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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
increased circulating chloride level Fbxw18em1(IMPC)Ccpcz HET Early adult 1.87×10-05
preweaning lethality, complete penetrance Fbxw18em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal heart morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal seminal vesicle morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal testis morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
small spleen Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
increased prepulse inhibition Fbxw18em1(IMPC)Ccpcz HET   Early adult 4.91×10-05
small seminal vesicle Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
hydrocephaly Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
enlarged spleen Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
decreased lung elastance Fbxw18em1(IMPC)Ccpcz HET   Early adult 8.64×10-05
abnormal skin morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal brain morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal tooth morphology Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Fbxw18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
small testis Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal tooth morphology Fbxw18em1(IMPC)Ccpcz HET Early adult 0.00
abnormal testis 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 Forepaw

28 Images

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X-ray

XRay Images Skull Lateral 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 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 Hind Leg and Hip

56 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
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Thrombocytopenia OMIM:209970
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus, Hypospadias, Cryptorchidism ORPHA:250994
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating... OMIM:613313
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Infantile Sialic Acid Storage Disease
Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, Vacuolated... OMIM:269920
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Micrognathia, Splenomegaly, Hepatomegaly, Thin vermilion border OMIM:608540
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Congenital Toxoplasmosis
Ventriculomegaly, Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hydroce... ORPHA:858
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Splenomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
Triploidy
Abnormality of the gallbladder, Micrognathia, Narrow mouth, Cryptorchidism, Wide mouth, Ambiguous... ORPHA:3376
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Cryptorchidism, Abnormal p... ORPHA:2701
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, Neonatal hyperbilirubinemia, U-Shaped upper lip vermilion OMIM:129850
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Gingivitis, Abnormality of the dentition, Periodontitis, Hydrocephalus ORPHA:1008
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Immunodeficiency 104
Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Malar flattening, Enamel hypoplasia, Thin vermilion border, Ma... ORPHA:139474
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Microretrognathia, Hydrocephalus OMIM:300884
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Micrognathia, Narrow mouth, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias, Thin... ORPHA:1046
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Gracile Bone Dysplasia
Ascites, Ankyloglossia, Hypocalcemia, Hydrocephalus, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Genitopalatocardiac Syndrome
Downturned corners of mouth, Abnormal mesentery morphology, Abnormality of the gallbladder, Micro... ORPHA:2075
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... OMIM:617053
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Ventriculomegaly, Long philtrum, Micrognathia, Cryptorchid... OMIM:618577
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mulibrey Nanism
Ventriculomegaly, Microglossia, Dental malocclusion, Dental crowding, Ascites, Absent frontal sin... OMIM:253250
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Cardiomyopathy, Increased circulating ferritin concentration, De... ORPHA:465508
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... ORPHA:2969
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Hyperkalemia, Abnormal circulati... ORPHA:90794
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circul... OMIM:266100
Temple Syndrome
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Decreased testicular size,... OMIM:616222
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Bicornuate uterus, Hydrocephalus, Cleft palate OMIM:258320
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Microgn... ORPHA:1926
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Frontal encephalocele ORPHA:261102
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Mitral valve prolapse, Hydrocephalus, Abnormality of the hypoth... ORPHA:2183
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... OMIM:615234
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Situs inversus totalis, Chronic ... OMIM:620642
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal d... OMIM:618652
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Mandibular prognathia, Abnormal heart morphology, Cryptorchidism, Micr... OMIM:601499
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... OMIM:620010
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... ORPHA:848
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone stimulation t... OMIM:220210
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus, Hypospadias ORPHA:141333
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Ascites, De... ORPHA:91348
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased CSF protein concentration, Reduced natural killer cell count, Hemophagocytosis, Increas... ORPHA:158057
Glut1 Deficiency Syndrome 2
Hypoglycorrhachia, Increased CSF lactate, Splenomegaly, Reticulocytosis, Reduced haptoglobin leve... OMIM:612126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Delayed puberty, Nephrogenic diabe... ORPHA:3145
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Intellectual Developmental Disorder, Autosomal Recessive 41
Ventriculomegaly, Retrognathia, Splenomegaly, Hepatomegaly, High palate, Mandibular prognathia OMIM:615637
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Malar flattening, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hyp... OMIM:218350
Aicardi-Goutieres Syndrome 6
Splenomegaly, Increased CSF interferon alpha, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, C... OMIM:615010
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
B4Galt1-Cdg
Long philtrum, Splenomegaly, Elevated circulating creatine kinase concentration, Thin upper lip v... ORPHA:79332
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Diencephalic Syndrome
Hydrocephalus, Long penis, Abnormality of the hypothalamus-pituitary axis, Everted lower lip verm... ORPHA:1672
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Temple Syndrome
Precocious puberty, Bifid uvula, Decreased response to growth hormone stimulation test, Type II d... ORPHA:254516
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ventriculomegaly, Pancreatic lymphangiectasis, Ascites, Micrognathia, Splenomegaly, Cryptorchidis... OMIM:235255
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... ORPHA:1335
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, Anemia, Pericarditis ORPHA:163596
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Enamel hypoplasia, Oral mucosal blisters OMIM:226650
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale ORPHA:89844
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventriculomegaly, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenome... ORPHA:1655
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Protruding tongue, Cryptorchidism, Alveol... OMIM:612938
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Splenomegaly, Gingivitis, Hepatomegaly, Anemia, Premature loss of teeth OMIM:618107
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Galactosemia Iii
Hypergalactosemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Micrognathia, Cryptorchidism, Malar flattening, Hydrocephalus, Micropenis, Hypospa... ORPHA:171839
Alpha-Heavy Chain Disease
Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Beemer-Ertbruggen Syndrome
Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia, Thrombocytopenia, Communicating... ORPHA:1237
Lowry-Maclean Syndrome
High, narrow palate, Hypoplasia of the maxilla, Abnormality of the abdominal organs, Downturned c... ORPHA:2409
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Smooth philtrum, E... ORPHA:324410
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg... OMIM:616828
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... ORPHA:381
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Primary amenorrhea, Hyperchole... OMIM:612526
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Diastema, Decreased response to growth hormone stimulation test, Micrognathia, ... OMIM:609757
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Cholestasis, Splenomegaly, Ventricular septal defect, Orofaci... OMIM:615630
Isolated Anencephaly
Cleft lip, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Retrognathia, Cholestasis, Pancytopenia, Splenomegaly, Elevated circulating cre... OMIM:614576
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt... OMIM:259710
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Emanuel Syndrome
Broad jaw, Aortic valve stenosis, Ventriculomegaly, Dental crowding, Long philtrum, Micrognathia,... OMIM:609029
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Wolman Disease
Adrenal calcification, Hepatomegaly, Splenomegaly OMIM:620151
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Ventricular septal defect, Smooth philtrum, Hydrocephalus, Leukemia OMIM:602501
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventriculomegaly, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly,... OMIM:620210
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Primary Ciliary Dyskinesia
Abnormal sperm motility, Ventriculomegaly, Female infertility, Polysplenia, Atrial situs ambiguou... ORPHA:244
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Ventricular septal defect... ORPHA:96170
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Micrognathia, Cryptorchidism... OMIM:601186
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Retrognathia, Hyperplasia of the maxilla, Cardiomyopathy, Hypertrophic c... OMIM:300280
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Occipital encephalocele, Hydrocephalu... OMIM:607361
Immunodeficiency 114, Folate-Responsive
Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Aphthous ulcer, Lip fis... OMIM:620603
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Cryptorchidism, Su... ORPHA:2189
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Oligodontia, H... ORPHA:59303
Fried Syndrome
Short philtrum, High palate, Hydrocephalus ORPHA:85335
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Everted upper lip vermilion, Leukemia, Supernumerary nipple, Micro... OMIM:619951
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... ORPHA:398124
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Micrognathia, Median cleft upper lip, Hydrocephalus, Micro... OMIM:241800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia ORPHA:721
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... OMIM:616278
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Malar flattening, Micropenis, Increased serum testostero... ORPHA:8
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Cardiomegaly, Enamel hypoplasia OMIM:613576
Alpha-Mannosidosis
Craniofacial hyperostosis, Dental malocclusion, Widely spaced teeth, Open bite, Gingival overgrow... ORPHA:61
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m... OMIM:256550
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the male genitalia, Hyperbilirubinemia, Prominence of the premaxil... OMIM:614886
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Hydrocephalus,... OMIM:175700
Congenital Hydrocephalus
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicu... OMIM:613987
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Dandy-Walker malfo... OMIM:611134
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemo... ORPHA:846
Gómez-López-Hernández Syndrome
Thin vermilion border, Hydrocephalus ORPHA:1532
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal heart morphology, Abnormality of ... ORPHA:1666
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Zimmermann-Laband Syndrome
Bifid uvula, Micrognathia, Anterior open-bite malocclusion, Splenomegaly, Supernumerary tooth, Wi... ORPHA:3473
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hypocalcemia, Abnormal leu... ORPHA:53
3C Syndrome
High, narrow palate, Aortic valve stenosis, Hypoplastic left heart, Ventriculomegaly, Tetralogy o... ORPHA:7
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Hydrocephalus, Thrombocyto... OMIM:259700
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Increased CSF lactate, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperala... OMIM:619046
H Syndrome
Histiocytosis, Cleft upper lip, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic ... ORPHA:168569
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Ventriculomegaly, Hypertrophic cardiomyopathy, Increased CSF lactate, Hy... OMIM:619051
Mogs-Cdg
Retrognathia, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hyp... ORPHA:79330
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Retrognathia, Decreased response to growth hormo... OMIM:602782
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, A... ORPHA:2348
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Hec Syndrome
Endocardial fibroelastosis, Communicating hydrocephalus, Vaginal hydrocele, Cardiomyopathy ORPHA:2119
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Cryptorchidism, Hydrocephalus, High palate, Dandy-Walker malformation OMIM:310400
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Micrognathia, Open mouth, Abnormal oral cavity morphology, Hydrocephalus, Short philtrum ORPHA:1516
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Aredyld Syndrome
Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal dental enamel morphology, Type II d... ORPHA:1133
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,... OMIM:209950
Leishmaniasis
Hypoalbuminemia, Abnormal oral mucosa morphology, Leukopenia, Pancytopenia, Abnormal macrophage m... ORPHA:507
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... OMIM:613490
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Pseudotrisomy 13 Syndrome
Cleft upper lip, Median cleft palate, Cryptorchidism, Complete atrioventricular canal defect, Ven... OMIM:264480
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Elevated circulating ... OMIM:611762
Cardiomyopathy, Familial Hypertrophic, 27
Ventriculomegaly, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic... OMIM:618052
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Lymphadenopathy ORPHA:42642
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abnormal ... ORPHA:1812
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Decre... OMIM:212140
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:613155
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... OMIM:602347
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Micrognathia, Narrow mouth, Malar flattening, Thic... ORPHA:261290
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Cryptorchidism, Encephaloc... ORPHA:2166
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegaly, Hypertriglyceride... ORPHA:79083
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Situs inversus... ORPHA:564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit... OMIM:235700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventriculomegaly, Unilateral cleft lip, Hypertrophic cardiomyopathy, Ascites, Micrognathia, Ventr... OMIM:616897
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Leukemia, Bifid scrotum, Long philtrum, Micrognathia, Cryptorchidism, Malar fla... OMIM:257300
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... ORPHA:699
Trisomy 1Q
Small scrotum, Ventriculomegaly, Microretrognathia, Narrow mouth, Cryptorchidism, Ventricular sep... ORPHA:261344
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Abnormal heart valve m... OMIM:309900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Fatigable weakness, Elevated circulating creatine kinase concentration, Fatigable... ORPHA:42
Lethal Congenital Contracture Syndrome 10
Long philtrum, Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, O... OMIM:617022
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased CSF protein concentration, Hemophagocytosis, Increased circulating fer... OMIM:267700
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypoplasia of the zygomatic bone, Bifid scrotum, Tooth agenesis, Narrow mouth, Cryptorchidism, Pr... ORPHA:1555
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell a... OMIM:618165
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Oculoskeletodental Syndrome
Splenomegaly, Cryptorchidism, Hypocalcemia, Oligodontia, Hypothyroidism, Hepatomegaly, Macrogloss... OMIM:618440
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Micrognathia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Hyp... ORPHA:251066
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Hypogonadotropic hypogonadism, Delayed ... OMIM:619718
Bresek Syndrome
Hydrocephalus, Decreased testicular size, Cryptorchidism, Cleft palate ORPHA:85284
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Hyperammonemia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutr... ORPHA:79312
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Ventriculomegaly, Carious teeth, Dental malocclusion, Velopharyngea... ORPHA:363444
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia OMIM:619064
Endocrine-Cerebroosteodysplasia
Small scrotum, Ventriculomegaly, Natal tooth, Microphallus, Thick upper lip vermilion, Micrognath... OMIM:612651
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Fg Syndrome Type 1
Small pituitary gland, Ventriculomegaly, Dental crowding, Long philtrum, Micrognathia, Open mouth... ORPHA:93932
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hypoplasia of penis, Holoprosencephaly,... ORPHA:77298
Desmosterolosis
Bifid uvula, Ventriculomegaly, Retrognathia, Micrognathia, Narrow mouth, Splenomegaly, Submucous ... ORPHA:35107
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Everted upper lip vermilion, Retrognathia, Ascites, Hepatosplenomegaly, Microgn... OMIM:608013
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Optic Pathway Glioma
Precocious puberty, Hydrocephalus, Fatigable weakness ORPHA:2086
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Micrognathia, Situs inversus totalis, Encephalocele, Vent... ORPHA:1908
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... ORPHA:1811
Timothy Syndrome
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Thin upper li... OMIM:601005
Macrocephaly/Autism Syndrome
Long philtrum, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele ... OMIM:605309
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hypoplasia of the maxilla, Elevated circulating parathyroid hormone level... OMIM:101800
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla, Cleft upper lip, Bilat... OMIM:305400
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Abnormality of the spleen, Abnormality of the l... ORPHA:1834
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Distal Triplication 15Q
Retrognathia, Abnormal heart morphology, Micrognathia, Atrial septal defect, Dandy-Walker malform... ORPHA:314588
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Aq... OMIM:306955
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Elevated circulating 2-trans,4-cis-decadienoylcarnitine ... OMIM:616034
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald... OMIM:601678
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Bile duct proliferation, Malf... OMIM:249000
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Mucopolysaccharidosis Type 1
Thick lower lip vermilion, Widely spaced teeth, Hypertrophic cardiomyopathy, Abnormal heart valve... ORPHA:579
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Abnormality of the ... ORPHA:1414
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Adrenal medullary hypoplasia, Mandibular prognathia, Hydrocephalus OMIM:248000
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Oral ... OMIM:615122
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:613090
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Left ventricular hypertroph... OMIM:613153
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Hypogonadism, Ventricular septal defect, Hydrocephalus, Thromb... OMIM:300514
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Orofacial cleft, Occipital encephalocele, Hydrocephalus ORPHA:324416
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Orofaciodigital Syndrome I
Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Hamartoma of tongue, Abnormal heart morp... OMIM:311200
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo... OMIM:618892
Kleeblattschaedel
Hydrocephalus OMIM:148800
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Wolfram Syndrome 1
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes... OMIM:222300
Congenital Syphilis
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Prolonged neonatal ... ORPHA:499009
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Extramedullary hematopoiesis, Long philtrum, Ascites, Hepatosplenomegaly, Pancy... OMIM:259720
Whipple Disease
Splenomegaly, Hyponatremia, Hepatomegaly, Hypothyroidism, Erectile dysfunction, Hydrocephalus, My... ORPHA:3452
Pseudo-Torch Syndrome 1
Increased CSF protein concentration, Ventriculomegaly, Cleft lip, Microretrognathia, Long philtru... OMIM:251290
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... OMIM:612714
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Natal tooth, Hamartoma of tongue, Ascites, Median cleft palate, Splenomegaly... OMIM:269860
Pseudo-Torch Syndrome 3
Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit... OMIM:618886
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Ambiguous genitalia, D... OMIM:614969
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Labial hypertroph... ORPHA:96191
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Sinusitis, M... OMIM:226990
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly... OMIM:201100
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Recurrent sinusitis, Decreased proportion of class-switched ... OMIM:607594
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Ventriculomegaly, Abnormal circulating ceruloplasmin c... OMIM:620306
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Mandibular prognathia, Secundum atria... ORPHA:1600
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Cardiomegaly, Elevated circulating creatine kinase ... OMIM:618838
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Increased CSF lactate, Leukocytosis, Left ventricular hypertrophy, Hypothyroidis... ORPHA:90065
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial ... OMIM:614702
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Micrognathia, Cryptorchidism, Malar flattening, Ventricular septa... OMIM:130720
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Microretrognathia, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker m... OMIM:220220
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Hydrocephal... ORPHA:1865
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Gingival bleeding, Increase... ORPHA:77259
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Hydrocephalus, Cleft upper lip, Abnormal mast cell morphology ORPHA:398189
Holoprosencephaly
Abnormality of the spleen, Cryptorchidism, Encephalocele, Ventricular septal defect, Holoprosence... ORPHA:2162
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Lymphadenopathy, Neutropenia... OMIM:150550
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Cleft upper lip, Absent gallbladder, Hepatic cysts, Hy... OMIM:612284
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Congenital Sialidosis Type 2
Abnormal heart morphology, Ascites, Hepatosplenomegaly, Gingival overgrowth, Protruding tongue, H... ORPHA:93400
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Elevated circulating creatinine concentration, Congenital hepa... OMIM:619111
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased CSF protein concentration, Hemophagocytosis, Increased circulating fer... OMIM:603553
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Long philtrum, Open mouth, Ventri... OMIM:618798
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hyponatremia, Hydrocepha... OMIM:620157
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Distal Duplication 5Q
Carious teeth, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defe... ORPHA:96097
Tangier Disease
Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Left ... OMIM:205400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Oligodo... OMIM:607626
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydranencephaly, Microretrognathia, Hepatic sinusoidal dilatation, Dilated third v... OMIM:620371
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Czeizel-Losonci Syndrome
Myelomeningocele, Micrognathia, Hypoplastic nipples, Hydrocephalus, Dextrocardia, Spina bifida, S... ORPHA:2437
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ul... OMIM:620376
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Elevated circulating acylcarnitine concentration, Ventriculomegaly, Cardiomy... ORPHA:228308
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:613027
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Cryptorchidism, Orofacial cleft, Hydrocephalus, Wide mouth, Dandy-Walker malfor... ORPHA:1647
Intellectual Developmental Disorder, X-Linked 30
Thick upper lip vermilion, Open mouth, Thin upper lip vermilion, Hydrocephalus, High palate OMIM:300558
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long philtrum, Thick lower lip vermilion, Thick upper l... OMIM:239850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Walker-Warburg Syndrome
Bifid uvula, Ventriculomegaly, Abnormal circulating creatine kinase concentration, Cryptorchidism... ORPHA:899
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomeg... ORPHA:264580
Chromosome 6Pter-P24 Deletion Syndrome
Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental morphology, Narrow mouth, ... OMIM:612582
Fetal Cytomegalovirus Syndrome
Ventriculomegaly, Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conj... ORPHA:294
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Hurler Syndrome
Cardiomyopathy, Hepatosplenomegaly, Gingival overgrowth, Endocardial fibroelastosis, Splenomegaly... OMIM:607014
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial... ORPHA:57777
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy ORPHA:79292
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Bifid uvula, Dilated cardiomyopathy, Hepatitis, Micrognathia, Hepatic s... OMIM:614921
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Ventricular septal defect, ... ORPHA:163979
Multiple Sulfatase Deficiency
Hepatomegaly, Smooth philtrum, Splenomegaly, Hydrocephalus ORPHA:585
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatomegaly OMIM:272200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryp... OMIM:612541
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Hydrolethalus Syndrome 2
Ventriculomegaly, Micrognathia, Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Desmosterolosis
Total anomalous pulmonary venous return, Ventriculomegaly, Abnormal circulating cholesterol conce... OMIM:602398
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... OMIM:620609
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Orofacial clef... ORPHA:3427
Sialuria
Long philtrum, Splenomegaly, Thin upper lip vermilion, Smooth philtrum, Hypoplastic nipples, Hepa... OMIM:269921
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Hydrocephalus ORPHA:2770
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Ventricular septal defect, Subvalvular aortic stenosis, Hydrocephalus, Atrial sep... OMIM:613001
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Bilateral cleft palate, S... OMIM:610829