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Gene: Ehd1 MGI:1341878

Gene Summary

Name:

EH-domain containing 1

Synonyms:

RME-1, Past1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

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 eyelid aperture	Ehd1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.83×10^-06
increased circulating cholesterol level	Ehd1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.20×10^-05
increased circulating LDL cholesterol level	Ehd1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.13×10^-05
increased circulating chloride level	Ehd1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	5.44×10^-13
increased circulating alanine transaminase level	Ehd1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.99×10^-05
increased circulating HDL cholesterol level	Ehd1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.20×10^-05

Download data as: TSV XLS

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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	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	50% (1 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	50% (1 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lymph node	N/A	heterozygote	100% (2 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	100% (2 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	100% (2 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
blood vessel	0.0%
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
oesophagus	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyer's patch	0.57% (1 of 176)
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle tissue	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images

Legacy Phenotype Associated Images

Ehd1^{tm1a(EUCOMM)Wtsi}
body, HET, Male, WTSI

Ehd1^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Ehd1^{tm1a(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

Ehd1^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Ehd1^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

View all 148 images

Ehd1^{tm1a(EUCOMM)Wtsi}
eye, eyelids fail to open, HOM, Male, WTSI

Human diseases caused by Ehd1 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 Ehd1 (0 diseases)
Human diseases predicted to be associated with Ehd1 (838 diseases)

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

The table below shows human diseases predicted to be associated to Ehd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi...	ORPHA:1646
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert...	OMIM:617960
Isochromosomy Yp	Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ...	ORPHA:98797
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi...	OMIM:619528
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism	OMIM:618110
Isochromosomy Yq	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici...	ORPHA:98798
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
Spermatogenic Failure 63	Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem...	ORPHA:79506
Spermatogenic Failure 12	Abnormal male germ cell morphology, Infertility, Azoospermia	OMIM:615413
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
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
Young Syndrome	Decreased fertility, Obstructive azoospermia	ORPHA:3471
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:144300
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa...	ORPHA:399805
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia...	ORPHA:529970
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Spermatogenic Failure 8	Oligospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In...	OMIM:144250
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, High palate, Hypogonadism, Epicanthus, Microcornea, Cataract, Narrow mouth, Microph...	ORPHA:2528
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
Spermatogenic Failure 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Spermatogenic Failure 51	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:619177
Spermatogenic Failure 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou...	ORPHA:261529
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper...	OMIM:616829
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Hyperchloremia, Hyperkalemia	OMIM:614492
Spermatogenic Failure 24	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile...	OMIM:617959
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Microphthalmia, Syndromic 12	Retrognathia, Anophthalmia, Bicornuate uterus, Micrognathia, Microphthalmia, Cryptorchidism	OMIM:615524
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
Spermatogenic Failure 2	Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te...	OMIM:108420
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul...	OMIM:616950
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Mandibular prognathia, Synophrys, Micrognathia, Cac...	ORPHA:2471
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity	OMIM:615703
Young Syndrome	Azoospermia	OMIM:279000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles...	OMIM:620058
48,Xyyy Syndrome	Primary gonadal insufficiency, Enamel hypoplasia, High palate, Long philtrum, Epicanthus, Thick l...	ORPHA:99329
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Male infertility, Obstructive azoospermia	OMIM:301060
48,Xxyy Syndrome	Broad jaw, Epicanthus, Decreased testicular size, Type II diabetes mellitus, Infertility, Blephar...	ORPHA:10
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A...	ORPHA:488191
Oculocerebrocutaneous Syndrome	Anophthalmia, Eyelid coloboma, Microphthalmia, Cryptorchidism, Cleft palate, Orbital cyst	OMIM:164180
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality of the hyp...	ORPHA:2183
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,...	ORPHA:52901
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Decreased tes...	ORPHA:280679
Cockayne Syndrome Type 2	Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Anophthalmia, Delayed eruption of prima...	ORPHA:90322
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c...	OMIM:618433
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Analbuminemia	Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen...	OMIM:616000
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis	OMIM:241100
Cerebrooculonasal Syndrome	Sparse eyebrow, High palate, Anophthalmia, Long philtrum, Epicanthus, Widely spaced teeth, Microd...	ORPHA:66625
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga...	OMIM:619868
Hypercholesterolemia, Familial, 3	Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:603776
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Spermatogenic Failure 14	Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Microphthalmia, Syndromic 8	Short palpebral fissure, Cleft upper lip, Mandibular prognathia, Blepharophimosis, Microcornea, M...	OMIM:601349
Spermatogenic Failure 28	Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated...	OMIM:618086
49,Xyyyy Syndrome	Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre...	ORPHA:99330
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Decreased tes...	OMIM:300845
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ...	OMIM:228300
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Narrow palate, Epicanthus, Blepharophimosis, Long...	OMIM:617883
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cataract, Microphthalmia, Cryptorchidism, Obesity	ORPHA:363741
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Synophrys, Microdontia, Sparse eyelashes, Thick eyebrow, Blepharophimosis, Ptosis, Cr...	OMIM:619293
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypothyroidism, Dental malocclusion, Wide mouth, Epicanthus, Bifid scrotum, Blepharophimosis, Mic...	ORPHA:85321
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Cofs Syndrome	Hypogonadism, Death in infancy, Micrognathia, Everted lower lip vermilion, Cataract, Microphthalmia	ORPHA:1466
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Microphthalmia, Cryptorchidism, Orofacial cleft	ORPHA:3434
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea	OMIM:602390
Trisomy 13	Patent ductus arteriosus, Anophthalmia, Long philtrum, Abnormality of the dentition, Aplasia/Hypo...	ORPHA:3378
Normosmic Congenital Hypogonadotropic Hypogonadism	Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Eunuchoid habitus, Delayed...	ORPHA:432
Biemond Syndrome Type 2	Hypogonadism, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Pierpont Syndrome	Decreased body weight, Unilateral narrow palpebral fissure, Prominent median palatal raphe, Bleph...	OMIM:602342
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t...	OMIM:614837
Premature Ovarian Failure 10	Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas...	OMIM:612885
Pierpont Syndrome	Widely spaced teeth, Small for gestational age, Narrow palpebral fissure, Microcornea, Everted lo...	ORPHA:487825
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul...	OMIM:308700
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Cataract, Microphthalmia, Cryptorchidism, Obesity	OMIM:601794
Microphthalmia With Brain And Digit Anomalies	High palate, Anophthalmia, Microcornea, Iris coloboma, Cataract, Microphthalmia, Cryptorchidism, ...	ORPHA:139471
Beaulieu-Boycott-Innes Syndrome	Short palpebral fissure, Patent ductus arteriosus, Dental malocclusion, Premature ovarian insuffi...	OMIM:613680
Adrenal Hypoplasia, Congenital	Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir...	OMIM:300200
Warburg Micro Syndrome 1	External genital hypoplasia, Micrognathia, Developmental cataract, Microcornea, Failure to thrive...	OMIM:600118
Familial Male-Limited Precocious Puberty	Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility	ORPHA:3000
Maternal Uniparental Disomy Of Chromosome X	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici...	ORPHA:261519
Meckel Syndrome, Type 8	Ambiguous genitalia, Cleft upper lip, Anophthalmia, Microphthalmia, Cleft palate	OMIM:613885
48,Xxxy Syndrome	Mandibular prognathia, Hypogonadism, Epicanthus, Decreased testicular size, Type II diabetes mell...	ORPHA:96263
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Delayed eruption of teeth, Micrognathia, Sparse eyelashes, Persistent pupillary membr...	OMIM:257850
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Micrognathia, Malar prominence, Long eyelashes, Microcornea, Cataract, Microphthalmia, Hypogonado...	ORPHA:48431
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus	ORPHA:2578
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero...	OMIM:616828
Spermatogenic Failure, X-Linked, 4	Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Reduced sperm motility, Cataract, Abnormal sperm head mor...	ORPHA:320391
Microphthalmia With Limb Anomalies	Short palpebral fissure, Downslanted palpebral fissures, Cleft upper lip, Retrognathia, High pala...	OMIM:206920
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr...	OMIM:207750
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614897
Androgen Insensitivity, Partial	Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro...	OMIM:312300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Hypogonadism, External genital hypoplasia, Bifid uvula, Hypoplasia of penis, Submuc...	ORPHA:2250
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia	ORPHA:48
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Ankyloblepharon, Microphthalmia, Anophthalmia	ORPHA:85275
Zimmermann-Laband Syndrome	Downslanted palpebral fissures, Abnormal external genitalia, High palate, Wide mouth, Micrognathi...	ORPHA:3473
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Infertility, Azoospermia, Chronic sinusitis, Absent outer dynein arms	OMIM:618300
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary, Microcornea, Cataract, Microph...	OMIM:610125
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cryptophthalmos, Anophthalmia, Long philtrum, Epicanthus, Long eyelashes, Mic...	OMIM:615877
47,Xyy Syndrome	Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ...	ORPHA:8
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Bicornuate uterus, Micrognathia, Azoospermia, Cleft palate, Hypoplasia of the ut...	OMIM:601076
49,Xxxxy Syndrome	Mandibular prognathia, Hypogonadism, Epicanthus, Decreased testicular size, Type II diabetes mell...	ORPHA:96264
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Hydrolethalus	Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Gingival cleft, Micrognathia, Bif...	ORPHA:2189
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Cockayne Syndrome Type 1	Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Anophthalmia, Delayed eruption of prima...	ORPHA:90321
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:612526
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Cataract, Microphthalmia, Cryptorchidism, Neonatal death	OMIM:613730
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Orofacial cleft	OMIM:611638
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Ptosis, Cataract	ORPHA:1875
Bosma Arhinia Microphthalmia Syndrome	Primary amenorrhea, Paranasal sinus hypoplasia, Dental malocclusion, High palate, Synophrys, Hypo...	OMIM:603457
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Small for gestational age, Micrognathia, Developmental cataract, Cataract, Microph...	OMIM:610756
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Iris coloboma, Anophthalmia	OMIM:616428
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Upslanted palpebral fissure, High palate, Hypogonadism, Epicanthus, Ble...	ORPHA:251066
Proboscis Lateralis	Abnormal paranasal sinus morphology, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma...	ORPHA:141099
Ring Chromosome 21 Syndrome	Diabetes insipidus, Infertility, Azoospermia, Amenorrhea	ORPHA:1445
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Anophthalmia, Hypoplasia of penis, Hypospadias, Iris coloboma, Micropht...	ORPHA:77298
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Seckel Syndrome 1	Downslanted palpebral fissures, Abnormally large globe, Dental malocclusion, Enamel hypoplasia, H...	OMIM:210600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Widely spaced teeth, Cataract, Upslanted palpebral fissure, Malar flattening	OMIM:616108
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
Martin-Probst Syndrome	Hypothyroidism, Dental malocclusion, Wide mouth, Bifid scrotum, Epicanthus, Micrognathia, Thick l...	OMIM:300519
Rubinstein-Taybi Syndrome 2	Retrognathia, Downslanted palpebral fissures, Talon cusp, Dental malocclusion, Narrow palate, Hig...	OMIM:613684
Progeria-Short Stature-Pigmented Nevi Syndrome	Dental malocclusion, Decreased serum estradiol, Selective tooth agenesis, Premature ovarian insuf...	ORPHA:2959
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Synophrys, Long eyelashes, Short philtrum, Everted lower lip vermilion, Abnormal sp...	ORPHA:411986
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia	OMIM:616267
Wagr Syndrome	Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Micrognathia, Everted lower lip vermilion, P...	ORPHA:893
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Thick upper lip vermilion, Dental malocclusion, Retrognathia, Epicanthu...	ORPHA:363444
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,...	ORPHA:90791
2Q24 Microdeletion Syndrome	Downslanted palpebral fissures, Small for gestational age, Short philtrum, Abnormal oral frenulum...	ORPHA:1617
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia	ORPHA:181393
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Trisomy 1Q	Patent ductus arteriosus, Downslanted palpebral fissures, Ambiguous genitalia, Anophthalmia, Micr...	ORPHA:261344
Short Syndrome	Dental malocclusion, Rieger anomaly, Megalocornea, Delayed eruption of teeth, Small for gestation...	OMIM:269880
Harrod Syndrome	Dental malocclusion, High palate, Failure to thrive, Hypospadias, Narrow mouth, Cataract, Cryptor...	ORPHA:2115
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia	OMIM:214700
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism, Cataract, Elevated circulating follicle stimulating...	OMIM:240950
Noonan Syndrome 4	Downslanted palpebral fissures, Sparse eyebrow, Dental malocclusion, Bilateral ptosis, Epicanthus...	OMIM:610733
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Delayed eruption of teeth, Blepharophimosis, Tongue atrophy...	OMIM:141300
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Hemochromatosis, Type 1	Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame...	OMIM:235200
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microcornea, Microphthalmia, Corneal opacity, Median cleft palate	ORPHA:2432
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Posterior Y-sutural cataract, Mulbe...	OMIM:302350
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Mandibular prognathia, High palate, Epicanthus, Blepharophimosis, Synophrys,...	ORPHA:1327
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Tooth agenesis, Microphthalmia, Hypogonadotropic hypogonadism, Cleft palate	ORPHA:1135
Craniolenticulosutural Dysplasia	Punctate cataract, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y...	OMIM:607812
Cerebrooculofacioskeletal Syndrome 1	Long philtrum, Delayed eruption of teeth, Small for gestational age, Blepharophimosis, Micrognath...	OMIM:214150
Matthew-Wood Syndrome	Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnormality of the uterus, Fa...	ORPHA:2470
Cri-Du-Chat Syndrome	Downslanted palpebral fissures, High palate, Epicanthus, Small for gestational age, Thick lower l...	OMIM:123450
Xk Aprosencephaly Syndrome	Narrow mouth, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Walker-Warburg Syndrome	Anophthalmia, Bifid uvula, Hypoplasia of penis, Submucous cleft hard palate, Microcornea, Iris co...	ORPHA:899
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno...	ORPHA:477781
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Retrognathia, Cleft upper lip, Long philtrum, Wide mouth, Epicanthus, L...	OMIM:243310
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, High palate, Epicanthus	OMIM:618292
Ring Chromosome 22 Syndrome	Epicanthus, Azoospermia, Protruding tongue, Thick eyebrow, Thick vermilion border	ORPHA:1446
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-...	OMIM:101800
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Epicanthus, Mic...	ORPHA:1772
Kennedy Disease	Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus	ORPHA:481
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Conical tooth, Hypogonadism, Microphthalmia, Cryptorchidism, Upslanted palpebral fissure, Small s...	ORPHA:228390
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Micrognathia, Short philtrum, Downturned corners of mouth, Cataract, Microph...	ORPHA:93267
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, High palate, Premature ovarian insufficiency, Blepharophimosis, Microcorn...	OMIM:110100
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cerebrooculonasal Syndrome	Sparse eyebrow, Narrow palate, Anophthalmia, High palate, Epicanthus, Long philtrum, Optic nerve ...	OMIM:605627
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Narrow palate, Widely spaced teeth, Type II diabetes ...	ORPHA:61
Anemia, Hypochromic Microcytic, With Iron Overload 2	Azoospermia, Hypogonadism	OMIM:615234
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Downslanted palpebral fissures, Dental malocclusion, Micrognathia, Diastema, Juvenile cataract, U...	ORPHA:436245
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Microcornea, Orbital cyst	OMIM:251505
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Sparse eyebrow, Dental malocclusion, Lo...	OMIM:616737
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, High palate, Deep philtrum, External genital hypoplasia, Micrognathia, Failu...	ORPHA:329178
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Epicanthus	OMIM:619692
Anencephaly 2	Short palpebral fissure, Anophthalmia, Cleft maxillary alveolar ridge, Median cleft lip, Median c...	OMIM:619452
Hallermann-Streiff Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Dental malocclusion, Narrow palate, High palate, ...	OMIM:234100
Potocki-Lupski Syndrome	Hypothyroidism, Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, High ...	OMIM:610883
Robinow Syndrome, Autosomal Dominant 2	Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Long philtrum, Wide mouth, Micr...	OMIM:616331
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P...	ORPHA:2232
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H...	OMIM:246700
8Q21.11 Microdeletion Syndrome	Downslanted palpebral fissures, High palate, Epicanthus, Blepharophimosis, Micrognathia, Iris hyp...	ORPHA:284160
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Megalocornea, Anophthalmia, Long philtrum, Hypoplasia of the maxilla, Abno...	ORPHA:1101
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr...	OMIM:605814
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Epicanthus, Bilateral cryptorchidism, Downturned corners of mouth, Pete...	OMIM:618652
Hamamy Syndrome	Neck pterygia, Sparse eyebrow, Dental malocclusion, Enamel hypoplasia, Sparse lateral eyebrow, Hi...	OMIM:611174
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Downslanted palpebral fissures, Dental malocclusion, Abnormality of upper lip vermillion, Dacryoc...	ORPHA:251028
Trichothiodystrophy 3, Photosensitive	Natal tooth, Bilateral cryptorchidism, Eclabion, Developmental cataract, Failure to thrive, Catar...	OMIM:616395
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev...	ORPHA:64753
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Seckel Syndrome 2	Small for gestational age, Micrognathia, Microdontia, Hypospadias, Microglossia, Microphthalmia	OMIM:606744
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ...	ORPHA:361
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Deafness-Hypogonadism Syndrome	Abnormal spermatogenesis, Epicanthus, Delayed puberty, Heterochromia iridis, Hypergonadotropic hy...	ORPHA:90646
Elsahy-Waters Syndrome	Delayed eruption of teeth, Synophrys, Bifid uvula, Phthisis bulbi, Thick eyebrow, Agenesis of inc...	OMIM:211380
Van Maldergem Syndrome 2	Short palpebral fissure, Irregular dentition, Dental malocclusion, High palate, Bifid scrotum, Ep...	OMIM:615546
Microphthalmia, Syndromic 2	Hypothyroidism, Decreased body weight, Delayed eruption of teeth, Adrenal insufficiency, Bifid uv...	OMIM:300166
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Mulibrey Nanism	Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Hypodontia, Absent frontal s...	OMIM:253250
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	High palate, Ptosis, Mandibular prognathia, Dental malocclusion	OMIM:608931
Momo Syndrome	Thick upper lip vermilion, Downslanted palpebral fissures, Dental malocclusion, High palate, Long...	ORPHA:2563
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Unilateral narrow palpebral fissure, Micro...	OMIM:618727
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Anterior pituitary hypoplasia, Anophthalmia, Optic nerve aplasia, Optic...	OMIM:206900
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Iris coloboma, Microphthalmia, Cryptorchidism,...	ORPHA:85284
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Barber-Say Syndrome	Delayed eruption of teeth, Micrognathia, Hypoplastic labia majora, Sparse eyelashes, Gingival ove...	OMIM:209885
Congenital Analbuminemia	Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Warburg Micro Syndrome 3	Narrow palate, Decreased testicular size, Blepharophimosis, Micrognathia, Hypoplastic labia minor...	OMIM:614222
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula...	OMIM:400045
Myopathy, Centronuclear, X-Linked	Dental malocclusion, High palate, Cryptorchidism	OMIM:310400
Rothmund-Thomson Syndrome, Type 2	Epicanthus, Delayed eruption of teeth, Micrognathia, Microdontia, Sparse eyelashes, Supernumerary...	OMIM:268400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia	OMIM:613090
Schwartz-Jampel Syndrome	Blepharospasm, Decreased body weight, Micrognathia, Cachexia, Ectopia lentis, Everted lower lip v...	ORPHA:800
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent...	OMIM:238600
14Q22Q23 Microdeletion Syndrome	Diabetes insipidus, Downslanted palpebral fissures, Anterior pituitary hypoplasia, Anophthalmia, ...	ORPHA:264200
Multiple Benign Circumferential Skin Creases On Limbs	Abnormality of the scrotum, Long philtrum, Epicanthus, Micrognathia, Microcornea, Hypospadias, Mi...	ORPHA:2505
Anophthalmia Plus Syndrome	Non-midline cleft lip, Anophthalmia, Blepharophimosis, Iris coloboma, Eyelid coloboma, Cleft pala...	ORPHA:1104
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Craniosynostosis 3	Ptosis, Dental malocclusion	OMIM:615314
Acrootoocular Syndrome	Downslanted palpebral fissures, Dental malocclusion, Decreased response to growth hormone stimula...	ORPHA:2980
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Anterior pituitary hypoplasia, Decreased response to gr...	OMIM:610829
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Epicanthus, Absence of labia majora, Micrognathia, Intercrural pterygium, Cleft pa...	OMIM:265000
Moebius Syndrome	Congenital fibrosis of extraocular muscles, High palate, Epicanthus, Decreased testicular size, M...	OMIM:157900
Robinow Syndrome, Autosomal Dominant 3	Patent ductus arteriosus, Dental malocclusion, Bifid tongue, Long philtrum, Epicanthus, Micrognat...	OMIM:616894
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, S-shaped palpebral fissures, Dental malocclusion, Long philtrum, Macrodontia of p...	ORPHA:444072
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Micrognathia, Hypoplasia of penis, Microphthalmia	ORPHA:2547
Mccune-Albright Syndrome	Decreased fertility, Irregular menstruation, Macroorchidism, Precocious puberty, Increased circul...	ORPHA:562
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Dental malocclusion, High palate, Long ...	OMIM:102500
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:615812
Microphthalmia, Syndromic 16	Microphthalmia, Ankyloblepharon, Anophthalmia, Sclerocornea	OMIM:611038
Warburg Micro Syndrome 4	Long philtrum, Decreased testicular size, Developmental cataract, Microcornea, Ptosis, Narrow mou...	OMIM:615663
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Blepharophimosis, Microdontia, Hypoplasia of teeth, Ptosis, Microphthalmia, ...	ORPHA:2728
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas...	OMIM:278850
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Sparse eyebrow, Enamel hypoplasia, High palate, Ankyloglossia, Unilateral microph...	OMIM:618874
Cerebellofaciodental Syndrome	Sparse eyebrow, Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodon...	OMIM:616202
Joubert Syndrome 37	High palate, Decreased testicular size, Ptosis, Microphthalmia, Cryptorchidism, Obesity, Micropenis	OMIM:619185
Holoprosencephaly	Epicanthus, Anterior hypopituitarism, Synophrys, Median cleft lip, Iris coloboma, Tooth agenesis,...	ORPHA:2162
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Abnormal palate morphology, Hypospadias, Cataract, Cryptorchidism, Aplasia/H...	ORPHA:1381
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol...	ORPHA:567548
Cataract 9, Multiple Types	Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract	OMIM:604219
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Widely spaced teeth, Micrognathia, Microdontia, Long palpebral fissure, A...	OMIM:619694
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Microphthalmia With Linear Skin Defects Syndrome	Abnormal nasolacrimal system morphology, Ambiguous genitalia, Mandibular aplasia, Abnormal testis...	ORPHA:2556
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse...	ORPHA:754
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Blepharophimosis, Broad eyebrow, Micrognathia, Ptosis, Hypospadias, Iris coloboma, Pe...	ORPHA:494344
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Meckel Syndrome	Pancreatic cysts, Urethral atresia, Ambiguous genitalia, Aplasia/Hypoplasia of the tongue, Anopht...	ORPHA:564
H Syndrome	Cleft upper lip, Abnormal eyebrow morphology, Corneal arcus, Hypogonadism, Decreased testicular s...	ORPHA:168569
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, High palate, Epicanthus, Micrognathia, S...	OMIM:614230
Van Maldergem Syndrome 1	Short palpebral fissure, Irregular dentition, Dental malocclusion, High palate, Epicanthus, Bleph...	OMIM:601390
Intellectual Developmental Disorder, Autosomal Recessive 39	Synophrys, Dental malocclusion	OMIM:615541
Trichothiodystrophy 4, Nonphotosensitive	Decreased fertility, Retrognathia, Epicanthus, Keratoconjunctivitis sicca, Microcornea, Microphth...	OMIM:234050
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Anophthalmia, Bicornuate uterus, Blepharophimosis, Micrognathia, Bilate...	OMIM:601186
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Downslanted palpebral fissures, Long philtrum, Bilateral ptosis, Deep philtrum, Blepharophimosis,...	ORPHA:404440
Treacher-Collins Syndrome	Blepharospasm, Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Iris coloboma, Tooth a...	ORPHA:861
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Galactokinase Deficiency	Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia	ORPHA:79237
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Synophrys, Microdontia, Micrognathia, Bifid uvula, Smooth philtrum, Short palpebral f...	OMIM:612474
Cohen Syndrome	Micrognathia, Iris coloboma, Tooth agenesis, Abnormal eyelash morphology, Thick eyebrow, Gingival...	ORPHA:193
Microphthalmia, Syndromic 13	Widely-spaced incisors, Microcornea, Ptosis, Iris coloboma, Microphthalmia	OMIM:300915
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Cataract, Microphthalmia	OMIM:278780
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus...	ORPHA:300298
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Dental malocclusion, Epicanthus, Thin upper lip vermilion, Upslanted pa...	OMIM:619149
Fanconi Anemia	Abnormal testis morphology, Epicanthus, Aplasia/Hypoplasia of the iris, Micrognathia, Cleft palat...	ORPHA:84
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Narrow mouth, ...	OMIM:602483
Au-Kline Syndrome	Retrognathia, Downslanted palpebral fissures, Lagophthalmos, Dental malocclusion, Sparse lateral ...	OMIM:616580
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Small for gestational age, Infertility, Decre...	ORPHA:330015
Vacterl With Hydrocephalus	Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Micrognathia, Microcornea, Microp...	ORPHA:3412
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Cockayne Syndrome B	Dental malocclusion, Mandibular prognathia, Delayed eruption of primary teeth, Small for gestatio...	OMIM:133540
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H...	ORPHA:247598
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y-sutural cataract, ...	ORPHA:50814
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele...	OMIM:619662
Momo Syndrome	Downslanted palpebral fissures, Dental malocclusion, High palate, Long philtrum, Delayed eruption...	OMIM:157980
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Recurr...	OMIM:617091
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Ohdo Syndrome, X-Linked	Downslanted palpebral fissures, Sparse eyebrow, Decreased body weight, High palate, Long philtrum...	OMIM:300895
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	OMIM:277460
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, High palate, Hypothalamic gonad...	OMIM:308750
Ritscher-Schinzel Syndrome 3	Downslanted palpebral fissures, Death in infancy, Micrognathia, Thin upper lip vermilion, Microph...	OMIM:619135
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Retrognathia, Horizontal eyebrow, Dental malocclusion, High palate, Sho...	ORPHA:96121
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Fraser Syndrome	Ambiguous genitalia, Cryptophthalmos, Bifid tongue, Malformed lacrimal duct, Female pseudohermaph...	ORPHA:2052
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Ptosis, Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Bilatera...	ORPHA:1473
Oculocerebrorenal Syndrome Of Lowe	Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, Bu...	ORPHA:534
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Microphthalmia, Cleft palate	OMIM:616570
Muenke Syndrome	Downslanted palpebral fissures, Dental malocclusion, High palate, Ptosis, Malar flattening	OMIM:602849
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Thin upper lip vermilion, Widely-spaced maxillary centr...	OMIM:619719
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Retrognathia, Downslanted palpebral fissures, Dental malocclusion, Phakodonesis, High palate, Bif...	OMIM:601552
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Martsolf Syndrome 1	Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Micrognathia, Short philt...	OMIM:212720
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:209902
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Micrognathia, Cataract, Microphthalmia, Microcornea	OMIM:616171
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent sinusitis	OMIM:300991
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat...	ORPHA:199306
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Downslanted palpebral fissures, High palate, Epicanthus, Short philtrum, Microcorne...	OMIM:616449
Chromosome 1Q41-Q42 Deletion Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Cleft upper lip, High palate, Deep philtrum, Wide...	OMIM:612530
Fraser Syndrome 1	Cryptophthalmos, Malformed lacrimal duct, Cleft palate, Anophthalmia, Bicornuate uterus, Bilatera...	OMIM:219000
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Hypoplastic labia majora...	ORPHA:97360
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Downslanted palpebral fissures, Dental malocclusion, High palate, Delayed eruption of teeth, Hypo...	OMIM:612350
Kapur-Toriello Syndrome	Patent ductus arteriosus, Hypoplastic labia majora, Hypoplasia of penis, Failure to thrive, Iris ...	ORPHA:2328
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral ptosis, Unilateral microphthalmos	OMIM:619318
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodonti...	ORPHA:2712
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, Abnormality of the dentition	ORPHA:1858
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Iris coloboma, Cataract, Microphthalmia, Cleft palate	OMIM:120433
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Horizontal eyebrow, Mandibular prognathia, High palate, Wide mouth, Epicanthus, Widely spaced tee...	ORPHA:369891
Chromosome 13Q33-Q34 Deletion Syndrome	Patent ductus arteriosus, Irregular dentition, High palate, Bifid scrotum, Small for gestational ...	OMIM:619148
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Downslanted palpebral fissures, Mandibular prognathia, Long philtrum, Deep philtrum, Epicanthus, ...	OMIM:152950
Microphthalmia, Lenz Type	Delayed eruption of teeth, Ankyloblepharon, Abnormality of dental morphology, Microcornea, Hyposp...	ORPHA:568
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Developmental cataract, Microphthalmia, Ging...	ORPHA:335
Charge Syndrome	Epicanthus, Anterior hypopituitarism, Delayed eruption of teeth, Abnormal soft palate morphology,...	ORPHA:138
Functioning Gonadotropic Adenoma	Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating...	ORPHA:91348
Kabuki Syndrome 2	Dental malocclusion, Decreased body weight, Sparse lateral eyebrow, Lower lip pit, Epicanthus, Hi...	OMIM:300867
Faciodigitogenital Syndrome, Autosomal Recessive	Downslanted palpebral fissures, Dental malocclusion, Narrow palate, High palate, Wide mouth, Shaw...	OMIM:227330
Citrullinemia Type Ii	Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H...	ORPHA:247585
Bloom Syndrome	Decreased fertility in females, Agenesis of maxillary lateral incisor, Small for gestational age,...	OMIM:210900
3Q29 Microdeletion Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, High palate, Short philtrum, Everted lo...	ORPHA:65286
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Sparse eyebrow, Dental malocclusion, Lo...	ORPHA:487796
Microphthalmia, Isolated 8	Short palpebral fissure, Anophthalmia, Entropion, Optic nerve hypoplasia, True anophthalmia, Micr...	OMIM:615113
Baraitser-Winter Syndrome 2	Retrognathia, Long philtrum, Wide mouth, Long palpebral fissure, Ptosis, Thin upper lip vermilion...	OMIM:614583
Shprintzen-Goldberg Craniosynostosis Syndrome	Downslanted palpebral fissures, Dental malocclusion, Narrow palate, High palate, Micrognathia, Hy...	OMIM:182212
Foveal Hypoplasia 2	Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Marden-Walker Syndrome	High palate, Long philtrum, Epicanthus, Blepharophimosis, Micrognathia, Ptosis, Hypospadias, Narr...	OMIM:248700
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms, Recurrent sinusitis, Chronic sinusitis	OMIM:612444
Microphthalmia With Limb Anomalies	Cleft upper lip, Abnormal eyebrow morphology, High palate, Long philtrum, Hypoplasia of the prema...	ORPHA:1106
Cockayne Syndrome A	Irregular menstruation, Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Delayed er...	OMIM:216400
Rubinstein-Taybi Syndrome 1	Premature thelarche, Epicanthus, Broad eyebrow, Micrognathia, Smooth philtrum, Cleft palate, Thic...	OMIM:180849
Micro Syndrome	High palate, Micrognathia, Hypoplastic labia minora, Hypoplasia of penis, Short philtrum, Clitora...	ORPHA:2510
Microphthalmia, Syndromic 6	Female hypogonadism, Hypothyroidism, Retrognathia, High palate, Anophthalmia, Orbital cyst, Anter...	OMIM:607932
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Sclerosteosis 1	Irregular menstruation, Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cra...	OMIM:269500
Frontofacionasal Dysplasia	Non-midline cleft lip, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Lim...	ORPHA:1791
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Corneal opacity, Microphthalmia	ORPHA:2788
Trichothiodystrophy 1, Photosensitive	Retrognathia, Hypogonadism, Death in infancy, Small for gestational age, Keratoconjunctivitis sic...	OMIM:601675
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Recurrent sinusitis, Male infertility, Absent outer dynein arms, Immoti...	OMIM:614874
Complete Androgen Insensitivity Syndrome	Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim...	ORPHA:99429
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,...	ORPHA:137888
Jacobsen Syndrome	Epicanthus, Macular hypoplasia, Annular pancreas, Micrognathia, Labial hypoplasia, Clitoral hypop...	OMIM:147791
Pycnodysostosis	Dental malocclusion, Obtuse angle of mandible, Enamel hypoplasia, Decreased response to growth ho...	ORPHA:763
Gracile Bone Dysplasia	Death in infancy, Ankyloglossia, Failure to thrive, Microphthalmia, Micropenis, Aniridia	OMIM:602361
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Anophthalmia	OMIM:248450
Bloom Syndrome	Retrognathia, Premature ovarian insufficiency, Small for gestational age, Micrognathia, Azoosperm...	ORPHA:125
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Microphthalmia, Cataract	OMIM:610092
Nasopalpebral Lipoma-Coloboma Syndrome	Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Absent lacrimal punctum, Hypoplasia...	OMIM:167730
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Micrognathia, Microcornea, Vaginal atresia, Iris coloboma, Narrow mouth, C...	ORPHA:3301
Solitary Median Maxillary Central Incisor	Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Prominent m...	OMIM:147250
Noonan Syndrome 1	Patent ductus arteriosus, Downslanted palpebral fissures, Dental malocclusion, High palate, Hypog...	OMIM:163950
Kapur-Toriello Syndrome	Patent ductus arteriosus, Cleft upper lip, Hypoplastic labia majora, Iris coloboma, Cataract, Mic...	OMIM:244300
Frontonasal Dysplasia 1	Hypoplastic frontal sinuses, Epicanthus, Median cleft lip, Hypoplasia of the maxilla, Ptosis, Cat...	OMIM:136760
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypothyroidism, Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Supernumerary nipple...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypothyroidism, Bifid tongue, Exaggerated median tongue furrow, Bifid uvula, Supernumerary nipple...	ORPHA:352665
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Warburg Micro Syndrome 2	Hypoplastic labia majora, Developmental cataract, Microcornea, Cataract, Microphthalmia, Cryptorc...	OMIM:614225
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Patent ductus arteriosus, Downslanted palpebral fissures, Retrognathia, De...	OMIM:602782
Classic Galactosemia	Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf...	ORPHA:79239
Dysbetalipoproteinemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	ORPHA:412
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Sitosterolemia 1	Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X...	OMIM:210250
Congenital Generalized Lipodystrophy	Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:528
Temtamy Syndrome	Downslanted palpebral fissures, Long philtrum, Lens luxation, Micrognathia, Ectopia lentis, Iris ...	OMIM:218340
Cataract 3, Multiple Types	Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe...	OMIM:613807
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Temtamy Syndrome	Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Iris coloboma, Microphthalmi...	ORPHA:1777
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Cleft upper lip, Shawl scrotum, Hypodontia, Bilateral cryptorchid...	OMIM:305400
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Sandestig-Stefanova Syndrome	Retrognathia, High palate, Epicanthus, Small for gestational age, Developmental cataract, Sparse ...	OMIM:618804
Myopathy, Myofibrillar, 8	High palate, Ptosis, Micrognathia, Dental malocclusion	OMIM:617258
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract	OMIM:600881
Wagro Syndrome	Downslanted palpebral fissures, Mandibular prognathia, Decreased testicular size, Micrognathia, D...	OMIM:612469
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Sparse eyebrow, Ambiguous genitalia, Lobulated tongue, Bifid tongue, Na...	OMIM:616300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Long philtrum, Epicanthus, Thin upper lip vermilion, Microphthalmia, Cryptorchidism, Cleft palate...	OMIM:618494
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Long philtrum, Micrognathia, Bifid uvula, ...	OMIM:241410
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border	OMIM:601957
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Sparse lateral eyebrow, Narrow palate, Long philtrum, Delayed eruption of te...	OMIM:190350
Cockayne Syndrome	Enamel hypoplasia, Dental malocclusion, Abnormal number of teeth, Delayed eruption of primary tee...	ORPHA:191
Nanophthalmos	Microphthalmia	ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Microphthalmia	OMIM:274270
Bartsocas-Papas Syndrome 2	Ankyloblepharon, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Mi...	OMIM:619339
Apert Syndrome	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, Narrow palate, Delaye...	OMIM:101200
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Dental malocclusion, High palate, Long philtrum, Epicanthus, Widely spa...	OMIM:606232
Dubowitz Syndrome	Short palpebral fissure, Megalocornea, Sparse lateral eyebrow, High palate, Epicanthus, Blepharop...	OMIM:223370
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le...	OMIM:601678
Carpenter Syndrome 2	Epicanthus, Supernumerary nipple, Narrow palate, Shawl scrotum, Cryptorchidism, Upslanted palpebr...	OMIM:614976
Intellectual Disability, Buenos-Aires Type	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, High palate, Blepharo...	ORPHA:3079
Myotonic Dystrophy 1	Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism	OMIM:160900
Cardiofaciocutaneous Syndrome 1	Downslanted palpebral fissures, Dental malocclusion, High palate, Deep philtrum, Epicanthus, Abse...	OMIM:115150
Lysosomal Acid Lipase Deficiency	Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy...	OMIM:278000
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligospermia, Cryptorchidism	OMIM:314300
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Frontonasal Dysplasia 2	Short palpebral fissure, Sparse eyebrow, Conical tooth, Widely spaced teeth, Blepharophimosis, Bi...	OMIM:613451
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia	OMIM:602522
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Downslanted palpebral fissures, High palate, Pierre-Robin sequence, Long philtrum, Synophrys, Eve...	OMIM:617877
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Synophrys,...	OMIM:616734
Gapo Syndrome	Sparse eyebrow, Mandibular prognathia, Long philtrum, Hypogonadism, Delayed eruption of teeth, Mi...	ORPHA:2067
Autosomal Dominant Cerebellar Ataxia	Tongue fasciculations, Ptosis, Azoospermia, Tongue atrophy	ORPHA:99
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Orofacial cleft	ORPHA:324416
Bartsocas-Papas Syndrome 1	Ambiguous genitalia, Micrognathia, Hypoplastic labia majora, Cleft palate, Corneal ulceration, Bi...	OMIM:263650
Three M Syndrome 2	Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Small for gestational...	OMIM:612921
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Downslanted palpebral fissures, Sparse eyebrow, Mandibular prognathia, Epicanthus, ...	ORPHA:464738
Congenital Myopathy 17	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, High palate, Long phi...	OMIM:618975
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Downslanted palpebral fissures, Sparse eyebrow, Deep philtrum, Epicanthus, Synophry...	OMIM:620098
Aniridia-Absent Patella Syndrome	Ptosis, Cataract, Aniridia, Cryptorchidism	ORPHA:1069
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Epicanthus, Ankyloglossia, Failure to thriv...	ORPHA:250989
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Microphthalmia	OMIM:615297
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia	OMIM:610023
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Lipomas of eyelids, Lacrimal punctal atresia, Hypoplasia of the maxilla, Bilatera...	ORPHA:2399
Monosomy 18P	Hypothyroidism, Epicanthus, Micrognathia, Hypodontia, Short philtrum, Ptosis, Downturned corners ...	ORPHA:1598
Hallermann-Streiff Syndrome	Hypothyroidism, Sparse eyebrow, Glossoptosis, Natal tooth, Micrognathia, Supernumerary tooth, Dev...	ORPHA:2108
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia, Hypogonadism	OMIM:610651
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Intermediate Osteopetrosis	Dental malocclusion, Abnormality of dental morphology, Osteosclerosis of the base of the skull, A...	ORPHA:210110
Bartter Syndrome Type 4	Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ...	ORPHA:89938
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence,...	ORPHA:364577
Hartsfield Syndrome	Downslanted palpebral fissures, Non-midline cleft lip, Ptosis, Microphthalmia, Cleft palate, Tele...	ORPHA:2117
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Microcornea, Cataract, Microphthalmia, Abnormality of...	ORPHA:627
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Microphthalmia, Cryptorchidism, Scleroco...	OMIM:613001
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Iris coloboma, Hypoplasia of the uterus, Microphthalmia, Ovotestis, Peters anomaly, ...	OMIM:309801
Fanconi Anemia, Complementation Group A	Small for gestational age, Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryp...	OMIM:227650
Microphthalmia, Isolated 6	Microphthalmia, Microcornea	OMIM:613517
Aromatase Deficiency	Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha...	ORPHA:91
Cat-Eye Syndrome	Downslanted palpebral fissures, Iris coloboma, Microphthalmia	ORPHA:195
Williams Syndrome	Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Epicanthus...	ORPHA:904
Myotonic Dystrophy 2	Hypogonadism, Type II diabetes mellitus, Posterior subcapsular cataract, Oligospermia, Elevated c...	OMIM:602668
Monosomy 9P	Downslanted palpebral fissures, Ambiguous genitalia, High palate, Long philtrum, Epicanthus, Blep...	ORPHA:261112
Coffin-Lowry Syndrome	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, Decreased body weight...	OMIM:303600
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Nanophthalmos 4	Microphthalmia	OMIM:615972
Charge Syndrome	Hypothyroidism, Gonadotropin deficiency, Micrognathia, Parathyroid hypoplasia, Iris coloboma, Hyp...	OMIM:214800
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Long philtrum, Deep philtrum, Epicanthus...	ORPHA:251014
Branchiooculofacial Syndrome	Upslanted palpebral fissure, Ectopic thymus tissue, Cleft upper lip, Anophthalmia, Lower lip pit,...	OMIM:113620
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:600251
Braddock-Carey Syndrome 2	Retrognathia, Downslanted palpebral fissures, Pierre-Robin sequence, Wide mouth, Microphthalmia, ...	OMIM:619981
Trisomy 18	Non-midline cleft lip, Narrow palate, Epicanthus, Blepharophimosis, Cachexia, Microretrognathia, ...	ORPHA:3380
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Short philtrum, Cataract,...	OMIM:614105
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Downslanted palpebral fissures, Microphthalmia, Smooth philtrum, Epicanthus	OMIM:602501
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le...	OMIM:241200
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy...	OMIM:615558
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Sutural cataract	OMIM:201470
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h...	ORPHA:91351
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Anophthalmia, Delayed eruption of teeth,...	OMIM:305600
Mosaic Trisomy 9	Patent ductus arteriosus, Abnormal fallopian tube morphology, High palate, Micrognathia, Hypoplas...	ORPHA:99776
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Ring Chromosome 10 Syndrome	Downslanted palpebral fissures, Long philtrum, Micrognathia, Cachexia, Microphthalmia, Thin vermi...	ORPHA:1438
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Perineal fistula, Failure to thrive, Microphthalmia, Rectovaginal fistula	ORPHA:2538
Cousin Syndrome	Short palpebral fissure, Ambiguous genitalia, female, Blepharophimosis, Micrognathia, Ambiguous g...	OMIM:260660
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Long philtrum, Epicanthus, Micrognathia, Long palpebral fissure, Downturned corners ...	ORPHA:163649
Pelvis-Shoulder Dysplasia	Short palpebral fissure, Ambiguous genitalia, Micrognathia, Microcornea, Bilateral microphthalmos...	ORPHA:2839
Oculotrichoanal Syndrome	Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruction	ORPHA:2717
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Long philtrum, Iris hypopigmentation, Cataract, Microphthalmia, Thin...	ORPHA:85194
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Ptosis, Cataract	OMIM:222300
Cataract 20, Multiple Types	Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract	OMIM:116100
Cataract 40	Sutural cataract, Nuclear cataract	OMIM:302200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Talon cusp, Narrow palate, Supernumerary tooth, Ptosis, Cryptorchidism, Carious tee...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Talon cusp, Narrow palate, Supernumerary tooth, Ptosis, Cryptorchidism, Carious tee...	ORPHA:353277
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ...	ORPHA:3464
Treacher Collins Syndrome 1	Downslanted palpebral fissures, Lacrimal duct stenosis, Cleft soft palate, Wide mouth, Abnormal p...	OMIM:154500
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Male infertility, Recurrent sinusitis	OMIM:614935
Mend Syndrome	High palate, Micrognathia, Asymmetry of the mouth, Failure to thrive, Cataract, Microphthalmia, C...	ORPHA:401973
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Testicular atrophy, Hypogonadism	OMIM:618165
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Type II diabetes mellitus, Micrognathia, Microdontia, Microphthalmia, Obesity	ORPHA:3191
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Horizontal eyebrow, Long philtrum, Deep philtrum, Epicanthus, Narrow palpebral fissure, Microretr...	OMIM:618571
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:370
Frank-Ter Haar Syndrome	Downslanted palpebral fissures, Abnormally large globe, Dental malocclusion, High palate, Megaloc...	OMIM:249420
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Anophthalmia, Long philtrum,...	ORPHA:2526
Fryns Syndrome	Non-midline cleft lip, High palate, Long philtrum, Wide mouth, Bicornuate uterus, Micrognathia, M...	ORPHA:2059
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia	OMIM:249310
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Lacrimal duct stenosis, Dental malocclusion, Conjunctivitis, Microretro...	OMIM:615560
Mosaic Trisomy 1	Short upper lip, Downslanted palpebral fissures, Penile hypospadias, Wide mouth, Thick lower lip ...	ORPHA:1692
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Patent ductus arteriosus, Dental malocclusion, Talon cusp, Narrow palate, Natal tooth, Hypodontia...	ORPHA:353281
Monosomy 9Q22.3	Downslanted palpebral fissures, Odontogenic keratocysts of the jaw, Long philtrum, Epicanthus, De...	ORPHA:77301
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Paranasal sinus hypoplasia, Dental malocclusion, Cleft upper lip, Pierr...	OMIM:300373
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell...	ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract, Macroglossia	OMIM:613155
Congenital Rubella Syndrome	Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Cataract, Mic...	ORPHA:290
Anterior Segment Dysgenesis 5	Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:604229
Renpenning Syndrome 1	Mandibular prognathia, Sparse lateral eyebrow, High palate, Epicanthus, Decreased testicular size...	OMIM:309500
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Larsen-Like Syndrome	Cleft palate, Malar flattening, Dental malocclusion	OMIM:608545
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Corneal opacity, Cataract, Death in childhood, Microphthalmia	OMIM:613153
Pallister-Hall Syndrome	Patent ductus arteriosus, Cleft upper lip, Precocious puberty, Decreased response to growth hormo...	OMIM:146510
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Hypogonadism, Abnormal testis morphology, Weight loss, Oligospermia, ...	ORPHA:85450
Holoprosencephaly-Postaxial Polydactyly Syndrome	Ambiguous genitalia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of penis, Thyroid hyp...	ORPHA:2166
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, High palate, Long philtrum, Epicanthus, Blepharophimosis, Micrognathia, ...	OMIM:156610
3Q29 Microduplication Syndrome	Downslanted palpebral fissures, High palate, Deep philtrum, Iris coloboma, Cataract, Microphthalm...	ORPHA:251038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Megalocornea, Micrognathia, Optic nerve hypoplasia, Buphthalmos, Cataract, Peter...	OMIM:236670
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Nestor-Guillermo Progeria Syndrome	Sparse eyebrow, Dental malocclusion, Micrognathia, Dental crowding, Microretrognathia, Failure to...	OMIM:614008
Frontometaphyseal Dysplasia 1	Downslanted palpebral fissures, Dental malocclusion, High palate, Selective tooth agenesis, Delay...	OMIM:305620
Fanconi Anemia, Complementation Group E	Small for gestational age, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:600901
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Downslanted palpebral fissures, High palate, Furrowed tongue, Epicanthu...	OMIM:616975
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Microphthalmia, Isolated, With Coloboma 9	Long philtrum, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis,...	OMIM:615145
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Fetal Alcohol Syndrome	Non-midline cleft lip, Epicanthus, Micrognathia, Microdontia, Ptosis, Thin upper lip vermilion, M...	ORPHA:1915
Fanconi Anemia, Complementation Group C	Epicanthus, Small for gestational age, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchi...	OMIM:227645
Pseudotrisomy 13 Syndrome	Cleft upper lip, Bicornuate uterus, Median cleft lip and palate, Microphthalmia, Cryptorchidism, ...	OMIM:264480
Turnpenny-Fry Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Dental malocclusion, Mandibular prognat...	OMIM:618371
Fryns Syndrome	Cleft upper lip, Long philtrum, Wide mouth, Bicornuate uterus, Bifid scrotum, Shawl scrotum, Blep...	OMIM:229850
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Downslanted palpebral fissures, Dental malocclusion, Micrognathia, Congenital bilateral ptosis, M...	OMIM:608257
3P25.3 Microdeletion Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Mandibular prognathia, Deep philtrum, E...	ORPHA:435638
Autosomal Dominant Keratitis	Macular hypoplasia, Limbal stem cell deficiency, Corneal neovascularization, Abnormal corneal lim...	ORPHA:2334
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Ptosis, Cataract, Hype...	OMIM:157640
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus	OMIM:617914
Frontonasal Dysplasia 3	Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Sparse eyelashes, Cleft palate	OMIM:613456
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Norrie Disease	Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Cachexia, Uterine ...	ORPHA:649
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Failure to thrive in infancy, Microphthalmia	OMIM:618805
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Cleft upper lip, Hypoplasia of the frontal bone, Blepharophimosis, A...	OMIM:229400
Frontorhiny	Diabetes insipidus, Bifid tongue, Hypoplastic frontal sinuses, Epicanthus, Hypopituitarism, Hypop...	ORPHA:391474
Cherubism	Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Lower eyelid retraction, Alveolar ...	OMIM:118400
Myhre Syndrome	Patent ductus arteriosus, Mandibular prognathia, Small for gestational age, Blepharophimosis, Nar...	OMIM:139210
Adams-Oliver Syndrome 2	Micrognathia, Narrow palpebral fissure, Microphthalmia, Developmental cataract	OMIM:614219
Congenital Toxoplasmosis	Failure to thrive in infancy, Microphthalmia	ORPHA:858
Chromosome 13Q14 Deletion Syndrome	High palate, Deep philtrum, Epicanthus, Micrognathia, Supernumerary nipple, Everted lower lip ver...	OMIM:613884
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion	OMIM:608940
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Decreased response to growth hormone stimulation test, Microphallus, Fa...	OMIM:603467
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Tetraamelia Syndrome 1	Urethral atresia, Cleft upper lip, Adrenal gland agenesis, Micrognathia, Absent external genitali...	OMIM:273395
Chromosome 17Q12 Duplication Syndrome	Downslanted palpebral fissures, Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, ...	OMIM:614526
Fontaine Progeroid Syndrome	Synophrys, Microdontia, Micrognathia, Hypoplastic labia majora, Everted lower lip vermilion, Smoo...	OMIM:612289
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Azoospermia, Ptosis, Delayed puberty, Corneal opacity, Cholelithiasis	ORPHA:2072
Ciliary Dyskinesia, Primary, 1	Chronic sinusitis, Absent frontal sinuses, Abnormal cornea morphology, Male infertility, Absent o...	OMIM:244400
Gaisböck Syndrome	Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr...	ORPHA:90041
Meckel Syndrome 14	Retrognathia, Ambiguous genitalia, Micrognathia, Microretrognathia, Aplasia of the uterus, Microp...	OMIM:619879
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Ste...	ORPHA:470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis	ORPHA:2239
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Microcornea, Cataract, Microphthalmia, Corneal dystrophy, Sclerocorne...	ORPHA:1806
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu...	ORPHA:786
Microphthalmia, Syndromic 1	Cleft upper lip, Tooth malposition, High palate, Anophthalmia, Agenesis of maxillary lateral inci...	OMIM:309800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis	OMIM:619607
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Cleft mandible, Exaggerated median tongue furrow, Synophrys, Micrognathia, Everted lower lip verm...	OMIM:608670
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Cerebrooculofacioskeletal Syndrome 4	Decreased body weight, Blepharophimosis, Micrognathia, Short philtrum, Bilateral microphthalmos, ...	OMIM:610758
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Micrognathia, Hamartoma of tongue, Microphthalmia, Cleft lip, Se...	OMIM:617925
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia, Hypercholesterolemia	OMIM:248370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Oculodentodigital Dysplasia	Short palpebral fissure, Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agenesi...	OMIM:164200
Mosaic Variegated Aneuploidy Syndrome	Hypothyroidism, Ambiguous genitalia, Downslanted palpebral fissures, Epicanthus, Micrognathia, Va...	ORPHA:1052
Joubert Syndrome 14	Downslanted palpebral fissures, Epicanthus, Short philtrum, Ptosis, Tented upper lip vermilion, M...	OMIM:614424
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Small for gestational age, Annular pancreas, Blepharophimosis, Micropht...	OMIM:227646
22Q11.2 Deletion Syndrome	Hypothyroidism, Hypoplasia of the thymus, Epicanthus, Micrognathia, Hypoparathyroidism, Cleft pal...	ORPHA:567
Trichothiodystrophy	Conjunctivitis, Enamel hypoplasia, Retrognathia, Hypoplasia of mandible relative to maxilla, Epic...	ORPHA:33364
Localized Scleroderma	Dental malocclusion, Abnormal upper lip morphology, Hashimoto thyroiditis, Short dental root, Abn...	ORPHA:90289
Deafness, X-Linked 7	Ptosis, Telecanthus, Thick eyebrow, Unilateral microphthalmos	OMIM:301018
Stromme Syndrome	Wide mouth, Micrognathia, Optic nerve hypoplasia, Microcornea, Iris coloboma, Peters anomaly, Cat...	OMIM:243605
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Oral leukoplakia	OMIM:613987
Oliver Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Short philtrum, Supernumerary nipple, Th...	ORPHA:2920
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Large f...	OMIM:612731
Anterior Segment Dysgenesis 2	Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Microphthalmi...	OMIM:610256
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Cataract, Microphthalmia	OMIM:612379
Isolated Optic Nerve Hypoplasia/Aplasia	Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp...	ORPHA:137902
Oculoauricular Syndrome	Posterior embryotoxon, Macular hypoplasia, Iris cyst, Posterior synechiae of the anterior chamber...	OMIM:612109
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Patent ductus arteriosus, Hypothyroidism, Blepharophimosis, Micrognathia, Microdontia, Cataract, ...	OMIM:620005
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc...	OMIM:217300
Joubert Syndrome 2	Failure to thrive, High palate, Microphthalmia, Hypoplastic male external genitalia	OMIM:608091
Meckel Syndrome, Type 1	Patent ductus arteriosus, Lobulated tongue, Cleft upper lip, Ambiguous genitalia, female, Wide mo...	OMIM:249000
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Decreased testicular size, Developmental cataract, Bilateral microphtha...	ORPHA:93325
Basal Cell Nevus Syndrome 1	Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of the jaw, Iris coloboma, Catara...	OMIM:109400
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Cleft upper lip, Absent eyelashes, Micrognathia, Thick lower lip vermil...	OMIM:256520
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Spondyloenchondrodysplasia	Hypothyroidism, Dental malocclusion, Decreased response to growth hormone stimulation test, Delay...	ORPHA:1855
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Yunis-Varon Syndrome	Micrognathia, Hypoplastic labia majora, Sparse eyelashes, Glossoptosis, Short upper lip, Prematur...	ORPHA:3472
Ataxia-Telangiectasia	Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, Failure to thrive, Delay...	OMIM:208900
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Macroglossia, Optic nerve hypoplasia, Cataract, Microphthalmia, Abnormality iris mo...	ORPHA:370959
Carney Complex	Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian...	ORPHA:1359
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Congenital Primary Aphakia	Sclerocornea, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Conge...	ORPHA:83461
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Decreased body weight, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Rodrigues Blindness	Sclerocornea, Microphthalmia, Microcornea, Tooth malposition	OMIM:268320
Williams-Beuren Syndrome	Hypothyroidism, Dental malocclusion, Medial flaring of the eyebrow, Early onset of sexual maturat...	OMIM:194050
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Mandibular prognathia, High palate, Thick lower lip vermilion, Synophrys, Unilate...	ORPHA:3063
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Agenesis of pineal gland, Microphthalmia	OMIM:614402
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Acrofrontofacionasal Dysostosis 1	S-shaped palpebral fissures, Cleft upper lip, Mandibular prognathia, Wide mouth, Long eyebrows, O...	OMIM:201180
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	High palate, Bifid scrotum, Epicanthus, Blepharophimosis, Micrognathia, Clitoral hypoplasia, Ante...	OMIM:609945
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia	ORPHA:275761
Roberts Syndrome	Cleft upper lip, High palate, Micrognathia, Long penis, Cataract, Microphthalmia, Cryptorchidism,...	ORPHA:3103
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Cleft upper lip, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Cleft palate,...	OMIM:607597
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Conjunctivitis, Cleft upper lip, Micrognathia, Ptosis, Ectropion, Micro...	OMIM:153400
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Failure to thrive, Microphthalmia, Lacrimal duct atresia, Thyr...	OMIM:300952
X-Linked Dominant Chondrodysplasia Punctata	Downslanted palpebral fissures, Sparse eyebrow, High palate, Microcornea, Cataract, Microphthalmi...	ORPHA:35173
Neuroocular Syndrome	Lagophthalmos, Synophrys, Torus palatinus, Lens coloboma, Iris coloboma, Peters anomaly, Blue iri...	OMIM:619539
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypoplastic sweat glands, Dental malocclusion, Long philtrum, Epicanthus, Micrognathia, Synophrys...	ORPHA:73223
Immunodeficiency 47	Decreased circulating copper concentration, Hypercholesterolemia	OMIM:300972
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia	ORPHA:90794
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia	OMIM:618914
17Q12 Microduplication Syndrome	Synophrys, Microphthalmia, Cleft palate	ORPHA:261272
Stevenson-Carey Syndrome	Downslanted palpebral fissures, Pierre-Robin sequence, Downturned corners of mouth, Narrow mouth,...	OMIM:611961
Premature Aging Syndrome, Penttinen Type	Retrognathia, Elevated circulating thyroid-stimulating hormone concentration, Delayed eruption of...	OMIM:601812
Mowat-Wilson Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Ectopia pupillae, Bifid scrotum, Delaye...	OMIM:235730
Xeroderma Pigmentosum, Complementation Group D	Conjunctivitis, Entropion, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract, Ectr...	OMIM:278730
Chondrodysplasia Punctata 2, X-Linked Dominant	Downslanted palpebral fissures, Sparse eyebrow, Failure to thrive, Cataract, Microphthalmia, Spar...	OMIM:302960
Myoclonic-Astatic Epilepsy	Long philtrum, Wide mouth, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, B...	ORPHA:1942
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Shallow orbits, Microphthalmia	OMIM:617306
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Death in infancy, Micrognathia, Short philtrum, Microphthalmia	ORPHA:163966
Fanconi Anemia, Complementation Group I	Hypothyroidism, Decreased body weight, Decreased response to growth hormone stimulation test, Opt...	OMIM:609053
Simpson-Golabi-Behmel Syndrome, Type 1	Patent ductus arteriosus, Downslanted palpebral fissures, Dental malocclusion, Mandibular prognat...	OMIM:312870
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Fanconi Anemia, Complementation Group L	Micrognathia, Aplasia of the uterus, Microphthalmia, Upslanted palpebral fissure, Cleft palate, M...	OMIM:614083
Townes-Brocks Syndrome	Patent ductus arteriosus, Hypothyroidism, Wide mouth, Bifid scrotum, Blepharophimosis, Rectoperin...	ORPHA:857
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Diphallia	Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi...	ORPHA:227
Aneurysm-Osteoarthritis Syndrome	Patent ductus arteriosus, Dental malocclusion, Retrognathia, High palate, Bifid uvula, Uterine pr...	ORPHA:284984
Histiocytoid Cardiomyopathy	Megalocornea, Failure to thrive, Polycystic ovaries, Microphthalmia, Corneal opacity, Congenital ...	ORPHA:137675
Monosomy 22Q13.3	Dental malocclusion, Epicanthus, Long eyelashes, Obesity, Dental crowding, Ptosis, Palpebral edem...	ORPHA:48652
Refsum Disease	Ptosis, Cataract, Microphthalmia	ORPHA:773
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Abnormality of the orbital region, Microphallus, Microretrognathia, Optic nerve hyp...	ORPHA:468631
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Unilateral cryptorchidism, Iris coloboma, Smooth philt...	OMIM:613406
Aicardi Syndrome	Cleft upper lip, Precocious puberty, Sparse lateral eyebrow, Prominence of the premaxilla, Short ...	ORPHA:50
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Buphthalmos, Cataract, Iris coloboma, Microphthalmia	OMIM:212550
Galloway-Mowat Syndrome 1	High palate, Wide mouth, Epicanthus, Small for gestational age, Hypoplasia of the iris, Micrognat...	OMIM:251300
Roberts-Sc Phocomelia Syndrome	Micrognathia, Long penis, Cleft palate, Bicornuate uterus, Stillbirth, Cryptorchidism, Malar flat...	OMIM:268300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Mandibular prognathia, Long philtrum, Micrognathia, Microretrognathia, O...	ORPHA:508498
Aicardi Syndrome	Cleft upper lip, Precocious puberty, Sparse lateral eyebrow, Prominence of the premaxilla, Catara...	OMIM:304050
Pallister-Hall Syndrome	Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Bifid uvula, ...	ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Death in infancy, Macroglossia, Buphthalmos, Cataract, Peters anomaly, Microphth...	OMIM:613150
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Micrognathia, Narrow mouth, Microphthalmia, Cleft palate, Neonatal death	OMIM:251230
Joubert Syndrome 21	Ptosis, Anophthalmia	OMIM:615636
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Blepharophimosis, Micrognathia, Microphthalmia, Upslanted palpebral fissure	ORPHA:1352
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Dental malocclusion, Delayed eruption of teeth, Small for gestational ...	ORPHA:666
Vitreoretinochoroidopathy	Pulverulent cataract, Microphthalmia, Developmental cataract, Microcornea	OMIM:193220
Degcags Syndrome	Ambiguous genitalia, Synophrys, Micrognathia, Abnormal eyelash morphology, Smooth philtrum, Abnor...	OMIM:619488
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Lip pit, Mandibular prognathia, Hypodontia, Supernumerary nipple, Abnormal palate morphology, Iri...	ORPHA:1236
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility, Chronic sinusitis	ORPHA:244
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Hyperuricemia, Hyperlipidemia, Xanthelasma, Hypertriglyceridemia	ORPHA:79259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia, Cataract	OMIM:615249
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,...	OMIM:221900
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Teebi-Shaltout Syndrome	Prominent palatine ridges, High, narrow palate, Wide mouth, Oligodontia, Ptosis, Narrow mouth, Mi...	OMIM:272950
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Iris coloboma, Posterior lenticonus, Microphthalmia, Microcornea	ORPHA:231736
Persistent Hyperplastic Primary Vitreous	Macular hypoplasia, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterio...	ORPHA:91495
Lowe Oculocerebrorenal Syndrome	Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci...	OMIM:309000
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Sparse eyebrow, Hypoplasia of the frontal bone, Epicanthus, Hypoplasia of the maxilla, Ptosis, Ca...	ORPHA:306542
Loeys-Dietz Syndrome 3	Patent ductus arteriosus, Dental malocclusion, Retrognathia, High palate, Bifid uvula, Cataract, ...	OMIM:613795
Phace Association	Patent ductus arteriosus, Horner syndrome, Developmental cataract, Optic nerve hypoplasia, Microp...	OMIM:606519
Norrie Disease	Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Microphthalm...	OMIM:310600
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Breast aplasia, Supernumerary ...	OMIM:308300
Focal Dermal Hypoplasia	Patent ductus arteriosus, Hypoplasia of the iris, Abnormality of dental morphology, Ectopia lenti...	ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Death in infancy, Optic nerve hypoplasia, Cataract, Peters anomaly, Microphthalmia,...	OMIM:614643
Galloway-Mowat Syndrome 3	Downslanted palpebral fissures, High palate, Epicanthus, Micrognathia, Failure to thrive, Narrow ...	OMIM:617729
Heart And Brain Malformation Syndrome	Thick lower lip vermilion, Everted lower lip vermilion, Microphthalmia, Cleft lip, High, narrow p...	OMIM:616920
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Meckel Syndrome, Type 5	Cleft palate, Cleft upper lip, Bile duct proliferation, Microphthalmia	OMIM:611561
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Epicanthus, Delayed eruption of teeth, Broad eyebrow, Bifid uvula, Iris coloboma, Septate vagina,...	ORPHA:261552
Incontinentia Pigmenti	Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Supernumerary nipple, Ca...	ORPHA:464
Holoprosencephaly 7	Hypoplasia of the premaxilla, Bilateral cleft lip, Synophrys, Panhypopituitarism, Median cleft li...	OMIM:610828
Coccidioidomycosis	Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the endocrine system...	ORPHA:228123
Mowat-Wilson Syndrome	Decreased body weight, Delayed eruption of teeth, Broad eyebrow, Bifid uvula, Everted lower lip v...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Broad eyebrow, Bifid uvula, Iris coloboma, Septate vagina, Cleft palat...	ORPHA:261537
Hydrolethalus Syndrome 1	Micrognathia, Median cleft lip, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, Microphthalm...	OMIM:236680
Adams-Oliver Syndrome	Failure to thrive, Cataract, Microphthalmia	ORPHA:974
Craniofacial Microsomia	Patent ductus arteriosus, Transverse facial cleft, Cleft upper lip, Anophthalmia, Wide mouth, Ble...	OMIM:164210
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Ankyloblepharon, Cryptophthalmos, Microphthalmia	OMIM:123570
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Microphthalmia	OMIM:169550
Cat Eye Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Epicanthus, Micrognathia, Iris coloboma...	OMIM:115470
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos	OMIM:615085
Phace Syndrome	Hypothyroidism, Abnormality of the orbital region, Lens coloboma, Optic nerve hypoplasia, Ptosis,...	ORPHA:42775
Steinert Myotonic Dystrophy	Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp...	ORPHA:273
Craniosynostosis And Dental Anomalies	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, Narrow palate, High p...	OMIM:614188
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Familial Exudative Vitreoretinopathy	Cataract, Microphthalmia	ORPHA:891
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Meckel Syndrome, Type 2	Cleft palate, Bile duct proliferation, Microphthalmia	OMIM:603194
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Duane-Radial Ray Syndrome	Palpebral fissure narrowing on adduction, Epicanthus, Optic disc hypoplasia, Iris coloboma, Catar...	OMIM:607323
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Epicanthus, Optic disc hypoplasia, Microcornea, Ptosis, Iris coloboma, C...	ORPHA:959
Meckel Syndrome, Type 4	Cleft palate, Bile duct proliferation, Microphthalmia	OMIM:611134
Papillorenal Syndrome	Lens luxation, Cataract, Microphthalmia, Orbital cyst	OMIM:120330
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Microphthalmia	OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Cataract, Microphthalmia	OMIM:616538
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia	ORPHA:391665
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	ORPHA:1553
Pierson Syndrome	Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the...	OMIM:609049
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly, Optic nerve aplasia, Microphthalmia	OMIM:120200
Cystinosis, Nephropathic	Weight loss, Corneal crystals, Male hypogonadism, Diabetes mellitus, Delayed puberty, Male infert...	OMIM:219800
Monosomy 13Q14	Epicanthus, Micrognathia, Ptosis, Iris coloboma, Cataract, Microphthalmia	ORPHA:1587
Mycophenolate Mofetil Embryopathy	Micrognathia, Iris coloboma, Eyelid coloboma, Microphthalmia, Orofacial cleft	ORPHA:268249
Oculo-Palato-Cerebral Syndrome	Leukocoria, Cataract, Microphthalmia, Cleft palate, High, narrow palate	ORPHA:2714
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion	OMIM:259730
Oculopalatocerebral Syndrome	Leukocoria, Cleft palate, Microphthalmia	OMIM:257910
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Curry-Jones Syndrome	Blepharophimosis, Iris coloboma, Lip pit, Microphthalmia	OMIM:601707
Adams-Oliver Syndrome 1	Cleft upper lip, Imperforate hymen, Supernumerary nipple, Microphthalmia, Cleft palate	OMIM:100300
Cockayne Syndrome Type 3	Enamel hypoplasia, Lentiglobus, Keratoconjunctivitis sicca, Microcornea, Cataract, Microphthalmia...	ORPHA:90324
Linear Nevus Sebaceus Syndrome	Telecanthus, Iris coloboma, Microphthalmia, Adenoma sebaceum	ORPHA:2612
Kenny-Caffey Syndrome, Type 2	Small for gestational age, Hypoparathyroidism, Microphthalmia, Developmental cataract	OMIM:127000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Lens subluxation, Microphthalmia, Ectopia pupillae	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Microphthalmia	OMIM:253800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ...	OMIM:619534
Steinfeld Syndrome	Absent gallbladder, Bifid uvula, Median cleft lip and palate, Iris coloboma, Microphthalmia	OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Megalocornea, Hypoplasia of the retina, Micrognathia, Everted lower lip vermilion, Buphthalmos, C...	OMIM:253280
Cystic Fibrosis	Failure to thrive, Male infertility, Chronic sinusitis	OMIM:219700
Holoprosencephaly 1	Diabetes insipidus, Median cleft lip and palate, Microphthalmia, Micropenis, Adrenal hypoplasia	OMIM:236100
Isolated Arrhinia	Hypoplasia of the nasal bone, Eyelid coloboma, Microphthalmia	ORPHA:1134
8Q24.3 Microdeletion Syndrome	Patent ductus arteriosus, Long philtrum, Cleft maxillary alveolar ridge, Epicanthus, Small for ge...	ORPHA:508488
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Median cleft lip, Iris coloboma, Microphthalmia, Orofacial cleft	ORPHA:3186
Osteoporosis-Pseudoglioma Syndrome	Absent anterior chamber of the eye, Cataract, Microphthalmia, Iris atrophy, Phthisis bulbi	OMIM:259770
Holoprosencephaly 2	Diabetes insipidus, Bilateral cleft lip and palate, Bifid uvula, Submucous cleft hard palate, Med...	OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne...	OMIM:175780

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Brain - developmental dysplasia	Ehd1^{tm1a(EUCOMM)Wtsi}	HET	Early adult
Testes - process of degenerative change	Ehd1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult
Brain - developmental dysplasia	Ehd1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult

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 Ehd1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ehd1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ehd1^{tm1a(EUCOMM)Wtsi}	PMC6459510

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MGI Allele	Allele Type	Produced
Ehd1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ehd1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ehd1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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Gene: Ehd1 MGI:1341878

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Ehd1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data