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Gene: Fbxw18 MGI:3505704

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Gene Summary

Name:
F-box and WD-40 domain protein 18
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
preweaning lethality, complete penetrance Fbxw18em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged thymus Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal tooth morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
small testis Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating sodium level Fbxw18em1(IMPC)Ccpcz HET Early adult 4.63×10-05
abnormal tooth morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
hydrocephaly Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal brain morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
small spleen Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal testis morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal seminal vesicle morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
decreased lung elastance Fbxw18em1(IMPC)Ccpcz HET   Early adult 9.73×10-05
increased prepulse inhibition Fbxw18em1(IMPC)Ccpcz HET   Early adult 4.91×10-05
small seminal vesicle Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating chloride level Fbxw18em1(IMPC)Ccpcz HET Early adult 1.72×10-05
small testis Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
enlarged spleen Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00

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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 Hind Leg and Hip

56 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

56 Images

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X-ray

XRay Images Forepaw

28 Images

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X-ray

XRay Images Skull Lateral Orientation

28 Images

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Human diseases caused by Fbxw18 mutations

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

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

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

The table below shows human diseases predicted to be associated to Fbxw18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate ORPHA:1074
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pyruvate Carboxylase Deficiency
Tachypnea, Subependymal cysts, Increased CSF glutamate concentration, Decreased CSF glutamine con... ORPHA:3008
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Hartsfield Syndrome
Median cleft lip, Hypospadias, Alobar holoprosencephaly, Cleft upper lip, Cryptorchidism, Gonadot... OMIM:615465
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Abnormal cerebrospinal fluid... ORPHA:91354
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Mirage Syndrome
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia, ... OMIM:617053
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... OMIM:235200
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... ORPHA:529799
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... ORPHA:529808
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypospadias ORPHA:250994
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyperammonemia, Hyperprolinemia, H... OMIM:615751
Ethanolaminosis
Cardiomegaly OMIM:227150
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosi... ORPHA:94093
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Vacuolate... OMIM:269920
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Respiratory insufficie... OMIM:610333
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... OMIM:619313
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased CSF protein concentrati... OMIM:603553
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Edinburgh Malformation Syndrome
U-Shaped upper lip vermilion, Hydrocephalus, Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... OMIM:619381
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... OMIM:614736
Whipple Disease
Hyponatremia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Myocarditis,... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Splenomegaly, Cardiomyopathy, Thin vermilion border, Hypogonadism OMIM:608540
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Immunodeficiency 104
Hepatomegaly, Pneumonia, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia OMIM:608971
Congenital Toxoplasmosis
Hepatomegaly, Ventriculomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Hydrocephalus, Lymphade... ORPHA:858
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... OMIM:201810
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Micrognathia ORPHA:1538
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Hypernatremia, ... OMIM:615508
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde... OMIM:266100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Recurrent tonsilli... ORPHA:171876
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Macroorchidism, Malar flattening, Ename... ORPHA:139474
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... ORPHA:1930
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Micrognathia, Splenomegaly, Respiratory insufficiency, Thin ver... ORPHA:1046
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P... ORPHA:90790
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition ORPHA:1008
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Mala... OMIM:620157
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Micropenis, Hypocalcemia, Hypoplastic spleen, Ascites, Ankyloglossia OMIM:602361
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditi... ORPHA:83601
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Micrognathia, Abnormality of the pancreas, Crypto... ORPHA:3376
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Respiratory insufficiency ORPHA:139406
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Diabetes insipidus OMIM:304800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Cryptorchidism, Hydrocephalus, Deep philtrum, Thick lower lip vermilion, Thin verm... ORPHA:2701
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Hyperglycorrhachia, CSF lymphocytic pleiocytosis, Increased CSF protein concentrati... ORPHA:163921
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Snakebite Envenomation
Hyponatremia, Epistaxis, Respiratory failure, Respiratory paralysis, Gingival bleeding, Hypopitui... ORPHA:449285
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hepatomegaly, Hydrocephalus OMIM:300884
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Respiratory insu... OMIM:613845
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Thin upper lip vermilion, Fused labia minora, Secundum atrial septal defect, Wide m... OMIM:608688
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi... OMIM:613490
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Hyperammonemi... ORPHA:1667
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Pericardial effusion, Cryptorchidism, Elevated ... OMIM:618183
Acrofacial Dysostosis, Catania Type
Carious teeth, Cryptorchidism, Hypospadias OMIM:101805
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Azoosp... ORPHA:2183
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... OMIM:253250
Holoprosencephaly
Hypoplasia of penis, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, Holoprosenceph... ORPHA:2162
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Abnormal sperm motility, Male infertility, Neonatal respiratory... ORPHA:244
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... ORPHA:649929
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... OMIM:620010
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Cry... OMIM:616222
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation OMIM:607091
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gall... ORPHA:2075
Proteus-Like Syndrome
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, ... ORPHA:2969
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ... ORPHA:95512
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Cryptorchidism, Hydrocephalus, Broad philtrum, Long philtrum, Hypoplastic female ex... OMIM:618577
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased CSF lactate, Hypoglycorrhachia, Reduce... OMIM:612126
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... ORPHA:556037
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, High palate, Retrognathia... OMIM:615637
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Abnormality of the pancreas, Cryptorchidism, Hydrocephal... ORPHA:1926
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Atrial septal defect, Hypoplastic spleen, Patent foramen... ORPHA:89844
Alg12-Cdg
Hyponatremia, Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Ventriculom... ORPHA:79324
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus, Bifid uvula, Cleft palate OMIM:258320
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Necrotizing Enterocolitis
Hyponatremia, Apnea, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Ascites, ... ORPHA:391673
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp... OMIM:612526
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve... ORPHA:556030
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... OMIM:603552
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, Th... OMIM:615010
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Ventricul... OMIM:220210
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis, Dyspnea ORPHA:75563
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Deep philtrum, Orofacial cleft, Lobar h... OMIM:609637
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Alg8-Cdg
Hyponatremia, Ventriculomegaly, Anemia, Macroglossia, Ascites, Thrombocytopenia ORPHA:79325
B4Galt1-Cdg
Hepatomegaly, Thin upper lip vermilion, Elevated circulating creatine kinase concentration, Splen... ORPHA:79332
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Abn... OMIM:601499
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... ORPHA:100924
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... OMIM:618652
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Cryptorchidism, Hyperkalemia, Anemia ORPHA:97362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Thyroid lymph... OMIM:235255
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Respiratory insufficiency, Hepatocell... ORPHA:79273
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Hypoadrenocorticism, Familial
Hyponatremia, Apnea, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Deep philtrum, Respiratory insufficien... ORPHA:1237
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab... OMIM:620282
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... ORPHA:534
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypoparathyroidism, Decreased circulating cor... ORPHA:199299
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Micrognathia,... ORPHA:1655
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Colchicine Poisoning
Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Abnormal blood ion concentration, ... ORPHA:31824
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Griscelli Syndrome
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, H... ORPHA:381
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia OMIM:619302
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, Hypoplasia of t... ORPHA:3145
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevate... OMIM:619991
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia ORPHA:163596
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... ORPHA:731
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:417
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Anemia ORPHA:1802
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Rabin-Pappas Syndrome
Hyponatremia, Mandibular prognathia, Hypoventilation, Micrognathia, Hydrocephalus, Tracheomalacia... OMIM:620155
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal defect, Elevated circulating cre... OMIM:614576
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Malar flattening, Ventricu... OMIM:218350
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Abnormal pericardium morphology, Ventricular sept... ORPHA:1335
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Cholestasis, Orofacial clef... OMIM:615630
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... ORPHA:254516
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Hydrocephalus, Long penis, Everted lower lip verm... ORPHA:1672
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty ORPHA:141333
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overg... OMIM:612938
Lowry-Maclean Syndrome
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Abnormali... ORPHA:2409
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Thin vermilion border, Long philtrum, M... ORPHA:171839
Congenital Myopathy 8
Reduced vital capacity, High palate, Respiratory insufficiency, Cardiomegaly OMIM:618654
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atr... OMIM:601186
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology, Ventriculomegaly OMIM:175700
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Diastema, Cryptorchidism, Hy... OMIM:609757
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Emanuel Syndrome
Broad jaw, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Dental crowding, Micr... OMIM:609029
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem... OMIM:300280
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... ORPHA:324410
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Leukemia, Smooth philtrum OMIM:602501
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration ORPHA:77260
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplen... OMIM:209950
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Abnormality of the dentition, Carious teeth, Mandibular osteomyeli... ORPHA:53
Emanuel Syndrome
Dental crowding, Micrognathia, High palate, Cough, Atrial septal defect, Micropenis, Bifid uvula,... ORPHA:96170
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Hydrocephalus, Anemia, Hypocalcemia, Cal... OMIM:259700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Micrognathia, Splenomegaly, Hypokalemia, High palate, Hypocalcemia OMIM:617913
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi... OMIM:606003
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia, Ven... OMIM:620210
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... OMIM:610600
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Increased CSF lactate, Pulmonary arterial ... OMIM:619051
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... OMIM:613011
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Microcytic anemia, Cleft upper lip, Hydrocephalus, Ameno... ORPHA:168569
Shigellosis
Hyponatremia, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal blood ion concentration... ORPHA:810
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di... ORPHA:398124
Fried Syndrome
Hydrocephalus, High palate, Short philtrum ORPHA:85335
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Cheilitis, Hyp... ORPHA:247353
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... ORPHA:231226
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism... OMIM:310400
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dyspnea, Dilated ... OMIM:610505
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Respiratory insuf... ORPHA:682
Mogs-Cdg
Respiratory distress, Hepatomegaly, Atrial septal defect, Hypoventilation, Apnea, External genita... ORPHA:79330
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins... ORPHA:293978
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thro... ORPHA:507
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... ORPHA:59303
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, C... OMIM:607361
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Prominence of the premaxilla, Hydrocephalus, Hyperbilirubinemia, Abnormalit... OMIM:614886
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Narrow mouth ORPHA:83473
Alpha-Mannosidosis
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m... ORPHA:61
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Micrognathia, Hydrocephalus, Microglossia, Cleft palat... OMIM:241800
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Increased CSF lactate... OMIM:619046
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenocorticotropic hormone excess, Lympha... OMIM:609981
Pseudo-Torch Syndrome 3
Apnea, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, R... OMIM:618886
Hydrolethalus
Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival c... ORPHA:2189
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... OMIM:300635
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopath... ORPHA:79312
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia OMIM:619064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, F... ORPHA:42
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Hyp... OMIM:601005
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endoca... ORPHA:2119
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... OMIM:212140
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydroceph... OMIM:309900
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Chylopericardium... ORPHA:2414
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Supernumerary nipple, Micrognathia, Secundum atrial septal defect, C... OMIM:619951
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... ORPHA:275761
Gómez-López-Hernández Syndrome
Hydrocephalus, Thin vermilion border ORPHA:1532
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... ORPHA:231214
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath... OMIM:611762
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm... OMIM:613987
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Gorlin Syndrome
Mandibular prognathia, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Hydrocephalus ORPHA:377
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Abnormality of the liver, Respiratory... ORPHA:79473
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... OMIM:611134
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Asplenia, Thr... OMIM:185070
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defect, Adrenal hypoplasia... ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Respiratory ... OMIM:613153
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amen... ORPHA:2348
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Dextrocardia
Dextrocardia, Abnormal reproductive system morphology, Abnormality of the spleen, Situs inversus ... ORPHA:1666
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer... OMIM:620306
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... OMIM:602450
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi... ORPHA:3473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Cardiomyopathy, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:613155
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Micrognathia, Hydrocephalus, Short philtrum, Abnormal oral cavity morphology, Open mouth ORPHA:1516
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Ventriculomegaly, Everted upper lip vermilion, Apnea, Cardiom... OMIM:608013
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Sit... OMIM:244400
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restri... ORPHA:99931
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... OMIM:601678
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Micrognathia, Thrombo... OMIM:259720
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Ja... OMIM:612714
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Macroglossia, Oligodontia, Hypocalcemi... OMIM:618440
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Coach Syndrome 2
Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating creatinine concentration, Portal... OMIM:619111
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Micrognathia, Cleft palate, Micropenis, Ple... OMIM:616897
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogeusia, Decreased serum zinc, Hypogonadism, Decreased serum testo... OMIM:201100
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology... ORPHA:1133
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, ... ORPHA:1555
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Hyperalaninemia, Hypertroph... OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... ORPHA:397596
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Fg Syndrome Type 1
Hypospadias, Dental crowding, Micrognathia, Cryptorchidism, Hydrocephalus, Mitral valve prolapse,... ORPHA:93932
Trisomy 17P
Hypoplasia of penis, Micrognathia, Hydrocephalus, Orofacial cleft, Cleft palate, Wide mouth, Macr... ORPHA:261290
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg... ORPHA:79083
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... OMIM:300539
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Abnormal oral cavity morphology, Lymphadenopathy ORPHA:42642
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Hyd... ORPHA:1812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden... OMIM:150550
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Japanese Encephalitis
Hyponatremia, Respiratory distress, Neutrophilia, CSF pleocytosis, CSF lymphocytic pleiocytosis, ... ORPHA:79139
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Apnea, Splenomegaly, Hydr... ORPHA:579
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Oral ulcer, Lymph... OMIM:615122
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow palate, Macroglos... OMIM:617022
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Meckel Syndrome
Accessory spleen, Encephalocele, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of... ORPHA:564
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... ORPHA:829
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... OMIM:305400
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, H... ORPHA:95409
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia... ORPHA:2166
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Atrial septal defect, Ventriculomegaly, Hypospadias, Micrognathia, Cryptorchidism,... OMIM:257300
Trisomy 1Q
Microretrognathia, Small scrotum, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Cleft... ORPHA:261344
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Cryp... OMIM:264480
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotranspo... OMIM:306955
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Male infertility, Diabetes mellitus, Splenomegaly, Reduced blood urea... OMIM:219800
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Pontocerebellar Hypoplasia, Type 7
Apnea, Micrognathia, Cryptorchidism, Hydrocephalus, Deep philtrum, High palate, Tongue fasciculat... OMIM:614969
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Oral leukoplakia, ... OMIM:618165
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly,... ORPHA:251066
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Decreased... OMIM:616034
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Decreased testicular size, Cleft palate ORPHA:85284
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,... OMIM:249000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes in in... ORPHA:163961
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... OMIM:618892
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus tot... ORPHA:1908
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Hydr... OMIM:101800
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Tachypnea, Hypera... OMIM:201475
Desmosterolosis
Micrognathia, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmonary venou... ORPHA:35107
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... OMIM:278000
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Natal tooth, Median cleft lip, Ventricular septal defect, Hamartoma of tongue, Sple... OMIM:269860
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro... ORPHA:90065
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the ... ORPHA:363444
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Diastema, Cryptorchidism, Supernumerary tooth, Agenes... OMIM:619718
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, High palate, Macrovesicu... OMIM:608836
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Ventriculomegaly ORPHA:324416
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormality of the spleen, Hydrocephalus, Gingival overgrowth, Abnormality of the l... ORPHA:1834
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... OMIM:619824
Endocrine-Cerebroosteodysplasia
Natal tooth, Ventriculomegaly, Small scrotum, Hypospadias, Bilateral cleft lip, Adrenal hypoplasi... OMIM:612651
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress OMIM:160900
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morpholo... ORPHA:1865
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Thrombocyto... ORPHA:163979
Cholera
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... ORPHA:173
Kleeblattschaedel
Hydrocephalus OMIM:148800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holop... ORPHA:77298
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... OMIM:614921
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... ORPHA:96191
Optic Pathway Glioma
Precocious puberty, Hydrocephalus, Fatigable weakness ORPHA:2086
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... ORPHA:85451
Distal Triplication 15Q
Abnormal external genitalia, Micrognathia, Hydrocephalus, Abnormal heart morphology, Hydrocele te... ORPHA:314588
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Microretrognathia, Hydrocephalus, Aortic valve stenosis, Dandy-Walker m... OMIM:220220
Acalvaria
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Orofaciodigital Syndrome I
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Hamartoma of tongue, Cleft up... OMIM:311200
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Monosomy 18Q
Mandibular prognathia, Absence of the pulmonary valve, Bilateral cryptorchidism, Secundum atrial ... ORPHA:1600
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Long philtrum, Lymph... OMIM:605309
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Premature lo... ORPHA:667
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach... OMIM:239200
Pseudo-Torch Syndrome 1
Increased CSF protein concentration, Hepatomegaly, Ventriculomegaly, Microretrognathia, Splenomeg... OMIM:251290
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Congenital Sialidosis Type 2
Hepatomegaly, Protruding tongue, Hydrocephalus, Gingival overgrowth, Abnormal heart morphology, H... ORPHA:93400
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... OMIM:618495
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a... ORPHA:57777
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology, Cleft palate, Cleft upper lip ORPHA:398189
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Ventricular septal defect, Hyd... OMIM:300514
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Lateral Meningocele Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dental crowding, Micrognathia, Cryptorchidism, ... OMIM:130720
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, High palat... OMIM:618798
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... OMIM:610829
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotr... ORPHA:2306
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Pneumonia, Myocarditis, Leukocytosis, Dyspnea,... ORPHA:544482
Edinburgh Malformation Syndrome
Micrognathia, Hydrocephalus, Respiratory insufficiency, Downturned corners of mouth, Thin vermili... ORPHA:1895
22Q11.2 Deletion Syndrome
Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Short philtrum, ... ORPHA:567
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bronchiectasis, H... OMIM:612387
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Micrognathia OMIM:619036
Intellectual Developmental Disorder, X-Linked 30
Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion OMIM:300558
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... ORPHA:89938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Infant Botulism
Hyponatremia, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:178478
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Abnormality of ... ORPHA:228123
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Atrial septal defect,... ORPHA:93274
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Meckel Syndrome, Type 6
Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Cleft upper lip, Hydroc... OMIM:612284
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... OMIM:194380
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Gingival ov... OMIM:239850
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, High palate, Hypoplast... ORPHA:2437
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Dysplastic tr... OMIM:612863
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate... ORPHA:899
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Occipital encephalocele, Apnea, Portal hypertension, Congenital hepatic fibrosis, S... ORPHA:1454
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr... ORPHA:264580
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Hurler Syndrome
Hepatomegaly, Splenomegaly, Hydrocephalus, Enlarged tonsils, Gingival overgrowth, Hepatosplenomeg... OMIM:607014
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... OMIM:601847
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Pulmonary arterial hypertension, Hepatosplenomegaly, Anemia,... ORPHA:505248
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Kaposiform Lymphangiomatosis
Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the... ORPHA:464329
Desmosterolosis
Ventriculomegaly, Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Alveolar ridge overgr... OMIM:602398
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Malar flattening, Abnormal p... ORPHA:93262
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Micrognathia, Pericardial effusion, Hydrocephalus, Pleural effus... OMIM:617822
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism... ORPHA:96097
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Orofacial cleft, Wide mouth, Dandy-Walker malformation, Ventriculo... ORPHA:1647
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hydrocephalus, Hyperhomocystinemia, Abnormali... ORPHA:2169
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... OMIM:115197
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Fused labia majora, Bifid scrotum, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ... ORPHA:308552
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Ventriculomegaly OMIM:614120
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea, Increased total bilirubin ORPHA:90037
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Adrenal insufficiency, Decreased c... ORPHA:427
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... OMIM:208540
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Thick vermilion border, Cardiomegaly ORPHA:3137
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Hydrocep... ORPHA:93473
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence OMIM:268800
Refsum Disease, Classic
Increased CSF protein concentration, Cardiomyopathy, Elevated circulating phytanic acid concentra... OMIM:266500
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Hydrocep... OMIM:612582
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Hydrocephalus, Smooth philtrum ORPHA:585
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... ORPHA:169090
Multiple Sulfatase Deficiency
Hepatomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Dextrocardia, Micrognathia, Co... OMIM:620305
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Elevated circulating creatine kinase concentra... ORPHA:370959
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... OMIM:276950
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
1Q44 Microdeletion Syndrome
Smooth philtrum, Exaggerated cupid's bow, Micrognathia, Hydrocephalus, Abnormal cardiac septum mo... ORPHA:238769
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Decreased response to growth hormone stimulation test, Central dia... ORPHA:293987
Jacobsen Syndrome
U-Shaped upper lip vermilion, Hypospadias, Ventricular septal defect, Micrognathia, Cryptorchidis... OMIM:147791
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Recurre... OMIM:618935
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Felty Syndrome
Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Lymph... ORPHA:47612
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Smooth philtrum, Micrognathia, High, narrow palate, Hydrocephalus, Colpocephaly, High palate, Sho... OMIM:620156
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Hyp... OMIM:612301
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, High palate, Malar flatt... ORPHA:2180
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Increased CSF lactate, Hyperammonemia, Cardiomegaly ORPHA:391428
6P22 Microdeletion Syndrome
Hydrocephalus, Abnormal palate morphology ORPHA:251046
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Micrognathia, Hypoalbuminemia, Holoprosencephaly, ... OMIM:270400
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Gingival overgrowth, ... OMIM:253220
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventriculomegaly, Hypertriglyceridemia, Ventricular septal defect... OMIM:619418
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus OMIM:616589
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperactive renin... OMIM:241200
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, High palate, Ventriculomegaly OMIM:304100
Mend Syndrome
Micrognathia, Asymmetry of the mouth, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9... ORPHA:401973
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Pericardi... ORPHA:2136
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Pulmonary ar... OMIM:230800
Lymphangioleiomyomatosis
Dyspnea, Hydrocephalus, Abnormality of the lymphatic system, Pneumothorax, Abnormal morphology of... ORPHA:538
Thanatophoric Dysplasia
Atrial septal defect, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:2655
Acute Intermittent Porphyria
Hyponatremia, Respiratory insufficiency, Respiratory paralysis, Hepatocellular carcinoma, Weaknes... ORPHA:79276
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Abnormality of the dentiti... ORPHA:955
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Cardiomyopathy, Cough ORPHA:3386
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... OMIM:300967
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibro... ORPHA:974
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... OMIM:607765
Dubowitz Syndrome
Hypoparathyroidism, Delayed eruption of teeth, Hypospadias, Abnormality of neutrophils, Micrognat... ORPHA:235
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Natal tooth, Respiratory distress, Hypospadias, Hydrocephalus, Gingival overgrowth... OMIM:123790
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short lingual frenulum, Microgn... ORPHA:96121
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia, ... OMIM:618426
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Ogden Syndrome
Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Mic... OMIM:300855
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Splenomegaly, Hydrocephalus, Submucous cleft hard palate... OMIM:115150
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hydrocephalus, Asthma, Cholestasis, Hypokalemia, Portal fibrosi... OMIM:619377
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati... OMIM:613179
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macroglossia, Wid... OMIM:618143
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Long philtrum, Hepatomegaly, Hypospadias, Increas... OMIM:222470
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia OMIM:235555
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Chops Syndrome
Ventricular septal defect, Splenomegaly, Cryptorchidism, High, narrow palate, Anomalous pulmonary... OMIM:616368
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Perio... ORPHA:722
Fanconi Anemia
Micrognathia, Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atria... ORPHA:84
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Pseudoaminopterin Syndrome
Micrognathia, Asplenia, Cryptorchidism, Hydrocephalus, Orofacial cleft, Fatigable weakness, High ... ORPHA:221120
Aase-Smith Syndrome I
Ventricular septal defect, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation OMIM:147800
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Cryptorchidism, Hydrocephalus, Orofacial cleft, Narrow mouth, Vaginal atresia ORPHA:3301
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Hypospadias, Micrognathia, Myelomeningocele, Hydr... ORPHA:90652
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Upper airway obstruction, Hypoplastic labia majora, Long philtrum, Atrial septal d... OMIM:207410
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Adenoiditis, Splenomegaly, Hydrocephalus, ... ORPHA:581
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus OMIM:616521
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D... ORPHA:280365
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... OMIM:300842
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Abnormal dental morphology, Lip pit, Abnormality of the dentiti... ORPHA:2322
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Hepatomegaly, Pneumonia, Carious teeth, Splenomegaly, Hydrocephalus, C... OMIM:253200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Hydrocephalus, Hydrocele testis, Short philtrum, Hypopl... OMIM:613603
Vitamin K Antagonist Embryofetopathy
Macroglossia, Myelomeningocele, Hydrocephalus, Respiratory insufficiency ORPHA:1914
Tetrasomy 9P
Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palate, Short p... ORPHA:3310
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,... OMIM:614424
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr... ORPHA:79240
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Narrow palate ORPHA:207
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Hydrocephalus, Deep philtrum, ... OMIM:619833
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Hyd... OMIM:239300
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Narro... ORPHA:87
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Reticulocytopenia, M... OMIM:227646
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Fanconi Anemia, Complementation Group R
Hydrocephalus, Bone marrow hypocellularity, Anemia, Agenesis of permanent teeth OMIM:617244
Marshall-Smith Syndrome
Irregular dentition, Apnea, Bilateral cryptorchidism, Glossoptosis, Short philtrum, High palate, ... OMIM:602535
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Cr... OMIM:101200
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, Dy... OMIM:123500
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Asthma, Hypogonadism, Micropenis, Dilated third ventricle, Ventric... ORPHA:500055
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:157
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Hydrocele testis, Pleural effusion, Chylothorax, Atrial septal defect... OMIM:616843
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Opitz-Kaveggia Syndrome
Hypospadias, Dental crowding, Micrognathia, Cleft upper lip, Cryptorchidism, Hydrocephalus, Thick... OMIM:305450
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Ventriculomegaly, Abn... ORPHA:2072
Trisomy 8P
Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, Abnormal left ventricle morp... ORPHA:264450
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Noncommunicating hydrocephalus, Bronchiectasis, ... OMIM:618699
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Splenomegaly, Micrognathia ORPHA:3035
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Widely spaced teeth, Atrial septal defect, Aortic valv... ORPHA:459061
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... OMIM:130650
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele, Elevated circulating creatine kinase concentration ORPHA:588
Cockayne Syndrome A
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... OMIM:216400
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Hydrocephalus, Asthma, High pala... OMIM:618162
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Micrognathia, Epispadias, Abnormal fallopian tube morphology, Abnormal peni... ORPHA:2556
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Familial Dysautonomia
Hyponatremia, Abnormal peritoneum morphology ORPHA:1764
Scheie Syndrome
Hepatomegaly, Splenomegaly, Wide mouth, Rhinitis, Thick vermilion border, Everted lower lip vermi... ORPHA:93474
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Abnormalit... ORPHA:1775
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobi... OMIM:269700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Pneu... OMIM:614700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Increased circulating thyroglobulin le... OMIM:610199
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Micrognathia, Hydrocephalu... OMIM:273395
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Leukocytosis, Hydrocephalus, Downturned corners of mouth, Hypoplasia of the ov... OMIM:619321
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Abnormal circulating follicle-stimulating hormone co... ORPHA:93325
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Hyperparathyroidism, Ventriculomegaly, Ovarian... OMIM:618188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Dilated cardiom... OMIM:253800
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Respiratory distress, Megaloblastic a... ORPHA:79282
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... OMIM:618641
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Deep philtrum, Tachypnea, Cardiomegaly OMIM:613320
Tetrasomy 15Q26
Microretrognathia, Hydrocephalus, High palate, Atrial septal defect, Dandy-Walker malformation OMIM:614846
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Hyd... ORPHA:1546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Dental malocclusion, Narr... OMIM:182212
Bohring-Opitz Syndrome
Ventriculomegaly, Apnea, Cardiomegaly, Micrognathia, Cleft lip, Cleft palate, Abnormal cardiac se... ORPHA:97297
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Mi... OMIM:236670
Nephronophthisis 18
Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid... ORPHA:567983
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High... ORPHA:2462
Raine Syndrome
Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Narrow mouth, Hydrocephalus,... OMIM:259775
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Orofacial cleft,... ORPHA:475
Pelvis-Shoulder Dysplasia
Hydranencephaly, Spina bifida, Micrognathia, Hydrocephalus, Cleft palate, Thick anterior alveolar... ORPHA:2839
Metatropic Dysplasia
Hydrocephalus, Cleft palate ORPHA:2635
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Long philtrum, An... ORPHA:250989
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Mandibular prognathia, Hypospadias, External genital hypoplasia, Abnor... ORPHA:2658
Hogue-Janssen Syndrome 2
Open mouth, Hydrocephalus, Tented upper lip vermilion, Ventriculomegaly OMIM:616362
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, High... ORPHA:1340
Tenorio Syndrome
Mandibular prognathia, Apnea, Hydrocephalus, Recurrent pneumonia, Wide mouth, Macroglossia, Recur... OMIM:616260
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,... ORPHA:2736
Intellectual Developmental Disorder, Autosomal Dominant 65
Tented upper lip vermilion, Micrognathia, Noncommunicating hydrocephalus, Downturned corners of m... OMIM:619320
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, O... OMIM:612289
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Hajdu-Cheney Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Hyd... OMIM:102500
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Dextrocardia, Hydrocephalus, Orofacial cleft, Cleft palate, Abnormality of ... ORPHA:220493
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Hydrocephalus, Ventriculomegaly OMIM:109120
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Narrow palate, Cleft palate, Downturned corners of mouth, Broad phi... OMIM:605627
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hydrocephalus, Cleft palate,... OMIM:309801
Fucosidosis
Hepatomegaly, Abnormality of the dentition, Cardiomegaly, Abnormality of the gallbladder, Hypothy... ORPHA:349
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus,... OMIM:608594
Enamel-Renal Syndrome
Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ... ORPHA:1031
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Respiratory insufficiency OMIM:618042
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Carious ... OMIM:608233
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Micrognathia OMIM:614219
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus, Conotruncal defect, Micrognathia OMIM:243440
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Per... ORPHA:781
Rhombencephalosynapsis
Microretrognathia, Hydrocephalus, Abnormality of the uterus, Narrow mouth, Ventriculomegaly ORPHA:59315
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Splenomegaly, Myel... OMIM:252500
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Hydrocephalus, Lateral ventricle dilatation, He... OMIM:231670
Icf Syndrome
Communicating hydrocephalus, Abnormality of neutrophils, Micrognathia, Protruding tongue, Macrogl... ORPHA:2268
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocard... OMIM:261740
Vacterl With Hydrocephalus
Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Abnormal fallopia... ORPHA:3412
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Long penis, Gingiva... OMIM:135500
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus... OMIM:252100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Narro... OMIM:245600
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Splenomegaly, Cryptorchidism, Deep philt... OMIM:613563
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... ORPHA:379
Fraser Syndrome 1
Encephalocele, Hypospadias, Dental crowding, Cleft upper lip, Cryptorchidism, Myelomeningocele, H... OMIM:219000
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Cardiomegaly, Hepatoblastoma, Hypothyroidism, Polycythemia, Hepatomegaly, ... ORPHA:116
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Narrow mouth, Hyd... ORPHA:77301
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
High, narrow palate, Hydrocephalus ORPHA:2181
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Decreased serum insu... ORPHA:77293
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cleft palate, Po... ORPHA:137675
Aymé-Gripp Syndrome
Thin upper lip vermilion, Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Clef... ORPHA:1272
Fucosidosis
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Vacuolated lympho... OMIM:230000
Thoracoabdominal Syndrome
Hypospadias, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the grea... OMIM:313850
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip... OMIM:603457
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto... ORPHA:14
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate, Short philtrum, ... OMIM:613776
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Delaye... OMIM:232220
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, L... OMIM:617591
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Dental crowding, Apnea, Micro... OMIM:300373
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Yunis-Varon Syndrome
Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... ORPHA:3472
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concent... OMIM:612852
Plasminogen Deficiency, Type I
Hydrocephalus, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Periodontitis, Da... OMIM:217090
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Holoprosencephaly 14
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueduct... OMIM:619895
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Exaggerated cupid's bow, Micrognathia, Aqueductal stenosis, Cryptorchidism... OMIM:619512
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... OMIM:615688
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:603387
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Hypospadias, Dental crowding, Cryptorchidism, Thick lower lip vermilion, C... ORPHA:3063
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Hydrocephalus, Craniofacial osteosclerosis, Hypocalcemia, Dandy-Walke... OMIM:618476
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia OMIM:139090
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Micrognathia, Si... ORPHA:2461
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Micrognathia, Hydrocephalus, Microdontia, Dentinogenesis imperfecta OMIM:112240
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, ... ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk... ORPHA:32960
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Respiratory failure, Increased CSF lactate OMIM:618252
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... OMIM:153670
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced for... OMIM:613686
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Smooth philtrum, Dental crowding, Micrognathia, High, n... ORPHA:314585
Pettigrew Syndrome
Mandibular prognathia, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick vermilion border, Da... OMIM:304340
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia, Megaloblastic anemia OMIM:300322
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Increased CSF protein concentration, Cardiomegaly OMIM:105210
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Ventricular septal defect, Micrognathia, Cryptorchidism, Hydrocephalus, Ma... ORPHA:261337
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Malar flattening, Broad phil... ORPHA:2463
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Ventricular septal defect, Cleft upper lip, Precocious puberty, Cr... OMIM:194190
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundic... ORPHA:168577
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... ORPHA:365
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Aque... OMIM:619534
Houge-Janssens Syndrome 1
Open mouth, Hydrocephalus, Ventriculomegaly OMIM:616355
Cranioectodermal Dysplasia 2
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, M... OMIM:613610
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation, Ventriculo... OMIM:225790
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Exaggerated median ton... OMIM:312870
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Central apnea, Episodic tachypnea, Hydrocephalus... OMIM:608091
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Non-medullary ... ORPHA:273
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Parotitis, Elevated ... OMIM:256040
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Atrial se... OMIM:616546
Laurin-Sandrow Syndrome
Downturned corners of mouth, Cryptorchidism, Hydrocephalus ORPHA:2378
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Pneumonia, Elevated circulating C-reactive protein con... ORPHA:1304
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Downturned corners of mouth, Hypoplasia of the thymu... OMIM:264090
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect, ... OMIM:314390
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Spina bifida, Cleft u... OMIM:109400
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, Cleft palate, Cardiomyopathy, Respiratory failure ORPHA:158687
Cockayne Syndrome B
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega... OMIM:133540
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple, High palate, Mitral valve prolapse OMIM:104350
Stromme Syndrome
Accessory spleen, Micrognathia, Hydrocephalus, Cleft palate, Wide mouth OMIM:243605
Congenital Myopathy 22A, Classic
Dental crowding, Micrognathia, Respiratory insufficiency, Normal pressure hydrocephalus, High pal... OMIM:620351
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Tetralogy of... ORPHA:3384
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... ORPHA:363958
Mend Syndrome
Microretrognathia, Smooth philtrum, Micrognathia, Cryptorchidism, Hydrocephalus, High palate, Aor... OMIM:300960
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Inspiratory stridor OMIM:207950
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Thanatophoric Dysplasia Type 1
Atrial septal defect, Hydrocephalus, Respiratory insufficiency, Ventriculomegaly ORPHA:1860
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic CSF lymphocytosis,... ORPHA:51
Joubert Syndrome With Renal Defect
Encephalocele, Apnea, Hydrocephalus, Cleft palate, Orofacial cleft, Abnormality of the hypothalam... ORPHA:220497
Fanconi Anemia, Complementation Group L
Micrognathia, Hydrocephalus, Cleft palate, Bone marrow hypocellularity, Aplasia of the uterus, Mi... OMIM:614083
Polycythemia Vera
Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom... ORPHA:729
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Cole-Carpenter Syndrome 2
Microretrognathia, Hydrocephalus, High palate, Dentinogenesis imperfecta OMIM:616294
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... OMIM:300972
Peho Syndrome
Ventriculomegaly, Hydrocephalus, Gingival overgrowth, Abnormal upper lip morphology, Malar flatte... ORPHA:2836
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Hydro... OMIM:616007
Familial Aortic Dissection
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly ORPHA:229
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Hypoplasia of the premaxil... OMIM:610828
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Hydrocephalus, Short philtrum, Micrognathia ORPHA:163966
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Micrognathia, Aqueductal stenosis, Cleft upper lip, Hydrocephalus, Vel... OMIM:154400
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Hydrocephalus, ... OMIM:277400
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Hypospadias, Ventricular septal defect, Bifid uterus, Microgn... OMIM:236680
Familial Tumoral Calcinosis
Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,... ORPHA:53715
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Elevated circulating creatine ki... OMIM:615249
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supe... OMIM:617088
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Hydrocephalus, Irregular menstruation, Uterine leiomyoma, Re... OMIM:616482
Developmental And Epileptic Encephalopathy 49
Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip vermilion, Open mout... OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea... OMIM:615287
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Pulmonary embolism, N... ORPHA:744
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Hypospadias, Apnea, Spi... OMIM:114290
Muenke Syndrome
High, narrow palate, Hydrocephalus, Malar flattening ORPHA:53271
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, High palate, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Wide mouth, Thick vermilion border, Long philtrum,... ORPHA:1517
Tetrasomy 5P
Respiratory distress, Micrognathia, Hydrocephalus, High palate, Long philtrum, Pulmonary arterial... ORPHA:3309
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate OMIM:101600
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Downturned corners of mouth, Rectovaginal... ORPHA:1780
Lhermitte-Duclos Disease
Macroglossia, Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Mitral valve prolapse, High pa... OMIM:616914
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia ... OMIM:261540
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Pfeiffer Syndrome Type 2
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Tracheomalac... ORPHA:93259
Kabuki Syndrome 1
Hemolytic anemia, Ventricular septal defect, Premature thelarche, Autoimmune thrombocytopenia, Mi... OMIM:147920
Cousin Syndrome
Micrognathia, Hydrocephalus, Ambiguous genitalia, female, Alveolar ridge overgrowth, Cleft palate... OMIM:260660
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Micrognathia, Carious teeth, Hydro... ORPHA:536467
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Elevated circulating uropo... OMIM:263700
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Alobar Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:220386
Microphthalmia With Limb Anomalies
Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... ORPHA:1106
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Wide mouth, High palate, Ma... OMIM:618590
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu... OMIM:276700
Cutis Laxa, Autosomal Recessive, Type Iib
Malar flattening, Hydrocephalus, High palate, Long philtrum OMIM:612940
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Downturned corners of mouth, Hepatic fibrosis, Hypocalcemia, Atria... OMIM:243800
Familial Mediterranean Fever
Pericarditis, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Oral leukoplakia, Ascites, Pa... ORPHA:342
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Hydrocephalus, Abnormality of the lymphatic system, Abnormal heart morphology, Chyloth... ORPHA:137667
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H... ORPHA:171
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Ascites OMIM:617667
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Wide mouth, Hydrocephalus, Ventriculomegaly ORPHA:60040
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Tropical Endomyocardial Fibrosis
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement,... ORPHA:75565
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Micrognathia, Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Peters Plus Syndrome
Micrognathia, Bicuspid pulmonary valve, Clitoral hypoplasia, Widely spaced teeth, Spina bifida oc... ORPHA:709
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Malar flattening OMIM:224400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Respiratory failure, Elevated circulating creatine kinase concentration, Ventricul... OMIM:616538
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Elevated circulating creatine kinase concentration, Cleft upper lip, Hydrocephalus... OMIM:613150
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut... ORPHA:99827
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodontia OMIM:612132
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Dyspnea, Increased mean corpuscular hemogl... ORPHA:90041
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Apnea, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Ventriculomegaly ORPHA:395
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Lateral vent... OMIM:613154
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Micrognathia, Hydrocephalus, Thick lower lip vermilion... OMIM:218040
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Joubert Syndrome With Oculorenal Defect
Encephalocele, Apnea, Hydrocephalus, Tachypnea, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Anteri... OMIM:619841
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Hydr... OMIM:210710
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu... OMIM:614643
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Absence Of The Pulmonary Artery
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... ORPHA:980
Alexander Disease
Diabetes mellitus, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Respiratory insufficie... ORPHA:58
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Ventricular septal defect, Micrognathia, Cl... OMIM:268300
Osteogenesis Imperfecta
Abnormal endocardium morphology, Delayed eruption of teeth, Ventriculomegaly, Abnormality of dent... ORPHA:666
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalu... ORPHA:2369
Cole-Carpenter Syndrome
Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Microg... ORPHA:2050
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Short philtrum, High palate, Micropeni... OMIM:619475
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia OMIM:180920
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, G... ORPHA:93
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus OMIM:187600
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233710
Hemangioblastoma
Hydrocephalus ORPHA:252054
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Non... ORPHA:805
Knobloch Syndrome
Lymphangioma, Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:219730
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lip telangiecta... OMIM:613471
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Patent foramen ovale, ... OMIM:607872
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Anemia, Hypogonadism, Abnormal palate morphology ORPHA:3042
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Micrognathia, Hydrocephalus, Abnormal heart morphology, Mit... ORPHA:363700
Achondroplasia
Hypoxemia, Restrictive ventilatory defect, Hydrocephalus ORPHA:15
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mandibular prognathia, Pancytopenia, Pneumonia, Hepatosplenomegaly, ... ORPHA:309282
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Hydrocephalus, Orofacial cleft, Tracheomalacia ORPHA:268249
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Pneumothorax, Paroxysmal dyspnea, Retro... ORPHA:91387
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Abnormality of the hepatic vascula... ORPHA:1677
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, High, narrow palate, Hydrocephalus, Lateral ventricle dilatation, Shor... OMIM:619575
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial cleft, Spina... ORPHA:63259
Fetal Akinesia Deformation Sequence 1
Micrognathia, Cryptorchidism, Hydrocephalus, High, narrow palate, Cleft palate, High palate, Narr... OMIM:208150
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Focal Dermal Hypoplasia
Delayed eruption of teeth, Supernumerary nipple, Cleft upper lip, Cryptorchidism, Hydrocephalus, ... OMIM:305600
Achondroplasia
Respiratory distress, Malar flattening, Hydrocephalus, Upper airway obstruction OMIM:100800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Downturned corners of mouth, Micrognathia ORPHA:1064
Arachnoiditis
Hydrocephalus ORPHA:137817
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, High palate, Micrognathia ORPHA:300570
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Baller-Gerold Syndrome
Anomalous splenoportal venous system, Micrognathia, Hydrocephalus, Cleft palate, Abnormal heart m... OMIM:218600
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormality of the endocrine system, Hydrocephal... ORPHA:2356
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Open mouth, Ventriculomegaly ORPHA:457284
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Hydrocephalus, Bicuspid pulmonary valve, Cleft palate, Mitra... OMIM:609192
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Hydrocephalus, Chronic m... ORPHA:636
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate, Respiratory... OMIM:304120
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... OMIM:182250
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt... OMIM:107480
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid adenoma OMIM:162200
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Alström Syndrome
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... ORPHA:64
Coffin-Siris Syndrome 12
Hypospadias, Micrognathia, Cryptorchidism, Hypothyroidism, Velopharyngeal insufficiency, Submucou... OMIM:619325
Sturge-Weber Syndrome
Hydrocephalus, Gingival overgrowth, Pulmonary embolism ORPHA:3205
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly ORPHA:79280
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Mandibular prognathia, High palate, Malar flattening, Micropenis, Ve... ORPHA:457359
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Adrenal calcification, Cardiomegaly, Pericardial e... ORPHA:51608
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Spontaneous pneumothorax, Micrognathia, Hydrocephalus, Bicuspid pulmonary ... OMIM:610168
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Mandibular prognathia, High palate, Malar flattening, Ventriculomegaly OMIM:617011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Micrognathia, Hydrocephalus, Everted lower li... OMIM:253280
Medulloblastoma
Hydrocephalus ORPHA:616
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Split Cord Malformation
Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep... ORPHA:573278
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Clef... OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:175780

Histopathology

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

There is no histopathology data for Fbxw18

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fbxw18.

No publications found that use IMPC mice or data for Fbxw18.

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MGI Allele Allele Type Produced
Fbxw18em1(IMPC)Ccpcz Exon Deletion Mice

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