpus callosum, Hypomimic face	ORPHA:93952
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification	ORPHA:75234
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi...	OMIM:608612
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Cerebral atrophy	OMIM:613759
Iniencephaly	Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydrocephalus, An...	ORPHA:63259
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia...	ORPHA:2298
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture	OMIM:616733
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Acitretin/Etretinate Embryopathy	Microcephaly, Conotruncal defect, Hypoplasia of the thymus, Atrioventricular canal defect, Aplasi...	ORPHA:40366
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasi...	ORPHA:2166
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Megalencephaly, Hydrocephalus, Leukemia, Microphthalmia, Cavum septum ...	OMIM:602501
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Os...	OMIM:248370
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Cryptorchidism, Myopathy, Hypoplasia of the corpus callosum, Increased...	OMIM:616816
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Trisomy 1Q	Anophthalmia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia...	ORPHA:261344
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Intellectual Developmental Disorder, Autosomal Recessive 73	Thick upper lip vermilion, Deep philtrum, Ventricular septal defect, Widely spaced teeth	OMIM:619717
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Anencephaly, Holoprosenceph...	OMIM:269860
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee...	OMIM:618506
Cln3 Disease	Left ventricular hypertrophy, Vacuolated lymphocytes, Generalized cerebral atrophy/hypoplasia, In...	ORPHA:228346
Fetal Alcohol Syndrome	Thin upper lip vermilion, Microdontia, Micrognathia, Non-midline cleft lip, Cleft palate, Atrial ...	ORPHA:1915
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration...	OMIM:236680
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Micrognathia, High, narrow palate, Cleft palate, Truncus arteriosus, S...	ORPHA:2516
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab...	OMIM:615418
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Th...	OMIM:608572
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph...	ORPHA:3208
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ...	ORPHA:228399
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity	OMIM:620195
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum	ORPHA:411986
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Atrial septal defect, Malar flatt...	OMIM:241310
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect, Hepatomegaly	OMIM:613730
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d...	OMIM:619343
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome...	ORPHA:848
Monosomy 18P	Microphthalmia, Hypothyroidism, Holoprosencephaly, Microcephaly	ORPHA:1598
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holopr...	ORPHA:990
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ...	OMIM:217095
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy	OMIM:205400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif...	ORPHA:2521
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Vacterl/Vater Association	Occipital encephalocele, Congenital diaphragmatic hernia, Cryptorchidism, Anencephaly, Abnormal c...	ORPHA:887
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Cleft palate, Micrognathia	OMIM:183700
Distal Monosomy 7Q36	Cryptorchidism, Holoprosencephaly, Microcephaly	ORPHA:1636
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Congeni...	ORPHA:435638
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd toe, Short thumb, Muscular ventricular septal defect, Short 4th toe, Short 3rd metacarp...	OMIM:618569
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard...	OMIM:301022
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub...	ORPHA:2712
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Deep p...	ORPHA:404440
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Bilater...	OMIM:601186
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre...	ORPHA:263455
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Hydranencephaly	ORPHA:2839
Fadd-Related Immunodeficiency	Ventricular septal defect, Cerebral atrophy	ORPHA:306550
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Nephrotic Syndrome, Type 11	Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa...	OMIM:616730
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina...	ORPHA:2369
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Trisomy 13	Anophthalmia, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the iris, Atrial s...	ORPHA:3378
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Intellectual Developmental Disorder, Autosomal Recessive 79	Short hallux, Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum	OMIM:620393
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size, Alobar holoprosencephaly	OMIM:615433
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Microcephaly, Cryptorchidism, Holoprosencepha...	ORPHA:261236
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu...	OMIM:300400
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Short toe, Thin vermilion border, Widely spaced teeth,...	ORPHA:487825
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Bone-marrow...	OMIM:278000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Secondary microcephaly, Lef...	OMIM:619167
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Long philtrum, Atrial septal defect, Microphthalmia, Tetralogy of Fallot	OMIM:300887
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Feingold Syndrome Type 1	Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Esopha...	ORPHA:391641
Lambert Syndrome	Wide mouth, Malar flattening, Ventricular septal defect	ORPHA:1296
2Q24 Microdeletion Syndrome	Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate	ORPHA:1617
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy, Hypothyroidis...	OMIM:617713
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Abnormally large globe, Megalencephaly, Hydro...	OMIM:603387
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Periventricular leukomalacia, Ventricular septal defect, Microcephaly	ORPHA:357225
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Pierpont Syndrome	Smooth philtrum, Short toe, Prominent median palatal raphe, Short foot, Thin vermilion border, Wi...	OMIM:602342
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Dental crowding, Micrognathia, Mitral valve prolapse, High palat...	ORPHA:228410
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, High palate, Atria...	OMIM:612946
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary...	OMIM:136760
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Atrial...	ORPHA:1913
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle, Cleft palat...	OMIM:220210
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Leukocytosis, Ischemic stroke, Left ventricular hypertrophy, Hypopituitarism, Hypo...	ORPHA:90065
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microdontia, M...	ORPHA:3191
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Bile duct proliferation	OMIM:612284
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation...	ORPHA:250999
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Short thumb, Abnorma...	ORPHA:401935
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Nanophthalmos	Microphthalmia	ORPHA:35612
Holoprosencephaly	Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Holoprosencephaly, Apla...	ORPHA:2162
Jacobsen Syndrome	Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Flexion contracture, Macu...	OMIM:147791
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:609654
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Absent septum pellucidum, Supernumerary nipple, Patent foramen ovale, ...	OMIM:613884
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele, Holoprosencephaly, Single ventricle	OMIM:619879
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Camptodactyly of finger, Adrenal hypoplasia, Microceph...	OMIM:249000
Estrogen Resistance	Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Temtamy Syndrome	Micrognathia, Short toe, Thick lower lip vermilion, Microphthalmia, Abnormal palate morphology	ORPHA:1777
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida	ORPHA:1104
Microform Holoprosencephaly	Maternal diabetes, Microcephaly, Hypothyroidism, Panhypopituitarism, Holoprosencephaly, EMG: myop...	ORPHA:280200
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Obesity	ORPHA:369873
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Steinfeld Syndrome	Microphthalmia, Absent gallbladder, Holoprosencephaly, Abnormal heart morphology	OMIM:184705
Estrogen Resistance Syndrome	Osteopenia, Increased circulating gonadotropin level, Absence of secondary sex characteristics, H...	ORPHA:785
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest...	ORPHA:633
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis...	OMIM:115470
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ...	OMIM:179613
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microcephaly, Cryptorchidism, Microphthalmia, Inferior cerebellar vermis hypoplasia...	ORPHA:139471
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis	OMIM:217085
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Diabetic Embryopathy	Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the...	ORPHA:1926
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Cerebellar hypopl...	OMIM:236100
Li-Campeau Syndrome	Ventricular septal defect, Patellar hypoplasia, Long philtrum, Atrial septal defect, Patent foram...	OMIM:619189
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect, Micrognathia	OMIM:243440
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Joubert Syndrome 18	Lobulated tongue, Retrognathia, Ventricular septal defect, Cleft palate	OMIM:614815
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Increased overbite, Abnormally large globe	OMIM:618504
Zechi-Ceide Syndrome	Mandibular prognathia, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morphology, Down...	ORPHA:217017
Cog4-Cdg	Hypercholesterolemia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ...	OMIM:617022
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Micrognathia	ORPHA:1466
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Cleft palate, Abnormal ...	OMIM:618494
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Mulibrey Nanism	Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,...	OMIM:253250
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly	OMIM:616737
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Thrombocytopenia, Aplasia/Hy...	ORPHA:290
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Cerebellar hypopl...	OMIM:616276
Nanophthalmos 4	Microphthalmia	OMIM:615972
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Thin upper lip vermilion, Oligodontia, Ventricular septal defect	OMIM:618330
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening	ORPHA:166100
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hydrocephalus,...	OMIM:613001
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, S...	ORPHA:79240
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Micrognathia, Shortening of all distal phalange...	OMIM:619135
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati...	OMIM:613327
Peripartum Cardiomyopathy	Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat...	ORPHA:563
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal...	OMIM:301043
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Small hand, Cleft palate...	OMIM:619980
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Grange Syndrome	Ventricular septal defect, Short palm	ORPHA:79094
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia	OMIM:614583
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas...	ORPHA:2470
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial septal defect, Microp...	ORPHA:2728
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect, Broad alveolar ridges	OMIM:314320
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ...	ORPHA:79086
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Micrognathia...	OMIM:612474
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Part...	ORPHA:1686
Aase-Smith Syndrome I	Open mouth, Ventricular septal defect, Cleft palate	OMIM:147800
Congenital Toxoplasmosis	Hepatomegaly, Microphthalmia, Cardiomegaly	ORPHA:858
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malo...	OMIM:613680
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Osteopenia, Extramedullary hematopoiesis, Diabetes...	ORPHA:231222
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Alg12-Cdg	Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Muscular ventricular septal defec...	ORPHA:79324
Filippi Syndrome	Ventricular septal defect, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrat...	OMIM:272440
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Cerebral calcification, Hemolytic anemia, Microcephaly, Pericardial e...	OMIM:619487
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt...	ORPHA:261190
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu...	ORPHA:251038
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Seckel Syndrome 2	Microdontia, Microphthalmia, Microglossia, Micrognathia	OMIM:606744
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Tyshchenko Syndrome	Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni...	OMIM:615102
Congenital Aortic Valve Stenosis	Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Left ...	ORPHA:3093
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi...	OMIM:206900
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Right ventricular hypertrophy	ORPHA:217563
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m...	ORPHA:98915
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Bartsocas-Papas Syndrome 2	Accessory oral frenulum, Micrognathia, Small hand, Bilateral cleft lip and palate, Microphthalmia	OMIM:619339
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, High palate, Ventricular septal defect	ORPHA:3369
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Delpire-Mcneill Syndrome	Agenesis of corpus callosum, Cortical dysplasia, Ventricular septal defect	OMIM:619083
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Dilated cardiomyopathy	ORPHA:66634
Weill-Marchesani Syndrome	Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Microtia-Anotia	Holoprosencephaly	OMIM:600674
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Hypogon...	OMIM:615996
Mosaic Variegated Aneuploidy Syndrome	Aplasia/Hypoplasia of the cerebellum, Rhabdomyosarcoma, Microcephaly, Aplasia/Hypoplasia of the c...	ORPHA:1052
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Pulmoni...	OMIM:615508
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Orofacial cleft, Microphthalmia, Tetralogy of ...	ORPHA:2328
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p...	OMIM:602418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Cardiomyopathy	OMIM:613155
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion border, Long philtrum, ...	ORPHA:85194
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, High palate, Hepatomegaly	OMIM:619053
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Micrognathia, High palate, Atrial septal defe...	OMIM:618142
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of the great arteries, Atrial se...	OMIM:306955
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Micrognathia	OMIM:616171
Holoprosencephaly 7	Occipital meningocele, Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus cal...	OMIM:610828
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned ...	OMIM:618571
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Pulmonic stenosis, Microphthalmia, Retrognath...	OMIM:618914
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Delay...	ORPHA:90674
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Adrenal hypoplasia, Morgagni diaphragmatic...	OMIM:613177
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Hydrocele testis, Hypoplasia of...	ORPHA:79330
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Cousin Syndrome	Hydrocephalus, Camptodactyly, Hydranencephaly, Microphthalmia, Joint contracture of the hand, Wri...	OMIM:260660
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti...	OMIM:300967
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect	OMIM:620184
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly	OMIM:601370
Holoprosencephaly 2	Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Semilobar holopro...	OMIM:157170
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Spina bifida, Cryptorchidism, Agenesis of corpus call...	OMIM:256520
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern...	ORPHA:468631
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate...	OMIM:616449
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Bicuspid aortic valve, Cleft upper lip, Orofacial cleft, Wide mouth, Lo...	OMIM:243310
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Cryptorchidism, Flexion contracture, Male hypogonadism, Subcortical w...	ORPHA:90322
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular septal defect, U...	OMIM:618651
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia	ORPHA:3405
Holoprosencephaly-Caudal Dysgenesis Syndrome	Holoprosencephaly, Microcephaly	ORPHA:2165
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re...	OMIM:146510
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, Ventricular septal defect, Cryptorchidism, Hypothyroidism, Thin corpus ...	OMIM:619908
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Decreased respons...	OMIM:610829
Noonan Syndrome 12	Anteriorly placed anus, Tetralogy of Fallot, Ventricular septal defect, 11 pairs of ribs	OMIM:618624
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Abnormal heart morphology, Short 5th finger, Narrow ...	OMIM:239800
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Thick vermilion border, Ventricular septal defect, Downturned corners of mouth	OMIM:618974
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Downturned corners of mouth, W...	OMIM:618067
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas...	OMIM:616367
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Periventricular Nodular Heterotopia 7	Microretrognathia, Ventricular septal defect, Dental crowding, Micrognathia, Pierre-Robin sequenc...	OMIM:617201
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia	OMIM:619694
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth...	ORPHA:2549
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Micrognathia	OMIM:607598
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Rieger anomaly, Ventricular septal defect, Micrognathia, Narrow mouth, ...	OMIM:270450
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Hepatomegaly, Ventricular septal defect, Cleft palate	OMIM:620210
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion...	OMIM:618950
Verheij Syndrome	Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Cleft palate, Short ...	OMIM:615583
Galloway-Mowat Syndrome 7	Ventricular septal defect, Micrognathia, Cleft lip, Dilated cardiomyopathy, Cleft palate, High pa...	OMIM:618348
Vici Syndrome	Lymphopenia, Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Dilated cardiomyopathy, ...	OMIM:242840
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Aplasia/Hypoplasia of the fibula, Micrognathia...	ORPHA:2256
Warburg Micro Syndrome 1	Microphthalmia, Thin vermilion border, Micrognathia, Narrow mouth	OMIM:600118
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Anal atresia	OMIM:619318
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermi...	OMIM:612938
Char Syndrome	Ventricular septal defect, Persistence of primary teeth, No permanent dentition, Thick vermilion ...	ORPHA:46627
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Dilated cardiomyopathy, Cerebral atrophy, Abnormal cerebral white matter morphology...	OMIM:618321
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Bilateral microphthalmos, Abnormal heart morpho...	ORPHA:369891
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyc...	OMIM:608594
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Micro...	ORPHA:627
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic steno...	OMIM:616564
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia, Right ventricular hypertrophy	ORPHA:275766
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i...	OMIM:246200
Pulmonary Hypertension, Primary, 1	Right ventricular hypertrophy	OMIM:178600
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Apparent Mineralocorticoid Excess	Left ventricular hypertrophy, Decreased circulating aldosterone level, Abnormality of circulating...	ORPHA:320
Mpi-Cdg	Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De...	OMIM:203800
Woods Syndrome	Thin vermilion border, Ventricular septal defect	OMIM:615236
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Microcephaly, Secundum atrial septa...	OMIM:612541
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Orofacial cleft	ORPHA:324416
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Hyd...	OMIM:245600
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor...	ORPHA:466791
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Thin corpus callosum	OMIM:616277
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Absent nipple, Aplasia of the thymus, Facial palsy, Hypothyroidism, Congenital hy...	OMIM:620186
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr...	ORPHA:2059
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Short thumb, Cleft palate, At...	OMIM:244300
Heart And Brain Malformation Syndrome	Ventricular septal defect, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted low...	OMIM:616920
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:615279
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	OMIM:610125
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Pulmonic stenosis, Atrioventric...	OMIM:619123
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t...	ORPHA:1727
Stevenson-Carey Syndrome	Pierre-Robin sequence, Downturned corners of mouth, Narrow mouth, Atrial septal defect, Microphth...	OMIM:611961
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Isolated Exencephaly	Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis...	ORPHA:563612
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrop...	ORPHA:746
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Cryptorchidism, Abnormal heart morphology, Hypoplasia of the thymus, Camptodactyly,...	OMIM:214110
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Complete atrioventricula...	ORPHA:476126
Fabry Disease	Left ventricular hypertrophy, Anemia, Ventricular septal hypertrophy, Delayed puberty	OMIM:301500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Hepatomegaly, Facial hypotonia, Cardio...	ORPHA:308552
Adams-Oliver Syndrome 6	Ventricular septal defect, Splenomegaly, Esophageal varix, Foot oligodactyly, Truncus arteriosus	OMIM:616589
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia, Tetralogy...	OMIM:153400
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Microcephaly, Holoprosencephaly, Microphthalmia, Tetralogy ...	ORPHA:3186
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Asplen...	OMIM:265380
Arachnoid Cyst	Encephalocele, Facial palsy, Posterior fossa cyst at the fourth ventricle, Mild malformation of c...	ORPHA:2356
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Microcephaly, Cryptorchidism, Hypoplastic left heart, Aplasia/Hypoplas...	ORPHA:2772
49,Xxxxy Syndrome	Cryptorchidism, Hypogonadism, Holoprosencephaly, Hypoplasia of the corpus callosum, Type II diabe...	ORPHA:96264
Joubert Syndrome 14	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Short philtrum, Microphthalm...	OMIM:614424
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Microtia	Holoprosencephaly	ORPHA:83463
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Micrognathia, Wide mouth, Macroglossia, Short philtrum, Long philtrum,...	OMIM:615668
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Ventricular septal defect, Thick lower lip vermilion, Gingival overgrow...	OMIM:220500
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Micrognathia, Duodenal stenosis	ORPHA:2547
Marden-Walker Syndrome	Dextrocardia, Micrognathia, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Nar...	OMIM:248700
Mucopolysaccharidosis, Type X	Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp	OMIM:619698
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Retrognathia, Ventricular septal defect, Hypoplasia of teeth	OMIM:234050
Serkal Syndrome	Orofacial cleft, Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Hamamy Syndrome	Thin upper lip vermilion, Micrognathia, Complete atrioventricular canal defect, Dental malocclusi...	OMIM:611174
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, High palate	OMIM:269920
Holoprosencephaly-Craniosynostosis Syndrome	Holoprosencephaly, Microcephaly	ORPHA:2163
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa...	ORPHA:412
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Adrenal hypoplasia, Focal polymicrogyria, Cryptorchidism, Hydrocephalus...	OMIM:612651
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia	OMIM:602196
Roifman Syndrome	Noncompaction cardiomyopathy, Thin upper lip vermilion, Short metacarpal, Ventricular septal defe...	OMIM:616651
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve...	OMIM:618874
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Micrognathia, Thin vermilion border, Long philtrum, Microphthalmia	ORPHA:1438
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent...	ORPHA:193
Immunodeficiency 9	Myopathy, Hypoplasia of the thymus	OMIM:612782
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Increased mean platelet volume, Abnormality of the endocrine system, Flexion con...	ORPHA:487796
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Malar prominence, Microphthalmia, Micrognathia	ORPHA:48431
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog...	ORPHA:324410
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt...	OMIM:249270
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Micrognathia, Complete atrioventricula...	OMIM:617925
Isolated Klippel-Feil Syndrome	Anal atresia, Ectopic anus, Ventricular septal defect, Cleft palate	ORPHA:2345
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy...	ORPHA:230851
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Hypoplastic left heart, Bif...	ORPHA:2001
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Small hand, Wide mout...	OMIM:617450
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Short 1st metacarpa...	OMIM:609053
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrotation, Micrognathia...	ORPHA:7
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Hepatomegaly	OMIM:618805
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Brachydactyly, Type B1	Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ...	OMIM:113000
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Holoprosencephaly, Pancreatic a...	ORPHA:556955
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Cryptorchidism...	ORPHA:500159
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent foramen ovale, Partial absence of cerebellar vermis, Hydrocele testis, Proximal muscle wea...	ORPHA:280633
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia	OMIM:619699
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Wide mouth, Short foot, Short philtrum, Short palm, Microphthalmia	ORPHA:163966
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agen...	OMIM:218350
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall...	OMIM:601005
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Hy...	OMIM:618325
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, C...	OMIM:615948
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Microphthalmia	ORPHA:3412
Wrinkly Skin Syndrome	Delayed eruption of teeth, Microretrognathia, Carious teeth, Muscular ventricular septal defect, ...	OMIM:278250
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Micrognathia, Carious teeth, Abs...	ORPHA:96097
Fibular Hemimelia	Thrombocytopenia, Anophthalmia, Spina bifida, Abnormal heart morphology	ORPHA:93323
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Cleft palate, Downturned corners of mouth, Hemiatrophy of upper limb, High palate, ...	ORPHA:163649
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Absent septum pellucidum, Abnormal c...	ORPHA:2538
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Left ventricular hypertrophy, Cerebral edema	OMIM:619355
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth	OMIM:618798
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Micrognathia, Ventricular septal defect, Malabsorption	ORPHA:452
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Cardiomegaly, Micrognathia, Cleft palate, Unilateral clef...	OMIM:616897
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr...	ORPHA:2299
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Autosomal Dominant Progressive External Ophthalmoplegia	Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Quadriceps muscle weakness, Hypothyroid...	ORPHA:254892
Multifocal Atrial Tachycardia	Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Hypoplasia of the brainstem, ...	OMIM:615636
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia, Camptodactyly of 2nd-5th fingers, Unilateral cryptorchidism	OMIM:206920
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, High, narrow palate, Deep phil...	OMIM:158170
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Retrognathia, Ventricular septal defect, Cleft palate	ORPHA:52055
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Micrognathia, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombo...	ORPHA:49827
Recombinant 8 Syndrome	Ventricular septal defect, Cleft upper lip, Abnormality of the dentition, Micrognathia, Patellar ...	ORPHA:96167
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, Hypoplasia of the musculature, Cryptorchidism, Tricuspid v...	ORPHA:1101
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham...	OMIM:174300
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, L...	OMIM:608149
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft pal...	OMIM:607597
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Atrial s...	OMIM:619769
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Microcephaly, Tetralogy of Fallot, Lobar holoprosencephaly	OMIM:614701
Emanuel Syndrome	Broad jaw, Ventricular septal defect, Truncus arteriosus, Dental crowding, Delayed eruption of pr...	OMIM:609029
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Wide m...	OMIM:157800
Teebi-Shaltout Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mou...	OMIM:272950
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Beta-Thalassemia Major	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231214
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Downturned corners of mouth,...	OMIM:619503
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia	OMIM:602579
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec...	OMIM:214800
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Ventricular septal defect, Microm...	OMIM:210710
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Flexion contrac...	ORPHA:79243
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard...	OMIM:619103
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, Hypoparathyroidism, Hyperthyroidi...	ORPHA:567
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ...	ORPHA:1071
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o...	OMIM:257850
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,...	ORPHA:819
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Short palm, ...	ORPHA:268249
Temtamy Syndrome	Dental crowding, Micrognathia, Hypoplasia of teeth, Short 2nd toe, Long philtrum, Microphthalmia	OMIM:218340
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Atrial ...	OMIM:610536
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Hypoplasia of...	OMIM:309520
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Microcephaly, Aqueductal stenosis, Cry...	ORPHA:138
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmi...	ORPHA:141099
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Micrognathia, ...	OMIM:145420
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Knee flexion co...	ORPHA:576
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Truncus arteriosus, Retrognathia	OMIM:617516
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C...	ORPHA:457193
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia	OMIM:616037
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Oligodontia, ...	OMIM:617061
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Micrognathia	OMIM:616901
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi...	OMIM:618027
Moebius Syndrome	Micrognathia, Abnormality of the dentition, High palate, Lower limb undergrowth, Microphthalmia, ...	OMIM:157900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Orofacial cleft, Short ribs	OMIM:615630
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ...	ORPHA:210122
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Exaggerated cupid...	OMIM:615879
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Micrognathia, Cleft palate, High palate, Retrognathia	OMIM:617164
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum, Mic...	OMIM:214150
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Cerebral atrophy	OMIM:617635
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the cerebellum, Congenital diaphragmatic hernia,...	ORPHA:818
Down Syndrome	Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Short middle phalanx of the ...	OMIM:190685
Pontocerebellar Hypoplasia, Type 17	Cerebellar vermis hypoplasia, Ventricular septal defect, Secundum atrial septal defect, Hypoplasi...	OMIM:619909
19P13.3 Microduplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Thick vermilion border, Short philtrum, Na...	ORPHA:447980
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Microcephaly, Hypothyroidism, Cryptorchidi...	OMIM:300166
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's...	ORPHA:464738
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Absent sept...	ORPHA:95494
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia o...	OMIM:106260
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Distal Deletion 19P	Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Tricuspid val...	ORPHA:96129
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Cerebrooculonasal Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus,...	OMIM:605627
Cat-Eye Syndrome	Microphthalmia, Anal atresia	ORPHA:195
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Intestinal malrotation,...	ORPHA:99776
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent...	ORPHA:284169
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventricular septal defect, Truncus arteriosus, Dental crowd...	ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va...	OMIM:618316
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Micrognathia, Small hand, Short foot, Thin vermilion border...	OMIM:241410
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Short tibia, Missing ribs, Cleft palate, F...	OMIM:251230
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis...	ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Hyp...	OMIM:617751
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
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion	OMIM:617883
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Cleft palate	ORPHA:1770
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Precocious puber...	OMIM:270400
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
2Q31.1 Microdeletion Syndrome	Short palm, Ventricular septal defect, Micrognathia, Deep philtrum, Cleft palate, Downturned corn...	ORPHA:251014
Cockayne Syndrome Type 1	Hepatomegaly, Anophthalmia, Foot joint contracture, Basal ganglia calcification, Cryptorchidism, ...	ORPHA:90321
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Deep philtrum, Hepatosplenomegaly, Wide mo...	OMIM:606003
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Al...	OMIM:235255
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever...	ORPHA:65286
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, Dilated cardiomyopathy, Wide mou...	ORPHA:261250
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of the anteri...	ORPHA:75389
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, High palate, Long philtrum, Atrial septal de...	OMIM:617452
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Atrial septal defect, Agenesis of ...	OMIM:312870
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Bilateral microphthalmos, Cleft palate, Abnormal heart morpholog...	OMIM:154500
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Abnormal cortical gyration, Microcephaly, ...	OMIM:614576
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes...	ORPHA:436252
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Holt-Oram Syndrome	Ventricular septal defect, Absent thumb, Anomalous pulmonary venous return, Aplasia/Hypoplasia of...	ORPHA:392
Warsaw Breakage Syndrome	Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydrocepha...	ORPHA:2556
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Absent septum pellucidum, Microcephaly, Lobar holoprosenc...	OMIM:618500
Martsolf Syndrome 1	Short palm, Short metacarpal, Micrognathia, Hypoplasia of the maxilla, Short toe, Cardiomyopathy,...	OMIM:212720
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hype...	ORPHA:275761
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Abnormally large globe, Microg...	ORPHA:1655
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Fraser Syndrome 1	Encephalocele, Anophthalmia, Abnormal cortical gyration, Microcephaly, Cryptorchidism, Myelomenin...	OMIM:219000
Faciocardiorenal Syndrome	Cleft palate, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, Narrow mouth, Smo...	ORPHA:1973
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism...	OMIM:300514
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Kury-Isidor Syndrome	Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi...	OMIM:619762
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia,...	OMIM:164200
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal heart morphology, Hypoplast...	ORPHA:2209
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Anal stenosis, Short humerus, Ventricular septal defect, Clef...	OMIM:117650
Mosaic Trisomy 1	Microretrognathia, Ventricular septal defect, Thick lower lip vermilion, Cleft palate, Orofacial ...	ORPHA:1692
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Bilateral microphthalmos, Short philtrum, Abnormal heart morphology	OMIM:610758
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Abnormal dental morphology, Ventricular septal defec...	ORPHA:1458
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Short 2n...	OMIM:612582
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Downturned ...	ORPHA:329224
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, Atrioventri...	ORPHA:672
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow ...	OMIM:619312
Inverted Duplicated Chromosome 15 Syndrome	High palate, Tetralogy of Fallot, Ventricular septal defect, Short philtrum	ORPHA:3306
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Aganglionic megacolon, Ventricular septal defect	OMIM:613870
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Neuhauser Syndrome	Osteopenia, Hypercholesterolemia, Primary hypothyroidism	OMIM:249310
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes	ORPHA:563609
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Micrognathia, Missing ribs, Orofacial cleft, Narrow mouth, Microphthalmia,...	ORPHA:3301
Cooper-Jabs Syndrome	Anteriorly placed anus, Malar flattening, Ventricular septal defect, Missing ribs	ORPHA:1488
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Small h...	OMIM:610759
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial anomalous pulmonary veno...	OMIM:619657
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Holoprosencephaly 4	Semilobar holoprosencephaly	OMIM:142946
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In...	ORPHA:79474
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity	ORPHA:69663
Hartsfield Syndrome	Diabetes insipidus, Microcephaly, Alobar holoprosencephaly, Cryptorchidism, Gonadotropin deficien...	OMIM:615465
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Holoprosencephaly 3	Central diabetes insipidus, Holoprosencephaly, Microcephaly	OMIM:142945
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ventricular septal defect, Microcephaly, Hypoplastic anterior limbs of the internal...	OMIM:615673
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Dental crowding, Intestinal malrotation, Carious teeth, Downturned cor...	OMIM:617602
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Micromelia, Hypoplasia of the radius, Short ribs, Long philtrum	OMIM:617895
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypercholesterolemia, Hypothyroidism	ORPHA:2479
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ...	OMIM:201180
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Meier-Gorlin Syndrome 7	Anal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Complete atrioventri...	OMIM:617063
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect	OMIM:601927
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia	OMIM:614105
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Ventricular septal defect, High palate, Long philtrum, Atrial septal de...	ORPHA:505237
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Microcepha...	OMIM:100300
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Pier...	OMIM:614921
Alpha-N-Acetylgalactosaminidase Deficiency	Thick vermilion border, Cardiomegaly	ORPHA:3137
C Syndrome	Hepatomegaly, Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, M...	OMIM:211750
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Gingival overgrowth, Macrogl...	ORPHA:96191
Monosomy 13Q14	Microphthalmia, Holoprosencephaly, Hypoplasia of the corpus callosum, Microcephaly	ORPHA:1587
Desbuquois Syndrome	Ventricular septal defect, Small hand	ORPHA:1425
King-Denborough Syndrome	High palate, Deep philtrum, Ventricular septal defect	OMIM:619542
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Short tibia, Hypoplas...	OMIM:616300
Methimazole Embryofetopathy	Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula	ORPHA:1923
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Reduced cerebral white matter volume, Hypoplasia of the brainstem, Sec...	OMIM:614961
Costello Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Thick...	ORPHA:3071
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Open mouth, Ventricular septal defect, Short philtrum	OMIM:301039
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Ventricular septal defect,...	OMIM:619306
Atelis Syndrome 2	Micrognathia, Diastema, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Downturned cor...	OMIM:620185
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow...	ORPHA:2789
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abn...	ORPHA:477817
Fontaine Progeroid Syndrome	Atrial septal defect, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Absent nipple, Microce...	OMIM:612289
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, Abnormality of t...	ORPHA:251028
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, High palate, Long phi...	OMIM:616652
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Ventricular septal defect, Micromelia, Long philtrum, Atrial septal defect, Pa...	OMIM:618870
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Microcephaly, Anencephaly, Primary hypothyroidism, Agenesis of cor...	ORPHA:96176
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Micrognathia, Cleft lip, Dental malocclusion,...	OMIM:616894
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Micrognathia, Cleft palate, Long philtrum	ORPHA:2505
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Aplasia/Hypoplasia ...	ORPHA:2143
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ...	ORPHA:3464
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morphology, Umbilical ...	ORPHA:254534
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate	ORPHA:85284
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Short palm, Pericardial lymphangiectasia, Ventricular septal defect, P...	OMIM:235510
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm...	ORPHA:861
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cleft palate, Downturned corners of mout...	OMIM:614230
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Downturned corners of mouth,...	ORPHA:284160
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Micro...	OMIM:605039
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Bicuspid aortic valve	OMIM:617168
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Atrial Septal Defect, Ostium Primum Type	Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement, Right atrial...	ORPHA:99106
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micrognathia	OMIM:610756
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingi...	OMIM:212066
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c...	OMIM:250790
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect	OMIM:263630
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Chromosome 18Q Deletion Syndrome	U-Shaped upper lip vermilion, Thin upper lip vermilion, Mandibular prognathia, Absence of the pul...	OMIM:601808
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Microgna...	OMIM:309500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro...	OMIM:618727
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a...	OMIM:142900
Robinow Syndrome	Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Pe...	ORPHA:97360
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B...	ORPHA:1942
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Protruding tongue, High palate, Short philtrum...	OMIM:300963
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hypoplasia of the calcaneus, Microphthalmia, Distal shortening of l...	OMIM:300863
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Congenital hypothyroidism, Cerebellar hypoplas...	OMIM:606519
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cryptorchidism, Hypoplasia of the olfactory bulb, Hypogonadism, Microphthalmia	ORPHA:2250
Ogden Syndrome	Microretrognathia, High, narrow palate, Everted upper lip vermilion, Ventricular septal defect	ORPHA:276432
Prader-Willi Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:176270
Velocardiofacial Syndrome	Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Partial anomalous pulmo...	OMIM:301044
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cleft palate, Anteriorly placed anus, Colonic atresi...	OMIM:309801
Orofaciodigital Syndrome Type 2	Micrognathia, High palate, Short tibia, Atrioventricular canal defect, Hamartoma of tongue, Adact...	ORPHA:2751
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Left ...	OMIM:209900
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Anal stenosis, Short humerus, Ventricular septal defect, Optic disc hypop...	OMIM:607323
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormally large globe, Secundum atrial sept...	OMIM:249420
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp...	ORPHA:264200
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Clef...	OMIM:300000
Joubert Syndrome 37	Microphthalmia, High palate, Hepatomegaly	OMIM:619185
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, High palate, Thick vermilion border, Short sternum, Retrognathia, Pate...	OMIM:620113
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Congenital hypothy...	ORPHA:2519
Keutel Syndrome	Ventricular septal defect, Recurrent sinusitis, Short distal phalanx of finger	ORPHA:85202
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Short thumb, Cleft palate, Esophagitis,...	OMIM:612562
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
Diamond-Blackfan Anemia 10	Malar flattening, Ventricular septal defect, Cleft palate, Micrognathia	OMIM:613309
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan...	ORPHA:330015
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Retrognathia, Ventricular septal defect, Bifid uvula	OMIM:300472
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microcephaly, Atrial septal defect, Microphthalmia, Leukemia	ORPHA:2526
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Fl...	ORPHA:365
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum	OMIM:616395
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Cerebral calcifi...	OMIM:620024
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo...	ORPHA:289
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect	OMIM:219730
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Absent septum pellucidum, Dysplastic corpus callosum, Cryptorchidism, Secondary mic...	OMIM:618820
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Adams-Oliver Syndrome 2	Microphthalmia, Short middle phalanx of finger, Micrognathia	OMIM:614219
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Steatorrhea, Persistence of hemo...	OMIM:260400
Prune Belly Syndrome	Ventricular septal defect, Intestinal malrotation, Atrial septal defect, Volvulus, Tetralogy of F...	ORPHA:2970
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Hypoplastic frontal sinuses, S...	OMIM:300712
Refsum Disease	Splenomegaly, Microphthalmia, Short metacarpal, Cardiomyopathy	ORPHA:773
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short palm, Microretrognathia, Bicuspid aortic v...	ORPHA:508498
Carpenter Syndrome 1	Ventricular septal defect, Persistence of primary teeth, Micrognathia, Hypoplasia of the maxilla,...	OMIM:201000
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognathia, Cleft palate, Hi...	OMIM:130720
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Sub...	ORPHA:457279
Fabry Disease	Abnormal endocardium morphology, Abnormal aortic valve morphology, Delayed puberty, Left ventricu...	ORPHA:324
Chime Syndrome	Short palm, Ventricular septal defect, Abnormal dental morphology, Aplastic clavicle, Abnormality...	ORPHA:3474
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Wide mouth, Thin vermilion border, Solitary median maxillary central i...	ORPHA:217346
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Downturned corners o...	OMIM:617360
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Microcephaly, Acute lymphoblastic leukemia, T lymphocytop...	OMIM:208900
Ring Chromosome 7 Syndrome	Microcephaly, Situs inversus totalis, Hydrocele testis, Hypogonadism, Holoprosencephaly, Cerebral...	ORPHA:1449
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Hydrocephalus, Abnormality of the ...	ORPHA:2969
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cleft palat...	OMIM:614294
Mosaic Trisomy 20	Ventricular septal defect, Micrognathia, Cleft lip, Dysplastic tricuspid valve, Cleft palate, Abn...	ORPHA:1724
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Th...	OMIM:301056
19P13.12 Microdeletion Syndrome	Short palm, Ventricular septal defect, Cleft palate, Thin vermilion border, Hypodontia, Long phil...	ORPHA:254346
Noonan Syndrome 4	Ventricular septal defect, Dental malocclusion, Wide mouth, Thick vermilion border, Pulmonic sten...	OMIM:610733
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ...	OMIM:300952
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Focal Dermal Hypoplasia	Abnormal dental morphology, Ventricular septal defect, Abnormal dental enamel morphology, Abnorma...	ORPHA:2092
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Leopard Syndrome 1	Mandibular prognathia, Missing ribs, Complete atrioventricular canal defect, Cleft palate, Mitral...	OMIM:151100
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect, Microcephaly	OMIM:610832
Weill-Marchesani Syndrome 1	Ventricular septal defect, Hypoplasia of the maxilla, Microspherophakia, Tooth malposition, Narro...	OMIM:277600
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ...	ORPHA:1507
Warburg Micro Syndrome 3	Downturned corners of mouth, Microphthalmia, Narrow palate, Micrognathia	OMIM:614222
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach...	OMIM:109400
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Anteriorly placed anus, Short clavicles, Short femoral neck, Atrial se...	OMIM:617159
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mckusick-Kaufman Syndrome	Ventricular septal defect, Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Hypopl...	ORPHA:2473
Mend Syndrome	Asymmetry of the mouth, Micrognathia, Cleft palate, Abnormal heart morphology, High palate, Micro...	ORPHA:401973
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Ventricular septal defect, Dental crowdin...	OMIM:300373
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly	ORPHA:158687
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia	OMIM:615877
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Aplasia/Hypoplasia of ...	ORPHA:989
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Ventricular septal defect, Aganglionic megacolon, ...	OMIM:229850
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Mitral valve prolapse, High palat...	OMIM:121050
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Ventricular septal defect, Micrognathia, Short distal phalanx of the 5th finger...	OMIM:620073
Digeorge Syndrome	Ventricular septal defect, Parathyroid agenesis, Decreased circulating parathyroid hormone level,...	OMIM:188400
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Ventricular septal defect, De...	OMIM:300998
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Diabetes ins...	ORPHA:423479
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion,...	OMIM:139210
Cranioectodermal Dysplasia 2	Hepatomegaly, Splenomegaly, Bile duct proliferation, Polysplenia, Atrial septal defect, Left vent...	OMIM:613610
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Microcephaly,...	ORPHA:96149
Ohdo Syndrome, X-Linked	Hiatus hernia, Micrognathia, Short thumb, Thin vermilion border, High palate, Widely spaced teeth...	OMIM:300895
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect, Micrognathia	ORPHA:3078
Frontorhiny	Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Microphthalmia, Bifid tongue	ORPHA:391474
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick...	ORPHA:2126
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Aganglionic megacolon, Trismus, Cleft...	OMIM:154400
Lissencephaly 8	Microphthalmia	OMIM:617255
1Q21.1 Microdeletion Syndrome	Short foot, Abnormal cardiac septum morphology, High palate, Long philtrum, Microphthalmia, Ankyl...	ORPHA:250989
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphol...	ORPHA:534
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Cleft lip, Ventricular septal defect, Cleft palate	OMIM:611812
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati...	OMIM:615582
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Deep philtrum, Short ribs, Micromelia, Cardiomegaly	OMIM:613320
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Unilateral microphthalmos	OMIM:615085
Adams-Oliver Syndrome	Abnormal pulmonary valve morphology, Absent toe, Esophageal varix, Absent hand, Microphthalmia, T...	ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:256550
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Micrognathia, Cleft palate, Wide...	OMIM:243605
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Zellweger Syndrome	Hepatomegaly, Ventricular septal defect, Malabsorption, Micrognathia, Pyloric stenosis, Abnormali...	ORPHA:912
Townes-Brocks Syndrome 1	Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial...	OMIM:107480
Fanconi Anemia, Complementation Group R	Microphthalmia, Absent thumb, Anal atresia, Agenesis of permanent teeth	OMIM:617244
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Abnormality of the dentition, Broad philtrum, Conical tooth	ORPHA:228390
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Short femur, Truncus arteriosus, Optic nerve hypopla...	ORPHA:508488
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Micrognathia, Cardiomyopathy, Hypertrophic cardiomyop...	OMIM:605275
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Cardiomegaly	OMIM:266500
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia	OMIM:167730
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Ventricular septal defect, Protruding tongue, Diastema, Absent frontal sin...	OMIM:301040
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate, Atrial septal...	OMIM:609945
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Cleft upper lip, Cleft palate, Atrial septal defect, ...	ORPHA:2008
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ...	OMIM:608978
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno...	OMIM:608013
Frontofacionasal Dysplasia	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:1791
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Filippi Syndrome	Thin vermilion border, Ventricular septal defect, Short philtrum	ORPHA:3255
Phaver Syndrome	Myelomeningocele, Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Ventricular septal defect, Coro...	OMIM:619472
Focal Dermal Hypoplasia	Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Microcephaly, Supernumerary nippl...	OMIM:305600
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Cantú Syndrome	Abnormal heart valve morphology, Short hallux, Cardiomegaly, Wide mouth, Thick vermilion border, ...	ORPHA:1517
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Ventricular septal ...	ORPHA:261494
Microphthalmia With Limb Anomalies	Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Micrognathia, Hypoplasia of the maxil...	ORPHA:1106
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Micrognathia, Cleft lip, Furrowed tongue, High palate, Broad alveolar ...	OMIM:616975
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, Atrial septal defect, Microphthalmia, Duoden...	OMIM:603467
Pelvis-Shoulder Dysplasia	Microphthalmia, Hypoplastic scapulae, Short clavicles	OMIM:169550
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Ventricular septal defect, Micrognathia, Short philtrum, At...	ORPHA:52
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Partial agenesis of the corpus callos...	OMIM:222448
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Ventricular septal defect, Micrognathia, Thick vermilion border, Short distal p...	OMIM:250410
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Short thumb, Supernumerary tooth,...	OMIM:268400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Microphthalmi...	ORPHA:306542
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Microphthalmia, Congenital a...	ORPHA:137675
Thakker-Donnai Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal f...	ORPHA:1780
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent ...	ORPHA:488618
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:616777
Micro Syndrome	Microphthalmia, High palate, Short philtrum, Micrognathia	ORPHA:2510
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Flexion contracture, Left vent...	OMIM:619127
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor	ORPHA:363618
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence...	ORPHA:955
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Short...	ORPHA:2438
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cleft palate, Abnormal heart morphology, Downtu...	ORPHA:453499
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Distal 22Q11.2 Microdeletion Syndrome	Short palm, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Pyloric ste...	ORPHA:261330
Bartsocas-Papas Syndrome 1	Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Hypoplasia of the maxilla...	OMIM:263650
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Rhizomelia, Micrognathia, Subvalvular aortic stenosis, Narrow mouth, A...	OMIM:614114
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Ventricular septal defect, Micrognathia, Cleft lip, Tracheoesophag...	ORPHA:2745
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Hemochromatosis, Type 1	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:235200
Gm1 Gangliosidosis	Mandibular prognathia, Ventricular septal defect, Splenomegaly, Gingival overgrowth, Abnormal hea...	ORPHA:354
Trichorhinophalangeal Syndrome, Type Ii	Scapular winging, Bicuspid aortic valve, Microcephaly, Bilateral cryptorchidism, Partial anomalou...	OMIM:150230
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpho...	ORPHA:2710
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Microcephaly, Cryptorchi...	OMIM:227645
Cerebellofaciodental Syndrome	Ventricular septal defect, Dental malocclusion, Shortening of all distal phalanges of the fingers...	OMIM:616202
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Pyloric stenosis, Cleft palate...	OMIM:610443
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Micrognathia	OMIM:617306
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia of the maxil...	ORPHA:79345
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Cardiac fibroma, Oro...	ORPHA:77301
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Microcephaly, Partial agenesis of the corpus callosum, Partial anomalo...	OMIM:617478
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia	ORPHA:2714
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, C...	OMIM:600001
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Diaste...	OMIM:244450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Type 1 muscle fiber atrophy, Cerebral atrophy, Type 2 muscle fiber predominan...	OMIM:619036
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Micromelia, Cleft...	OMIM:122470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft p...	OMIM:263520
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Micrognathia, S...	OMIM:105650
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Coronary sinus enlargement, Micrognathia, Narrow philtrum, Thick vermi...	OMIM:619268
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Mitral atresia, Microcephaly, Partial agenes...	OMIM:220111
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Parti...	ORPHA:185
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Short metacarpal, Short hallux, Micrognathia, Agenesis of mandibular central i...	OMIM:268305
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Microcep...	ORPHA:209905
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol...	ORPHA:371428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Cardiomegaly	OMIM:201475
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the maxilla, Small hand, Oligodon...	OMIM:609460
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestina...	OMIM:270100
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, Esophageal atresia,...	OMIM:164280
Mosaic Trisomy 16	Ventricular septal defect, Short thumb, Abnormal heart morphology, Anteriorly placed anus, Wide m...	ORPHA:1708
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:600460
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia	OMIM:600901
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Microdontia, Micrognathia, Small hand, Thick vermilion border, Atrial septal de...	OMIM:620005
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Tracheoesophag...	OMIM:614083
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Short foot, ...	OMIM:601812
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Micrognathia, Macroglossia, Mesomelia, High palate, Narrow mouth, Pate...	OMIM:613457
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Retrognathia, Downturne...	OMIM:301030
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Ventricular septal defect, Carious teeth, Small h...	OMIM:619229
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Micrognathia, Situs inversus totalis, Pyloric stenosis, ...	ORPHA:2461
Phelan-Mcdermid Syndrome	Ventricular septal defect, Micrognathia, Dental malocclusion, High palate, Widely spaced teeth, L...	OMIM:606232
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Microphthalmia, Syndromic 6	Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Anterior hyp...	OMIM:607932
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl...	ORPHA:568
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Lip pit, Hypodontia, Microphthalmia, Abnormal palate morphology	ORPHA:1236
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Male hypogonadism, Obesity	OMIM:619471
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul...	OMIM:610978
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening...	OMIM:613717
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h...	ORPHA:453504
Femoral-Facial Syndrome	Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Ventric...	OMIM:134780
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h...	ORPHA:352665
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Mitral v...	ORPHA:444072
Warburg Micro Syndrome 4	Microphthalmia, Long philtrum, Narrow mouth	OMIM:615663
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Microspherophakia, Tooth ...	OMIM:608328
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c...	OMIM:223370
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short metacarpal, Ventricular septal defect, Micrognathia	ORPHA:166035
3Mc Syndrome 1	Ventricular septal defect, Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Short foot,...	OMIM:257920
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia	OMIM:227650
X Small Rings	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Upper limb undergrowt...	ORPHA:96201
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Hypoplasia of ...	OMIM:264090
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Wide ...	OMIM:618454
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es...	OMIM:101200
Fanconi Anemia	Meckel diverticulum, Hypoplasia of the ulna, Aganglionic megacolon, Micrognathia, Aplasia/Hypopla...	ORPHA:84
Fraser Syndrome	Encephalocele, Anophthalmia, Microcephaly, Cryptorchidism, Myelomeningocele, Umbilical hernia, Mi...	ORPHA:2052
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia...	OMIM:600373
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Ventricular septal de...	ORPHA:79328
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Ankyloglossia	OMIM:602361
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Atr...	ORPHA:3047
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, N...	ORPHA:99867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Deep philtrum, High ...	OMIM:617506
Fucosidosis	Hepatomegaly, Abnormality of the dentition, Cardiomegaly	ORPHA:349
Galloway-Mowat Syndrome 3	Micrognathia, Hiatus hernia, High palate, Narrow mouth, Microphthalmia	OMIM:617729
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Narrow mouth, Malar flattening, Broad philtrum	ORPHA:2463
Chops Syndrome	Ventricular septal defect, High, narrow palate, Splenomegaly, Anomalous pulmonary venous return, ...	OMIM:616368
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly...	ORPHA:26793
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hypoplasia of facial musculatur...	OMIM:164210
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Microretrognathia, Prominence of the premaxilla, Ventricular septa...	OMIM:602535
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Cardiomegaly, Deep philtrum, Gingival overgrowth, Macroglo...	OMIM:618143
Omodysplasia 1	Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Fibular hypoplasia, Hypoplast...	OMIM:258315
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radius, Mesomel...	ORPHA:3103
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell...	ORPHA:2255
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, High palate, Hypoplastic cervical vertebrae	ORPHA:35173
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Short finger, Microphthalmia, Retrognathia, Malar flattening, B...	OMIM:601552
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Ventricular septal defect, Micrognathia, Macroglossia, High palate, Short ...	ORPHA:261337
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,...	ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Wide mouth, Duodenal atresia	OMIM:617798
Liver Disease, Severe Congenital	Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci...	OMIM:619991
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Ventricular septal defect, Protruding tongue, Micrognathia, High, narrow palate, Ma...	OMIM:214100
Ulnar-Mammary Syndrome	Ventricular septal defect, Pyloric stenosis, Absent hand, Ectopic anus, Aplasia/Hypoplasia of the...	ORPHA:3138
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d...	ORPHA:2729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cleft palate, Buphthalmos, Microphthalmia,...	OMIM:236670
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Atrial septal defect, Phocomelia, Atrioventricular canal defect, Hypoplasia of the ...	OMIM:274000
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Hepatomegaly, Ventricular septal defect, Cleft lip, Thick lower lip ve...	OMIM:280000
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption...	ORPHA:50
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Microphthalmia, Triangular mouth, Retrognathia	OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, 11 pairs of ribs, Tented upper lip vermilion, Ventricular septal defect, H...	ORPHA:488632
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Optic disc hypoplasia, Short hallux...	ORPHA:959
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th...	OMIM:229400
Sandhoff Disease	Hepatomegaly, Macroglossia, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Dental m...	OMIM:102500
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Dental crowding, Splenomegaly, Downturned corners of mou...	OMIM:618268
Noonan Syndrome 3	Ventricular septal defect, Mitral valve prolapse, High palate, Pulmonic stenosis, Tricuspid valve...	OMIM:609942
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Tetraamelia Syndrome 1	Micrognathia, Cleft upper lip, Cleft palate, Microphthalmia, Tetraamelia, Anal atresia	OMIM:273395
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ...	OMIM:129900
Degcags Syndrome	Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Hiatus herni...	OMIM:619488
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Abnormal heart morphology, Pulmonic stenosis, Left ventricular hypertrop...	ORPHA:284984
Bohring-Opitz Syndrome	Cardiomegaly, Micrognathia, Cleft lip, Cleft palate, Abnormal cardiac septum morphology, Retrogna...	ORPHA:97297
Galloway-Mowat Syndrome 1	Hiatus hernia, Micrognathia, Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia	OMIM:251300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Cleft upper lip, Short metatarsal, Cleft palate, Hyp...	OMIM:150250
Trichothiodystrophy	Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narro...	ORPHA:33364
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Micrognathia, Diaste...	ORPHA:96121
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:1553
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Micrognathia, Sh...	OMIM:613458
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Microcephaly, Elbow flexion contra...	OMIM:178110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Monosomy 9P	Abnormality of the dentition, Micrognathia, Cleft palate, High palate, Narrow mouth, Microphthalm...	ORPHA:261112
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegaly, Lymphadeno...	OMIM:619418
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip v...	ORPHA:1519
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Anophthalmia, Facial palsy, Supernumerary nipple, Microcephaly, Cr...	OMIM:113620
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ...	ORPHA:99228
Monosomy X	Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ...	ORPHA:99226
Turner Syndrome	Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ...	ORPHA:881
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Short ribs	OMIM:615503
Fucosidosis	Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Thick lower lip v...	OMIM:230000
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Micrognathia, ...	OMIM:620025
Ulnar-Mammary Syndrome	Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th finger, Short 4t...	OMIM:181450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi...	OMIM:271640
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Super...	ORPHA:434179
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Esophageal atresia, Short thumb, Aplasia of the 1st metacarpal, Trac...	OMIM:227646
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Narrow palate, High palate, Enlarged kidney	OMIM:608836
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Su...	OMIM:235730
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Multiple joint contractures...	ORPHA:506
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,...	OMIM:618748
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Craniotubular Dysplasia, Ikegawa Type	Short palm, Ventricular septal defect, Thick lower lip vermilion, Phthisis bulbi, Long philtrum, ...	OMIM:619727
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Micrognathia, Carious teeth, Cleft palate, Narrow mouth, Mi...	OMIM:616734
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ...	OMIM:300855
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Micrognathia, Abnormal heart morphology, Mitral valve prola...	ORPHA:363700
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Pulmonic stenosis, Camptod...	OMIM:613795
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Micrognathia, Hypoplasia of the odontoid proces...	OMIM:252500
Neuroocular Syndrome	Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn...	OMIM:619539
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Cleft palate, Hepatosplenome...	OMIM:614866
Zttk Syndrome	Ventricular septal defect, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cle...	OMIM:617140
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Cardiomegaly	OMIM:620306
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Deep philtrum, Double outlet right ventricle, Downturned corners of mo...	ORPHA:163956
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Thick lower lip v...	ORPHA:1465
Frontonasal Dysplasia 2	Microphthalmia, Widely spaced teeth, Broad philtrum, Conical tooth	OMIM:613451
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Absent ...	ORPHA:464
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Monosomy 22	Aplasia of the thymus, Microcephaly, Hypochromic microcytic anemia, Hepatosplenomegaly, Contractu...	ORPHA:96123
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Cleft upper lip, Micrognathia, ...	OMIM:268300
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Keutel Syndrome	Sinusitis, Ventricular septal defect, Short hallux, Short thumb, Deep philtrum, Shortening of all...	OMIM:245150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Microcephaly, Cryptorchidism, Hydrocephalus, Throm...	ORPHA:163979
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Ventricular septal defect, Di...	ORPHA:459070
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Open mouth, Ventricular septal defect	OMIM:614653
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology	ORPHA:228308
Renal Agenesis	Ventricular septal defect, Anal atresia	ORPHA:411709
De Barsy Syndrome	Delayed eruption of teeth, Ventricular septal defect, Narrow mouth, High palate, Small, conical t...	ORPHA:2962
Tenorio Syndrome	Osteopenia, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	ORPHA:465508
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Rhizomelia, Malar flattening, Hemiatrophy	OMIM:302960
Combined Oxidative Phosphorylation Deficiency 15	Abnormal cerebral white matter morphology, Ventricular septal defect, Ventricular septal hypertro...	OMIM:614947
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormalit...	ORPHA:79329
Alagille Syndrome 1	Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma	OMIM:118450
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hepatomegaly, Ventricular septal defect, Cleft upper lip, High, narrow pal...	ORPHA:373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Delayed eruption of teeth, Short metacarpal, Hypoplasia of the ulna, Ven...	OMIM:143095
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro...	OMIM:308300
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Small hand, Fibular hypoplasia...	ORPHA:444077
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia	OMIM:612109
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym...	ORPHA:83471
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Atria...	OMIM:180849
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Flexion contracture, Abnormal hemoglobin, Anemia	ORPHA:847
Jacobsen Syndrome	Ventricular septal defect, Intestinal malrotation, Missing ribs, Pyloric stenosis, Short toe, Abn...	ORPHA:2308
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Cleft lip, Pyloric stenosis...	ORPHA:1199
Hardikar Syndrome	Hepatomegaly, Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac diseas...	OMIM:301068
Arboleda-Tham Syndrome	Microretrognathia, Thin upper lip vermilion, Mandibular prognathia, Ventricular septal defect, In...	OMIM:616268
Wolf-Hirschhorn Syndrome	Rieger anomaly, Ventricular septal defect, Short hallux, Cleft upper lip, Micrognathia, Short thu...	OMIM:194190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retrognathia, Optic nerve hypoplasia	OMIM:614643
Coffin-Siris Syndrome 1	Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Aplasia/Hypoplasia...	OMIM:135900
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Glycogen Storage Disease Ii	Hepatomegaly, Macroglossia, Splenomegaly, Cardiomegaly	OMIM:232300
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Aicardi Syndrome	Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Missing ribs, Cleft palate, Microph...	OMIM:304050
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Microphthalmia	OMIM:601707
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Noonan Syndrome 1	Ventricular septal defect, Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate, ...	OMIM:163950
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increa...	OMIM:619534
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated c...	ORPHA:79318
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Long philtrum	OMIM:123700
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Anterior pituitary hypoplasia, Microcepha...	ORPHA:464306
Joubert Syndrome 2	Microphthalmia, High palate	OMIM:608091
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Cornelia De Lange Syndrome	Delayed eruption of teeth, Ventricular septal defect, Intestinal malrotation, Micromelia, Microgn...	ORPHA:199
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Microcephaly...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Microcephaly...	ORPHA:363958
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr...	ORPHA:99050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot...	ORPHA:353281
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hepatomegaly, Cardiomegaly, Abnormality of the dentition, Malabsorptio...	ORPHA:581
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Microcephaly, Cryptorchidism, Posterior pit...	ORPHA:464311
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Cockayne Syndrome Type 3	Hepatomegaly, Carious teeth, Splenomegaly, Cardiomyopathy, Microphthalmia, Enamel hypoplasia	ORPHA:90324
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Anteriorly pla...	OMIM:261540
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car...	OMIM:607721
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Coronal craniosynostosis, Abnormality of neutrophil physiol...	ORPHA:2968
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Ventricular septal defect, Short philtrum	OMIM:619575
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Microcephaly, Cryptorchidism, Camptodactyly, Microphthalmia,...	OMIM:309800
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Diets-Jongmans Syndrome	Wide mouth, Thin upper lip vermilion, Ventricular septal defect, Duodenal atresia	OMIM:618846
Kabuki Syndrome 1	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Abnormality of the dentition, M...	OMIM:147920
Costello Syndrome	Ventricular septal defect, Micrognathia, Pyloric stenosis, Thick lower lip vermilion, Mitral valv...	OMIM:218040
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,...	OMIM:182250
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Ventricular septal defect, Microcephaly, Precocious puberty, Diffuse wh...	ORPHA:1934
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Isolated Arrhinia	Microphthalmia, Hypoplasia of the nasal bone	ORPHA:1134
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Micrognathia, Rectal prolapse, Atrial septal defect, Microdo...	ORPHA:904
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate, Pyloric stenos...	ORPHA:268261
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect,...	OMIM:607872
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Short metacarpal, Rhizomelia	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,...	OMIM:253280
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Bicuspid aortic valve, Ventricular septal defect, Dental crowding, Intestinal malrot...	ORPHA:353277
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno...	ORPHA:141127
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Thick vermilion border, Ventricular septal defect, Mitral valve prolapse	OMIM:617107
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Cockayne Syndrome	Hepatomegaly, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Splen...	ORPHA:191
Witteveen-Kolk Syndrome	Microretrognathia, Thin upper lip vermilion, Short palm, High, narrow palate, Short thumb, Thick ...	OMIM:613406
Townes-Brocks Syndrome	Rectoperineal fistula, Abnormal pulmonary valve morphology, Anteriorly placed anus, Wide mouth, A...	ORPHA:857
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Widely spaced t...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Short philtrum,...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Cleft hard palate, Short philtrum,...	ORPHA:261552
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Supernumerary tooth, Tetralo...	OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasi...	OMIM:620330
Yunis-Varon Syndrome	Micrognathia, Short metatarsal, Short philtrum, High palate, Absent hallux, Patent foramen ovale,...	OMIM:216340
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Absent septum pellucidum, Abnormality of the en...	ORPHA:438213
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:618278
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula...	ORPHA:64
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Hepatomegaly, Cardiomegaly, Splenomegaly, Cleft palate, Wide mouth, Macrog...	ORPHA:116
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Macroglossia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Volvulus	OMIM:616682
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Vater/Vacterl Association	Ventricular septal defect, Absent radius, Esophageal atresia, Short thumb, Hypoplasia of the radi...	OMIM:192350
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, High, narrow palate, ...	OMIM:619475
Abetalipoproteinemia	Hepatomegaly, Fat malabsorption, Steatorrhea, Cardiomegaly	ORPHA:14
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Micrognathia, Malrotation of...	OMIM:606170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Carious teeth, Short thumb, Downturned corners of mouth, Short foot, H...	OMIM:619522
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Splenomegaly, Thick lower lip vermilion, Macrog...	OMIM:256040
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Sple...	ORPHA:744
Williams-Beuren Syndrome	Colonic diverticula, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Rectal pro...	OMIM:194050
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Hypochromic microcytic anemia, Aortopulmonary window, Ab...	ORPHA:97214
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Short palm, Atrial septal defec...	OMIM:601803
Penile Agenesis	Ventricular septal defect, Rectal fistula, Tracheoesophageal fistula, Atrial septal defect, Anal ...	ORPHA:49
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Johanson-Blizzard Syndrome	Colonic diverticula, Hepatomegaly, Ventricular septal defect, Malabsorption, Situs inversus total...	OMIM:243800
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
Norrie Disease	Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Thin vermilion border, Microphthalmia, Ma...	ORPHA:649
Sotos Syndrome	Hip contracture, Cerebellar vermis hypoplasia, Ventricular septal defect, Ankle flexion contractu...	ORPHA:821
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Neurodevelopmental Disorder With Microcephaly, Short Stature, And Speech Delay	Microcephaly	OMIM:620027

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 Trappc10

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 Trappc10.

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

Title	Journal	IMPC Allele	PubMed ID
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.	PLoS genetics (March 2022)	Trappc10^{tm1b(KOMP)Wtsi}	35298461
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Trappc10^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Trappc10^{tm1b(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Trappc10^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Trappc10^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Trappc10^{tm1b(KOMP)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Trappc10^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Trappc10^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trappc10 MGI:1336209

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

DSS Histology

X-ray

X-ray

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Trappc10 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data