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 skin morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Fbxl3em1(IMPC)Ccpcz HOM Early adult 4.84×10-05
hydrocephaly 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 8.88×10-06
abnormal spleen morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal duodenum morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased liver weight Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.02×10-05
abnormal skeletal muscle morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged testis Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased erythrocyte cell number Fbxl3Gt(CB0226)Wtsi HOM   Early adult 4.76×10-05
decreased spleen weight Fbxl3em1(IMPC)Ccpcz HOM   Early adult 3.01×10-06
increased circulating alkaline phosphatase level Fbxl3em1(IMPC)Ccpcz HOM Early adult 7.48×10-05
abnormal brain morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating chloride level Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.77×10-05
increased lean body mass Fbxl3Gt(CB0226)Wtsi HOM Early adult 4.98×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Hind Leg and Hip

30 Images

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 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
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Go... ORPHA:231720
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Malabsorption, Hypoproteinemia, Increased proport... ORPHA:398063
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Cleft palate, Pulmonary l... OMIM:235255
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... OMIM:267700
Omenn Syndrome
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t... OMIM:603554
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary lym... ORPHA:1655
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia OMIM:221400
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly, Macroorchidism OMIM:300886
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Anal atresia, Malabsorptio... ORPHA:2315
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elev... OMIM:615895
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:603553
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Malabsorption, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Increased stool ... ORPHA:90362
Trypsinogen Deficiency
Anal atresia, Failure to thrive, Hypoproteinemia OMIM:614044
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gest... ORPHA:26793
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... ORPHA:2494
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Congenital Disorder Of Glycosylation, Type Ij
Flexion contracture, Hypoproteinemia, Elevated hepatic transaminase, Cryptorchidism, Jaundice OMIM:608093
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphopenia, Hypoproteinemia ORPHA:1116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Intestinal obstruction, Thr... OMIM:226300
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Pancreatitis, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Holoprosencephaly OMIM:300706
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Megalencephaly
Atrial septal defect, Macroorchidism, Truncal obesity, Long penis ORPHA:2477
1Q21.1 Microduplication Syndrome
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Hypospadias, Tetralogy of Fallot, Arth... ORPHA:250994
Nephrotic Syndrome, Type 1
Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Small for gestational age, Pyloric sten... OMIM:256300
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Hydrocephalus, Jaundice OMIM:129850
Intellectual Developmental Disorder, X-Linked 2
High palate, Macroorchidism OMIM:300428
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Dengue Fever
Hepatomegaly, Hypoproteinemia, Leukopenia, Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:99828
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Trapezius muscle aplasia, Hydrocephalus OMIM:600257
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis, Hypoproteinemia OMIM:137280
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anem... ORPHA:100025
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Ethanolaminosis
Cardiomegaly OMIM:227150
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conc... OMIM:613154
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity, Macroorchidism OMIM:300238
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Flexion contracture, Small for gestational age, Bifid u... OMIM:616222
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, Protruding tongue... ORPHA:324410
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... OMIM:235200
Lujan-Fryns Syndrome
High palate, Camptodactyly of finger, Atrial septal defect, Macroorchidism ORPHA:776
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly... OMIM:269920
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ventriculomegaly, A... ORPHA:858
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Fragile X Syndrome
Mitral valve prolapse, Gastroesophageal reflux, Macroorchidism ORPHA:908
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Xp22.13P22.2 Duplication Syndrome
High palate, Congenital diaphragmatic hernia, Truncal obesity, Polycystic ovaries, Macroorchidism ORPHA:284180
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal musc... OMIM:618654
Polyembryoma
Elevated alpha-fetoprotein, Macroorchidism, Isosexual precocious puberty, Abnormality of the peri... ORPHA:180229
Pancreatic insufficiency, combined exocrine
Anal atresia, Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, E... OMIM:617713
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibr... OMIM:212140
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Flexion contracture, Wrist flexion contracture, Male hypogonadism, Obesity, Facial h... OMIM:300055
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Partington Syndrome
Macroorchidism ORPHA:94083
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Clark-Baraitser syndrome
Obesity, Exaggerated median tongue furrow, Macroorchidism OMIM:300602
Mccune-Albright Syndrome
Hypophosphatemia, Pancreatitis, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Pr... ORPHA:562
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Biliary atresia, Intestina... OMIM:615710
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... ORPHA:86816
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
47,Xyy Syndrome
Hydrocephalus, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, In... ORPHA:8
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Atkin-Flaitz Syndrome
Obesity, Exaggerated median tongue furrow, Macroorchidism OMIM:300431
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Meningioma
Enlarged pituitary gland, Decreased serum testosterone concentration, Reduced circulating prolact... ORPHA:2495
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroglossia, Abnormal circulatin... ORPHA:90674
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Ven... OMIM:610333
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Intestinal atresia, ... OMIM:243150
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... ORPHA:2929
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia i... ORPHA:90790
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Epilepsy, Pyridoxine-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ... OMIM:615863
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... OMIM:600649
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Hepatomegaly, Flexion contracture OMIM:300884
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... OMIM:201475
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Hypogonadotropic hypogonadi... ORPHA:398079
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Hepatomegaly, Hypoplasia of penis, Cleft palat... ORPHA:3376
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Narcolepsy 3
Narcolepsy OMIM:609039
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... ORPHA:95427
Functioning Gonadotropic Adenoma
Hydrocephalus, Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased respon... ORPHA:91348
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... OMIM:619313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:615287
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Decreased liver function, Hepatomegaly, Cryptorchidism, Cholestasis, Camptodac... OMIM:608104
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadia... OMIM:601346
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorr... OMIM:607765
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Hydrocephalus, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, El... OMIM:614576
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, H... OMIM:618841
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... OMIM:619608
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Failure to thrive, Hypospadias, Bilateral cleft lip and palate, Mitral valve prolaps... OMIM:618874
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Griscelli Syndrome
Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... ORPHA:381
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Aromatase Deficiency
Hyperlipidemia, Ambiguous genitalia, female, Eunuchoid habitus, Hypergonadotropic hypogonadism, M... ORPHA:91
Mirage Syndrome
Hydrocephalus, Decreased body weight, Lymphopenia, Gastroesophageal reflux, Cryptorchidism, Hyper... OMIM:617053
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Villous atrophy, Hepati... OMIM:602579
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Cryptorchidism, Frontal encephalocele ORPHA:261102
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Meckel diverticulum OMIM:300864
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Gonadal dysgenesis, male, Congenital diaphragm... ORPHA:2075
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... OMIM:601847
Mucocutaneous Ulceration, Chronic
Ileitis, Vaginal mucosal ulceration OMIM:618287
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Failure to thrive ... OMIM:619064
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:255120
Narcolepsy 7
Narcolepsy OMIM:614250
Non-Functioning Pituitary Adenoma
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... ORPHA:91349
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Type II diabetes mellitus, Small pituitary gland, Absence of pubertal develop... ORPHA:398069
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate, Hypergonadotropic hypogonadism, Mitral valve prolapse, Azoosp... ORPHA:2183
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Micropenis, Aplasia/Hypoplasia of the abdominal wall musculature, Te... ORPHA:1926
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... OMIM:615550
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... OMIM:214950
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fi... OMIM:300514
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Atrial septal defect, Flexion contracture, Ventricular septal defect, Macroorchidism OMIM:309520
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive cardiomyopathy, Left vent... ORPHA:85451
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirub... OMIM:211600
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Increased CSF lactate, Protein-losing enteropathy, Increased CSF alanine concent... OMIM:619063
Alg6-Cdg
Failure to thrive, Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropa... ORPHA:79320
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of ... OMIM:175700
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Fried Syndrome
High palate, Hydrocephalus, Skeletal muscle atrophy ORPHA:85335
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hepatic fibrosis, Protein-losing enter... ORPHA:79319
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat... ORPHA:79302
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine ki... OMIM:613153
B4Galt1-Cdg
Hydrocephalus, Hepatomegaly, Splenomegaly, Small for gestational age, Elevated circulating creati... ORPHA:79332
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Coach Syndrome 2
Hydrocephalus, Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating c... OMIM:619111
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Abno... ORPHA:400
Gracile Bone Dysplasia
Failure to thrive, Hydrocephalus, Hypocalcemia, Micropenis, Hypoplastic spleen, Ankyloglossia, As... OMIM:602361
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Weight loss, Funct... ORPHA:29073
Dextrocardia
Hydrocephalus, Intestinal malrotation, Abnormality of the spleen, Situs inversus totalis, Dextroc... ORPHA:1666
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus OMIM:617244
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Anemia, Ventricular septal defect, Abnormal tricuspid valve... ORPHA:3405
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Ectopic anus, Anal atresia, Duodenal atresia, Ga... ORPHA:2059
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Duodenal atresia, Polysplenia, Ventriculom... OMIM:617784
Trisomy 20P
Ectopic anus, Hypospadias, Camptodactyly of finger, Cryptorchidism, Spina bifida, Macroorchidism ORPHA:261318
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Protein-losing... OMIM:618440
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Holoprosencephaly 5
High palate, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilob... OMIM:609637
Congenital Contractural Arachnodactyly
High palate, Slender build, Duodenal atresia, Flexion contracture, Intestinal malrotation, Trache... ORPHA:115
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Ventricular septal defec... OMIM:615630
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Aortic valve st... OMIM:220210
Danon Disease
Myocardial fibrosis, Myocardial necrosis, EMG: myopathic abnormalities, Elevated circulating crea... OMIM:300257
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, ... ORPHA:272
Eosinophilic Gastroenteritis
Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, ... ORPHA:2070
Mental Retardation, Buenos Aires Type
High palate, Failure to thrive, Hydrocephalus, Atrial septal defect, Intrahepatic biliary atresia... OMIM:249630
Narcolepsy 1
Narcolepsy OMIM:161400
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity ORPHA:141333
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight, Long penis ORPHA:1672
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphologi... ORPHA:1834
Alg1-Cdg
Decreased liver function, Abnormality of the gastrointestinal tract, Protein-losing enteropathy, ... ORPHA:79327
Osteootohepatoenteric Syndrome
Failure to thrive, Hydrocephalus, Hypokalemia, Microvesicular hepatic steatosis, Ileoileal intuss... OMIM:619377
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Anterior hypopituitarism, Microglossia, Occipital enceph... OMIM:241800
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... ORPHA:1335
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... ORPHA:370959
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia, Pericarditis ORPHA:163596
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibr... OMIM:607361
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... ORPHA:52901
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology ORPHA:2185
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Increased CSF lactate, Hyperammonemia, Ventriculomegaly, Hyperalaninemia... OMIM:619051
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Hydrocephalus, Decreased body weight, Atrial septa... OMIM:614886
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Meningocele, Duodena... ORPHA:1759
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... ORPHA:90041
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypospadias, Ventricular septal defect, Pyloric stenosis, Ventriculomegaly, Crypto... OMIM:218350
Neonatal Lupus Erythematosus
Hydrocephalus, Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolyt... ORPHA:398124
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Macroorchidism ORPHA:85327
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... OMIM:608836
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Hydrocephalus, Anal atresia, Atrial septal defect... ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Muscular dystrophy OMIM:614830
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Limb hypertonia, Hyperalaninemia, Perimembranous ventricular septal defect, Card... OMIM:619170
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Skeletal muscle atrop... OMIM:256550
Myopathy, Centronuclear, X-Linked
High palate, Hydrocephalus, Cryptorchidism, Flexion contracture, Diaphragmatic eventration, Pylor... OMIM:310400
Whipple Disease
Hydrocephalus, Malabsorption, Hepatomegaly, Splenomegaly, Anemia, Cachexia, Mediastinal lymphaden... ORPHA:3452
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Ovarian cyst, Increased circulatin... ORPHA:1359
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Left ve... ORPHA:57777
Temple Syndrome
Hydrocephalus, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... ORPHA:254516
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Splenomegaly, Increased circulatin... OMIM:232300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, Hi... ORPHA:228308
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Failure to thrive, Precocious puberty in females, Ambiguous genitalia, ... ORPHA:90794
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Extramedu... ORPHA:79303
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:613090
Central Precocious Puberty
Hydrocephalus, Premature thelarche, Isosexual precocious puberty, Increased body weight, Increase... ORPHA:759
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Abnormal circulating polysaccharide concen... ORPHA:103910
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Hand muscle weakness, Flexion contracture, Quadriceps muscle weakness, Foot dorsif... ORPHA:99947
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Pettigrew Syndrome
Hydrocephalus, Flexion contracture, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Ventriculomegaly, Microglossia, Cardiomegaly, Pericardial cons... OMIM:253250
Mend Syndrome
High palate, Hydrocephalus, Aortic valve stenosis, Cryptorchidism, Dandy-Walker malformation OMIM:300960
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic hepatitis, Elevated circu... OMIM:614921
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Fryns Syndrome
Cleft palate, Ventricular septal defect, Large for gestational age, Shawl scrotum, Polysplenia, A... OMIM:229850
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hydrocephalus, Hypocalcemia, Hepatomegaly, Splenomegaly, Facial palsy, Facial ... OMIM:259700
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Cardiomyopathy, Familial Hypertrophic 27
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Endocardial fibroelastosis... OMIM:618052
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration, Meningocele... ORPHA:588
Lowry-Maclean Syndrome
Hydrocephalus, High, narrow palate, Cleft palate, Abnormality of the abdominal organs, Atrioventr... ORPHA:2409
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Ventricular septal defect,... ORPHA:96170
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Isolated Biliary Atresia
Failure to thrive, Decreased liver function, Hepatomegaly, Periportal fibrosis, Severe failure to... ORPHA:30391
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis... OMIM:614602
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Intestinal malro... ORPHA:244
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, He... ORPHA:157
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Mening... OMIM:611134
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Tracheoesophageal fistula, Hypospadias, Ve... ORPHA:77298
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Refsum Disease, Classic
Limb muscle weakness, Elevated levels of phytanic acid, Increased CSF protein, Cardiomyopathy, Ca... OMIM:266500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Fanconi Anemia, Complementation Group F
Failure to thrive, Duodenal atresia, Atrial septal defect, Cryptorchidism, Decreased response to ... OMIM:603467
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus, Cryptorchidism, Hypogonadism OMIM:601794
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma ORPHA:615
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Microform Holoprosencephaly
Duodenal atresia, Hypoplasia of penis, Cleft palate, Holoprosencephaly, EMG: myopathic abnormalit... ORPHA:280200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Leukemia, Ventriculomegaly OMIM:602501
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy, Cryptorchidism ORPHA:2701
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:602522
Alobar Holoprosencephaly
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Panhy... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Panhy... ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Panhy... ORPHA:93924
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:83473
Semilobar Holoprosencephaly
Abnormality of the endocrine system, Decreased response to growth hormone stimulation test, Panhy... ORPHA:220386
Walker-Warburg Syndrome
Hydrocephalus, Hypoplasia of penis, Cleft palate, Muscular dystrophy, Bifid uvula, Abnormal circu... ORPHA:899
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, EMG: myopathic abnormalities, Acanthocytosis, Elevated hepatic tr... ORPHA:71
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615181
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ... OMIM:601678
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Hypogonadotropic hypogonadism, Dec... OMIM:308750
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Hydrocephalus, Cryptorchidism, Ventriculomegaly OMIM:618577
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... OMIM:618886
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Trisomy 1Q
Anal atresia, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Camptodactyly of fing... ORPHA:261344
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Hydrocephalus, Neutropenia, Lower limb hype... ORPHA:2169
Kleeblattschaedel
Hydrocephalus OMIM:148800
Stromme Syndrome
Hydrocephalus, Duodenal atresia, Cleft palate, Intestinal malrotation, Accessory spleen, Jejunal ... OMIM:243605
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Hydrocephalus, Cleft palate, Bifid uvula, Ventricular septal defect, Protrudin... OMIM:612938
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, Atrial septal defect, High, narrow pa... ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:601005
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated s... OMIM:601186
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hydrocephalus, Hepatomegaly, Splenomegaly, Mitral va... OMIM:231005
Pearson Syndrome
Exocrine pancreatic insufficiency, Increased CSF lactate, Hepatomegaly, Steatorrhea, Hepatic fail... ORPHA:699
H Syndrome
Histiocytosis, Hydrocephalus, Malabsorption, Micropenis, Hepatosplenomegaly, Enlarged kidney, Cam... ORPHA:168569
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia, Malabsorption, Cachexia, Xerostomia, Hematochezia, Glo... OMIM:175500
Feingold Syndrome
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia ORPHA:1305
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Abetalipoproteinemia
Hepatomegaly, Steatorrhea, Fat malabsorption, Reticulocytosis, Cardiomegaly, Abnormal circulating... ORPHA:14
Hypoplasminogenemia
Hydrocephalus, Duodenal ulcer, Cervicitis, Abnormal fallopian tube morphology, Decreased level of... ORPHA:722
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... OMIM:602782
Plasminogen Deficiency, Type I
Hydrocephalus, Duodenal ulcer, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker mal... OMIM:217090
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Micropenis, Hypospadias, Obesity, Cryptorchidism ORPHA:171839
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Elevated circulating... ORPHA:308552
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly ORPHA:945
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Atrial septal defect, Cleft palate, Holoprosencephaly, Stomach cancer, Muscular... ORPHA:1052
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Disorder Of Bile Acid Synthesis
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... ORPHA:79168
49,Xxxyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Eunuchoid habitus, Micropenis, Ambig... ORPHA:261534
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Dysphagia, Meckel diverticulum ORPHA:163961
Bresek Syndrome
Hydrocephalus, Cleft palate, Decreased testicular size, Cryptorchidism, Aganglionic megacolon ORPHA:85284
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Cryptorchidism, Bicornuate ... OMIM:264480
Serkal Syndrome
Sex reversal, Congenital diaphragmatic hernia, Pulmonic stenosis, Abnormal penis morphology, Malr... ORPHA:139466
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... ORPHA:89938
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Elevated c... ORPHA:913
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Mo... ORPHA:2847
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Flexion contracture, Holoprosencephaly,... OMIM:253800
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Failure to thrive, Hydrocephalus, Cirrhosis, Leukopenia, Tet... ORPHA:974
Intellectual Developmental Disorder, Autosomal Dominant 53
Duodenal atresia, Micropenis, Intestinal malrotation, Ventricular septal defect, Cryptorchidism, ... OMIM:617798
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micr... OMIM:618278
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Atrial septal defect, Joint contracture of the hand, Thyroid lymphangiectasia, Ple... OMIM:235510
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypospadias, Anal stenosis, Cryptorchidism, Abnormal heart morphology OMIM:601499
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Fle... ORPHA:801
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Flexion contracture, Micropenis, Hypospadias, Small for gestational age, Ventricula... OMIM:616897
Fg Syndrome Type 1
High palate, Anal atresia, Hydrocephalus, Malrotation of colon, Atrial septal defect, Gastroesoph... ORPHA:93932
Achondroplasia
Hydrocephalus OMIM:100800
Meckel Syndrome
Hydrocephalus, Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Cryptorchidism, ... ORPHA:564
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Leukocytosis, Left ventricular hypertro... ORPHA:90065
Pierson Syndrome
Skeletal muscle atrophy, Hypoproteinemia OMIM:609049
Leptospirosis
Hepatomegaly, Hyperproteinemia, Thrombocytopenia, Rhabdomyolysis, Hepatitis, Elevated serum trans... ORPHA:509
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Hsd10 Disease, Infantile Type
Increased CSF lactate, Hyperammonemia, Gastrointestinal dysmotility, Dysphagia, Hypertrophic card... ORPHA:391428
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Vent... OMIM:222470
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Hydrocephalus, Tracheoesophageal fistula, Spina bifida occulta, Ap... ORPHA:2437
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Hydrocephalus, Chordee, Atrial septal defect, Congenital diaphragmatic hernia, Clef... OMIM:309801
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia, Hydrocephalus OMIM:312190
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia, female, External genital ... OMIM:249000
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extram... OMIM:259720
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Hepatomegaly, Macroglossia, Splenomegaly, Flexion contracture, Hepatosplenomegaly,... OMIM:309900
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the p... ORPHA:2470
Nephronophthisis 18
Portal fibrosis, Hydrocephalus, Cholestasis OMIM:615862
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Protein-losing enteropathy, Hyp... OMIM:618183
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Syndromic Diarrhea
Bicuspid aortic valve, Colitis, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly,... ORPHA:84064
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Abnormal heart morphology OMIM:276950
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hydrocephalus, Hypocalcemia, Facial palsy, Anemia ORPHA:53
Attrv30M Amyloidosis
Weight loss, Cardiomyopathy, Cardiomegaly ORPHA:85447
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Hypercholanemia, Familial 1
Failure to thrive, Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Meckel Syndrome, Type 6
Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Ab... OMIM:612284
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculomega... OMIM:609757
Aspartylglucosaminuria
Malabsorption, Hepatomegaly, Macroglossia, Splenomegaly, Macroorchidism ORPHA:93
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Duodenal atresia, Aortic valve stenosis, Hypoplastic left heart, ... ORPHA:2308
Desmosterolosis
Failure to thrive, Hydrocephalus, Ambiguous genitalia, female, Joint contracture of the hand, Cle... OMIM:602398
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Flexion contracture, Ventricular septal defect, Dandy-Walker malform... OMIM:147800
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... ORPHA:92050
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, My... OMIM:115197
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Hydrocephalus, Atrial septal defect, Flexion contracture, Abnormal... ORPHA:314588
Feingold Syndrome 1
Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pol... OMIM:164280
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hydrocephalus, Hypoplasia of the ovary, Leukocytosis, Flexion contracture, Int... OMIM:619321
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Trisomy 17P
High palate, Hydrocephalus, Aortic valve stenosis, Hypoplastic left heart, Cleft palate, Macroglo... ORPHA:261290
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ... OMIM:241200
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Aganglionic megacolon OMIM:304100
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption, Hypolipidemia OMIM:614338
Hec Syndrome
Vaginal hydrocele, Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis ORPHA:2119
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Duodenal atresia, Flexion contracture of finger, Gastroesophageal reflux, Aort... ORPHA:464311
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hepatomegaly, Cleft palate, Atrioventricul... OMIM:619573
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Failure to thrive, Precocious puberty, Gastroesophageal reflux, High, narrow palate, Cleft palate... OMIM:619950
Krabbe Disease
Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein OMIM:245200
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Abnormality of the diaphragm, Spina bifida occulta OMIM:183802
Distal Monosomy 12Q
Annular pancreas, Duodenal atresia, Congenital hypertrophy of left ventricle, Pituitary adenoma, ... ORPHA:96149
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Crohn's disease, Colitis, Elevated circulating C-reactive ... OMIM:619381
Gaucher Disease, Perinatal Lethal
Decreased body weight, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Ventricul... OMIM:608013
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Duodenal atresia, Atrial septal defect, Double inlet left ventricl... OMIM:270100
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Duodenal atresia, Failure to thrive, Aortic valve stenosis, Gastroes... ORPHA:464306
Chromosome 17P13.1 Deletion Syndrome
High palate, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture OMIM:613776
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Splenomegaly, Cachexia, Neoplasm of the thymus, Myofibrillar myop... ORPHA:744
L1 Syndrome
Skeletal muscle atrophy, Hydrocephalus, Aganglionic megacolon, Aqueductal stenosis ORPHA:275543
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
Fanconi Anemia
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Absent testis, Cleft palate, Trac... ORPHA:84
Nasu-Hakola Disease
Hydrocephalus, Functional abnormality of the gastrointestinal tract, Acute leukemia, Ventriculome... ORPHA:2770
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Lethal Congenital Contracture Syndrome 10
High palate, Torticollis, Narrow palate, Hypoplasia of the thymus, Ventricular septal defect, Ove... OMIM:617022
Congenital Short Bowel Syndrome
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis,... OMIM:615237
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Duodenal atresia, Joint contracture of the hand, Cleft palate, Camptodactyly, ... OMIM:247200
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Pyloric stenosis, Ventriculomegaly, Congenital muscular torticollis, Facial hypotonia OMIM:616355
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Extra-axial cerebrospinal fluid accumulation, Ventriculom... OMIM:618798
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Ventricular sep... ORPHA:1908
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Desmosterolosis
Failure to thrive, Hydrocephalus, Anomalous pulmonary venous return, Cleft palate, Splenomegaly, ... ORPHA:35107
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate OMIM:614120
Mogs-Cdg
High palate, Hydrocele testis, Atrial septal defect, Hepatomegaly, External genital hypoplasia, L... ORPHA:79330
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Gastroesophageal reflux, Intestinal atresia, ... ORPHA:2162
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Muscular ventricular septal defect, Tracheoesophageal fistula, Spina bifida occ... OMIM:619227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft palate, Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Eleva... OMIM:613150
Endocrine-Cerebroosteodysplasia
Sex reversal, Hydrocephalus, Cleft palate, Holoprosencephaly, Micropenis, Hypospadias, Enlarged k... OMIM:612651
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Hydrocephalus, Labial hypoplasia, Atrial septal defect, Flex... OMIM:147791
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Ventriculomegaly, Encephalocele ORPHA:93274
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Elevated circulating creatine kinase concentration, Flexion contracture, Muscular ... OMIM:615249
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Hepatomegaly, Cleft palate, Ventricular septal defect, Pyloric stenosis, Ambiguous... OMIM:270400
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... ORPHA:731
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytop... OMIM:304790
Hydrolethalus
Hydrocephalus, Cleft palate, Anencephaly, Arrhinencephaly, Bifid uvula, Abnormal fallopian tube m... ORPHA:2189
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Alkuraya-Kucinskas Syndrome
High palate, Hydrocephalus, Micropenis, Camptodactyly, Ventriculomegaly, Arthrogryposis multiplex... OMIM:617822
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Congenital diaphragmatic hernia,... ORPHA:63259
Cog8-Cdg
Failure to thrive, Elevated hepatic transaminase, Protein-losing enteropathy, Ventriculomegaly, S... ORPHA:95428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Hydrocephalus, Atrial septal defect, Macroglossia, Flexion contracture... ORPHA:505248
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Fucosidosis
Failure to thrive, Hepatomegaly, Abnormality of the gallbladder, Decreased muscle mass, Cardiomegaly ORPHA:349
Hydrocephalus With Associated Malformations
Intestinal malrotation, Hydrocephalus OMIM:236640
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hydrocephalus, Neutropenia, Cryptorchidism, Micropenis, Hypergonadotropic hypog... OMIM:227646
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Fle... ORPHA:90291
Proteus-Like Syndrome
Hydrocephalus, Splenomegaly, Abnormality of the parathyroid gland, Communicating hydrocephalus, T... ORPHA:2969
Charge Syndrome
Labial hypoplasia, External genital hypoplasia, Cleft palate, Tracheoesophageal fistula, Ventricu... OMIM:214800
Mucopolysaccharidosis Type 1
Hydrocephalus, Malabsorption, Splenomegaly, Abnormal tendon morphology, Abnormal aortic valve mor... ORPHA:579
16P13.2 Microdeletion Syndrome
Failure to thrive, Hydrocephalus, Gastroesophageal reflux, Flexion contracture, Micropenis, Dilat... ORPHA:500055
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Decreased serum thromboxane B2, Abnormal circulating eico... OMIM:618372
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Hypocalcemia, Atrial septal defect, Hyperbilirubinemia, Cleft palate, Micropenis, ... ORPHA:163979
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Small for gestational age OMIM:613217
Cat Eye Syndrome
Tricuspid atresia, Anal atresia, Atrial septal defect, Hypoplastic left heart, Cleft palate, Rect... OMIM:115470
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Ventricular septal defect, Knee flexion contracture, Skeleta... OMIM:603387
Congenital Sialidosis Type 2
Hydrocephalus, Hepatomegaly, Hepatosplenomegaly, Protruding tongue, Abnormal heart morphology ORPHA:93400
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Large for gestational age, Peric... OMIM:239850
Rhombencephalosynapsis
Anal atresia, Hydrocephalus, Tracheoesophageal fistula, Abnormality of the uterus, Ventriculomega... ORPHA:59315
Pontocerebellar Hypoplasia, Type 7
High palate, Hydrocephalus, Micropenis, Ambiguous genitalia, Ventriculomegaly, Cryptorchidism, Sk... OMIM:614969
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Duodenal atresia, Alobar holoprosencephaly, Hypoplastic left heart... OMIM:301043
Opitz-Kaveggia Syndrome
Anal atresia, Hydrocephalus, Narrow palate, Multiple joint contractures, Joint contracture of the... OMIM:305450
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Anal atresia, Hypoplasia of penis, Cleft palat... ORPHA:2166
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Periportal fibrosis, Holoprosencephaly, Splenomegaly, Intestinal mal... OMIM:269860
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Secundum atrial septal defect, Supernumerary nipple, Micropenis, Camptodactyly of ... OMIM:619951
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Gastroesophageal reflux, Macr... ORPHA:363705
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, High palate, Duodenal atresia, Gastroesophageal reflux, Hypospadias, Ventricula... OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Anal atresia, Hydrocephalus, Cleft palate, Elevated circulating creatine kinase concentration, Co... OMIM:236670
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Hydrocephalus, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve... OMIM:612863
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Hepatomegaly, Macroglossia, Splenomegaly, Flexion contracture, Abnormal heart valv... OMIM:253220
Immunodeficiency 31C
Autoimmune hemolytic anemia, Villous atrophy, Lymphopenia, Abnormal intestine morphology OMIM:614162
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,... ORPHA:811
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome