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Gene: Ctnnbip1 MGI:1915756

Gene Summary

Name:

catenin beta interacting protein 1

Synonyms:

Catnbip1, 2310001I19Rik, ICAT, 1110008O09Rik

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	Allele	Zyg	Life Stage	P Value
thrombocytosis	Ctnnbip1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.19×10^-05
enlarged heart	Ctnnbip1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Ctnnbip1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Liver	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	50% (1 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (1 of 1)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (1 of 1)
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	100% (1 of 1)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (1 of 1)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (1 of 1)
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	100% (1 of 1)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (1 of 1)
Heart	N/A	heterozygote	Not available
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (1 of 1)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (1 of 1)
Liver	N/A	heterozygote	Not available
Liver	N/A	homozygote	Not available
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	Not available
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	Not available
Maxillary process	N/A	homozygote	Not available
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	Not available
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	Not available
Skin	N/A	homozygote	Not available
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	100% (1 of 1)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (1 of 1)

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

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

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

28 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

Adult LacZ

LacZ Images Wholemount

21 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

View images

Human diseases caused by Ctnnbip1 mutations

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

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

Human diseases associated with Ctnnbip1 (0 diseases)
Human diseases predicted to be associated with Ctnnbip1 (669 diseases)

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

The table below shows human diseases predicted to be associated to Ctnnbip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Ethanolaminosis	Cardiomegaly	OMIM:227150
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Short nose, Depressed nasa...	OMIM:613885
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Burn-Mckeown Syndrome	Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Unilateral renal agenesis, Underd...	OMIM:608572
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal...	OMIM:615524
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate, Unilateral renal agenesis, Underdeveloped nasal alae	OMIM:601355
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Long nose, Carious t...	OMIM:613680
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Broad nasal tip, Diastema, Micrognathia, Patent ductus arteriosus, Hyd...	OMIM:609757
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilatera...	OMIM:618845
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unil...	ORPHA:363444
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Depressed nasal bridge, Unilateral renal agenesis, Micrognathia, Pat...	OMIM:618142
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Unilateral renal agenesis, Cleft lip, Flared nostrils, Pierre-Robin seq...	OMIM:619504
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Depressed nasal bridge, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disea...	OMIM:617661
Ring Chromosome 8 Syndrome	Anteverted nares, Abnormality of the ureter, Short nose, Hydronephrosis, Abnormal palate morphology	ORPHA:1450
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Thin upper lip vermilion, Agenesis of corpus callosum, Unilateral renal ag...	ORPHA:2512
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Micrognathia, Cleft p...	OMIM:601076
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overhanging nasal tip, Unilateral renal agenesis, High, narrow palate, ...	OMIM:618494
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Unilateral renal agenesis,...	ORPHA:1064
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Anophthalmia, Depressed nasal bridge, Wide nose,...	ORPHA:261344
Hydrolethalus	Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate...	ORPHA:2189
Emanuel Syndrome	Broad jaw, Recurrent urinary tract infections, Dental crowding, Intestinal malrotation, Unilatera...	OMIM:609029
Nager Syndrome	Unilateral renal agenesis, Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, No...	ORPHA:245
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia, Agenesis of co...	OMIM:164180
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Anosmia, Cleft palate, Hyposmia, Micropenis	OMIM:244200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Submuc...	OMIM:619227
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Patent ductus ...	ORPHA:3378
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Unilateral renal agenesis, Micrognathia, P...	ORPHA:96170
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Anteverted nares, Unilateral renal agenesis, Hydrocephalus, Open mout...	OMIM:616362
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary ce...	ORPHA:66625
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cl...	ORPHA:1104
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Unilateral renal agenesis, Patent ductus arteriosus, Hydrocephalus, Esophageal ...	OMIM:614576
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Renal malrotation, Intestinal malrotation, Unilateral renal ag...	OMIM:113650
Intellectual Developmental Disorder, Autosomal Recessive 71	Increased overbite, Micropenis, Unilateral renal agenesis, Abnormally large globe	OMIM:618504
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Unilateral renal age...	OMIM:619951
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:824
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Anteverted nares, Unilateral renal agenesis, Multiple sma...	OMIM:216360
Inverted Duplicated Chromosome 15 Syndrome	High palate, Short philtrum, Unilateral renal agenesis, Broad nasal tip	ORPHA:3306
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip...	ORPHA:411986
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Esophageal atresia, Patent ductus arteriosus, Hyd...	ORPHA:77298
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Fraser Syndrome 2	Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa...	OMIM:617666
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Depressed nasal ridge, ...	ORPHA:1046
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li...	OMIM:147250
Joubert Syndrome 15	Micropenis, Exencephaly, Nephronophthisis	OMIM:614464
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft...	OMIM:610829
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesi...	ORPHA:141099
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology	ORPHA:281090
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Glomer...	ORPHA:2260
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Micrognathia, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Re...	OMIM:614083
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Bulbo...	OMIM:616737
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Bulbous nose, Anteriorly place...	OMIM:608980
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Cleft palate, Cleft upper lip	OMIM:236110
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard p...	ORPHA:2250
Kallmann Syndrome With Spastic Paraplegia	High palate, Micropenis, Anosmia, Unilateral renal agenesis	OMIM:308750
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Anteverted nares, Unilateral renal...	OMIM:617641
Shashi-Pena Syndrome	Thin upper lip vermilion, Unilateral renal agenesis, Broad nasal tip, Patent ductus arteriosus, R...	OMIM:617190
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Micrognathia, Patent du...	ORPHA:2547
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Prominent nose, Abnormal preputium morphology, Bulbous nose, Glandular hypospa...	ORPHA:293725
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Unilateral renal agenesis	OMIM:206750
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta...	OMIM:136760
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Broad nasal tip, Deep philtrum,...	OMIM:619194
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Unila...	OMIM:101800
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Renal hypoplasia, Cleft palate, High palate, Narrow...	OMIM:246560
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductu...	ORPHA:171839
Braddock Syndrome	Unilateral renal agenesis, Micrognathia	ORPHA:52047
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy...	OMIM:236500
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Klippel-Feil Syndrome 1, Autosomal Dominant	Cleft palate, Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Cerebrooculonasal Syndrome	Encephalocele, U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Optic nerve hypoplas...	OMIM:605627
Distal 22Q11.2 Microduplication Syndrome	Smooth philtrum, Branchial fistula, Wide nose, Mandibular prognathia, Unilateral renal agenesis, ...	ORPHA:261337
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary...	OMIM:614527
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosen...	ORPHA:2162
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Anosmia, High palate, Hyposmia, Micropenis	OMIM:308700
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis,...	OMIM:618188
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Micr...	ORPHA:899
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Aplasia/Hypoplas...	ORPHA:564
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Micrognathia, Patent ductus arteriosus, Bilateral microphthalmos...	OMIM:601186
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Prominent nasa...	ORPHA:468631
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Microphthalmia With Limb Anomalies	Anophthalmia, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nostrils, Cleft pala...	OMIM:206920
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Micro...	ORPHA:2470
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cleft soft palate, Dental cro...	OMIM:616331
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Broad nasal tip, To...	OMIM:616541
Fraser Syndrome 1	Anophthalmia, Cleft ala nasi, Dental crowding, Choanal stenosis, Micropenis, Abnormality of the a...	OMIM:219000
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia	OMIM:274265
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atr...	ORPHA:2052
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Micrognathia, Esophageal at...	ORPHA:3412
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Prominent nasal bridge, Unilateral renal agenesis, Cleft upper lip, Microg...	OMIM:154400
Bresek Syndrome	Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Hyd...	ORPHA:85284
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Unilateral renal agenesis	OMIM:614900
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, Abnormality of the ureter, High palate, Umbilical hernia, Convex nasal ridge	ORPHA:1035
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Unilateral renal agenesis, Broad n...	ORPHA:96121
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Zttk Syndrome	Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypopl...	OMIM:617140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Anteverted nares, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Hypoplasia...	OMIM:213980
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Renal cyst, Holoprosencep...	OMIM:270400
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis, Hiatus hernia	OMIM:606408
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na...	ORPHA:1248
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Recurrent urinary tract infections, Depressed nasal bridge, Hypospadias, D...	OMIM:619103
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Renal agenesis, Optic nerve hypoplasia, Anteverted nare...	OMIM:615583
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Prominent na...	ORPHA:2673
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Organic aciduria, Agenesis of co...	ORPHA:99742
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t...	OMIM:620107
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Stomatitis, Glossitis	ORPHA:79284
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Unilateral renal agenesis, Pat...	ORPHA:487796
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Intestinal malrotation, Renal hypopla...	ORPHA:2538
Neurooculorenal Syndrome	Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Micrognathia, Aqued...	OMIM:620305
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia, Hepatomegaly	OMIM:226300
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	OMIM:616367
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Anteverted nares, Optic nerve hypoplasia, Unilateral renal ag...	ORPHA:221139
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Microphthalmia With Limb Anomalies	Death in infancy, Depressed nasal bridge, Macrodontia, Hypoplasia of the premaxilla, Cleft upper ...	ORPHA:1106
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-midline cleft lip, Abnormality of the ...	ORPHA:1770
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Anal atresia, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed nasal ridge, ...	ORPHA:2412
Myoectodermal Gonadal Dysgenesis Syndrome	Smooth philtrum, Unilateral renal agenesis, Underdeveloped nasal alae, Pyloric stenosis, Thin ver...	OMIM:618419
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Coffin-Siris Syndrome 11	Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o...	OMIM:618779
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Micrognathia, Hydrocephalus, Cleft palate, Spinal...	ORPHA:1926
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Depressed nasal bridge, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Stillbirth, Umb...	OMIM:308050
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas...	ORPHA:1133
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela...	ORPHA:819
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hypospadias, Micrognathia, Malar prominence, Abnormality of the urete...	ORPHA:2522
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly	ORPHA:858
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Renal insufficiency, Anteverted nares, Depressed nasal bridge, Unilateral ...	OMIM:181270
Leopard Syndrome 1	Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Depressed nasal ridge, Cleft palat...	OMIM:151100
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Single naris, Renal cyst, Hyperechogenic ki...	OMIM:615636
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Renal insufficiency, Proteinuria, Prominent nasal bridge, Hypoplasia of the ma...	ORPHA:1307
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Open mouth, A...	ORPHA:457284
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Micrognathia, Hydrocephalus, Abnormality of the ureter, Tracheoesophage...	ORPHA:1834
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Underdeveloped nasal alae, Micrognathia, Renal hypoplasia, Dow...	ORPHA:264200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Choanal atresia, Unilateral renal agenesis, Depressed nasal bridge, High, narrow pal...	ORPHA:95699
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary tee...	ORPHA:90322
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Lymphopenia, Thrombocytosis, Anemia	OMIM:615934
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Cleft ala nasi, Anteriorly placed anus, Oligodontia, Spina bi...	OMIM:305600
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Cockayne Syndrome Type 1	Mandibular prognathia, Renal insufficiency, Anophthalmia, Proteinuria, Delayed eruption of primar...	ORPHA:90321
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Hydrocephalus, Wide...	OMIM:601499
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thin upper lip vermilion, Microretrognathia, Anteverted nares, Abnormality of the...	ORPHA:508488
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Abnormality of the den...	ORPHA:2712
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Depressed nasal bridge, Choanal atresia, Cleft upper lip...	ORPHA:138
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Anteverted nares, Abnormality of the dentit...	ORPHA:261318
Schilbach-Rott Syndrome	Hypospadias, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Narrow mouth, ...	OMIM:164220
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Myelomen...	ORPHA:1756
Meckel Syndrome 12	Anteverted nares, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Wide nasal bridge, Bilater...	OMIM:616258
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, R...	ORPHA:90324
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Narrow nasal tip, Unilateral renal agenesis, Prominent nasal bridge, Pyloric stenosi...	ORPHA:464306
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Anteverted nares, Depressed nasal bridge, Meningocele, Abnormality of the ureter, Cl...	ORPHA:2311
Lowry-Maclean Syndrome	Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	ORPHA:2409
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Prominent nasal bridge, Unilateral renal agenesis, Patent ductus arteriosus, Renal c...	ORPHA:464311
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Axenfeld-Rieger Syndrome	Anal stenosis, Depressed nasal bridge, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:782
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Polycystic kidney ...	ORPHA:2237
Penoscrotal Transposition	Hypospadias, Renal agenesis, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,...	ORPHA:2842
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Prominent nasal bridge, Micrognathia, Abnormali...	ORPHA:3409
Pallister-Hall Syndrome	Ectopic kidney, Depressed nasal ridge, Holoprosencephaly, Micropenis, Bifid uvula, Microretrognat...	ORPHA:672
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Depressed nasal ridge, Exencep...	ORPHA:2211
Poems Syndrome	Pericardial effusion, Thrombocytosis, Polycythemia, Visceromegaly	ORPHA:2905
Syndromic Diarrhea	Hepatomegaly, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, S...	ORPHA:84064
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Ante...	OMIM:220500
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidn...	OMIM:164210
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Micrognathia,...	OMIM:618529
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter, Downturned corners of mouth...	OMIM:180860
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Prominent nasal bridge, Unilateral renal agenesi...	ORPHA:268261
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Patent ductus arteriosus, Unilateral renal agenesis	OMIM:620024
Peutz-Jeghers Syndrome	Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the nose, Esophagea...	ORPHA:2869
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hepatomegaly	ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Thrombocytosis, Anemia	ORPHA:20
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate, Agenesis of corpus callosum	ORPHA:139471
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Baller-Gerold Syndrome	Narrow nasal bridge, Prominent nasal bridge, Malabsorption, Micrognathia, Abnormality of the uret...	ORPHA:1225
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Microphthalmia	OMIM:611561
Desmosterolosis	Renal agenesis, Depressed nasal bridge, Intestinal malrotation, Renal hypoplasia/aplasia, Abnorma...	ORPHA:35107
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Depressed nasal bridge, Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral renal agene...	ORPHA:500150
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Hypospadias, Prominent nasal bridge, Broad nasal tip, Bi...	OMIM:300166
Marden-Walker Syndrome	Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abnormal penis morphology, Mu...	ORPHA:2461
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Schisis Association	Encephalocele, Renal agenesis, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate...	ORPHA:63862
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Thrombocytosis	OMIM:212065
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Choanal atr...	ORPHA:280200
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Dental crowding, Mic...	OMIM:300990
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Anteverted nares, Cleft soft palate, Micrognathia, Patent ductus arteriosus, Wide na...	ORPHA:2282
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Bifid uvula	OMIM:617660
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Carious teeth, Cleft lip, Patent ductus arterio...	OMIM:117650
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Esophageal atresia, Paten...	OMIM:206900
Czeizel-Losonci Syndrome	Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral ...	ORPHA:2437
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Hepatosplenomegal...	OMIM:615688
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Wide nose, Anophthalmia, Hypospadias, Abnormal dental enamel morpholog...	ORPHA:2556
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif...	ORPHA:2521
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis...	OMIM:146510
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephal...	ORPHA:861
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:106260
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pulmonic s...	OMIM:222470
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Broad nasal tip, Micrognathia, Hypoplasia of the m...	OMIM:620157
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Raine Syndrome	Mandibular prognathia, Micrognathia, Choanal stenosis, High palate, Neonatal death, Microdontia, ...	OMIM:259775
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Smooth philtrum	OMIM:614526
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, High, narrow palate, Long philtru...	ORPHA:1101
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premax...	ORPHA:2166
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasal septum, Holo...	OMIM:610828
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Prominent nasal bridge, Abnormal dental enamel morphology, Und...	ORPHA:96169
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Smooth philtrum, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hydrocephalus...	OMIM:619321
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 chronic kidney...	OMIM:166300
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Prominent nasal bridge, Aganglionic megac...	ORPHA:261222
Aarskog-Scott Syndrome	Delayed eruption of teeth, Anteverted nares, Cleft upper lip, Abnormality of the dentition, Hypop...	ORPHA:915
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ...	OMIM:619950
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia, Hepatomegaly	OMIM:615486
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Spastic Paraplegia 16, X-Linked	Urinary urgency, Hypoplasia of the maxilla, Urinary bladder sphincter dysfunction, Urinary incont...	OMIM:300266
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,...	ORPHA:3260
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Hypospadias, Underdeveloped nasal alae, Conical tooth, Cleft upper lip, V...	OMIM:129400
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Downturned corners of m...	ORPHA:1299
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,...	OMIM:614701
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:269920
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Submuc...	OMIM:157170
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Renal agenesis, Ectopic kidney, Micrognathia, Renal hypoplasia...	OMIM:212780
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Charge Syndrome	Anophthalmia, Micrognathia, Holoprosencephaly, Micropenis, Cleft upper lip, Esophageal atresia, P...	OMIM:214800
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex...	OMIM:156510
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Branchiooculofacial Syndrome	Anophthalmia, Renal agenesis, Hypospadias, Depressed nasal bridge, Broad nasal tip, Malrotation o...	OMIM:113620
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ...	ORPHA:250999
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ...	OMIM:608670
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve...	OMIM:602200
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge	OMIM:618302
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Depr...	OMIM:614080
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly	OMIM:618886
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Anteverted nares, High, narrow palate, Patent ductus arteriosus, Submuc...	OMIM:612863
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Convex nasal ridge, ...	ORPHA:93262
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Micrognathia, High, narrow palat...	OMIM:188400
3Mc Syndrome 2	Prominence of the premaxilla, Hypospadias, Prominent nasal bridge, Cleft upper lip, Wide nasal br...	OMIM:265050
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Lobulated tongue, Agenesis of corpus callosum, Cleft upper...	OMIM:249000
Cree Mental Retardation Syndrome	Hypospadias, Cleft soft palate, Micrognathia	OMIM:606851
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus, Wide nasal...	OMIM:614886
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias, Long philtrum	OMIM:615877
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Alagille Syndrome	Renal hypoplasia/aplasia, Long nose, Micrognathia, Abnormality of the ureter, Nephrotic syndrome,...	ORPHA:52
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Wide nose, Micrognathia, Hydrocephalus, Ureteral ...	OMIM:617667
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Cleft palate, Vesicoureteral reflux, Short nose	OMIM:614261
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Micrognathia, Patent ductu...	OMIM:115470
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Broad nasal tip, Deep philtrum, Non-midline cleft l...	ORPHA:1297
Brucellosis	Hepatomegaly, Pericarditis, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Myocardi...	ORPHA:1304
Mohr Syndrome	Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t...	OMIM:252100
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Wide n...	ORPHA:2780
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Familial Visceral Myopathy	Hydroureter, Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Micrognathia, Megac...	ORPHA:2604
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate, Micrognathia, Broad nasal tip	ORPHA:166016
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp...	ORPHA:93929
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas...	OMIM:301074
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Malar flatten...	ORPHA:261295
Frontorhiny	Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasa...	ORPHA:391474
Brachycephaly, Trichomegaly, And Developmental Delay	Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili...	OMIM:617412
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc...	OMIM:301043
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Prominent nose, Micrognathia, Deep philtrum, Downturned c...	OMIM:619503
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Carpenter Syndrome 1	Hydroureter, Depressed nasal bridge, Persistence of primary teeth, Micrognathia, Hypoplasia of th...	OMIM:201000
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Hypospadias, Abnormal de...	ORPHA:439822
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal...	OMIM:241310
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Depressed nasal bridge, Micrognathia, Myelomeningocele, Pierre-Robin ...	ORPHA:90652
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Hereditary Orotic Aciduria	Orotic acid crystalluria, Patent ductus arteriosus, Abnormality of the ureter, Wide nasal bridge,...	ORPHA:30
Fibular Hemimelia	Anophthalmia, Renal dysplasia, Spina bifida	ORPHA:93323
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip	ORPHA:2776
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Prune Belly Syndrome	Hydroureter, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral valve, Hydroneph...	OMIM:100100
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Hypospadias, Micrognathia, Bilateral choanal atresia/stenosis...	ORPHA:314679
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Depressed n...	ORPHA:178303
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Convex nasal ridge, Renal h...	ORPHA:3015
Lujan-Fryns Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia o...	ORPHA:776
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum	ORPHA:90653
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc...	OMIM:603903
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, E...	OMIM:619680
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag...	ORPHA:887
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge	OMIM:300676
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Open bite, Micrognathia, ...	OMIM:115150
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Abnormality of th...	ORPHA:3201
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Cleft upper lip, Hydrocephalus, Renal hypoplasia, Holoprosencephal...	OMIM:264480
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:604292
Buratti-Harel Syndrome	Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula	OMIM:619314
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Convex nasal ridge	ORPHA:207
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Myhre Syndrome	Abnormal penis morphology, Mandibular prognathia, Craniofacial hyperostosis, Hypospadias, Hypopla...	ORPHA:2588
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th...	OMIM:101600
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Rhizomelic Chondrodysplasia Punctata, Type 2	Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Submucous cleft h...	OMIM:222765
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D...	ORPHA:2753
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul...	OMIM:211380
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, P...	ORPHA:293939
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ...	OMIM:301068
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat...	OMIM:309520
Loeys-Dietz Syndrome 5	Overhanging nasal tip, Tented upper lip vermilion, Prominent nasal bridge, Cleft soft palate, Hia...	OMIM:615582
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal...	OMIM:313850
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max...	OMIM:601390
Fanconi Anemia, Complementation Group B	Death in infancy, Optic disc hypoplasia, Renal agenesis, Esophageal atresia, Patent ductus arteri...	OMIM:300514
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Anteverted nares, Aganglionic megacolon, Epispadias, Abno...	ORPHA:3339
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Micrognathia, Hypoplasia ...	ORPHA:560
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Underdeveloped nasal alae, Long nose, Micrognathia, H...	OMIM:257850
Pentalogy Of Cantrell	Encephalocele, Renal agenesis, Hypospadias, Non-midline cleft lip, Hydrocephalus, Anencephaly, Cl...	ORPHA:1335
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate, Prominent nasal bridge	ORPHA:85279
Duane-Radial Ray Syndrome	Renal malrotation, Abnormal nasopharynx morphology, Anal stenosis, Renal agenesis, Optic disc hyp...	OMIM:607323
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diastema, ...	OMIM:300534
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Dubowitz Syndrome	Delayed eruption of teeth, Hypospadias, Prominent nasal bridge, Broad nasal tip, Carious teeth, M...	OMIM:223370
Microphthalmia, Syndromic 6	Anophthalmia, Micrognathia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglo...	OMIM:607932
Orofaciodigital Syndrome Type 10	Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ...	ORPHA:2756
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Tetraamelia Syndrome 1	Renal agenesis, Choanal atresia, Cleft upper lip, Micrognathia, Hydrocephalus, Single naris, Clef...	OMIM:273395
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Mandibular prognathia, Hypospadias, Choanal atresia, Abnormal dental e...	ORPHA:2658
Keipert Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid...	ORPHA:2662
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Abnormality of the dentition, Abnormality of ca...	ORPHA:363417
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Death in early adulthood, Depres...	ORPHA:192
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula	OMIM:601492
Peutz-Jeghers Syndrome	Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Oral melano...	OMIM:175200
Restrictive Dermopathy 1	Ureteral duplication, Natal tooth, Hypospadias, Depressed nasal bridge, Narrow nasal ridge, Choan...	OMIM:275210
Stickler Syndrome, Type I	Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pierre-Robin...	OMIM:108300
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Hypospadias, Depressed nasal bridge, Micrognathi...	OMIM:615546
Martsolf Syndrome 1	Depressed nasal bridge, Broad nasal tip, Micrognathia, Hypoplasia of the maxilla, Tooth malpositi...	OMIM:212720
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc...	ORPHA:289
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Wide nasal bridge, High palate, Short nose, Agenesis of corpus callosum	OMIM:218000
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid...	OMIM:618106
Microphthalmia, Syndromic 1	Anophthalmia, Hydroureter, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Dental c...	OMIM:309800
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Choanal atresia, Intestinal malrotation, Cleft palate, Rectovaginal fistula...	OMIM:270420
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Schwartz-Jampel Syndrome	Pursed lips, Death in infancy, Prominent nasal bridge, Micrognathia, Trismus, Supernumerary tooth...	ORPHA:800
Dextrocardia	Intestinal malrotation, Hydrocephalus, Abnormal renal morphology, Abnormality of the ureter, Meck...	ORPHA:1666
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Nablus Mask-Like Facial Syndrome	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality ...	OMIM:608156
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Hypospadias, Malabsorption, Abn...	ORPHA:235
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
Lumbar Syndrome	Hypospadias, Renal agenesis, Spina bifida, Myelomeningocele, Ectopic anus, Vesicoureteral reflux,...	ORPHA:83628
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate	OMIM:620183
W Syndrome	Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr...	ORPHA:2804
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Renal cyst, Agenesis of corpus callosum, Micror...	OMIM:229850
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Anteverted nares, Hydrocephalus, Submucous cleft hard palate, High palate...	ORPHA:1340
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus	OMIM:609166
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Patent ductus arteriosus after birth...	ORPHA:251061
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Wide nose, Hydroureter, Depressed nasal bridge, Thin upper lip vermili...	OMIM:300707
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Thick vermilion border, Long philtr...	ORPHA:2526
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Choanal stenosis, H...	ORPHA:798
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Hemochromatosis, Type 1	Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Neu-Laxova Syndrome	Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Submucous cleft hard palate, De...	ORPHA:2671
Cohen Syndrome	Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt...	OMIM:216550
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Small bowel diverticula, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,...	ORPHA:79113
Acrodysostosis	Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Open ...	ORPHA:950
Dysostosis, Stanescu Type	Narrow nasal bridge, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal na...	ORPHA:1798
15q26 overgrowth syndrome	Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Prominent nose, Micrognathia, B...	DECIPHER:81
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma...	ORPHA:50814
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology	ORPHA:1540
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Depressed nasal bridge, Urolithiasis, Hyperuricosuria, Wide mou...	OMIM:300661
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa...	OMIM:609460
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Vertebral Hypersegmentation And Orofacial Anomalies	Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle...	OMIM:619122
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narr...	ORPHA:2554
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ...	OMIM:612292
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Thin vermilion border, High palate, Lo...	ORPHA:481152
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo...	OMIM:154500
White-Kernohan Syndrome	Thin upper lip vermilion, Hydroureter, Depressed nasal bridge, Anteverted nares, Tented upper lip...	OMIM:619426
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Oral mucosal blisters, Urinary bladder inflammation, Congeni...	ORPHA:79403
Marshall-Smith Syndrome	Irregular dentition, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High palate, Short p...	OMIM:602535
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bladder diverticulum, Umbilical hernia, Patent ductus arteriosus, Cleft soft palate	OMIM:614557
Atelosteogenesis, Type Iii	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening	OMIM:108721
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia...	ORPHA:2973
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Agenesis of corpus ca...	OMIM:109120
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Iniencephaly	Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofac...	ORPHA:63259
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Over...	OMIM:619142
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:397973
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia...	OMIM:170390
Arthrogryposis, Distal, Type 3	Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula	OMIM:114300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy...	ORPHA:306542
Velocardiofacial Syndrome	Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velopharyngeal insufficienc...	OMIM:192430
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Dental crowding, Prominent nose, High, narrow palate, Patent ductus arterios...	OMIM:300967
Campomelic Dysplasia	Irregular dentition, Depressed nasal bridge, Hypospadias, Spina bifida, Micrognathia, Carious tee...	OMIM:114290
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Anteverted nares, Prominent nasal bridge, Narrow n...	OMIM:620370
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, De...	OMIM:123500
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Anteverted nares, Dental crowding, Broad nasal tip, Hypoplasia of the maxi...	OMIM:617402
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Aarskog-Scott Syndrome	Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu...	OMIM:305400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Prominent nose, L...	ORPHA:2636
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Promin...	ORPHA:763
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Rieger anomaly, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, ...	OMIM:180500
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti...	ORPHA:193
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te...	ORPHA:2152
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Renal age...	OMIM:192350
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Patent ductus ...	OMIM:608149
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate, Micrognathia	ORPHA:93316
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Oligodontia, U...	ORPHA:2095
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261537
Coffin-Siris Syndrome 12	Anteverted nares, Hypospadias, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nas...	OMIM:619325
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, My...	OMIM:258040
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate,...	OMIM:616462
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the maxilla, Patent...	ORPHA:79345
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Megacystis, ...	ORPHA:2241
Acrorenal-Mandibular Syndrome	Renal agenesis, Micrognathia, Abnormality of the ureter, Narrow palate, Aplasia of the bladder, H...	OMIM:200980
Penile Agenesis	Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Fetal pyelectasis, B...	ORPHA:49
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Lateral ventricle dilata...	ORPHA:457279
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261552
Van Den Ende-Gupta Syndrome	Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Micrognathia, High, narrow pa...	OMIM:600920
Osteoglophonic Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Hypospadias, Depressed nasal ...	OMIM:166250
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Underdeveloped nas...	OMIM:209885
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft pa...	ORPHA:1848
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil...	ORPHA:228396
Neu-Laxova Syndrome 1	Wide nose, Renal agenesis, Spina bifida, Swollen lip, Cleft upper lip, Micrognathia, Patent ductu...	OMIM:256520
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Restrictive Dermopathy	Ureteral duplication, Aplasia/Hypoplasia involving the nose, Natal tooth, Hypospadias, Choanal at...	ORPHA:1662
Chand Syndrome	Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre...	ORPHA:1401
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Ectopic kidney, Bulbous nose, Wide...	ORPHA:140952
Rubinstein-Taybi Syndrome 1	Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Hi...	OMIM:180849
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph...	ORPHA:79330
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr...	OMIM:619472
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop...	OMIM:601812
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Floating-Harbor Syndrome	Long nose, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ...	ORPHA:2044
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:608013
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c...	ORPHA:2968
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral re...	ORPHA:3455
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Hypoplasia of the maxilla, Bilateral microphthalmos, Recurrent upper respiratory tract...	ORPHA:2399
Doors Syndrome	Thrombocytosis, Double outlet right ventricle	ORPHA:79500
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Bartsocas-Papas Syndrome 1	Anal atresia, Anal stenosis, Underdeveloped nasal alae, Ectopic kidney, Cleft upper lip, Hypoplas...	OMIM:263650
Mowat-Wilson Syndrome	Prominent nasal tip, Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Aganglion...	OMIM:235730
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac...	OMIM:600145
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, D-2-hydroxyglutaric aciduria, Thin vermilion border, Long philtrum, Re...	ORPHA:99646
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospa...	ORPHA:93111
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Double Outlet Right Ventricle	Depressed nasal bridge, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow...	ORPHA:3426
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Par...	OMIM:304050
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Chordee, Hypospadias, Narrow nose	OMIM:618891
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, Downturned corners of mouth, High palate, Pe...	OMIM:619522
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypopla...	ORPHA:920
Meier-Gorlin Syndrome 3	Microretrognathia, Hypospadias, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:613803
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Depressed nasal bridge, Ectopic kidney, Cleft upper lip, Patent ductus arteriosus, S...	OMIM:607872
Native American Myopathy	Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate...	ORPHA:168572
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Shprintzen-Goldberg Craniosynostosis Syndrome	Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Na...	OMIM:182212
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte...	ORPHA:69085
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon	OMIM:619431
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Splenomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:465508
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N...	OMIM:277600
Tolchin-Le Caignec Syndrome	Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Narrow...	OMIM:618971
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Saethre-Chotzen Syndrome	Depressed nasal bridge, Prominent nasal bridge, Open bite, Hypoplasia of the maxilla, Cleft palat...	ORPHA:794
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:615108
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Prominent nose, Long nose, Micrognathia, Bulbous nose, Patent ductus arteriosus, Submucous cleft ...	ORPHA:3047
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormal stomach morphology, Patent ductus arteriosus, Abnormality of ...	ORPHA:141127
Dyskeratosis Congenita	Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Hypoplasia of th...	ORPHA:1775
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Anteriorly...	OMIM:261540
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:615109
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2462
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Meier-Gorlin Syndrome 1	Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Thick vermi...	OMIM:224690
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N...	OMIM:608328
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo...	OMIM:305100
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Malabsorption, Hiatus hernia, Cleft upper lip...	ORPHA:50
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:158350
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Hypoplasia of the maxill...	OMIM:139210
Stickler Syndrome	Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Cleft upper lip, Ope...	ORPHA:828
Diphallia	Ureteral duplication, Renal malrotation, Rectoperineal fistula, Hypospadias, Distal urethral dupl...	ORPHA:227
Fucosidosis	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:230000
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate	ORPHA:96129
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Anemia	ORPHA:14
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly	OMIM:620306
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:232300
Multicentric Osteolysis, Nodulosis, And Arthropathy	Narrow nasal bridge, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Bulbous ...	OMIM:259600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ...	ORPHA:96334
Greenberg Dysplasia	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large placenta, Depressed nasal ...	OMIM:215140
Neuroocular Syndrome	Hypoplasia of the fovea, Short uvula, Lens coloboma, Submucous cleft hard palate, Downturned corn...	OMIM:619539
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia, Narrow mouth	OMIM:613804
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve...	ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening	OMIM:231070
Saethre-Chotzen Syndrome	Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Buphthalmos, Ma...	OMIM:101400
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, High palate, Co...	OMIM:614437
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Dental crowd...	OMIM:614188
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia,...	OMIM:619991
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Micrognathia	OMIM:601374
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia	OMIM:256040
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Visceromegal...	ORPHA:116
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot	ORPHA:3472
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Primrose Syndrome	Depressed nasal bridge, Anteverted nares, Broad nasal tip, Hypoplasia of the maxilla, Thick lower...	OMIM:259050
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106

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 Ctnnbip1

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 Ctnnbip1.

No publications found that use IMPC mice or data for Ctnnbip1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ctnnbip1^{tm577(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ctnnbip1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ctnnbip1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ctnnbip1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ctnnbip1 MGI:1915756

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

X-ray

X-ray

Adult LacZ

Embryo LacZ

MicroCT E14.5-E15.5

Human diseases caused by Ctnnbip1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data