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Gene: Ehd1 MGI:1341878

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Gene Summary

Name:
EH-domain containing 1
Synonyms:
RME-1,  Past1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Ehd1tm1a(EUCOMM)Wtsi HET   Early adult 1.99×10-05
increased circulating HDL cholesterol level Ehd1tm1a(EUCOMM)Wtsi HET Early adult 9.20×10-05
abnormal eyelid aperture Ehd1tm1a(EUCOMM)Wtsi HOM Early adult 4.83×10-06
increased circulating LDL cholesterol level Ehd1tm1a(EUCOMM)Wtsi HET Early adult 6.13×10-05
increased circulating cholesterol level Ehd1tm1a(EUCOMM)Wtsi HET Early adult 3.20×10-05
increased circulating chloride level Ehd1tm1a(EUCOMM)Wtsi HET Early adult 5.44×10-13

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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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

20 Images

View images
Legacy Phenotype Associated Images
Ehd1tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Ehd1tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Ehd1tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Ehd1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Ehd1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI

View all 148 images

Ehd1tm1a(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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
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
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
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 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Microphthalmia, Syndromic 12
Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal death, Micr... OMIM:615524
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
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 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, Hypogonadism, High palate, Narrow... ORPHA:2528
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Mcdonough Syndrome
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Dental maloc... ORPHA:2471
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital cyst, Cleft palate, Eyelid coloboma, Microphthalmia OMIM:164180
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Microcorne... OMIM:601349
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Microphthalmia ORPHA:3434
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, High palate, Microphthalmia, A... ORPHA:139471
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasi... ORPHA:90322
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Epicanthus, Telecanthus, Cataract, Micrognathia, Abnormality ... ORPHA:85321
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Pierpont Syndrome
Thin upper lip vermilion, Telecanthus, Small for gestational age, Cryptorchidism, Microcornea, Na... ORPHA:487825
Pierpont Syndrome
Telecanthus, Long upper lip, Cryptorchidism, Unilateral narrow palpebral fissure, Microcornea, Na... OMIM:602342
Cerebrooculonasal Syndrome
Epicanthus, Hypoplasia of penis, Sparse eyelashes, Anophthalmia, Sparse eyebrow, Upslanted palpeb... ORPHA:66625
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Short philtrum, Widely spaced teeth, Microdontia, Hypospadias, Exaggerated cupid's bow... OMIM:619293
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia ORPHA:363741
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Clef... OMIM:610125
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Trisomy 13
Anophthalmia, Cataract, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morpholo... ORPHA:3378
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Fanconi Anemia, Complementation Group S
Epicanthus, Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Upslanted palpebra... OMIM:617883
Warburg Micro Syndrome 1
External genital hypoplasia, Micrognathia, Cryptorchidism, Developmental cataract, Microcornea, T... OMIM:600118
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Cataract, Cryptorchidism, Neonatal death, Microphthalmia OMIM:613730
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Abnormal eyelash morphology, Deep philt... OMIM:206920
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia OMIM:601794
Cofs Syndrome
Death in infancy, Cataract, Micrognathia, Hypogonadism, Everted lower lip vermilion, Microphthalmia ORPHA:1466
Hydrolethalus
Anophthalmia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft pa... ORPHA:2189
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Cleft palate, Ambiguous genitalia, Microphthalmia OMIM:613885
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Patent ductus arteri... OMIM:613680
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Failure of eruption of ... ORPHA:2250
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Patent ductus arter... ORPHA:77298
Harrod Syndrome
Cataract, Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narrow mouth, Failure to... ORPHA:2115
Seckel Syndrome 1
Hypospadias, Dental crowding, Selective tooth agenesis, Abnormally large globe, Micrognathia, Cry... OMIM:210600
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Wagr Syndrome
Cataract, Micrognathia, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Everted lower li... ORPHA:893
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Micrognathia, Malar prominence, Microcornea, Long eyelas... ORPHA:48431
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Zimmermann-Laband Syndrome
Telecanthus, Cataract, Abnormal external genitalia, Micrognathia, Supernumerary tooth, Gingival f... ORPHA:3473
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, E... OMIM:615877
Noonan Syndrome 4
Epicanthus, Large for gestational age, Sparse eyebrow, Cryptorchidism, Bilateral ptosis, Blue iri... OMIM:610733
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... OMIM:257850
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Paranasal sinus hypoplasia, Cryptorchidism,... OMIM:603457
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Abnormality of the ovary, Ptosis ORPHA:1875
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Cockayne Syndrome Type 1
Mandibular prognathia, Anophthalmia, Cataract, Delayed eruption of primary teeth, Abnormality of ... ORPHA:90321
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular si... ORPHA:320391
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Iris coloboma OMIM:611638
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, Punctate cata... OMIM:607812
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Trisomy 1Q
Microretrognathia, Anophthalmia, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Cleft p... ORPHA:261344
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Cataract, Small for gestational age, Micrognathia, Carious teeth, Cryp... OMIM:214150
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Proboscis Lateralis
Anophthalmia, External genital hypoplasia, Abnormal morphology of bony orbit of skull, Orofacial ... ORPHA:141099
Cri-Du-Chat Syndrome
Microretrognathia, Epicanthus, Cataract, Hypospadias, Small for gestational age, Cryptorchidism, ... OMIM:123450
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Submucous cleft har... ORPHA:899
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Cryptorchidism, Pat... OMIM:243310
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Cataract, Micrognathia, Developmental cataract, Death i... OMIM:610756
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Long eyelashes, Short philtrum, T... ORPHA:411986
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Rubinstein-Taybi Syndrome 2
Epicanthus, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, ... OMIM:613684
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth, Malar flattening OMIM:616108
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Neurooculocardiogenitourinary Syndrome
Epicanthus, Bilateral cryptorchidism, Patent ductus arteriosus, Downturned corners of mouth, Pete... OMIM:618652
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Epicanthus, Cataract ORPHA:2489
Martin-Probst Syndrome
Bifid scrotum, Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Thick lower lip vermilion, ... OMIM:300519
8Q21.11 Microdeletion Syndrome
Epicanthus, Hypoplasia of penis, Iris hypopigmentation, Corneal opacity, Sclerocornea, Cataract, ... ORPHA:284160
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... OMIM:616331
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:214700
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, ... ORPHA:1101
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Trichothiodystrophy 3, Photosensitive
Natal tooth, Cataract, Bilateral cryptorchidism, Carious teeth, Developmental cataract, Eclabion,... OMIM:616395
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Abnormality iris morphology, Cleft palate, Abnormal oral fre... ORPHA:1617
Short Syndrome
Delayed eruption of teeth, Telecanthus, Rieger anomaly, Small for gestational age, Cataract, Micr... OMIM:269880
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Epicanthus, Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the denti... ORPHA:363444
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Blepharophimosis... OMIM:141300
Hallermann-Streiff Syndrome
Natal tooth, Cataract, Sparse eyelashes, Small for gestational age, Selective tooth agenesis, Mic... OMIM:234100
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Hypospadias, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Syn... OMIM:616737
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Neonatal death, ... ORPHA:85284
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Large for gestational age, Microcornea, Microphthalmia, Median cleft palate ORPHA:2432
Hamamy Syndrome
Hypoparathyroidism, Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Micrognathia, Sparse... OMIM:611174
Nance-Horan Syndrome
Diastema, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Mulberry molar, Supe... OMIM:302350
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Epicanthus, Telecanthus, Highly arched eyebrow, Open bite, Synophrys, Abno... ORPHA:1327
Myopathy, Centronuclear, X-Linked
Cryptorchidism, High palate, Dental malocclusion OMIM:310400
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Epicanthus, Dental malocclusion, High palate, Downslanted palpebral fissures OMIM:618292
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Cryptorchidism, Abnor... ORPHA:1381
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Telecanthus, Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorchidism, Upslante... ORPHA:228390
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Hypospadias, Sparse eyebrow, Unilateral microphthalmo... OMIM:618874
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, External genital hypoplasia, Micrognathia, ... ORPHA:251028
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Long philtrum, Narrow mouth, ... OMIM:615663
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Small for gestational age, Hypoplas... OMIM:101800
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teet... ORPHA:2728
Potocki-Lupski Syndrome
Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus... OMIM:610883
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia, Narrow mouth ORPHA:3469
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cerebellofaciodental Syndrome
Cataract, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Taurodontia, Macrodontia of perman... OMIM:616202
Joubert Syndrome 37
Cryptorchidism, Obesity, High palate, Microphthalmia, Micropenis, Decreased testicular size, Ptosis OMIM:619185
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Van Maldergem Syndrome 2
Bifid scrotum, Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Microgna... OMIM:615546
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... OMIM:610829
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Dental malocclusion, Upslanted palpebral fissure, Malar flattening, Juven... ORPHA:436245
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Bilateral microphthalmos, H... OMIM:601186
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... OMIM:211380
Warburg Micro Syndrome 3
Small scrotum, Cataract, Micrognathia, Hypoplastic labia minora, Narrow palate, Developmental cat... OMIM:614222
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Micrognathia, Downturned corners of mouth, Short philtrum, Ambiguous genitalia, Microph... ORPHA:93267
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Narrow palate... OMIM:605627
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Open bite, Dental ma... ORPHA:61
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Orbital cyst OMIM:251505
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Epicanthus, Dental malocclusion OMIM:619692
Microphthalmia, Syndromic 2
Anophthalmia, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Hypothyroidism, Bi... OMIM:300166
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, External genital hypoplasia, Micrognathia, Deep philtrum, Dental malocc... ORPHA:329178
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Microcornea, ... ORPHA:2505
Cerebellar-Facial-Dental Syndrome
Cataract, Micrognathia, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overg... ORPHA:444072
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adre... ORPHA:264200
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Cryptorchidism, Bilateral ptosis, ... ORPHA:404440
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Blepharophimosis, Ptosis, And Epicanthus Inversus
Ptosis, Telecanthus, Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, ... OMIM:110100
Schwartz-Jampel Syndrome
Micrognathia, Microcornea, High palate, Long philtrum, Pursed lips, Death in infancy, Supernumera... ORPHA:800
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Hypospadias, Micrognathia, Cryptorchidism, Astigmatism, Peters anomaly, Blepharophimo... ORPHA:494344
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryptorchidism, Cleft ... OMIM:614230
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Hajdu-Cheney Syndrome
Epicanthus, Telecanthus, Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Synop... OMIM:102500
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Abnormal dental pulp morp... ORPHA:2791
Robinow Syndrome, Autosomal Dominant 3
Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft lip, Denta... OMIM:616894
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Downturned corners of mouth, High palate, Intercrural pterygium, Pterygium, Hypospa... OMIM:265000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Seckel Syndrome 2
Small for gestational age, Hypospadias, Micrognathia, Microdontia, Microphthalmia, Microglossia OMIM:606744
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypopl... OMIM:206900
Vacterl With Hydrocephalus
Anophthalmia, Micrognathia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Micr... ORPHA:3412
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Death in infancy, Highly arched eyebrow, Micrognathia, Cryptorchidism, ... OMIM:619135
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Persistence of primary teeth, Dental malocclusion, Ectopia pupillae, Ast... OMIM:618727
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Dental malocclusion, High palate, Ptosis OMIM:608931
Mulibrey Nanism
Dental crowding, Corneal dystrophy, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic fronta... OMIM:253250
Anencephaly 2
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Median cleft palate, Short palpeb... OMIM:619452
Momo Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Large for gestational age, Abno... ORPHA:2563
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Synophrys, Deep philtrum, Iris coloboma, Diabetes insipidus, B... ORPHA:2162
Moebius Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentition, Congenital... OMIM:157900
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Va... OMIM:248450
Cohen Syndrome
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... ORPHA:193
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Microcornea, High palate, Microdontia, Absent eyebrow, Absen... OMIM:268400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella, Recurrent sinusitis OMIM:620197
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Au-Kline Syndrome
Supernumerary nipple, Lagophthalmos, Cryptorchidism, Dental malocclusion, Retrognathia, Cleft pal... OMIM:616580
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Epispadias, Abnormal fallop... ORPHA:2556
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid... ORPHA:861
Craniosynostosis 3
Dental malocclusion, Ptosis OMIM:615314
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Eyelid colobom... ORPHA:1104
Acrootoocular Syndrome
Delayed eruption of teeth, Epicanthus, Small for gestational age, Decreased response to growth ho... ORPHA:2980
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ohdo Syndrome, X-Linked
Epicanthus, Small scrotum, Micrognathia, Sparse eyebrow, Cryptorchidism, Microdontia, Narrow mout... OMIM:300895
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Meckel Syndrome
True hermaphroditism, Anophthalmia, Pancreatic fibrosis, Sclerocornea, Cataract, Pancreatic cysts... ORPHA:564
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea OMIM:611038
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Cleft upper lip, Spar... OMIM:612530
Cockayne Syndrome B
Mandibular prognathia, Small for gestational age, Delayed eruption of primary teeth, Carious teet... OMIM:133540
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Micrognathia, Microdontia, Upslanted palpebral fissure, Astigmatism, Widely spaced teet... OMIM:619694
Microphthalmia, Lenz Type
Delayed eruption of teeth, Cataract, Hypospadias, Abnormal dental morphology, Abnormality of the ... ORPHA:568
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Epicanthus, Cryptorchidism, Bilateral microphthalmos, Upslanted palpebral ... ORPHA:369891
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Microphthalmia, Hypoplasia of penis, Micrognathia ORPHA:2547
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Developmental cataract, Gingival bleeding, Microphthalmia, Micropenis, ... ORPHA:335
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Fraser Syndrome 1
Anophthalmia, Dental crowding, Malformed lacrimal duct, Abnormal thymus morphology, Micropenis, C... OMIM:219000
Intellectual Developmental Disorder, Autosomal Recessive 39
Synophrys, Dental malocclusion OMIM:615541
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Decreased fertility, Hypoplasia of teeth, Microcornea, Keratoconjun... OMIM:234050
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Van Maldergem Syndrome 1
Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasi... OMIM:601390
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Epicanthus, Patent ductus arteriosus, Dental malocclusion, Upslanted pa... OMIM:619149
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Deep philtrum, Trismus, Dental malocclusion, Narrow palate, Wide mouth, High pala... OMIM:227330
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Microgn... ORPHA:1106
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Micrognathia, Cryptorchidism, Orofacial cleft, Microcornea, Narr... ORPHA:3301
Laron Syndrome
Hypercholesterolemia ORPHA:633
Marden-Walker Syndrome
Epicanthus, Hypospadias, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Long ph... OMIM:248700
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Micrognathia, Diastema, Cryptorchi... ORPHA:96121
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Micrognathia, Synophrys, Widely spaced teeth, High palate, Microdontia, Bi... OMIM:612474
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Microphthalmia, Syndromic 13
Ptosis, Microcornea, Microphthalmia, Iris coloboma, Widely-spaced incisors OMIM:300915
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract, Ptosis ORPHA:1069
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... ORPHA:97360
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Anophthalmia, Dental crowding, Orofacial cleft, Malformed lac... ORPHA:2052
Micro Syndrome
Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Microcorne... ORPHA:2510
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Small for gestational age OMIM:278780
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow... OMIM:182212
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Developmental cataract, Hypoplastic labia majora, Microc... OMIM:614225
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Malar flattening, Ectopia lentis, Dental malocclusion, Spherophakia, Ante... OMIM:601552
Martsolf Syndrome 1
Epicanthus, Cataract, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla, Cry... OMIM:212720
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Kapur-Toriello Syndrome
Cataract, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Hypoplastic la... OMIM:244300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Irregular dentition, Epicanthus, Tented upper lip vermilion, Hypospadias, Small fo... OMIM:619148
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Momo Syndrome
Delayed eruption of teeth, Epicanthus, Thick lower lip vermilion, Dental malocclusion, Obesity, E... OMIM:157980
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Micrognathia OMIM:616570
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Microphthalmia, Posterior embryotoxon,... ORPHA:1473
Wagro Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Obesity, Aniridi... OMIM:612469
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Jacobsen Syndrome
U-Shaped upper lip vermilion, Epicanthus, Telecanthus, Hypospadias, Micrognathia, Abnormal eyelas... OMIM:147791
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Muenke Syndrome
Dental malocclusion, High palate, Malar flattening, Downslanted palpebral fissures, Ptosis OMIM:602849
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Epicanthus, Cryptorchidism, High, narrow palate, Cleft palate, Long phi... OMIM:618494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Microphthalmia, Cataract, Micrognathia OMIM:616171
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... OMIM:305400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Decreased circul... OMIM:241410
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Dental crowding, Abnormality of the dentition, Patent ductus arteriosus, O... ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Cataract, Hypospadias, Tented upper lip vermilion, Cleft palate, Furrowed tongue, Mic... OMIM:616449
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cataract, Corneal opacity, Myopic as... OMIM:152950
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Downslanted palpebral fi... OMIM:612350
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Microphthalmia, Iris coloboma OMIM:120433
Charge Syndrome
Bifid scrotum, Anophthalmia, Eyelid coloboma, Micropenis, Iris coloboma, Hypogonadotropic hypogon... ORPHA:138
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Downturned corners of mouth, Shallow orbits, Hypothyroidism, Bifid uvula, Ex... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Downturned corners of mouth, Shallow orbits, Hypothyroidism, Bifid uvula, Ex... ORPHA:352665
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Cataract, Highly arched eyebrow, Ectopia lentis, Abnormality of the de... ORPHA:2712
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Conical tooth, Bilateral cryptorchidism, Sparse eyebrow, Upslanted... OMIM:613451
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Miscarriage, Abnor... ORPHA:330015
Kapur-Toriello Syndrome
Hypoplasia of penis, Patent ductus arteriosus, Orofacial cleft, Hypoplastic labia majora, Microph... ORPHA:2328
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Anophthalmia, Adrenal hypoplasia, Sclerocornea, Micrognathia,... OMIM:607932
Kabuki Syndrome 2
Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion,... OMIM:300867
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent sinusitis OMIM:300991
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Highly arched eyebrow, Sparse ... ORPHA:487796
Microphthalmia, Isolated 8
Anophthalmia, Entropion, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr... OMIM:615113
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr... OMIM:617091
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Long p... OMIM:614583
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Epicanthus, Small scrotum, Hypospadias, Micrognathia, Microdontia, Cryp... OMIM:616734
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... OMIM:101200
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Cockayne Syndrome A
Mandibular prognathia, Cataract, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism... OMIM:216400
Dubowitz Syndrome
Delayed eruption of teeth, Epicanthus, Telecanthus, Hypospadias, Micrognathia, Carious teeth, Cry... OMIM:223370
1Q21.1 Microdeletion Syndrome
Epicanthus, Cataract, Cryptorchidism, Patent ductus arteriosus, High palate, Long philtrum, Micro... ORPHA:250989
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphtha... OMIM:613001
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Sclerosteosis 1
Mandibular prognathia, Irregular menstruation, Dental malocclusion, Facial palsy secondary to cra... OMIM:269500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Patent ductu... OMIM:616300
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Non-midline cleft lip, Upper eyelid co... ORPHA:1791
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... OMIM:167730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Cockayne Syndrome
Diabetes mellitus, Cataract, Abnormal dental morphology, Cachexia, Band keratopathy, Delayed erup... ORPHA:191
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Hallermann-Streiff Syndrome
Natal tooth, Telecanthus, Sparse eyelashes, Malar flattening, Micrognathia, Sparse eyebrow, Crypt... ORPHA:2108
Pycnodysostosis
Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro... ORPHA:763
Gracile Bone Dysplasia
Death in infancy, Aniridia, Microphthalmia, Micropenis, Failure to thrive, Ankyloglossia OMIM:602361
Noonan Syndrome 1
Male infertility, Epicanthus, Hypospadias, Failure to thrive in infancy, Micrognathia, Cryptorchi... OMIM:163950
Trichothiodystrophy 1, Photosensitive
Death in infancy, Cataract, Small for gestational age, Microcornea, Keratoconjunctivitis sicca, H... OMIM:601675
Frontonasal Dysplasia 1
Epicanthus, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, W... OMIM:136760
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... OMIM:147250
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, High palate, Micropeni... OMIM:614976
Temtamy Syndrome
Dental crowding, Highly arched eyebrow, Lens luxation, Ectopia lentis, Micrognathia, Hypoplasia o... OMIM:218340
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Ank... OMIM:263650
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Chronic sinusitis, Recurrent sinusitis OMIM:612444
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Myopathy, Myofibrillar, 8
High palate, Dental malocclusion, Micrognathia, Ptosis OMIM:617258
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Small for gestational age, Highly arched eyebrow, Retrogn... OMIM:618804
Temtamy Syndrome
Telecanthus, Micrognathia, Thick lower lip vermilion, Microphthalmia, Iris coloboma, Abnormal pal... ORPHA:1777
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
2Q31.1 Microdeletion Syndrome
Epicanthus, Micrognathia, Cryptorchidism, Synophrys, Deep philtrum, Cleft palate, Downturned corn... ORPHA:251014
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Cryptorchidism, ... OMIM:154500
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... OMIM:190350
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Recurrent sinusitis, Immoti... OMIM:614874
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Failure to thrive OMIM:274270
Nanophthalmos
Microphthalmia ORPHA:35612
Bartsocas-Papas Syndrome 2
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Ankyloblepharon, B... OMIM:619339
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A... ORPHA:1772
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy... OMIM:601678
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, B... ORPHA:3079
Phelan-Mcdermid Syndrome
Epicanthus, Palpebral edema, Micrognathia, Patent ductus arteriosus, Dental malocclusion, Long ey... OMIM:606232
Monosomy 9P
Epicanthus, Hypospadias, Highly arched eyebrow, Blepharophimosis, Micrognathia, Cryptorchidism, S... ORPHA:261112
Mend Syndrome
Telecanthus, Cataract, Micrognathia, Asymmetry of the mouth, Cryptorchidism, Cleft palate, Upslan... ORPHA:401973
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Abnormality of the dentition, Absent eyelashes, Open bite, Micrognath... OMIM:115150
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior open-bite m... OMIM:617877
Wolfram Syndrome 1
Ptosis, Diabetes mellitus, Diabetes insipidus, Cataract, Hypothyroidism, Testicular atrophy OMIM:222300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Branchiooculofacial Syndrome
Telecanthus, Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Micrognathia, Cleft upper... OMIM:113620
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Orofacial cleft, Developmental cataract ORPHA:324416
Three M Syndrome 2
Delayed eruption of teeth, Small for gestational age, Dental malocclusion, High palate, Thick ver... OMIM:612921
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Congenital Myopathy 17
Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Failure to thrive in infancy, Den... OMIM:618975
Trisomy 18
Microretrognathia, Epicanthus, Cataract, Cachexia, Cryptorchidism, Non-midline cleft lip, Cleft p... ORPHA:3380
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Adams-Oliver Syndrome 4
Microphthalmia, Patent ductus arteriosus OMIM:615297
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Cataract, Hypospadias, Dental crowding, Carious teeth, Cryptorchidism, Patent ductus... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Hypospadias, Highly arched eyebrow, Cryptorchidism, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Hypospadias, Highly arched eyebrow, Cryptorchidism, P... ORPHA:353277
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Hypospadias, Cholelithiasis, Exagg... ORPHA:464738
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Fryns Syndrome
Tented upper lip vermilion, Hypospadias, Corneal opacity, Median cleft lip, Micrognathia, Cryptor... ORPHA:2059
Monosomy 18P
Epicanthus, Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtru... ORPHA:1598
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Smooth philtrum, Epicanthus, Exaggerated cupid's bow, Supernumerary nipple, Sparse eyebrow, Cleft... OMIM:620098
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... ORPHA:89938
Intermediate Osteopetrosis
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... ORPHA:210110
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Supernumerary nipple, Ectopia lentis, Cleft upper lip, C... OMIM:305600
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cle... ORPHA:99776
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Hartsfield Syndrome
Telecanthus, Non-midline cleft lip, Cleft palate, Microphthalmia, Downslanted palpebral fissures,... ORPHA:2117
Fanconi Anemia
Abnormal eyelid morphology, Micrognathia, High palate, Abnormality of the uterus, Abnormality of ... ORPHA:84
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Cat-Eye Syndrome
Microphthalmia, Downslanted palpebral fissures, Iris coloboma ORPHA:195
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Oral leukoplakia OMIM:618165
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Hypospadias, Cataract, ... OMIM:309500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Tented upper lip vermilion, Corneal opacity, Exaggerated cupid's bow, Abnormality of... ORPHA:364577
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Abnormal pupil morphol... ORPHA:534
Nance-Horan Syndrome
Mandibular prognathia, Cataract, Abnormality of the dentition, Supernumerary tooth, Microcornea, ... ORPHA:627
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Micr... OMIM:227650
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Charge Syndrome
Anophthalmia, External genital hypoplasia, Decreased response to growth hormone stimulation test,... OMIM:214800
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Micrognathia, Cryptorchidism, Deep ph... OMIM:613884
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Upslanted palpebral fissure, Bicornuate uter... OMIM:264480
Nanophthalmos 4
Microphthalmia OMIM:615972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Optic nerve hypoplasia, Peters anomaly, Micrognathia, Cryptorchidism, ... OMIM:236670
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Coffin-Lowry Syndrome
Mandibular prognathia, Telecanthus, Highly arched eyebrow, Thick lower lip vermilion, Dental malo... OMIM:303600
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Downslanted palpeb... OMIM:619981
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Epicanthus, Tented upper lip vermilion, Cataract, High palate, Short philtrum, Long philtrum, Mic... OMIM:614105
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,... ORPHA:2166
Williams Syndrome
Hypoplasia of penis, Micrognathia, Microdontia, Megalocornea, Hypothyroidism, Hypogonadotropic hy... ORPHA:904
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Cataract, Hypogonadism OMIM:610651
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip OMIM:600251
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Epicanthus, Downslanted palpebral fissures, Smooth philtrum OMIM:602501
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Sutural cataract OMIM:201470
Oculotrichoanal Syndrome
Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos ORPHA:2717
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperaldosteronis... OMIM:241200
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Epicanthus, Hypospadias, Micrognathia, Cryptorchidism, Patent ductus arteriosus,... OMIM:616975
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... OMIM:603467
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Ring Chromosome 10 Syndrome
Cachexia, Micrognathia, Thin vermilion border, Long philtrum, Microphthalmia, Downslanted palpebr... ORPHA:1438
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Perineal fistula, Rectovaginal fistula, Microphthalmia, Failure to thrive ORPHA:2538
Fryns Syndrome
Bifid scrotum, Microretrognathia, Ectopic pancreatic tissue, Hypospadias, Tented upper lip vermil... OMIM:229850
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Cataract, Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Long ... ORPHA:163649
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Cleft palate, Hypoplasia of the uterus, Chordee, ... OMIM:309801
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Decreased response to grow... OMIM:146510
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Micrognathia, Microcornea, Shallow orbits, Iris transillumination defect, Decreased bod... OMIM:617306
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc... OMIM:615560
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Thin vermilion border, Lon... ORPHA:85194
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Epicanthus, Cataract, Cleft lip, Deep philtrum, Cleft palate, Downturned corne... OMIM:618571
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Alveolar ridge overgrowth, Cleft palate, Microcornea, ... OMIM:260660
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Cataract, Abnormal eyelid morp... ORPHA:2526
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Abnormally large globe, Micrognathia, Developmental glaucoma, Dental ma... OMIM:249420
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Pelvis-Shoulder Dysplasia
Micrognathia, Bilateral microphthalmos, Cleft palate, Microcornea, Thick anterior alveolar ridges... ORPHA:2839
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Cataract, Small for gestational age, Hypoplasia ... OMIM:139210
Subaortic Stenosis-Short Stature Syndrome
Epicanthus, Micrognathia, Obesity, Type II diabetes mellitus, Microdontia, Microphthalmia ORPHA:3191
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Epicanthus, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper l... OMIM:300373
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Monosomy 9Q22.3
Delayed eruption of teeth, Epicanthus, Ovarian fibroma, Cataract, Odontogenic keratocysts of the ... ORPHA:77301
Fanconi Anemia, Complementation Group E
Small for gestational age, Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism OMIM:600901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Developmental cataract OMIM:613155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Primary amenorrhea, Se... OMIM:157640
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Developmental cataract, Co... ORPHA:93325
Larsen-Like Syndrome
Malar flattening, Dental malocclusion, Cleft palate OMIM:608545
Mosaic Trisomy 1
Microretrognathia, Thick lower lip vermilion, Orofacial cleft, Cleft palate, Congenital bilateral... ORPHA:1692
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Congenital Rubella Syndrome
Cataract, Corneal opacity, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, Type I diabe... ORPHA:290
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Cataract, Corneal opacity, Death in childhood OMIM:613153
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Dental crowding, Cleft upper lip, Cryptorchidism, High, narrow palate,... OMIM:309800
Fanconi Anemia, Complementation Group C
Epicanthus, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Microphtha... OMIM:227645
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Obesity, Cleft palate, High ... ORPHA:251038
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Sparse eyelashes, Dental crowding, Decreased serum leptin, Micrognathia, Spars... OMIM:614008
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Micrognathia, Cleft palate, Upslanted palpebral fissure, Microcornea, High palate, Hy... OMIM:156610
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Narrow palpebral fissure, Long philtrum, Microphthalmia, Ocular anteri... OMIM:615145
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Micrognathia, High, narrow palate, P... ORPHA:435638
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Optic nerve hypoplasia, Vaginal atresia OMIM:617914
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Malar flattening, Downslanted pal... OMIM:608257
Fetal Alcohol Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Micrognathia, Non-midline cleft lip, Cleft pal... ORPHA:1915
Fontaine Progeroid Syndrome
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Synophrys, Oligodontia, ... OMIM:612289
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Lower eyelid retract... OMIM:118400
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Malar flattening, Abnormality o... OMIM:618371
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Highly arched eyebrow, Long philtrum OMIM:300887
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Corneal opacity, Cachexia, Sclerocornea, Catar... ORPHA:649
Adams-Oliver Syndrome 2
Microphthalmia, Narrow palpebral fissure, Micrognathia, Developmental cataract OMIM:614219
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract, Failure to thrive in infancy OMIM:618805
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Downturned corners of mouth, Hypothyroidism, Bifid uvula, Iris coloboma, Sparse eye... OMIM:620186
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Cleft palate, Microphthalmia OMIM:613456
Frontofacionasal Dysplasia
Telecanthus, Cataract, Malar flattening, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Micro... OMIM:229400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Micrognathia, Microdontia, Cryptorchidism, Patent ductus arteriosus, Thick vermilion bo... OMIM:620005
Neu-Laxova Syndrome 1
Ablepharon, Cataract, Bifid uterus, Absent eyelashes, Cryptorchidism, Patent ductus arteriosus, M... OMIM:256520
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Mandibular prognathia, Hypospadias, Dental crowding, Sparse eyebrow, Cryptorch... ORPHA:3063
Lissencephaly 8
Microphthalmia, Cataract OMIM:617255
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Congenital Toxoplasmosis
Microphthalmia, Failure to thrive in infancy ORPHA:858
Frontorhiny
Epicanthus, Cataract, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Micro... ORPHA:391474
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion OMIM:608940
Trichothiodystrophy
Epicanthus, Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, High, narr... ORPHA:33364
Yunis-Varon Syndrome
Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... ORPHA:3472
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Sh... ORPHA:567
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Downslanted palpebral fissures, ... OMIM:614526
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Roberts Syndrome
Cataract, Micrognathia, Cleft upper lip, Cryptorchidism, Long penis, Cleft palate, High palate, M... ORPHA:3103
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju... ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Patent ductus arterios... OMIM:227646
Meckel Syndrome 14
Microretrognathia, Micrognathia, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia, Retr... OMIM:619879
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, External genital hypoplasia, Adrenal hypoplasia, Micrognat... OMIM:249000
Mowat-Wilson Syndrome
Bifid scrotum, Delayed eruption of teeth, Cataract, Hypospadias, Supernumerary nipple, Cryptorchi... OMIM:235730
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hypercholesterolemia, Hyperlipidemia OMIM:248370
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Micrognathia, Bilateral microphthalmos, Death in childhood, Short p... OMIM:610758
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, U-Shaped upper lip vermilion, Epicanthus, Hypospadias, Micrognathia, Cryptorchidis... OMIM:609945
Oculodentodigital Dysplasia
Epicanthus, Cataract, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Clef... OMIM:164200
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Deafness, X-Linked 7
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis OMIM:301018
Joubert Syndrome 14
Epicanthus, Tented upper lip vermilion, Highly arched eyebrow, Malar flattening, Cleft palate, Sh... OMIM:614424
Mosaic Variegated Aneuploidy Syndrome
Epicanthus, Cataract, Corneal opacity, Vaginal neoplasm, Micrognathia, Hypothyroidism, Cleft pala... ORPHA:1052
Localized Scleroderma
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... ORPHA:90289
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Septate vagina, Micrognathia, Hamartoma of tongue, Cleft lip, Ut... OMIM:617925
Atelis Syndrome 2
Epicanthus, Micrognathia, Diastema, Patent ductus arteriosus, Elevated circulating thyroid-stimul... OMIM:620185
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Cleft palate, Microcornea, Wide mou... OMIM:243605
Faciocardiomelic Syndrome
Telecanthus, Micrognathia, Large for gestational age, Dental malocclusion, Hyperplasia of the max... OMIM:612731
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent frontal sinuses, Absent outer dynein arms, Abnormal cornea morphology, C... OMIM:244400
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Failure to thrive, Cataract OMIM:612379
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Micrognathia, Cleft upper ... OMIM:273395
Oculoauricular Syndrome
Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Nasolacrimal duct obstruction, Dev... OMIM:612109
Oliver Syndrome
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, Short philtrum, High palate, Th... ORPHA:2920
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis OMIM:619607
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Small for gestational age, D... ORPHA:125
Joubert Syndrome 2
Microphthalmia, Failure to thrive, High palate, Hypoplastic male external genitalia OMIM:608091
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos,... ORPHA:468631
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Cataract, Cleft upper... OMIM:109400
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Long eyebrows, Cleft upper lip, Cleft palate, Wide mouth, Ol... OMIM:201180
Neuroocular Syndrome
Synophrys, Lens coloboma, Microcornea, Downturned corners of mouth, Widely spaced teeth, Torus pa... OMIM:619539
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Optic nerve hypoplasia, Abnormality iris morphology, Macroglossia, Microphthalmia, Mega... ORPHA:370959
Spondyloenchondrodysplasia
Delayed eruption of teeth, Hypothyroidism, Decreased response to growth hormone stimulation test,... ORPHA:1855
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Epicanthus, Hypospadias, Supernumerary n... OMIM:312870
Fraser Syndrome 2
Hypoplasia of the thymus, Narrow mouth, Ambiguous genitalia, Microphthalmia, Cryptophthalmos OMIM:617666
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Narrow mouth, Optic nerve hypoplasia, Decreased body weight OMIM:614833
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Anisocoria, Male uret... OMIM:613406
Rodrigues Blindness
Microcornea, Microphthalmia, Tooth malposition, Sclerocornea OMIM:268320
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Fibular Hemimelia
Anophthalmia, Abnormal anterior chamber morphology ORPHA:93323
Lymphedema-Distichiasis Syndrome
Ptosis, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Corneal ulceration... OMIM:153400
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Sparse eyebrow, Microcornea, High palate, Microphthalmia, Downslanted... ORPHA:35173
Stevenson-Carey Syndrome
Pierre-Robin sequence, Downturned corners of mouth, Narrow mouth, Microphthalmia, Downslanted pal... OMIM:611961
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys, Cleft palate ORPHA:261272
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia, Retrognathia OMIM:618914
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalm... OMIM:607597
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia ORPHA:90794
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Cleft palate, Cleft upper lip OMIM:614402
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Catara... ORPHA:857
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Epicanthus, Diabetes mellitus, Failure to thrive in infancy, Malar... OMIM:194050
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Sclerocornea, Delayed eruption of primary teeth, Lacrimal duct atresi... OMIM:300952
Roberts-Sc Phocomelia Syndrome
Micrognathia, Eyelid coloboma, High palate, Shallow orbits, Hyperplasia of the maxilla, Hypospadi... OMIM:268300
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... ORPHA:1942
Xeroderma Pigmentosum, Complementation Group D
Entropion, Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corne... OMIM:278730
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Sparse eyelashes, Malar flattening, Sparse eyebrow, Microphthalmia, Failure to thrive, ... OMIM:302960
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Enamel hypoplasia, Fail... OMIM:309000
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epicanthus, Micrognathia, Synophrys, Hypoplastic sweat glands, Dental malocclusion, Localized hyp... ORPHA:73223
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Micrognathia, Wide mouth, Short philtrum, Microphthalmia ORPHA:163966
Monosomy 22Q13.3
Epicanthus, Palpebral edema, Dental crowding, Dental malocclusion, Obesity, Long eyelashes, Malar... ORPHA:48652
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Narrow philt... OMIM:601812
Fanconi Anemia, Complementation Group L
Micrognathia, Cleft palate, Upslanted palpebral fissure, Aplasia of the uterus, Microphthalmia, M... OMIM:614083
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Panhypopit... ORPHA:672
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Decre... OMIM:609053
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Small for gestational age, Micrognathia, Hypoplasia of the iris, Wide mouth... OMIM:251300
Microcephaly-Micromelia Syndrome
Micrognathia, Cleft palate, Narrow mouth, Neonatal death, Microphthalmia, Short palpebral fissure OMIM:251230
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma OMIM:212550
Aneurysm-Osteoarthritis Syndrome
Patent ductus arteriosus, Dental malocclusion, Cleft palate, High palate, Uterine prolapse, Malar... ORPHA:284984
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Cataract, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Persistent ... OMIM:613150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Hypospadia... ORPHA:508498
Refsum Disease
Microphthalmia, Cataract, Ptosis ORPHA:773
Histiocytoid Cardiomyopathy
Corneal opacity, Cleft palate, Polycystic ovaries, Microphthalmia, Megalocornea, Failure to thriv... ORPHA:137675
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Abnormal denta... ORPHA:666
Vitreoretinochoroidopathy
Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract OMIM:193220
Aicardi Syndrome
Prominence of the premaxilla, Cleft upper lip, Precocious puberty, Cleft palate, Short philtrum, ... ORPHA:50
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Ocular albinism, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia ORPHA:1352
Degcags Syndrome
Micrognathia, Synophrys, High palate, Hypospadias, Abnormal eyelash morphology, Cryptorchidism, P... OMIM:619488
Aicardi Syndrome
Prominence of the premaxilla, Cataract, Cleft upper lip, Precocious puberty, Cleft palate, Microp... OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe OMIM:615249
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Joubert Syndrome 21
Anophthalmia, Chronic sinusitis, Ptosis OMIM:615636
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Telecanthus, Supernumerary nipple, Lip pit, Hypodontia, Microphthalmia, Ir... ORPHA:1236
Joubert Syndrome 22
Microphthalmia OMIM:615665
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Buphthalmos, Microcornea, Shallow anterior... OMIM:221900
Primary Ciliary Dyskinesia
Male infertility, Chronic sinusitis, Abnormal sperm motility, Female infertility ORPHA:244
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma ORPHA:231736
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Phthisis bulbi, Leukocoria, Developmental cataract, Buphthalmos, Micro... ORPHA:91495
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Teebi-Shaltout Syndrome
Telecanthus, Highly arched eyebrow, High, narrow palate, Cleft palate, Wide mouth, Oligodontia, N... OMIM:272950
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla, Cleft palate, ... ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in infancy, Cataract, Optic nerve hypoplasia, Death in childhood, Peters anomaly, Microphth... OMIM:614643
Loeys-Dietz Syndrome 3
Cataract, Patent ductus arteriosus, Cystocele, Dental malocclusion, Cleft palate, High palate, Ut... OMIM:613795
Focal Dermal Hypoplasia
Corneal opacity, Abnormal dental morphology, Abnormal dental enamel morphology, Ectopia lentis, O... ORPHA:2092
Galloway-Mowat Syndrome 3
Epicanthus, Micrognathia, High palate, Narrow mouth, Microphthalmia, Failure to thrive, Downslant... OMIM:617729
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Heart And Brain Malformation Syndrome
Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower lip vermilion, Microphth... OMIM:616920
Phace Association
Optic nerve hypoplasia, Patent ductus arteriosus, Horner syndrome, Congenital hypothyroidism, Dev... OMIM:606519
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Cataract, Supernumerary nipple, Conical tooth... OMIM:308300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morpholo... ORPHA:261552
Incontinentia Pigmenti
Delayed eruption of teeth, Cataract, Corneal opacity, Abnormal dental enamel morphology, Supernum... ORPHA:464
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Webbed ... ORPHA:261537
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Cleft palate, Cleft upper lip OMIM:611561
Mowat-Wilson Syndrome
Bifid scrotum, Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, We... ORPHA:2152
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia, Cryptophthalmos, Ankyloblepharon OMIM:123570
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Syno... OMIM:610828
Pelvis-Shoulder Dysplasia
Microphthalmia, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Hydrolethalus Syndrome 1
Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Cleft palate, Stillbirth, Adrenal glan... OMIM:236680
Craniofacial Microsomia 1
Anophthalmia, Blepharophimosis, Hypoplasia of the maxilla, Micrognathia, Patent ductus arteriosus... OMIM:164210
Cat Eye Syndrome
Epicanthus, Micrognathia, Patent ductus arteriosus, Cleft palate, Microphthalmia, Downslanted pal... OMIM:115470
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Adams-Oliver Syndrome
Microphthalmia, Failure to thrive, Cataract ORPHA:974
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Unilateral microphthalmos OMIM:615085
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Shallow anterior chamber OMIM:305390
Familial Exudative Vitreoretinopathy
Microphthalmia, Cataract ORPHA:891
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... ORPHA:42775
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Duane-Radial Ray Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Microphthalmia, Iris coloboma, Palpebral fissure nar... OMIM:607323
Acro-Renal-Ocular Syndrome
Epicanthus, Cataract, Optic disc hypoplasia, Microcornea, Microphthalmia, Iris coloboma, Short pa... ORPHA:959
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Cleft palate OMIM:603194
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate OMIM:619053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract OMIM:616538
Papillorenal Syndrome
Microphthalmia, Cataract, Orbital cyst, Lens luxation OMIM:120330
Curry-Jones Syndrome
Microphthalmia, Iris coloboma ORPHA:1553
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Cleft palate OMIM:611134
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia... OMIM:609049
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Corneal opacity, Peters anomaly OMIM:120200
Mycophenolate Mofetil Embryopathy
Micrognathia, Orofacial cleft, Eyelid coloboma, Microphthalmia, Iris coloboma ORPHA:268249
Monosomy 13Q14
Epicanthus, Cataract, Micrognathia, Microphthalmia, Iris coloboma, Ptosis ORPHA:1587
Oculo-Palato-Cerebral Syndrome
Cataract, High, narrow palate, Leukocoria, Cleft palate, Microphthalmia ORPHA:2714
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion OMIM:259730
Fanconi Anemia, Complementation Group R
Microphthalmia, Agenesis of permanent teeth OMIM:617244
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria, Cleft palate OMIM:257910
Curry-Jones Syndrome
Blepharophimosis, Microphthalmia, Iris coloboma, Lip pit OMIM:601707
Cockayne Syndrome Type 3
Cataract, Carious teeth, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, En... ORPHA:90324
Adams-Oliver Syndrome 1
Supernumerary nipple, Cleft upper lip, Cleft palate, Microphthalmia, Imperforate hymen OMIM:100300
Linear Nevus Sebaceus Syndrome
Microphthalmia, Telecanthus, Adenoma sebaceum, Iris coloboma ORPHA:2612
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Corneal crystals, Weight loss,... OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Cataract OMIM:253800
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Small for gestational age, Developmental cataract OMIM:127000
Holoprosencephaly 1
Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus, Median cleft lip and palate OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Opaci... OMIM:253280
Steinfeld Syndrome
Absent gallbladder, Microphthalmia, Iris coloboma, Bifid uvula, Median cleft lip and palate OMIM:184705
Cystic Fibrosis
Male infertility, Failure to thrive, Chronic sinusitis OMIM:219700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
8Q24.3 Microdeletion Syndrome
Microretrognathia, Smooth philtrum, Epicanthus, Ectopic posterior pituitary, Small for gestationa... ORPHA:508488
Isolated Arrhinia
Microphthalmia, Eyelid coloboma, Hypoplasia of the nasal bone ORPHA:1134
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Median cleft lip, Orofacial cleft, Microphthalmia, Iris coloboma ORPHA:3186
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Holoprosencephaly 2
Aplasia of the premaxilla, Adrenal hypoplasia, Malar flattening, Submucous cleft hard palate, Bil... OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ... 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 Sex Life Stage
Brain - developmental dysplasia Ehd1tm1a(EUCOMM)Wtsi HOM Early adult
Brain - developmental dysplasia Ehd1tm1a(EUCOMM)Wtsi HET Early adult
Testes - process of degenerative change Ehd1tm1a(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) Ehd1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ehd1tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ehd1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ehd1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ehd1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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