Gene Summary

Name:
F-box and leucine-rich repeat protein 3
Synonyms:
Fbl3a,  Play68,  Ovtm,  Fbxl3a

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
hydrocephaly Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased liver weight Fbxl3em1(IMPC)Ccpcz HOM Early adult 6.41×10-05
increased circulating chloride level Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.67×10-05
enlarged testis Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating alkaline phosphatase level Fbxl3em1(IMPC)Ccpcz HOM Early adult 6.17×10-06
increased lean body mass Fbxl3Gt(CB0226)Wtsi HOM Early adult 4.98×10-05
abnormal heart morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased spleen weight Fbxl3em1(IMPC)Ccpcz HOM   Early adult 6.39×10-07
decreased erythrocyte cell number Fbxl3Gt(CB0226)Wtsi HOM Early adult 4.76×10-05
abnormal skeletal muscle morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal duodenum morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Fbxl3em1(IMPC)Ccpcz HOM Early adult 4.84×10-05
decreased effector memory T-helper cell number Fbxl3em1(IMPC)Ccpcz HOM Early adult 9.15×10-05
abnormal testis morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating total protein level Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.13×10-05
abnormal retina morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 5.45×10-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

Human diseases caused by Fbxl3 mutations

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

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

The table below shows human diseases associated to Fbxl3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
High palate OMIM:606220

The table below shows human diseases predicted to be associated to Fbxl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Elevated circulating hepatic tran... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Increa... OMIM:267700
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... ORPHA:90362
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Abnormality of the uterus, Pancrea... ORPHA:1655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Pancreatic lymphangiectasis, Splen... OMIM:235255
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased CSF protein concentration, Elevated circulating hepatic transaminase c... OMIM:603553
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Hepatic... OMIM:615895
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia OMIM:221400
Johanson-Blizzard Syndrome
Hypospadias, Abnormal vagina morphology, Anteriorly placed anus, Failure to thrive, Exocrine panc... ORPHA:2315
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Small for gestational age, E... ORPHA:26793
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... ORPHA:2494
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Congenital Disorder Of Glycosylation, Type Iid
Decreased muscle mass, Elevated circulating aspartate aminotransferase concentration, Myopathy, E... OMIM:607091
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Intestinal obstruction, Abnormal intestine morpholo... OMIM:226300
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ij
Elevated circulating hepatic transaminase concentration, Cryptorchidism, Jaundice, Flexion contra... OMIM:608093
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Dengue Fever
Gastrointestinal hemorrhage, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
1Q21.1 Microduplication Syndrome
Hypospadias, Gastroesophageal reflux, Failure to thrive, Tetralogy of Fallot, Cryptorchidism, Hyd... ORPHA:250994
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Megalencephaly
Macroorchidism, Long penis, Atrial septal defect, Truncal obesity ORPHA:2477
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Hypoproteinemia, Small for gestational ... OMIM:256300
Congenital Toxoplasmosis
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive in i... ORPHA:858
Intellectual Developmental Disorder, X-Linked 2
High palate, Macroorchidism OMIM:300428
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Trapezius muscle aplasia, Hydrocephalus OMIM:600257
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Lymph... ORPHA:167
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, A... ORPHA:100025
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Elevated circulating creatine kinase concentration, Calf musc... OMIM:613155
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Infantile Sialic Acid Storage Disease
Failure to thrive, Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, Vacuolated lymphocyte... OMIM:269920
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism, Obesity OMIM:300238
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Protruding tongue, Mitral valve prolapse... ORPHA:324410
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Lujan-Fryns Syndrome
High palate, Macroorchidism, Atrial septal defect, Camptodactyly of finger ORPHA:776
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Hydrocephalus, Oligozoospermia, Increased ci... ORPHA:8
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Polycystic ovaries, Macroorchidism, Truncal obesity, High palate ORPHA:284180
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abnormal peritoneum morphology, Elevated circulatin... ORPHA:180229
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Optic atrophy, Flexion contracture, Hydrocephalus OMIM:300884
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anal atresia, Hypoproteinemia OMIM:260450
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Leukocytosis, ... OMIM:243150
Fragile X Syndrome
Macroorchidism, Gastroesophageal reflux, Mitral valve prolapse ORPHA:908
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Gastroesophageal reflux, Hepatitis, Increased ci... ORPHA:562
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Obesity, Wrist flexion contracture, Macroorchidism, Facial hypotonia, High pal... OMIM:300055
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circul... OMIM:266100
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic... ORPHA:2929
Partington Syndrome
Macroorchidism ORPHA:94083
Clark-Baraitser syndrome
Macroorchidism, Exaggerated median tongue furrow, Obesity OMIM:300602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis, Obesity, Hypoalbuminemia ORPHA:88643
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Hypertrophic ca... OMIM:212140
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pa... OMIM:610333
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Retinal... ORPHA:79320
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Increased circulating prolactin concentration, Go... ORPHA:90674
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogona... ORPHA:398079
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Elevated circulating hepatic transaminase con... OMIM:614576
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal ... ORPHA:90790
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Fried Syndrome
High palate, Abnormal optic nerve morphology, Skeletal muscle atrophy, Hydrocephalus ORPHA:85335
Mirage Syndrome
Hypospadias, Gastroesophageal reflux, Microphallus, Lymphopenia, Leukopenia, Decreased testicular... OMIM:617053
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Ventriculomegaly, Retinal dysplasia, C... ORPHA:272
Triploidy
Intestinal malrotation, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancre... ORPHA:3376
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Decreased muscle mass, Portal hyper... ORPHA:465508
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum testosterone concentration, Decreased serum estradiol, Hypothalamic gonadotropin-... OMIM:618841
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Optic disc hypoplasia, Hypogonadism, Ventricular septal defect... OMIM:300514
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Elevated stool chloride content, Hypokalemia, Hyponatremia, Hypochloremia, Inc... OMIM:214700
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholest... OMIM:608104
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa... OMIM:201475
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased testicular size, Obesity, Cryptorchidism, Hypercholest... OMIM:616222
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hyperammonemia, ... OMIM:600649
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl... ORPHA:381
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Muscular dystrophy, Ventriculomegaly, Occipital encephalocele, Optic nerve hypopla... ORPHA:370959
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Muscular dystrophy, Retinal dysplasia, Hydrocephalus OMIM:614830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ve... OMIM:613153
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Walker-Warburg Syndrome
Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ... ORPHA:899
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Abnormal heart morphology, Macular hypoplasia, Colpocephaly, Hyd... ORPHA:2185
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Villous atrophy, Hyperlipidemia, ... OMIM:615863
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Cholestasis, Obesity, Splenomegaly, Ventricu... OMIM:615630
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Ankyloglossia, Mitral valve prolapse, Bilateral cleft palate, Macroorchidism, ... OMIM:618874
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chori... OMIM:619111
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Hypogonadism, Obesity, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy OMIM:601794
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Diencephalic Syndrome
Optic atrophy, Long penis, Decreased body weight, Cachexia, Hydrocephalus ORPHA:1672
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Hypogonadism, Absence of puber... ORPHA:398069
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Cryptorchidism, Frontal encephalocele ORPHA:261102
B4Galt1-Cdg
Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated circulating creat... ORPHA:79332
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Macroorchidism, Atrial septal defect, High palate, Flexion contracture OMIM:309520
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy, Failure to thrive ORPHA:26
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Splenomegaly, Cardiomegal... OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... OMIM:619064
Aromatase Deficiency
Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Hyperlipidemia, Cryptorchidis... ORPHA:91
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Failure to thrive... OMIM:602579
Pierson Syndrome
Skeletal muscle atrophy, Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hyp... OMIM:609049
Secondary Short Bowel Syndrome
Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A... ORPHA:95427
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Hydro... OMIM:615181
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Dilated third ventricle, Increased endomysial connective tissu... OMIM:613154
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Elevated circulating creatinine concentrati... ORPHA:29073
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Obesity, Mitral valve prolapse, Hydrocephalus, Hypergonadotropi... ORPHA:2183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Muscular dystrophy, Occipital encephalocele, Hydrocephalus, Retinal dysplasia ORPHA:324416
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Congenital diaphra... ORPHA:2075
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Ventriculomegaly, Duodenal atresia, Polysp... OMIM:617784
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptor... ORPHA:1926
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, A... ORPHA:85451
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Ventriculomegaly, Abnormal heart morphology, Cryptorchidism, Campt... OMIM:175700
Trisomy 20P
Camptodactyly of finger, Cryptorchidism, Ectopic anus, Spina bifida, Macroorchidism, Hypospadias ORPHA:261318
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Anemia, Duode... ORPHA:3405
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Hypocalcemia, Hydrocephalus, Micropenis, Asplenia, Hypoplastic ... OMIM:602361
Refsum Disease, Classic
Increased CSF protein concentration, Cardiomyopathy, Elevated circulating phytanic acid concentra... OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased CSF lactate, Protein-losing enteropathy, Hyperglycinemia, Increased CSF alanine concent... OMIM:619063
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Small for gestational age, Bifid scrotum, Cryptorchidism, Pulmonic stenosis, Am... OMIM:257300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Optic atrophy, Hydrocephalus OMIM:619470
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Cryptorchidism... OMIM:618440
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Hydrocephalus, Cleft palate OMIM:258320
Fryns Syndrome
Ventriculomegaly, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Cryptorch... ORPHA:2059
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Failu... ORPHA:79319
3C Syndrome
Aortic valve stenosis, Chorioretinal coloboma, Abnormal mitral valve morphology, Ventricular sept... ORPHA:7
Leptospirosis
Hepatitis, Macular cotton wool spot, Chorioretinitis, Rhabdomyolysis, Retinal hemorrhage, Elevate... ORPHA:509
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Dextrocardia
Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotatio... ORPHA:1666
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Quadriceps muscle weakness, Hand muscle weakness, Distal lower limb amyotrophy, Fo... ORPHA:99947
Neonatal Lupus Erythematosus
Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina... ORPHA:398124
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Abnormalit... ORPHA:2070
Mulibrey Nanism
Ventriculomegaly, Microglossia, Pigmentary retinopathy, Cardiomegaly, Pericardial constriction, H... OMIM:253250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Hypothalamic gonad... ORPHA:2235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Retinal dyspl... OMIM:253800
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Cardiomyopathy, Decreased liver function, Abnormal h... ORPHA:79327
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Conj... OMIM:601847
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Elevated circulating as... OMIM:620609
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Failure to thrive, Increased CSF lactate, Elevated circulating 2... OMIM:616034
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Failur... OMIM:614096
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Abnormal morphology of female internal genitalia, Abnormality of the spl... ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hype... OMIM:614702
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... OMIM:619377
Muscle-Eye-Brain Disease
Optic atrophy, Myopathy, Elevated circulating creatine kinase concentration, Hydrocephalus, Menin... ORPHA:588
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... ORPHA:115
Primary Ciliary Dyskinesia
Ventriculomegaly, Polysplenia, Atrial situs ambiguous, Intestinal malrotation, Abnormal heart mor... ORPHA:244
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, Anemia, Pericarditis ORPHA:163596
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Hep... OMIM:259700
Emanuel Syndrome
Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Failure to thrive, Intestinal m... OMIM:609029
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrah... OMIM:211600
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Hy... OMIM:619051
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital... ORPHA:1335
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Hydrocephalus, Hypospadias ORPHA:141333
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma... OMIM:614886
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Increased CSF lactate, Hyperammonemia, Retinal degene... ORPHA:391428
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... ORPHA:57777
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hypospadias, Pyloric ... OMIM:218350
Stromme Syndrome
Accessory spleen, Retinal vascular tortuosity, Intestinal malrotation, Myopathy, Jejunal atresia,... OMIM:243605
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Abnormal retinal morphology, Dysphagia, Hypoplastic s... ORPHA:89844
Abetalipoproteinemia
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Myopathy, Cirrhosis, Rod-cone dystrophy, H... ORPHA:14
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp... ORPHA:1759
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... ORPHA:1359
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Decreased tes... ORPHA:90794
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Obesity, ... ORPHA:254516
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Celiac disease, Optic atrophy, Hydrocephalus OMIM:248000
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hydroc... OMIM:310400
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A... OMIM:229850
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Failure to thrive, Microphallus, Decreased response to growth hormon... OMIM:603467
Glycogen Storage Disease Ii
Firm muscles, Limb muscle weakness, Splenomegaly, Elevated circulating creatine kinase concentrat... OMIM:232300
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Leydig cel... OMIM:308750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Ventricul... ORPHA:228308
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:602501
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly,... OMIM:309900
Pseudo-Torch Syndrome 3
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit... OMIM:618886
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:620376
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Intestinal malrotation, Decreased testicular size, Cleft soft palate, Leukocytosis... OMIM:619321
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality... ORPHA:2169
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Dilated fourth ventricle, Situs inversus totalis, Patent f... OMIM:620642
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t... ORPHA:860
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Alobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:93924
Semilobar Holoprosencephaly
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism... ORPHA:220386
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Ventriculomegaly, Abnormal circulating ceruloplasmin c... OMIM:620306
Emanuel Syndrome
Aortic valve stenosis, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect... ORPHA:96170
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic... OMIM:618052
Whipple Disease
Gastrointestinal hemorrhage, Splenomegaly, Hyponatremia, Hepatomegaly, Myositis, Cachexia, Hydroc... ORPHA:3452
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic trans... OMIM:614921
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Bilateral cryptorchidism, Atrioventricu... ORPHA:2409
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Secundum atrial septal defect, Polycythemia... ORPHA:870
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational ag... OMIM:601678
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Elevated circu... OMIM:617713
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Hypoplastic female external genitalia, Cryptorchidism OMIM:618577
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... ORPHA:103910
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatic failure, Ventriculomegaly, Extramedullary hematopoiesis, Hepatosplenomegal... OMIM:259720
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Vitreous floaters, Cardiomyopathy ORPHA:85447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Muscular dystrophy, Ventriculomegaly, Congenital contracture, Occipital encephaloc... OMIM:236670
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Accumulation of lip... OMIM:246700
Albers-Schönberg Osteopetrosis
Optic atrophy, Hypocalcemia, Abnormal leukocyte morphology, Hydrocephalus, Anemia, Facial palsy ORPHA:53
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Cryptorchidism, Pulmonic stenosis ORPHA:2701
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, EMG: myopathic abnormalities, Ambiguous genitalia, Hypop... ORPHA:280200
Congenital Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Abnormal heart morphology, Hepatosplenomegaly, Prot... ORPHA:93400
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas... ORPHA:157
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Dandy-Walker malfo... OMIM:611134
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hydrocephalus, Retinitis OMIM:615862
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Hydroce... ORPHA:77298
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrop... OMIM:619381
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Hydrocephalus, Cleft palate, Op... ORPHA:85284
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Ventriculomegaly, Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Intesti... ORPHA:1052
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Pigmentary retinopathy, Anteriorly placed anus, C... OMIM:309801
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Gaucher Disease
Aortic valve calcification, Cherry red spot of the macula, Pancytopenia, Cirrhosis, Hepatomegaly,... ORPHA:355
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Chorioretinal coloboma, Hydrocephalus, Dysphagia, Dandy-Wa... ORPHA:163961
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Hec Syndrome
Cardiomyopathy, Endocardial fibroelastosis, Abnormal retinal vascular morphology, Vaginal hydroce... ORPHA:2119
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Ventriculomegaly, Gastroesophageal reflux, Smal... ORPHA:464311
Meckel Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Encephalocele, Male pseudohermaphroditism, Lobar hol... ORPHA:564
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Failure to thrive, Chorioretinal coloboma, Cryptorchidism, Ventr... OMIM:147791
Fg Syndrome Type 1
Small pituitary gland, Ventriculomegaly, Abnormal large intestine morphology, Gastroesophageal re... ORPHA:93932
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas ORPHA:1305
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Stormorken Syndrome
Howell-Jolly bodies, Myopathy, Elevated circulating creatine kinase concentration, Thrombocytopen... OMIM:185070
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Failure to thrive, Decreased response to growth hormone stimulation test, Crypt... OMIM:609757
Trisomy 1Q
Small scrotum, Ventriculomegaly, Camptodactyly of finger, Cryptorchidism, Congenital diaphragmati... ORPHA:261344
Kleeblattschaedel
Hydrocephalus OMIM:148800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Cryptorchidism, Hydrocephalus, Micropenis, Hypospadias ORPHA:171839
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Failure to thrive, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, V... OMIM:612938
Intellectual Developmental Disorder, Autosomal Dominant 70
Failure to thrive, Hyponatremia, Retinal detachment, Hydrocephalus, Retinal telangiectasia, Optic... OMIM:620157
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Retin... ORPHA:2969
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy... ORPHA:79330
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele ORPHA:1528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Retinal degeneration, Elevated circulating creatine kinase concentration, Hyd... OMIM:615249
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Failure to thrive,... OMIM:214950
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Isolated Biliary Atresia
Periportal fibrosis, Small for gestational age, Elevated circulating hepatic transaminase concent... ORPHA:30391
Bartter Syndrome Type 4
Small for gestational age, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyponatremia, Severe f... ORPHA:89938
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Tetralogy of Fallot, Leukopenia, Abnormal pulmona... ORPHA:974
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Feingold Syndrome 1
Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Jejunal atresia, Ventricular... OMIM:164280
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Chorioretinal atrophy, Hydrocephalus, Dandy-Walk... OMIM:220220
Krabbe Disease
Increased CSF protein concentration, Optic atrophy, Failure to thrive, Hydrocephalus, Autoimmune ... OMIM:245200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Abnormal heart morphology, Hypertrop... ORPHA:505248
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Congenital d... OMIM:601186
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventriculomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropeni... OMIM:616897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased serum testosterone concentration, Hypothalamic gonadotropin-releasing hormone deficienc... OMIM:308700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Ventriculomegaly, Failure to thrive, Hepatocellular necrosis, Hepatosple... OMIM:618278
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, ... OMIM:259710
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Retinal degeneration, Hydroc... OMIM:272200
Plasminogen Deficiency, Type I
Ventriculomegaly, Decreased level of plasminogen, Hydrocephalus, Duodenal ulcer, Dandy-Walker mal... OMIM:217090
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Facial hypotonia, Elevated circulating creatine k... ORPHA:308552
Proteus Syndrome
Retinal nonattachment, Long penis, Thymus hyperplasia, Decreased muscle mass, Chorioretinal colob... ORPHA:744
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Pericardial lymphangi... OMIM:235510
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Ventriculomegaly, Decreased testicular size, E... ORPHA:261534
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... OMIM:175500
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Cryptorchidism, Congenital diaphragmatic herni... ORPHA:2162
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Small for gestational age... ORPHA:1199
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Optic Pathway Glioma
Precocious puberty, Optic atrophy, Papilledema, Hydrocephalus ORPHA:2086
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Hydrocephalus OMIM:618174
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Gastrointestinal dysmotility, ... OMIM:617798
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Increased CSF lactate, Leukocytosis, Left ventricular hypertrophy, Hypercholeste... ORPHA:90065
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... OMIM:270100
Immunodeficiency 87 And Autoimmunity
Cholestasis, Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ... OMIM:619573
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Ventriculomegaly, Gastroesophageal reflux, Small for gestational age, Fail... ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Ventriculomegaly, Elevated ci... OMIM:616538
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilata... OMIM:620371
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Camp... ORPHA:168569
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate, Hydrocephalus, Ventriculomegaly OMIM:304100
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia, Hydrocephalus, Ventriculome... ORPHA:2770
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Precocious puberty, Gastroesophageal reflux, Failure to thrive, Ankyloglossi... OMIM:619950
Immunodeficiency 31C
Protein-losing enteropathy, Skeletal muscle atrophy, Lymphopenia, Villous atrophy, Autoimmune hem... OMIM:614162
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Occipital encephalocele, Chorioretinal c... ORPHA:1454
Hypoplasminogenemia
Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube morphology, Hyd... ORPHA:722
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Pseudotrisomy 13 Syndrome
Holoprosencephaly, Median cleft palate, Complete atrioventricular canal defect, Cryptorchidism, V... OMIM:264480
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricul... ORPHA:139466
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Optic disc coloboma, Abnormal large intestinal muco... ORPHA:92050
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Elevated circulating palmitoleylca... ORPHA:79282
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Ventriculomegaly, Gastroesophageal reflux, Failure to thrive, Colpocephaly, Distal... OMIM:619833
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Czeizel-Losonci Syndrome
Myelomeningocele, Hypoplastic nipples, Tracheoesophageal fistula, Hydrocephalus, Dextrocardia, Sp... ORPHA:2437
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Abnormal heart morphology, Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Splenomegaly, Hydrocephalus, Hepatomegaly ORPHA:585
Meckel Syndrome, Type 1
Occipital encephalocele, Cryptorchidism, Anal atresia, Bile duct proliferation, Malformation of t... OMIM:249000
Alexander Disease Type I
Hydrocephalus, Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,... OMIM:241200
Sandhoff Disease
Skeletal muscle atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Cardiomegaly, Hepatom... OMIM:268800
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Hydrocephalus OMIM:615191
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomegaly ORPHA:99931
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ... ORPHA:913
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism... ORPHA:2470
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Congenital diaphragmatic hernia, Mitral valve prolapse, Abnormal vitreous h... ORPHA:2556
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Bone marrow hypocellularity, Ventriculomegaly, Ann... ORPHA:2308
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, Atrial septal defect, High palate, ... ORPHA:84
Distal Triplication 15Q
Abnormal heart morphology, Large for gestational age, Atrial septal defect, Dandy-Walker malforma... ORPHA:314588
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Villous atrophy, Failure to thrive, Crypt hyperplasia OMIM:613217
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Supernumerary nipple, Camptodactyly of finger, Cryptorchidism, Mic... OMIM:619951
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Ventriculomegaly, Microphallus, Camptodactyly of finger, Attenuation o... ORPHA:468631
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ventriculomegaly, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Spleno... OMIM:608013
Charge Syndrome
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... OMIM:214800
Knobloch Syndrome
Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Abnormal vitreous humor morphol... ORPHA:1571
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Alobar holoprosencephaly, Semilobar holoprosence... OMIM:301043
Hurler Syndrome
Cardiomyopathy, Hepatosplenomegaly, Endocardial fibroelastosis, Splenomegaly, Retinal degeneratio... OMIM:607014
Desmosterolosis
Total anomalous pulmonary venous return, Joint contracture of the hand, Abnormal circulating chol... OMIM:602398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Muscular dystrophy, Encephalocele, Elevated circulating creatine kinase concent... OMIM:614643
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Ventriculomegaly, Skeletal muscle atrophy, Cryptorchidism, Ambiguous genitalia, Hy... OMIM:614969
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Hydrocephalus, Micropenis, Anterior hypopituitarism, Cleft... OMIM:241800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Anteriorly placed anus, Bifid scrotum, Cryptorchidism, Prominent scrotal raphe, Ab... ORPHA:1555
Abetalipoproteinemia
Acanthocytosis, Retinopathy, Abetalipoproteinemia, Retinal degeneration, Fat malabsorption OMIM:200100
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Ventricular septal defect, Cardio... OMIM:618798
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal tendon morphology, Hypertrophic cardiomyopathy, Abnormal heart valve morp... ORPHA:579
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Lateral ventricle dilatation, Optic nerve compression, Splenomegaly, Hepatomegaly,... OMIM:612301
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Skeletal muscle atrophy, Hydrocephalus, Macrogloss... ORPHA:261290
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Syndromic Diarrhea
Abnormality of iron homeostasis, Hepatic fibrosis, Abnormal heart morphology, Lymphopenia, Tetral... ORPHA:84064
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Desmosterolosis
Bifid uvula, Ventriculomegaly, Failure to thrive, Intestinal malrotation, Splenomegaly, Submucous... ORPHA:35107
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Hypoplas... OMIM:617022
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... ORPHA:555874
Distal Deletion 12Q
High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Annular pancreas, Pi... ORPHA:96149
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Pancytopenia, Cryptorch... OMIM:227646
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Lateral ventricle dilatation, Failure to thrive... OMIM:231670
1Q44 Microdeletion Syndrome
Ventriculomegaly, Optic disc hypoplasia, Intestinal malrotation, Hydrocephalus, Abnormal cardiac ... ORPHA:238769
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Aqueductal stenosis, Anal atresia, Hydrocephalus OMIM:276950
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Macular hypoplasia, Colpocephaly, Atrial... OMIM:615219
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... ORPHA:1908
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Abnormal heart morphology, Cryptorchidism, Camp... OMIM:247200
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Macroglossia, Optic atrophy, Hydrocephalus ORPHA:1914
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se... OMIM:270400
Rhombencephalosynapsis
Ventriculomegaly, Abnormality of the uterus, Aganglionic megacolon, Tracheoesophageal fistula, Es... ORPHA:59315
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus ORPHA:275543
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Absent gallbladder, Hepatic cysts, Hydrocephalus, Abno... OMIM:612284
Hurler Syndrome
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto... ORPHA:93473
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Dandy-Walker malform... OMIM:147800
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Ventriculomegaly, Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Cryp... OMIM:616975
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal fistula, Esoph... OMIM:619227
Houge-Janssens Syndrome 1
Ventriculomegaly, Congenital muscular torticollis, Hydrocephalus, Facial hypotonia, Pyloric stenosis OMIM:616355
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Coccidioidomycosis
Increased CSF protein concentration, Granuloma, Abnormality of the male genitalia, Hypoglycorrhac... ORPHA:228123
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes... OMIM:615237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Ventriculomegaly, Occipital encephalocele, Retinal dysplasia, Decreased testi... OMIM:615287
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Ana... OMIM:612582
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Hydrocephalus, Atrial septal defect, Holoprosencephaly ORPHA:93274
Focal Dermal Hypoplasia
Gastroesophageal reflux, Chorioretinal coloboma, Camptodactyly of finger, Acute hepatic failure, ... ORPHA:2092
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Hypocalcemia, Cryptorc... OMIM:618183
Radial Aplasia, X-Linked
Hydrocephalus, Anal atresia, Penile hypospadias OMIM:312190
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, A... OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Ventriculomegaly, Congenital ... OMIM:613150
Mucopolysaccharidosis Type 3