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Gene: Enkur MGI:1918483

Gene Summary

Name:

enkurin, TRPC channel interacting protein

Synonyms:

4933434I06Rik

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
abnormal head shape	Enkur^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Enkur^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal skin coloration	Enkur^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal facial morphology	Enkur^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Enkur^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal skin morphology	Enkur^em1(IMPC)Mbp	HET	Early adult	0.00
male infertility	Enkur^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal head size	Enkur^em1(IMPC)Mbp	HOM	E18.5	0.00
hemorrhage	Enkur^em1(IMPC)Mbp	HOM	E18.5	0.00
increased circulating alkaline phosphatase level	Enkur^em1(IMPC)Mbp	HET	Early adult	1.04×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E18.5

Images

10 Images

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MicroCT E18.5

Embryo reconstruction

10 Images

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Human diseases caused by Enkur 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 Enkur (0 diseases)
Human diseases predicted to be associated with Enkur (762 diseases)

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

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Asplenia	OMIM:618948
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration	ORPHA:206599
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo...	OMIM:620438
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619528
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 50	Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 63	Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 25	Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617960
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Male infertility, Heterotaxy, Reduced sperm motility, Immotile sperm, Pol...	OMIM:613807
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes...	OMIM:619608
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Dextrocardia, Abdominal situs inversus	OMIM:619607
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Ciliary Dyskinesia, Primary, 18	Abdominal situs ambiguus, Situs inversus totalis, Male infertility, Immotile sperm	OMIM:614874
Spermatogenic Failure 30	Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	OMIM:618110
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Male infertility	OMIM:300991
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia, Gastroesophageal reflux, Infertility, Polysplenia	OMIM:615482
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Azoospermia, Infertility, Left Isomerism, ...	OMIM:618300
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia	ORPHA:1646
Primary Ciliary Dyskinesia	Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar...	ORPHA:244
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Ciliary Dyskinesia, Primary, 29	Situs inversus totalis, Infertility	OMIM:615872
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Immotile sperm, Reduced sperm motility	OMIM:612650
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Hypoglossia With Situs Inversus	Situs inversus totalis, High palate, Asplenia, Microglossia, Polysplenia	OMIM:612776
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Infertility, Reduced sperm motility	OMIM:615500
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypogonadism	OMIM:615985
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Infertility	OMIM:615481
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Transposition of the great arteries, Atrioventricular canal defect, Dextr...	OMIM:605376
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Infertility, Dextrocardia	OMIM:618063
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Infertility, Reduced sperm motility, Dextrocardia	OMIM:615444
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Infertility	OMIM:613193
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Reduced sperm motility	OMIM:615434
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon...	OMIM:208530
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis, Infertility, Immotile sperm	OMIM:613808
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Female infertility	OMIM:617577
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrophic cardiomyopath...	OMIM:615415
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Infertility	OMIM:616481
Nephronophthisis 16	Situs inversus totalis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Pulmonic s...	OMIM:615382
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Male infertility, Asplenia	OMIM:244400
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Infertility, Dextrocardia	OMIM:606763
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, C...	OMIM:208540
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis, Reduced sperm motility	OMIM:608647
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon...	OMIM:614779
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Hepatomegaly, Gastroesophageal reflux	OMIM:619881
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Male infertility	OMIM:614935
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Aganglionic megacolon, Pulmonary valve atresia, Atrioven...	ORPHA:210122
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Bradycardia, Microcephaly, Flat occiput	ORPHA:2898
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, High palate, Ventricular sept...	OMIM:619657
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Thrombocyt...	OMIM:249270
Ciliary Dyskinesia, Primary, 35	Abdominal situs ambiguus, Situs inversus totalis	OMIM:617092
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Premature ovarian insufficiency, Cholelithiasis, Chronic active hepatitis, Asplenia, Female hypog...	OMIM:240300
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Intestinal malrotation, Duodenal...	ORPHA:1759
Dextrocardia	Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malr...	ORPHA:1666
Nephronophthisis 14	Situs inversus totalis	OMIM:614844
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis	OMIM:608644
Heterotaxy, Visceral, 1, X-Linked	Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism...	OMIM:306955
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Cleft palate, Ventricular septal defe...	OMIM:619123
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility, Splenomegaly	OMIM:602271
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Ectopia of the ...	OMIM:613751
Meckel Syndrome, Type 7	Situs inversus totalis, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferat...	OMIM:267010
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia, Hypogonadism	OMIM:615994
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis	OMIM:620032
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Single ventricle, Double inlet left ventricle, Dextrocardia, Total...	OMIM:270100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hepatic cysts	OMIM:613095
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis	OMIM:615451
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Polymicrogyria, Lissencephaly	OMIM:614833
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis	OMIM:614017
Mosaic Trisomy 9	Abnormal liver lobulation, Dextrocardia, Abnormal heart valve morphology, High palate, Asplenia, ...	ORPHA:99776
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Prominent occiput	ORPHA:1665
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis	OMIM:615504
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis	OMIM:615505
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Dextrocardia	OMIM:606217
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Double outlet right ventricle, Ventr...	OMIM:615067
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se...	OMIM:620570
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis	OMIM:612518
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular...	OMIM:607941
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Adenylosuccinate Lyase Deficiency	Microcephaly, Flat occiput, Brachycephaly	ORPHA:46
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Autoimmune Polyendocrine Syndrome, Type Ii	Steatorrhea, Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic ...	OMIM:269200
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Dextrocardia, Anal atresia	ORPHA:2863
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Agnathia-Otocephaly Complex	Situs inversus totalis, Cleft palate, Secundum atrial septal defect, Microglossia, Aglossia	OMIM:202650
Gracile Bone Dysplasia	Hypoplastic spleen, Ankyloglossia, Asplenia	OMIM:602361
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia	ORPHA:48
Marfanoid Habitus With Situs Inversus	Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse	OMIM:609008
Spermatogenic Failure 77	Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia	OMIM:620103
Sweeney-Cox Syndrome	Gastroesophageal reflux, Patent foramen ovale, High palate, Median cleft palate, Anal atresia, As...	OMIM:617746
Heterotaxy, Visceral, 12, Autosomal	Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Left Is...	OMIM:619702
Joubert Syndrome	Situs inversus totalis, Polymicrogyria, Abnormality of neuronal migration, Aganglionic megacolon	ORPHA:475
Feingold Syndrome 1	Gastrointestinal atresia, Annular pancreas, Tricuspid atresia, Esophageal atresia, Accessory sple...	OMIM:164280
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Developmental And Epileptic Encephalopathy 66	Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia	OMIM:618067
Meckel Syndrome	Situs inversus totalis, Accessory spleen, Furrowed tongue, Asplenia, Cleft palate, Congenital hep...	ORPHA:564
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Patent foramen ovale, Abnormality of neuronal migration, Hypoplastic spleen, ...	ORPHA:89844
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Melanocytic nevus	OMIM:612247
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv...	OMIM:265380
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Reduced sperm motility, Abnormal sperm morphology	ORPHA:320391
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Situs inversus totalis, Cleft palate, Tetralogy of Fallot	ORPHA:1908
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Ectopic anus, Anal stenosis, Dextrocardia	OMIM:613686
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Esophageal atresia...	OMIM:314390
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Ciliary Dyskinesia, Primary, 44	Heterotaxy	OMIM:618781
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Nephronophthisis 2	Situs inversus totalis	OMIM:602088
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam...	OMIM:616602
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Brachycephaly	OMIM:620200
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly	ORPHA:2528
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
Pagod Syndrome	Situs inversus totalis, Abnormality of neuronal migration, Abnormality of the spleen, Hypoplastic...	ORPHA:991
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Microglossia	ORPHA:990
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Glossitis, Megaloblastic anemia, High palate, T...	OMIM:277380
Johanson-Blizzard Syndrome	Anemia, Dextrocardia, Anal atresia, Exocrine pancreatic insufficiency, Anteriorly placed anus, Ab...	ORPHA:2315
Non-Distal Duplication 10Q	Microcephaly, Frontal bossing, Brachycephaly	ORPHA:1695
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility	OMIM:612649
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Periventricular heterotopia, High palate, Dextrocardia	OMIM:618929
Poland Syndrome	Dextrocardia	OMIM:173800
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly	ORPHA:1532
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,...	ORPHA:216694
Meckel Syndrome, Type 1	Accessory spleen, Anal atresia, Asplenia, Intestinal malrotation, Bile duct proliferation, Cleft ...	OMIM:249000
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Cleft ...	ORPHA:261197
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Cardiac-Urogenital Syndrome	Atrial septal defect, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Access...	OMIM:618280
Double Outlet Right Ventricle	Heterotaxy, Truncus arteriosus, Intestinal malrotation, Pulmonic stenosis, Cleft palate, Tetralog...	ORPHA:3426
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Ellis Van Creveld Syndrome	Acute leukemia, Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal hea...	ORPHA:289
Marden-Walker Syndrome	High, narrow palate, Dextrocardia, High palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison...	OMIM:248700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Hypertension	ORPHA:52022
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Macrocytic anemia, Coronary artery fistula, Cleft palate, Ventricular septal defect...	OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Polymicrogyria, Median cleft palate, Anal atresia, Atrial septal...	OMIM:264480
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Joubert Syndrome With Ocular Defect	Polymicrogyria, Aganglionic megacolon, Dextrocardia, Cleft palate	ORPHA:220493
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme...	ORPHA:1330
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Pyloric stenosis, ...	ORPHA:2461
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Meacham Syndrome	Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne...	OMIM:608978
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Crouzon Syndrome	Hypopigmented skin patches, Brachycephaly, Turricephaly, Multiple suture craniosynostosis, Fronta...	ORPHA:207
Kleefstra Syndrome 2	Microcephaly, Plagiocephaly	OMIM:617768
Renpenning Syndrome	Anal atresia, High, narrow palate, Cleft palate, Heterotaxy	ORPHA:3242
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Oligozoospermia	ORPHA:3000
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Total anomalous pulmonary venous return	OMIM:106700
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Microcephaly, Flat occiput	OMIM:618736
Muenke Syndrome	Hypopigmented skin patches, Plagiocephaly, Hypermelanotic macule, Brachycephaly, Coronal craniosy...	ORPHA:53271
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Microcephaly, Brachycephaly	ORPHA:320385
Lead Poisoning	Abnormal T cell morphology, Anemia, Decreased male libido, Imbalanced hemoglobin synthesis, Infer...	ORPHA:330015
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Cleft palate, Dextrocardia	ORPHA:2257
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Dextrocardia, Abnormal heart morphology, Tetralogy of Fallot, Aplasia/Hypopl...	ORPHA:96092
Craniosynostosis 2	Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal...	OMIM:604757
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Dilated cardiomyopathy, Dolichocephaly	ORPHA:272
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly	OMIM:618774
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Microcephaly, Brachycephaly	OMIM:309541
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Polymicrogyria, Patent foramen ovale, Infertility, Oligo...	ORPHA:3310
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm	OMIM:242670
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Microcephaly, Brachycephaly	OMIM:615031
Pseudoaminopterin Syndrome	Patent foramen ovale, High palate, Asplenia	ORPHA:221120
Isolated Cleft Lip	Situs inversus totalis, Velopharyngeal insufficiency	ORPHA:199302
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Reduced sperm motility, Mitral valve prolapse, Hepatic cysts, Pancreati...	ORPHA:730
Mirage Syndrome	Anemia, Gastroesophageal reflux, Hypergonadotropic hypogonadism, Hypoplastic spleen, Leukopenia, ...	OMIM:617053
Ring Chromosome 7 Syndrome	Situs inversus totalis, Median cleft palate, Bifid uvula, Cleft palate, Hypogonadism	ORPHA:1449
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
X-Linked Intellectual Disability, Sutherland-Haan Type	Microcephaly, Brachycephaly	ORPHA:93950
Developmental And Epileptic Encephalopathy 65	Microcephaly, Plagiocephaly	OMIM:618008
Menkes Disease	Microcephaly, Hypopigmentation of the skin, Intracranial hemorrhage, Brachycephaly	OMIM:309400
Czeizel-Losonci Syndrome	High palate, Dextrocardia, Tracheoesophageal fistula	ORPHA:2437
Clark-Baraitser Syndrome	Microcephaly, Dolichocephaly, Brachycephaly	OMIM:617752
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Plagiocephaly, Brachycephaly	OMIM:618603
Cornelia De Lange Syndrome 2	Microcephaly, Brachycephaly, Hypertrophic cardiomyopathy	OMIM:300590
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput	OMIM:618672
Pierpont Syndrome	Brachycephaly, Primary microcephaly	ORPHA:487825
Pentasomy X	Microcephaly, Plagiocephaly	ORPHA:11
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Dolichocephaly	OMIM:615433
Scimitar Syndrome	Tricuspid atresia, Partial anomalous pulmonary venous return, Dextrocardia, Truncus arteriosus, V...	ORPHA:185
Mowat-Wilson Syndrome	Bicuspid aortic valve, Aortic valve stenosis, Aganglionic megacolon, Cleft hard palate, Polymicro...	ORPHA:2152
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Unilambdoid synostosis	OMIM:618577
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Microcephaly, Plagiocephaly	OMIM:614563
Congenital Heart Defects And Ectodermal Dysplasia	Microcephaly, Frontal bossing, Brachycephaly	OMIM:617364
Prune1-Related Neurological Syndrome	Microcephaly, Plagiocephaly, Hypertrophic cardiomyopathy	ORPHA:544469
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Cleft hard palate, Polymicrogyria, Asplenia, Pyloric stenosis, Submucous c...	ORPHA:261537
Cardiac Diverticulum	Transposition of the great arteries, Tricuspid atresia, Dextrocardia, Partial anomalous pulmonary...	ORPHA:1686
Craniofrontonasal Dysplasia	Brachycephaly, Plagiocephaly, Microcephaly, Frontal bossing, Craniosynostosis	ORPHA:1520
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Microcephaly, Brachycephaly	ORPHA:352530
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Frontal bossing, Craniosynostosis	ORPHA:314575
Knobloch Syndrome	Pyloric stenosis, Lymphangioma, Dextrocardia	ORPHA:1571
Pierpont Syndrome	Microcephaly, Brachycephaly	OMIM:602342
Tetraamelia Syndrome 1	Cleft palate, Anal atresia, Asplenia	OMIM:273395
Intellectual Developmental Disorder, Autosomal Dominant 74	Microcephaly, Brachycephaly	OMIM:620688
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Intrahepatic cholestasis, Hepatomegaly, Rectovagina...	OMIM:243800
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Global Developmental Delay With Or Without Impaired Intellectual Development	Frontal bossing, Plagiocephaly	OMIM:618330
Lessel-Kreienkamp Syndrome	Pulmonic stenosis, Frontal bossing, Plagiocephaly, Scaphocephaly	OMIM:619149
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, Progressive microcephaly	OMIM:608027
Intellectual Developmental Disorder, Autosomal Dominant 26	Microcephaly, Brachycephaly	OMIM:615834
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Microcephaly, Plagiocephaly	ORPHA:77300
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:70472
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Frontal bossing, Abnormal shape of the occiput, Brachyturricephaly	OMIM:218350
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Cleft hard palate, Polymicrogyria, Ventricular septal defect, Asplenia, Py...	ORPHA:261552
Muenke Syndrome	Coronal craniosynostosis, Cloverleaf skull, Brachycephaly, Plagiocephaly	OMIM:602849
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Microcephaly, Progressive microcephaly, Brachycephaly	OMIM:620240
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Microcephaly, Plagiocephaly	OMIM:617481
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Microcephaly, Frontal bossing, Brachycephaly, Plagiocephaly	OMIM:616801
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Microcephaly, Trigonocephaly, Dolichocephaly, Flat occiput	OMIM:613792
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Microcephaly, Frontal bossing, Dolichocephaly	OMIM:619721
Band Heterotopia	Plagiocephaly	OMIM:600348
Neurooculorenal Syndrome	Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Polymicrogyria, Patent foramen ovale, ...	OMIM:620305
Aminopterin Syndrome Sine Aminopterin	Microcephaly, Frontal bossing, Brachycephaly	OMIM:600325
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Microcephaly, Brachycephaly	OMIM:615419
Renpenning Syndrome 1	Situs inversus totalis, High palate, Anal atresia, Cleft palate, Tetralogy of Fallot, Atrial sept...	OMIM:309500
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Microcephaly, Flat occiput, Brachycephaly	ORPHA:2511
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Microcephaly, Plagiocephaly, Brachycephaly	OMIM:618862
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification	OMIM:618265
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S...	ORPHA:261529
Developmental And Epileptic Encephalopathy 1	Microcephaly, Plagiocephaly	OMIM:308350
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Craniosynostosis, Turricephaly	ORPHA:2145
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Cranial asymmetry	ORPHA:137634
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Plagiocephaly	OMIM:618731
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Galloway-Mowat Syndrome 4	Plagiocephaly, Hypermelanotic macule, Primary microcephaly	OMIM:617730
6Q25 Microdeletion Syndrome	Microcephaly, Plagiocephaly	ORPHA:251056
Xq28 (MECP2) duplication	Microcephaly, Brachycephaly	DECIPHER:45
Camptodactyly Syndrome, Guadalajara Type 1	Microcephaly, Brachycephaly, Melanocytic nevus	ORPHA:1327
Cataract-Intellectual Disability-Hypogonadism Syndrome	Microcephaly, Brachycephaly	ORPHA:1387
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Frontal bossing, Turricephaly	ORPHA:93262
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Brachycephaly, Secondary microcephaly	OMIM:179613
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Carpenter Syndrome 2	Narrow palate, Situs inversus totalis, High, narrow palate, Transposition of the great arteries, ...	OMIM:614976
8Q12 Microduplication Syndrome	Brachycephaly	ORPHA:228399
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing, Mitral regurgitation	OMIM:615539
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Craniosynostosis, Turricephaly	ORPHA:171839
Cornelia De Lange Syndrome 5	Microcephaly, Brachycephaly	OMIM:300882
Grant Syndrome	Brachycephaly, Frontal bossing	ORPHA:2097
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing	OMIM:264180
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:616789
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Brachycephaly	OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Laurence-Moon Syndrome	Brachycephaly	ORPHA:2377
2Q32Q33 Microdeletion Syndrome	Microcephaly, Brachycephaly	ORPHA:251019
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Skull asymmetry	OMIM:601853
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Chopra-Amiel-Gordon Syndrome	Microcephaly, Brachycephaly	OMIM:619504
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Abnormality of skin pigmentation	OMIM:612379
Holoprosencephaly-Craniosynostosis Syndrome	Microcephaly, Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:2163
Linear Nevus Sebaceus Syndrome	Irregular hyperpigmentation, Plagiocephaly, Prominent occiput, Biparietal narrowing, Frontal boss...	ORPHA:2612
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Microcephaly, Plagiocephaly	OMIM:618089
Fetal Trimethadione Syndrome	Microcephaly, Brachycephaly	ORPHA:1913
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Coffin-Siris Syndrome 6	Frontal bossing, Plagiocephaly	OMIM:617808
Monosomy 18P	Microcephaly, Hypertension, Brachycephaly	ORPHA:1598
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly	OMIM:618821
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, Brachycephaly	ORPHA:228390
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Truncus arteriosus, Pulmonic stenosis, Hypoplasti...	OMIM:601186
Noonan Syndrome 13	Plagiocephaly, Multiple lentigines, Cafe-au-lait spot, Microcephaly, Mitral regurgitation	OMIM:619087
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Brachycephaly	ORPHA:85290
Craniodigital-Intellectual Disability Syndrome	Brachycephaly	ORPHA:1514
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	OMIM:613174
Ritscher-Schinzel Syndrome 1	Pulmonic stenosis, Brachycephaly, Aortic valve stenosis, Prominent occiput	OMIM:220210
2Q23.1 Microdeletion Syndrome	Microcephaly, Brachycephaly	ORPHA:228402
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Microcephaly, Brachycephaly	OMIM:618142
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:618430
19P13.12 Microdeletion Syndrome	Brachycephaly, Aortic regurgitation, Microcephaly, Arrhythmia, Craniosynostosis, Mitral regurgita...	ORPHA:254346
Houge-Janssens Syndrome 3	Microcephaly, Frontal bossing, Plagiocephaly	OMIM:618354
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Aortic valve stenosis, Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly	ORPHA:459061
Developmental And Epileptic Encephalopathy 110	Microcephaly, Posterior plagiocephaly	OMIM:620149
German Syndrome	Brachycephaly, Dolichocephaly	ORPHA:2077
Angelman Syndrome	Secondary microcephaly, Flat occiput, Hypopigmentation of the skin, Brachycephaly	OMIM:105830
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Arrhythmia	OMIM:600430
Inverted Duplicated Chromosome 15 Syndrome	Microcephaly, Brachycephaly	ORPHA:3306
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Primary microcephaly	OMIM:618828
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Anterior plagiocephaly, Frontal bossing, Brachycephaly	ORPHA:163649
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Biliary tract abn...	OMIM:137920
Intellectual Developmental Disorder, Autosomal Dominant 48	Microcephaly, Plagiocephaly	OMIM:617751
Peroxisome Biogenesis Disorder 12A (Zellweger)	Microcephaly, Cranial asymmetry, Scaphocephaly	OMIM:614886
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	ORPHA:420179
Poland Syndrome	Acute leukemia, Atrial septal defect, Abnormality of the liver, Dextrocardia	ORPHA:2911
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Even-Plus Syndrome	Brachycephaly	OMIM:616854
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Multiple lentigines, Hypertrophic cardiomyopathy, Pulmonic stenosis, Melanocytic n...	ORPHA:500
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Houge-Janssens Syndrome 2	Microcephaly, Plagiocephaly	OMIM:616362
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Plagiocephaly	ORPHA:500159
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Congenital Disorder Of Glycosylation, Type Il	Microcephaly, Frontal bossing, Brachycephaly	OMIM:608776
Intellectual Developmental Disorder, Autosomal Dominant 58	Microcephaly, Plagiocephaly, Few cafe-au-lait spots	OMIM:618106
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Microcephaly, Flat occiput, Brachycephaly	OMIM:617452
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Aortic valve stenosis, Frontal bossing, Facial hyperostosis, Flat occiput, Thicken...	ORPHA:2780
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly	ORPHA:369891
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Sagittal c...	OMIM:123500
Catel-Manzke Syndrome	Dextrocardia, High palate, Glossoptosis, Bifid uvula, Cleft palate, Overriding aorta, Ventricular...	OMIM:616145
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ...	OMIM:603116
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Brachycephaly	ORPHA:1784
Lig4 Syndrome	Microcephaly, Brachycephaly, Telangiectasia of the skin, Biparietal narrowing	ORPHA:99812
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Microcephaly, Frontal bossing, Plagiocephaly	ORPHA:371364
Bresek Syndrome	Microcephaly, Plagiocephaly	ORPHA:85284
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Microcephaly, Brachycephaly, Hypertrophic cardiomyopathy	OMIM:616897
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Microcephaly, Flat occiput, Brachycephaly	ORPHA:505237
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Brachycephaly	OMIM:263210
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Pde4D Haploinsufficiency Syndrome	Brachycephaly, Frontal bossing, Thickened calvaria, Hypotension	ORPHA:439822
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flat occiput, Plagiocephaly, Hypertrophic cardiomyopathy	OMIM:619383
Richieri-Costa/Guion-Almeida Syndrome	Microcephaly, Brachycephaly	OMIM:268850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly	OMIM:218000
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, High palate, Dextrocardia	ORPHA:536545
Carney Complex	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the rectum, D...	ORPHA:1359
Contractural Arachnodactyly, Congenital	Brachycephaly, Frontal bossing, Dolichocephaly, Mitral regurgitation, Scaphocephaly	OMIM:121050
Hallermann-Streiff Syndrome	Brachycephaly, Hypertension, Pulmonary arterial hypertension, Microcephaly, Frontal bossing, Pari...	OMIM:234100
Frontonasal Dysplasia 2	Brachycephaly, Parietal foramina, Microcephaly, Anterior plagiocephaly, Craniosynostosis, Calvari...	OMIM:613451
ERI1-related disease	Brachycephaly, Tricuspid regurgitation, Pulmonary arterial hypertension, Trigonocephaly, Frontal ...	OMIM:608739
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Microcephaly, Left unicoronal synostosis, Anterior plagiocephaly, Plagiocephaly	OMIM:614749
Lujan-Fryns Syndrome	Brachycephaly	ORPHA:776
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Plagiocephaly	OMIM:619293
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Antley-Bixler Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	ORPHA:83
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Microcephaly, Frontal bossing, Brachycephaly, Biparietal narrowing	ORPHA:1292
Kury-Isidor Syndrome	Brachycephaly, Frontal bossing	OMIM:619762
Acrofrontofacionasal Dysostosis 2	Microcephaly, Brachycephaly	OMIM:239710
Microphthalmia, Syndromic 2	Atrial septal defect, Dextrocardia, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral...	OMIM:300166
Smith-Magenis Syndrome	Brachycephaly	OMIM:182290
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Cooper-Jabs Syndrome	Brachycephaly, Frontal bossing	ORPHA:1488
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry, Hypopigmentation of the skin	OMIM:163200
Larsen-Like Syndrome	Brachycephaly, Frontal bossing	OMIM:608545
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Microcephaly, Frontal bossing, Plagiocephaly	OMIM:619720
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Wieacker-Wolff Syndrome, Female-Restricted	Microcephaly, Brachycephaly	OMIM:301041
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Frontal bossing	OMIM:219150
Kleefstra Syndrome Due To A Point Mutation	Microcephaly, Plagiocephaly, Brachycephaly	ORPHA:261652
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:617296
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Cafe-au-lait spot, Plagiocephaly, Microcephaly	OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 64	Microcephaly, Plagiocephaly	OMIM:619188
Al Kaissi Syndrome	Microcephaly, Brachycephaly	OMIM:617694
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Microcephaly, Frontal bossing, Intraventricular hemorrhage	OMIM:613603
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Plagiocephaly	OMIM:619833
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly	ORPHA:96190
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Frontal bossing, Telangiectasia	OMIM:612582
Williams-Beuren Region Duplication Syndrome	Brachycephaly	OMIM:609757
Developmental And Epileptic Encephalopathy 84	Microcephaly, Plagiocephaly	OMIM:618792
Smith-Magenis Syndrome	Microcephaly, Frontal bossing, Brachycephaly	ORPHA:819
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Aortic regurgitation, Aortic valve stenosis, Microcephaly, Flat occiput	ORPHA:96147
Lig4 Syndrome	Microcephaly, Brachycephaly, Telangiectasia	OMIM:606593
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly	ORPHA:2633
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Cafe-au-lait spot, Trigonocephaly, Pulmonic stenosis, Microcephaly	OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Microcephaly, Brachycephaly	OMIM:300260
Oculocerebrofacial Syndrome, Kaufman Type	Microcephaly, Flat occiput, Brachycephaly	ORPHA:2707
Trisomy 9P	Microcephaly, Brachycephaly	ORPHA:236
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Secondary microcephaly, Brachycephaly	OMIM:620073
Martsolf Syndrome 1	Brachycephaly, Congestive heart failure, Cardiac arrest, Cardiomyopathy, Microcephaly	OMIM:212720
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly	OMIM:619435
Acrodysostosis	Brachycephaly, Frontal bossing, Melanocytic nevus	ORPHA:950
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Microcephaly, Plagiocephaly	OMIM:616579
Beck-Fahrner Syndrome	Microcephaly, Brachycephaly	OMIM:618798
Carpenter Syndrome 1	Brachycephaly, Lambdoidal craniosynostosis, Pulmonic stenosis, Coronal craniosynostosis, Sagittal...	OMIM:201000
Warburg Micro Syndrome 3	Microcephaly, Brachycephaly, Secondary microcephaly	OMIM:614222
Osteogenesis Imperfecta, Type Xx	Microcephaly, Plagiocephaly, Brachycephaly	OMIM:618644
Limb Body Wall Complex	Ectopia cordis, Abnormal intestine morphology, Abnormal heart morphology, Cleft palate, Abnormali...	ORPHA:2369
Dihydropyrimidinase Deficiency	Microcephaly, Plagiocephaly	OMIM:222748
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Restrictive cardiomyopathy, Lambdoidal craniosynostosis	OMIM:615398
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microcephaly, Craniosynostosis, Plagiocephaly	ORPHA:457193
Warburg Micro Syndrome 4	Secondary microcephaly, Brachycephaly	OMIM:615663
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Microcephaly, Plagiocephaly, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly	OMIM:109120
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Plagiocephaly, Prominent occiput	OMIM:617360
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Microcephaly, Brachycephaly	ORPHA:562528
Restrictive Dermopathy	Transposition of the great arteries, Dextrocardia, Microcolon, Submucous cleft hard palate, Atria...	ORPHA:1662
Adenylosuccinase Deficiency	Microcephaly, Brachycephaly	OMIM:103050
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Abnormal parietal bone morphology, Plagiocephaly, Telangiectasia	ORPHA:247262
Congenital Disorder Of Glycosylation, Type Iit	Microcephaly, Brachycephaly	OMIM:618885
Marbach-Schaaf Neurodevelopmental Syndrome	Microcephaly, Plagiocephaly	OMIM:619680
19P13.13 Microdeletion Syndrome	Cafe-au-lait spot, Dolichocephaly, Brachycephaly	ORPHA:357001
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Microcephaly, Frontal bossing, Plagiocephaly, Secondary microcephaly	OMIM:617193
Intellectual Disability-Strabismus Syndrome	Microcephaly, Plagiocephaly	ORPHA:363528
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
Fg Syndrome Type 1	Craniosynostosis, Plagiocephaly, Pulmonary arterial hypertension, Prominent occiput	ORPHA:93932
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Microcephaly, Epistaxis, Telangiectasia	ORPHA:495818
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Craniosynostosis, Brachycephaly	ORPHA:1790
Stevenson-Carey Syndrome	Brachycephaly	OMIM:611961
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Coronal craniosynostosis, Frontal bossing, Lambdoidal craniosynostosis, Brachycephaly	OMIM:207410
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Secondary microcephaly, Plagiocephaly, Pulmonic stenosis, Frontal bossing, Primary...	OMIM:610759
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Distal Deletion 10Q	Microcephaly, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:96148
Alagille Syndrome	Brachycephaly, Frontal bossing, Hypertension, Telangiectasia of the skin	ORPHA:52
Intellectual Developmental Disorder, Autosomal Dominant 1	Microcephaly, Frontal bossing, Brachycephaly, Secondary microcephaly	OMIM:156200
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Microcephaly, Brachycephaly, Skull asymmetry	OMIM:614701
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Brachycephaly	ORPHA:435638
9P13 Microdeletion Syndrome	Cafe-au-lait spot, Brachycephaly	ORPHA:324313
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Brachycephaly	OMIM:619244
Chromosome 2P16.1-P15 Deletion Syndrome	Microcephaly, Brachycephaly	OMIM:612513
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly	ORPHA:404440
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Trisomy 20P	Brachycephaly, Frontal bossing, Dolichocephaly, Plagiocephaly	ORPHA:261318
Chromosome 17P13.1 Deletion Syndrome	Microcephaly, Plagiocephaly, Turricephaly, Brachycephaly	OMIM:613776
20Q11.2 Microduplication Syndrome	Microcephaly, Trigonocephaly, Brachycephaly	ORPHA:363659
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Hypertension, Brachycephaly	ORPHA:371428
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly	ORPHA:364028
Warburg Micro Syndrome 2	Microcephaly, Brachycephaly, Secondary microcephaly	OMIM:614225
2P15P16.1 Microdeletion Syndrome	Microcephaly, Mitral regurgitation, Aortic regurgitation, Brachycephaly	ORPHA:261349
Intellectual Developmental Disorder, Autosomal Dominant 53	Microcephaly, Posterior plagiocephaly, Brachycephaly	OMIM:617798
48,Xxxy Syndrome	Brachycephaly, Pulmonary embolism	ORPHA:96263
Pfeiffer Syndrome Type 1	Bicoronal synostosis, Brachycephaly	ORPHA:93258
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Microcephaly, Plagiocephaly, Brachycephaly	ORPHA:500055
Momo Syndrome	Brachycephaly, Frontal bossing	OMIM:157980
49,Xxxxy Syndrome	Brachycephaly, Pulmonary embolism	ORPHA:96264
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Dolichocephaly, Plagiocephaly	ORPHA:457279
Frontofacionasal Dysplasia	Brachycephaly	ORPHA:1791
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Flat occiput, Plagiocephaly, Primary microcephaly	ORPHA:300570
Apert Syndrome	Cloverleaf skull, Acrobrachycephaly, Hypertension, Brachyturricephaly, Frontal bossing	ORPHA:87
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing	OMIM:200610
Diets-Jongmans Syndrome	Ventricular septal defect, Heterotaxy, Duodenal atresia	OMIM:618846
Anauxetic Dysplasia 3	Plagiocephaly	OMIM:618853
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly	OMIM:619995
Kleefstra Syndrome 1	Microcephaly, Brachycephaly	OMIM:610253
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Parietal foramina, Coronal craniosynostosis, Frontal bossing	ORPHA:85199
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly	ORPHA:2063
Marshall Syndrome	Brachycephaly, Frontal bossing, Thickened calvaria	ORPHA:560
White-Sutton Syndrome	Microcephaly, Brachycephaly, Vitiligo	ORPHA:468678
Apert Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Acrobrachycephaly, Brachyturricephaly, Coronal cranio...	OMIM:101200
Kleefstra Syndrome	Microcephaly, Brachycephaly, Arrhythmia	ORPHA:261494
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Brachycephaly	ORPHA:2095
Thoracoabdominal Syndrome	Ectopia cordis, Cleft palate, Transposition of the great arteries	OMIM:313850
Dysostosis, Stanescu Type	Microcephaly, Brachycephaly	ORPHA:1798
Weill-Marchesani Syndrome 1	Brachycephaly, Broad skull, Pulmonic stenosis, Aortic valve stenosis, Mitral regurgitation	OMIM:277600
Craniosynostosis And Dental Anomalies	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Trigonocephaly, Frontal bossing, Corona...	OMIM:614188
Cree Mental Retardation Syndrome	Brachycephaly	OMIM:606851
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:2215
White-Sutton Syndrome	Microcephaly, Brachycephaly	OMIM:616364
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Dolichocephaly, Plagiocephaly, Decreased heart rate variability	OMIM:619005
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Calvarial hyperostosis, Melanocytic nevus	OMIM:101800
Momo Syndrome	Brachycephaly, Frontal bossing	ORPHA:2563
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Brachycephaly	OMIM:156610
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Secondary microcephaly, Plagiocephaly, Primary microcephaly	ORPHA:496641
Alkuraya-Kucinskas Syndrome	Plagiocephaly	OMIM:617822
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Microcephaly, Progressive microcephaly, Plagiocephaly	OMIM:300749
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Dolichocephaly, Mitral regurgitation, Tricuspid regurgitation	ORPHA:1101
Hoxha-Aliu Syndrome	Brachycephaly	OMIM:620662
Den Hoed-De Boer-Voisin Syndrome	Microcephaly, Brachycephaly, Secondary microcephaly	OMIM:619229
Hamamy Syndrome	Brachycephaly, Craniosynostosis, Mitral regurgitation, Prolonged QRS complex	OMIM:611174
Raine Syndrome	Microcephaly, Plagiocephaly, Brachycephaly, Brachyturricephaly	OMIM:259775
Congenital Disorder Of Glycosylation, Type Iia	Microcephaly, Brachycephaly	OMIM:212066
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
Carey-Fineman-Ziter Syndrome 1	Microcephaly, Plagiocephaly, Pulmonary arterial hypertension	OMIM:254940
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly	OMIM:619859
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Frontal bossing	OMIM:257850
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Secondary microcephaly, Brachycephaly	ORPHA:456312
Saethre-Chotzen Syndrome	Brachycephaly, Craniosynostosis, Plagiocephaly	ORPHA:794
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microcephaly, Frontal bossing, Brachycephaly	ORPHA:1236
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Frontal bossing, Hypermelanotic macule	OMIM:259600
Baller-Gerold Syndrome	Brachycephaly, Frontal bossing, Brachyturricephaly	ORPHA:1225
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly	OMIM:620224
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly	OMIM:614800
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Duane Retraction Syndrome	Irregular hyperpigmentation, Plagiocephaly, Hypopigmented skin patches, Microcephaly	ORPHA:233
7Q31 Microdeletion Syndrome	Plagiocephaly	ORPHA:251061
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly	OMIM:239300
Fucosidosis	Brachycephaly	ORPHA:349
7Q11.23 Microduplication Syndrome	Brachycephaly, Cafe-au-lait spot, Aortic valve stenosis, Dolichocephaly, Craniosynostosis	ORPHA:96121
Mosaic Variegated Aneuploidy Syndrome 1	Pulmonic stenosis, Brachycephaly, Microcephaly	OMIM:257300
Constricting Bands, Congenital	Ectopia cordis, Cleft palate	OMIM:217100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Craniosynostosis, Frontal bossing	OMIM:245600
Gorlin Syndrome	Brachycephaly, Frontal bossing, Melanocytic nevus	ORPHA:377
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Aortic regurgitation, Craniosynostosis, Thickened calvaria, ...	ORPHA:309282
Weill-Marchesani Syndrome 2	Brachycephaly, Congestive heart failure, Broad skull, Pulmonic stenosis, Aortic valve stenosis, M...	OMIM:608328
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly	ORPHA:2916
Cleidocranial Dysplasia	Brachycephaly, Frontal bossing	ORPHA:1452
Loeys-Dietz Syndrome 5	Brachycephaly, Dolichocephaly, Mitral regurgitation	OMIM:615582
Hallermann-Streiff Syndrome	Microcephaly, Congestive heart failure, Frontal bossing, Brachycephaly	ORPHA:2108
Au-Kline Syndrome	Plagiocephaly, Hypertension, Dolichocephaly, Craniosynostosis, Sagittal craniosynostosis	OMIM:616580
Acromelic Frontonasal Dysplasia	Brachycephaly	ORPHA:1827
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Trichohepatoneurodevelopmental Syndrome	Microcephaly, Plagiocephaly, Brachycephaly	OMIM:618268
Joubert Syndrome 1	Microcephaly, Plagiocephaly	OMIM:213300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Craniosynostosis, Plagiocephaly	ORPHA:453499
Partial Androgen Insensitivity Syndrome	Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia	ORPHA:90797
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly	OMIM:156400
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Microcephaly, Brachycephaly	ORPHA:521445
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Frontal bossing, Brachycephaly, Plagiocephaly	OMIM:619512
Cerebrooculonasal Syndrome	Brachycephaly, Craniosynostosis, Frontal bossing, Proboscis	OMIM:605627
Chromosome 14Q11-Q22 Deletion Syndrome	Microcephaly, Plagiocephaly	OMIM:613457
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly	OMIM:615656
Holoprosencephaly 7	Cranial asymmetry, Microcephaly, Frontal bossing, Parietal bossing, Flat occiput	OMIM:610828
Turnpenny-Fry Syndrome	Brachycephaly, Plagiocephaly, Aortic regurgitation, Microcephaly, Frontal bossing, Melanocytic nevus	OMIM:618371
Aymé-Gripp Syndrome	Brachycephaly, Pericarditis, Plagiocephaly, Craniosynostosis	ORPHA:1272
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Congestive heart failure, Plagiocephaly, Aortic regurgitation, Hypopigmentation of the skin, Micr...	OMIM:619475
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Thickened calvaria	OMIM:309583
Adnp Syndrome	Microcephaly, Trigonocephaly, Brachycephaly, Plagiocephaly	ORPHA:404448
Arthrogryposis And Ectodermal Dysplasia	Microcephaly, Brachycephaly	OMIM:601701
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Microcephaly, Plagiocephaly, Brachycephaly	OMIM:301072
Distal Deletion 3P	Microcephaly, Brachycephaly	ORPHA:1620
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Craniosynostosis, Restrictive cardiomyopathy	ORPHA:369837
Aicardi Syndrome	Microcephaly, Abnormality of skin pigmentation, Plagiocephaly	ORPHA:50
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Frontal bossing	OMIM:618188
Cerebrofaciothoracic Dysplasia	Brachycephaly	ORPHA:1394
De Barsy Syndrome	Brachycephaly, Progressive microcephaly	ORPHA:2962
Fibrochondrogenesis	Plagiocephaly	ORPHA:2021
Kaufman Oculocerebrofacial Syndrome	Microcephaly, Brachycephaly	OMIM:244450
Craniofrontonasal Syndrome	Coronal craniosynostosis, Frontal bossing, Brachycephaly	OMIM:304110
Arboleda-Tham Syndrome	Plagiocephaly, Pulmonic stenosis, Frontal bossing, Microcephaly, Craniosynostosis, Primary microc...	OMIM:616268
Cartilage-Hair Hypoplasia	Brachycephaly, Heart block, Cardiomyopathy	ORPHA:175
Alg9-Cdg	Brachycephaly, Progressive microcephaly, Frontal bossing, Tricuspid regurgitation	ORPHA:79328
Cranioectodermal Dysplasia 2	Plagiocephaly, Cloverleaf skull, Hypertension, Frontal bossing, Dolichocephaly, Craniosynostosis	OMIM:613610
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly	OMIM:300968
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly	ORPHA:2673
Frank-Ter Haar Syndrome	Cafe-au-lait spot, Flat occiput, Brachycephaly	OMIM:249420
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Craniosynostosis, Frontal bossing, Plagiocephaly	ORPHA:536467
Cartilage-Hair Hypoplasia	Brachycephaly	OMIM:250250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microcephaly, Craniosynostosis, Brachycephaly	OMIM:213980
Opitz-Kaveggia Syndrome	Frontal bossing, Plagiocephaly	OMIM:305450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Brachycephaly, Turricephaly, Hypertension, Frontal bossing, Craniosynostosis	ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing	OMIM:616078
Aromatase Deficiency	Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism	ORPHA:91
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Secondary microcephaly, Progressive microcephaly, Brachycephaly	OMIM:616263
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Frontal bossing	OMIM:616728
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Microcephaly, Frontal bossing, Dolichocephaly, Few cafe-a...	OMIM:620330
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynos...	OMIM:101400
Hunter-Macdonald Syndrome	Brachycephaly, Hypertension, Mitral regurgitation, Aortic regurgitation	OMIM:611962
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Brachycephaly	ORPHA:2211
Common Variable Immunodeficiency	Brachycephaly, Vasculitis	ORPHA:1572
Monosomy 9P	Microcephaly, Trigonocephaly, Calvarial skull defect, Brachycephaly	ORPHA:261112
Degcags Syndrome	Plagiocephaly, Hypopigmentation of the skin, Pulmonary arterial hypertension, Pulmonic stenosis, ...	OMIM:619488
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Gapo Syndrome	Frontal bossing, Plagiocephaly	OMIM:230740
Atelosteogenesis Type Ii	Plagiocephaly	ORPHA:56304
Alg12-Cdg	Progressive microcephaly, Posterior plagiocephaly	ORPHA:79324
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Microcephaly, Plagiocephaly	OMIM:620083
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Cornelia De Lange Syndrome 1	Microcephaly, Brachycephaly	OMIM:122470
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Patchy hypo- and hyperpigmentation	ORPHA:3063
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Pulmonic stenosis, Brachycephaly	OMIM:618223
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly	OMIM:601353
Osteopetrosis With Renal Tubular Acidosis	Brachycephaly, Plagiocephaly, Thickened calvaria, Pulmonary arterial hypertension	ORPHA:2785
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Posterior plagiocephaly, Microcephaly, Frontal bossing, Dolichocephaly, Epistaxis	OMIM:619841
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly	OMIM:618548
Floating-Harbor Syndrome	Mesocardia, Gastroesophageal reflux, Tetralogy of Fallot, Celiac disease, Atrial septal defect	ORPHA:2044
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cafe-au-lait spot, Brachycephaly, Microcephaly	OMIM:619950
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:280000
Down Syndrome	Brachycephaly	ORPHA:870
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Decreased calvarial ossification, Frontal bossing, Brachycephaly	OMIM:617925
Kbg Syndrome	Microcephaly, Brachycephaly	OMIM:148050
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Baller-Gerold Syndrome	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Brachyturricephal...	OMIM:218600
Floating-Harbor Syndrome	Celiac disease, Atrial septal defect, Mesocardia	OMIM:136140
Congenital Myopathy 13	Microcephaly, Brachycephaly	OMIM:255995
Fontaine Progeroid Syndrome	Brachycephaly, Turricephaly, Tricuspid regurgitation, Pulmonary arterial hypertension, Microcepha...	OMIM:612289
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Anterior plagiocephaly	OMIM:619718
Ayme-Gripp Syndrome	Craniofacial asymmetry, Pericarditis, Brachycephaly	OMIM:601088
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Microcephaly, Congestive heart failure, Plagiocephaly, Pulmonary arterial hypertension	ORPHA:444077
Congenital Disorder Of Deglycosylation 1	Microcephaly, Brachycephaly	OMIM:615273
Branchioskeletogenital Syndrome	Microcephaly, Craniosynostosis, Thickened calvaria, Brachycephaly	ORPHA:1299
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Tricuspid regurgitation	OMIM:263520
Distal Deletion 12Q	Microcephaly, Frontal bossing, Brachycephaly	ORPHA:96149
Aicardi-Goutières Syndrome	Microcephaly, Plagiocephaly, Raynaud phenomenon, Hypertrophic cardiomyopathy	ORPHA:51
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Microcephaly, Trigonocephaly, Brachycephaly, Craniosynostosis	OMIM:309590
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Frontal bossing	ORPHA:1974
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Roberts Syndrome	Microcephaly, Craniosynostosis, Brachycephaly	ORPHA:3103
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Turricephaly, Aortic regurgitation, Prominent occiput, Microcephaly, Frontal bossing	OMIM:612474
Mandibuloacral Dysplasia Progeroid Syndrome	Brachycephaly, Frontal bossing, Mitral regurgitation, Tricuspid regurgitation	OMIM:619127
Treacher-Collins Syndrome	Brachycephaly, Frontal bossing	ORPHA:861
Acrofrontofacionasal Dysostosis 1	Brachycephaly	OMIM:201180
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Mitral regurgitation, Aortic regurgitation, Tricuspid regurgitation	OMIM:601776
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Frontal bossing, T...	ORPHA:466791
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Plagiocephaly	ORPHA:2538
Helsmoortel-Van Der Aa Syndrome	Posterior plagiocephaly, Mitral regurgitation, Heart murmur	OMIM:615873
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Plagiocephaly, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Microcephaly, Fronta...	ORPHA:96334
Doors Syndrome	Brachycephaly, Prominent occiput, Microcephaly, Frontal bossing, Anterior plagiocephaly, Sagittal...	ORPHA:79500
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619480
1P36 Deletion Syndrome	Brachycephaly, Microcephaly, Frontal bossing, Dilated cardiomyopathy, Telangiectasia	ORPHA:1606
Osteogenesis Imperfecta	Brachycephaly, Cerebral hemorrhage, Aortic regurgitation, Prominent occiput	ORPHA:666
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension	ORPHA:2072
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Microcephaly, Plagiocephaly, Pulmonary arterial hypertension	OMIM:613355
Faundes-Banka Syndrome	Frontal bossing, Primary microcephaly, Plagiocephaly	OMIM:619376
6Q Terminal Deletion Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:75857
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly	OMIM:274000
14Q22Q23 Microdeletion Syndrome	Brachycephaly	ORPHA:264200
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly	OMIM:227330
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Microcephaly, Frontal bossing, Brachycephaly	OMIM:617157
Chime Syndrome	Brachycephaly	ORPHA:3474
Frontofacionasal Dysplasia	Brachycephaly, Hypoplasia of the frontal bone	OMIM:229400
Acromelic Frontonasal Dysostosis	Brachycephaly, Parietal foramina	OMIM:603671
Wiedemann-Rautenstrauch Syndrome	Pulmonic stenosis, Frontal bossing, Thickened calvaria, Cranial asymmetry	ORPHA:3455
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly	ORPHA:457284
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Brachycephaly, Ischemic stroke, Portal hypertension, Frontal bossing, Dolichocephaly, Few cafe-au...	OMIM:619503
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Arrhythmia	ORPHA:1519
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Microcephaly, Plagiocephaly, Sagittal craniosynostosis	OMIM:620455
Aspartylglucosaminuria	Microcephaly, Thickened calvaria, Mitral regurgitation, Brachycephaly	OMIM:208400
Coffin-Siris Syndrome 1	Microcephaly, Frontal bossing, Brachycephaly, Plagiocephaly	OMIM:135900
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Microcephaly, Brachycephaly	OMIM:610442
Chromosome 1P36 Deletion Syndrome, Distal	Brachycephaly, Noncompaction cardiomyopathy, Microcephaly, Frontal bossing, Dilated cardiomyopathy	OMIM:607872
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Cloverleaf skull, Hypertension, Microcephaly, Frontal bossing, Craniosynostosis	OMIM:201750
Trichorhinophalangeal Syndrome, Type Ii	Microcephaly, Plagiocephaly, Skull asymmetry, Myocardial infarction	OMIM:150230
Peters Plus Syndrome	Pulmonic stenosis, Frontal bossing, Brachycephaly, Microcephaly	ORPHA:709
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Parietal bossing, Frontal bossing	OMIM:264090
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Brachycephaly, Depigmentation/hyperpigmentation of skin, Cardiomyopathy	ORPHA:480880
Down Syndrome	Brachycephaly	OMIM:190685
Viss Syndrome	Brachycephaly, Epidural hemorrhage, Pulmonary arterial hypertension, Microcephaly, Frontal bossin...	OMIM:619472
Liver Disease, Severe Congenital	Systolic heart murmur, Plagiocephaly, Abnormal left ventricular function	OMIM:619991
Elsahy-Waters Syndrome	Brachycephaly	OMIM:211380
Microphthalmia, Syndromic 6	Microcephaly, Plagiocephaly, Lambdoidal craniosynostosis, Brachycephaly	OMIM:607932
X-Linked Intellectual Disability, Armfield Type	Brachycephaly	ORPHA:85276
Cornelia De Lange Syndrome	Microcephaly, Brachycephaly	ORPHA:199
Roberts-Sc Phocomelia Syndrome	Cafe-au-lait spot, Craniosynostosis, Brachycephaly, Microcephaly	OMIM:268300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly	ORPHA:3042
Primrose Syndrome	Brachycephaly	OMIM:259050

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 Enkur

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Enkur.

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

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MGI Allele	Allele Type	Produced
Enkur^{tm34117(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Enkur^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Enkur^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Enkur MGI:1918483

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E18.5

MicroCT E18.5

Human diseases caused by Enkur mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data