banner
Genes Phenotypes Help, News, Blog

Gene: Cdk4 MGI:88357

Log in to follow

Gene Summary

Name:
cyclin dependent kinase 4
Synonyms:
p34PSK-J3/cdk4,  Crk3

Order Alleles

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
female infertility Cdk4tm1b(NCOM)Mfgc HOM Early adult 0.00
increased mean corpuscular volume Cdk4tm1b(NCOM)Mfgc HET Early adult 2.34×10-05
edema Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
microphthalmia Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
decreased body length Cdk4tm1b(NCOM)Mfgc HET Early adult 3.33×10-06
preweaning lethality, incomplete penetrance Cdk4tm1b(NCOM)Mfgc HOM   Early adult 0.00
abnormal embryo size Cdk4tm1b(NCOM)Mfgc HOM E15.5 0.00
male infertility Cdk4tm1b(NCOM)Mfgc HOM Early adult 0.00
abnormal cranium morphology Cdk4tm1b(NCOM)Mfgc HET   Early adult 2.69×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 40% (2 of 5)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 40% (2 of 5)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 40% (2 of 5)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 40% (2 of 5)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 40% (2 of 5)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 40% (2 of 5)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 40% (2 of 5)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 40% (2 of 5)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 40% (2 of 5)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 40% (2 of 5)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 40% (2 of 5)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 40% (2 of 5)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 40% (2 of 5)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 40% (2 of 5)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 40% (2 of 5)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 40% (2 of 5)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 40% (2 of 5)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 40% (2 of 5)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 40% (2 of 5)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 40% (2 of 5)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 40% (2 of 5)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

44 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

10 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

12 Images

View images
Gross Pathology and Tissue Collection

Images

12 Images

View images
Histopathology

Images

12 Images

View images
Download thumbnail Download
Immunophenotyping

Panel A FCS file(s)

4 Images

View images
Eye Morphology

Images Slit Lamp

3 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images
Eye Morphology

Images Ophthalmoscopy

4 Images

View images
Download thumbnail Download
Immunophenotyping

Panel B FCS file(s)

3 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images

Human diseases caused by Cdk4 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.

The table below shows human diseases associated to Cdk4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Familial Melanoma
Neoplasm of the pancreas ORPHA:618
Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609048

The table below shows human diseases predicted to be associated to Cdk4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 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
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
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
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Non-obstructive azoospermia, Decreased testicular size, Globozoospermia... ORPHA:399808
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... OMIM:308700
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... OMIM:308750
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Broad-based gait, Decreased circulating follicle stimulating hormone concentrati... OMIM:619761
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Lipedema
Edema OMIM:614103
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Ataxia, Gait disturbance, Ketonuria ORPHA:1399
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Deleted in azoospermia
Azoospermia OMIM:400003
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
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
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Mody
Abnormality of the kidney, Neonatal hypoglycemia, Hepatocellular adenoma, Large for gestational a... ORPHA:552
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Ketonuria OMIM:618857
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... ORPHA:2298
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... ORPHA:168563
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Hyperglycemia, Type II diabetes m... OMIM:604367
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Biliary tract a... OMIM:137920
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Agitation, Hyperinsulinemia, Hepatomegaly, Hypo... ORPHA:263455
Bardet-Biedl Syndrome 9
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia, Renal insufficiency, Irregular m... OMIM:615986
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased circulating gonadot... OMIM:614841
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Focal segmental glomerulosclerosis, Hy... ORPHA:347
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Type 1 Diabetes Mellitus
Polydipsia, Polyuria, Polyphagia, Hyperglycemia, Diabetes mellitus OMIM:222100
Autism, Susceptibility To, 3
Restrictive behavior, Inflexible adherence to routines, Motor stereotypy, Increased serum seroton... OMIM:608049
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Cystinosis
Polydipsia, Delayed puberty, Nephropathy, Portal hypertension, Nephrogenic diabetes insipidus, Hy... ORPHA:213
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Small for gestational a... OMIM:262190
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:607080
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Hyperglycemia, Primary amenorrhea, Impaired vibratory se... OMIM:619737
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ... ORPHA:251510
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Panhypophysitis
Polydipsia, Impotence, Abnormal posterior pituitary morphogenesis, Decreased circulating cortisol... ORPHA:95513
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Increased female libido, Breast hypopl... ORPHA:432
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Azoospermia, Infertility, Bifid scrotum, Male pseudohe... OMIM:312300
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Pancreatic hypoplasia, A... ORPHA:99885
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic... ORPHA:2704
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Cystinosis, Nephropathic
Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Dysphagia, Spleno... OMIM:219800
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Panhypopituitarism, O... ORPHA:91351
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Oral-pharyngeal dysphagia, Myoglobinuria, Gait disturbance, Premature thelarc... OMIM:616878
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity, Macroorchidism OMIM:300238
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Ketonuria ORPHA:2089
Renal Glucosuria
Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria OMIM:233100
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy,... ORPHA:465508
Donohue Syndrome
Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Long peni... OMIM:246200
Wolfram Syndrome
Polydipsia, Delayed puberty, Male hypogonadism, Diabetes insipidus, Recurrent urinary tract infec... ORPHA:3463
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalci... ORPHA:2088
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Acute kidney injury, Glomerulopathy, Abnormality of endocrine pancreas physiology, Ab... ORPHA:93111
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Edema OMIM:616570
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol... ORPHA:8
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... OMIM:400044
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gordon Holmes Syndrome
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... OMIM:212840
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, ... OMIM:613404
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Hyperglycemia, Ataxia, Weight loss, Hypoglycemia, Oral aversio... ORPHA:134
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Meningioma
Urinary incontinence, Impotence, Decreased circulating cortisol level, Ataxia, Abnormal hypothala... ORPHA:2495
Gombo Syndrome
Microphthalmia OMIM:233270
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Young Syndrome
Azoospermia OMIM:279000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Decreased libido, Polyphagia, Repetitive compuls... ORPHA:33543
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Hepatic fibrosis, Olig... ORPHA:280356
Central Diabetes Insipidus
Polydipsia, Anorexia, Diabetes insipidus, Failure to thrive, Nocturia, Weight loss ORPHA:178029
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,... ORPHA:2795
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypopl... ORPHA:3157
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Hypercal... OMIM:227810
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism ORPHA:85286
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, 3-hydroxyisovaleric aciduria, Hypoglycemia, Elevated ... OMIM:210200
Glutaric Acidemia Type 3
Failure to thrive, Glutaric aciduria, Impulsivity, Ketonuria ORPHA:35706
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... ORPHA:3085
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Cryptorchidism ORPHA:3055
Rabson-Mendenhall Syndrome
Polydipsia, Clitoral hypertrophy, Increased circulating androgen concentration, Increased serum t... ORPHA:769
East Syndrome
Polydipsia, Renal salt wasting, Difficulty walking, Inability to walk, Enuresis, Increased circul... ORPHA:199343
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Glutaric Acidemia I
Glutaric aciduria, Hepatomegaly, Failure to thrive, Hypoglycemia, Choreoathetosis, Ketonuria OMIM:231670
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Megalencephaly
Truncal obesity, Macroorchidism, Long penis ORPHA:2477
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Ovarian cyst, Abnormal endocrine physiology, Increased circu... ORPHA:562
Familial Glucocorticoid Deficiency
Anorexia, Renal salt wasting, Hypoglycemic seizures, Azoospermia, Ketotic hypoglycemia, Recurrent... ORPHA:361
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm of the liver, Abnormal prostate morphol... ORPHA:2126
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepa... OMIM:261680
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney... OMIM:619468
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp... OMIM:613388
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalciuri... OMIM:239200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Gait disturbance, Glycosuria, Hyperphosphaturia, Failure to thrive, Ataxia, Protein... ORPHA:436271
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
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
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Decreased testicular size, Hypogonadism, Primary amenorrhea, Micropenis OMIM:614962
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, Pyelonephr... OMIM:314300
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Renal agenesis, Dysmenorrhea,... ORPHA:3411
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Frasier Syndrome
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Ovarian gonad... OMIM:136680
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, 3-Methylglutaric a... ORPHA:20
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Protein... OMIM:616026
Bardet-Biedl Syndrome 5
Obesity, External genital hypoplasia, Micropenis, Hypogonadism OMIM:615983
Whipple Disease
Polydipsia, Anorexia, Hepatomegaly, Erectile dysfunction, Cachexia, Hypothyroidism, Ataxia, Splen... ORPHA:3452
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:185000
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Galactokinase Deficiency
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, ... ORPHA:79237
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Truncal ataxia, Increased hepatocellular lipid droplets, Glycosuria, Hyperphosphatu... OMIM:220110
Erdheim-Chester Disease
Polydipsia, Diabetes insipidus, Dysuria, Retroperitoneal fibrosis, Hydronephrosis, Ataxia, Weight... ORPHA:35687
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Difficulty walking, Myoglobinuria, Waddling gait, Hypo... OMIM:251900
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Hype... ORPHA:99880
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Increased level of hippuric acid in urine, Hepatomegaly, Organic aciduria, 3-M... OMIM:246450
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Atkin-Flaitz Syndrome
Obesity, Macroorchidism ORPHA:1193
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Familial Renal Glucosuria
Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction ORPHA:69076
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Hepa... ORPHA:525731
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Hepatomegaly, Proximal tubulopathy, Failure to thrive, Ataxia, Type I diabetes mellitus OMIM:560000
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Ataxia, Dysphagia, Hypoglycemia, Compensated hypothyroidism, Ketonuria ORPHA:480864
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries OMIM:184700
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Dicarboxylic aciduria, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Hepati... OMIM:605911
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, D... OMIM:610628
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketonuria, Elevated urine acetoacetic acid level, Jaundice, Elevated urine suberic acid level, El... OMIM:615751
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
49,Xyyyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Abnormality o... ORPHA:99330
Glucose/Galactose Malabsorption
Glycosuria, Failure to thrive, Abnormal oral glucose tolerance OMIM:606824
Lead Poisoning
Anorexia, Delayed puberty, Somatic sensory dysfunction, Decreased male libido, Decreased circulat... ORPHA:330015
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced circulating... ORPHA:2235
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Renal Hypoplasia
Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia, Ketonuria OMIM:615453
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyp... OMIM:613677
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Hepatomegaly, Hypoketotic hypoglycemia, Renal tubular acidosis, Hepatic st... OMIM:255120
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss, Diabetes insipidus ORPHA:30925
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Jaundice, Hepatomegaly, Gait ... ORPHA:79239
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Lacticaciduria, Neonatal death, Ataxia, Ketonuria OMIM:619167
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Abnormal circulating renin, Athetosis, Nephrolithiasis, Adrenal hyperplasia, Hyperald... ORPHA:369929
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
46,Xx Sex Reversal 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Renal salt wasting, Polyuria, Hypocalciuria, Renal potassium wasting, Dysdiadochokine... OMIM:612780
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Dicarboxylic aciduria, Ethylmalonic aciduria, Increased urine alpha-ketoglutarate concentration, ... OMIM:619355
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Male infertility, Hepatomegaly, Primary testicular failure, ... ORPHA:85450
Nanophthalmos
Microphthalmia ORPHA:35612
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, G... OMIM:620089
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Scorpion Envenomation
Acute kidney injury, Paresthesia, Acute pancreatitis, Glycosuria, Hyperglycemia, Priapism, Restle... ORPHA:466677
Nanophthalmos 4
Microphthalmia OMIM:615972
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Glucose intolerance, Azoospermia, Hepatocellular carcinoma, Impotence, S... OMIM:235200
Cortisone Reductase Deficiency 1
Precocious puberty, Oligomenorrhea, Infertility OMIM:604931
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Gitelman Syndrome
Polydipsia, Polyuria, Delayed puberty, Hypocalciuria, Renal potassium wasting, Enuresis, Increase... OMIM:263800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Decreased fertility, Hyperinsulinemia, Renal neop... ORPHA:79474
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hypera... ORPHA:251274
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias OMIM:175700
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... OMIM:134600
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Methylmalonic aciduria, Ketonuria OMIM:251120
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Juvenile Nephropathic Cystinosis
Polydipsia, Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Micr... ORPHA:411634
Nephronophthisis 9
Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Premature ovarian insufficiency, Aminoaciduria ORPHA:2278
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Neonatal hypoglycemia, Maturity-onset diabete... ORPHA:324575
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Abnormality of circulating cortisol level, Failure... ORPHA:320
Pearson Syndrome
Ataxia, Dysphagia, Splenomegaly, Pancreatic fibrosis, Hepatic steatosis, Adrenal insufficiency, L... ORPHA:699
Seckel Syndrome 10
Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Glycosuria, Elevated circula... OMIM:617253
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Invasive Mole
Menometrorrhagia ORPHA:99925
Partington Syndrome
Macroorchidism ORPHA:94083
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria OMIM:615605
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria OMIM:618913
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Failure to thrive, Hypoglycemia, Methylmalonic aciduria, Ketonuria OMIM:251110
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroi... OMIM:617994
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hepatomegaly, Irregular ... OMIM:203800
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:612702
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Hypospadias... ORPHA:1772
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipid... ORPHA:223
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Infertility, Oligozoospermi... ORPHA:786
Morm Syndrome
Abnormality of the kidney, Truncal obesity, Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Senior-Boichis Syndrome
Polydipsia, Tubular luminal dilatation, Cholestasis, Abnormal renal insterstitial morphology, Sta... ORPHA:84081
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma... ORPHA:99429
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu... ORPHA:3464
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Se... ORPHA:403
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Renal tubular dysfu... OMIM:606528
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Atax... ORPHA:1227
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Diabetes insipidus, Failure to thrive, Megacystis OMIM:304800
Infantile Nephropathic Cystinosis
Polydipsia, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Glycosuria, Hype... ORPHA:411629
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Organic aciduria, Failure to thrive, Hypoglycemia, Ketonuria OMIM:210210
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Nephrogenic diabetes insipidus, Failure to thrive, Megacystis OMIM:125800
Gitelman Syndrome
Polydipsia, Delayed puberty, Urinary incontinence, Neoplasm of the pancreas, Renal potassium wast... ORPHA:358
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Aminoaciduria, Ketonuria OMIM:614520
Cataract 47
Glycosuria OMIM:612018
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Aggressi... OMIM:239500
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Dysphagia, Abnormal thymus morp... ORPHA:589
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hepatomegaly, Elevated urine 2-methylcitric acid le... OMIM:251100
Galactosemia I
Premature ovarian insufficiency, Cirrhosis, Hepatomegaly, Galactosuria, Hypergonadotropic hypogon... OMIM:230400
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Chronic kid... OMIM:613845
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Hypomagnesemia 3, Renal
Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri... OMIM:248250
Coffin-Siris Syndrome 8
Hyperactivity, Failure to thrive, Self-injurious behavior, Cryptorchidism, Aggressive behavior OMIM:618362
Congenital Generalized Lipodystrophy
Amenorrhea, Hyperinsulinemia, Clitoral hypertrophy, Precocious puberty in females, Cirrhosis, Hep... ORPHA:528
Clark-Baraitser syndrome
Tall stature, Macroorchidism, Obesity OMIM:300602
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia, Diabetes insipidus ORPHA:1445
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Hyperactivity, Gait ataxia, Decreased testicular size, Hypogonadism... OMIM:300354
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteron... ORPHA:231580
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a... ORPHA:247768
48,Xxyy Syndrome
Hypoplasia of penis, Azoospermia, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Bardet-Biedl Syndrome 4
External genital hypoplasia, Obesity, Cryptorchidism, Hypogonadism OMIM:615982
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Obesity And Hypopigmentation
Obesity, Hepatic steatosis, Overgrowth OMIM:620195
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Elevated urinary 3-hydroxybutyric acid, Ketonuria OMIM:245050
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Micropenis, Truncal obesity OMIM:610156
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hepatomegaly, Ketonuria OMIM:619053
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Failure to thrive, Ataxia, Hypoglycemia, Met... ORPHA:79282
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis, Nephroblastoma... ORPHA:2849
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Toxic Epidermal Necrolysis
Polydipsia, Pancreatitis, Abnormal vagina morphology, Dysuria, Dysphagia, Weight loss, Renal insu... ORPHA:537
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Microvesicular hepatic steatosis, Truncal ataxia, Failure to thrive, Hyperglycemia, ... OMIM:220111
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphobilinogen OMIM:176200
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Failure to thrive, Paresthesia OMIM:612740
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Failure to thrive, Cryptorchidism, Self-mutilation, Aggressive behavior OMIM:604317
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperp... ORPHA:276575
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Renal magnesium wasting, Self... OMIM:618314
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the ... ORPHA:95496
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Hyperactivity, Precocious puberty, Motor stereotyp... ORPHA:3306
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia OMIM:215470
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... ORPHA:739
Short Syndrome
Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Small for gestational age, ... OMIM:269880
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Proximal Renal Tubular Acidosis
Polydipsia, Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hyperc... ORPHA:47159
Oligomeganephronia
Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a... ORPHA:2260
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Wilson Disease
Cirrhosis, Increased urinary copper concentration, Hypoparathyroidism, Portal fibrosis, Jaundice,... OMIM:277900
Insulinoma
Hyperinsulinemia, Abnormality of pain sensation, Neoplasm of the adrenal gland, Increased body we... ORPHA:97279
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria, Weight loss, Diabetes insipidus ORPHA:95626
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Helix Syndrome
Polydipsia, Polyuria, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hyperparathyroidism OMIM:617671
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia ORPHA:2169
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Hyposthenuria, Tubular basem... OMIM:256100
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria,... OMIM:602522
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Reni Syndrome
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syndrome, Hypothy... OMIM:617575
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Insulin resist... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Hartnup Disorder
Hyperactivity, Episodic ataxia, Attention deficit hyperactivity disorder, Elevated urinary indole... OMIM:234500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Cerebral Creatine Deficiency Syndrome 3
Failure to thrive, Organic aciduria OMIM:612718
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Hyperglycemia, Gait disturbance OMIM:604484
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Fanconi Anemia, Complementation Group A
Male infertility, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Prolon... OMIM:227650
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the... ORPHA:110
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Attention deficit hyperactivity disorder, Hype... ORPHA:35878
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Arima Syndrome
Polydipsia, Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fi... OMIM:243910
Interstitial Cystitis
Abnormal labia morphology, Abnormal vagina morphology, Abnormality of the bladder, Pollakisuria, ... ORPHA:37202
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Distal Renal Tubular Acidosis
Polydipsia, Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Lesch-Nyhan Syndrome
Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious behavior, Choreoathetosis, Hyperuric... OMIM:300322
X-Linked Intellectual Disability, Snyder Type
Ectopic kidney, Hypospadias, Inability to walk, Abnormality of the Leydig cells, Unsteady gait, C... ORPHA:3063
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... OMIM:601678
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassi... OMIM:241200
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Clitoral hypertrophy, Hepatomegaly, Fasting hypoglycemia, Long... ORPHA:508
Wolfram Syndrome 1
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Ataxia, Dysp... OMIM:222300
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Type II diabetes mellitus, Lab... OMIM:151660
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Renal insufficien... OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Hypothyroidism, Renal d... OMIM:618183
Familial Cold Urticaria
Polydipsia, Dysesthesia ORPHA:47045
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Nephronophthisis 11
Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Hepatic fibrosi... OMIM:613550
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Cirrhosis, Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Glucose intolerance,... OMIM:616539
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Primary amenorrhea, Hyperinsulinemic hypoglycemia, Diabetes m... OMIM:616033
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:91354
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Hypogonadism ORPHA:363741
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ... ORPHA:209905
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypog... OMIM:244200
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Transient aminoaciduria, Proximal tubulopathy,... OMIM:229600
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Nephronophthisis 4
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage... OMIM:606966
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Urocanic aciduria, Gait ataxia, Ataxia, Dysmetria, Aggressive b... OMIM:276880
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ataxia, Aminoaciduria, Cryptorchidism OMIM:249270
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe... OMIM:618160
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe... ORPHA:293987
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, ... ORPHA:435651
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Large for gestational age, Diffuse pancreatic isl... ORPHA:276556
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Jaundice, Hemosiderinuria, Impotence, Glycosuria, Hemoglobinuria, Dysphagia,... ORPHA:447
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior... ORPHA:228402
Fanconi Anemia, Complementation Group E
Ectopic kidney, Duplicated collecting system, Prolonged G2 phase of cell cycle, Hypergonadotropic... OMIM:600901
Mehmo Syndrome
External genital hypoplasia, Hypoplasia of penis, Obesity, Cryptorchidism, Micropenis ORPHA:85282
Myotonic Dystrophy 2
Oligozoospermia, Insulin insensitivity, Elevated circulating follicle stimulating hormone level, ... OMIM:602668
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepati... ORPHA:731
Hemochromatosis, Type 3
Amenorrhea, Cirrhosis, Hypogonadotropic hypogonadism, Impotence OMIM:604250
Stimmler Syndrome
Aminoaciduria, Ataxia, Type II diabetes mellitus ORPHA:3199
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Hyperactivity, Neurogenic bladder, Impotence, Gait disturbance... ORPHA:43
Biemond Syndrome Type 2
Obesity, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism ORPHA:141333
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Failure to ... OMIM:613090
Senior-Loken Syndrome 3
Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome... OMIM:606995
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Truncal obesity, Macroorchidism ORPHA:284180
Fanconi Anemia, Complementation Group D2
Annular pancreas, Ectopic kidney, Duplicated collecting system, Small for gestational age, Pelvic... OMIM:227646
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... OMIM:146255
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Hyperactivity, Chorea, Compulsive behaviors, Unsteady gait, Self-i... ORPHA:485350
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin le... OMIM:300869
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... ORPHA:64
Prader-Willi Syndrome
Delayed puberty, Small scrotum, Adrenal insufficiency, Decreased response to growth hormone stimu... OMIM:176270
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormal peritoneum morphology,... ORPHA:180229
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome OMIM:268315
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Gait imbalance, Truncal obesity, Abdominal obesity, Abnormality of the... OMIM:209900
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Bardet-Biedl Syndrome 8
Obesity, Hypospadias, Hypogonadism OMIM:615985
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Secondary amenorrhea, Oligomenorrhea, D... ORPHA:79083
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification ORPHA:314473
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612562
Mmep Syndrome
Microphthalmia ORPHA:3434
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Hyperacti... OMIM:607364
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Abnormality of ... ORPHA:543
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Lujan-Fryns Syndrome
Disproportionate tall stature, Macroorchidism ORPHA:776
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Acholic stools, Pancreatic hypoplasia, Cholestasis, Hyperglyce... OMIM:615710
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Abnormal testis morphology, Hypogonadism ORPHA:2233
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased... ORPHA:435660
48,Xxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Obesity, Type II diabet... ORPHA:96263
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Gray Platelet Syndrome
Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Decreased testicular size, Eunuchoid habitus, Obesity, Hypogonadism, Small s... ORPHA:2234
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Hyperactivity, Congenital hypothyroidism, Diabetes mellitus, Obesity, Cryptorchidism OMIM:614613
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Failure to thrive, Hypogonadism, Attention deficit hyperactivity disorder, Insulin... ORPHA:73272
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Tip-toe gait, Hepatomegaly, Recurrent hand flapping, Compulsi... ORPHA:3008
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Biliary atresia, Pancreatic hypoplasia, Glycosuria, Failure to thrive, Hype... OMIM:600001
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Decreased testicular size, A... OMIM:616113
Senior-Loken Syndrome 1
Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating... OMIM:266900
Hepatic Veno-Occlusive Disease
Increased body weight, Jaundice, Hepatomegaly ORPHA:890
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t... ORPHA:3109
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Polyphagia, Obesity, Type II diabetes mellitus ORPHA:71529
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Addictive alcohol use, Hyperglycemia, Hypothyroidism ORPHA:90065
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Decreased serum leptin, Acute pa... OMIM:608594
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Stage 5 chronic kidney disease, Glucose intolerance, Insulin-res... OMIM:608612
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Waddling gait, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Diabet... OMIM:614813
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia OMIM:616171
Fanconi Anemia, Complementation Group C
Ectopic kidney, Duplicated collecting system, Prolonged G2 phase of cell cycle, Hypergonadotropic... OMIM:227645
Duplication Of Urethra
Clitoral hypertrophy, Urinary incontinence, Bifid scrotum, Bladder duplication, Septate vagina, R... ORPHA:237
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion OMIM:613885
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Lipodystrophy, Familial Partial, Type 7
Polyuria, Distal sensory impairment, Dysdiadochokinesis, Impaired glucose tolerance, Gait ataxia,... OMIM:606721
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618187
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hyperactivity, Gait ataxia, Ataxia, Insulin resistance... ORPHA:363400
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Clitoral hypertrophy, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Decreased s... OMIM:269700
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Aminoaciduria, Hypogonadism OMIM:273400
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea, Re... OMIM:191830
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Hypoglycemia, Diabet... OMIM:609069
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Obesity, Male hypogonadism, Macroorchidism OMIM:300055
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Gait disturbance, Enuresis OMIM:616260
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... ORPHA:300298
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia, Ascites ORPHA:858
Wagr Syndrome
Ambiguous genitalia, Obesity, Cryptorchidism, Displacement of the urethral meatus ORPHA:893
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait, Aggressive behavior ORPHA:457260
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Hepatomegaly, Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Failure to t... ORPHA:247598
Gapo Syndrome
Oligozoospermia, Nephrolithiasis, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Dysphagia OMIM:255100
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1466
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Congenital Myopathy 9A
Obesity, Cryptorchidism OMIM:618822
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Bardet-Biedl Syndrome 2
Obesity, External genital hypoplasia, Hypogonadism OMIM:615981
49,Xxxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96264
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Impaired distal proprioception, Impaired d... OMIM:157640
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Decreased body weight, Precocious puberty, Aggressive behavior OMIM:300958
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Periportal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thriv... OMIM:124000
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Laurence-Moon Syndrome
Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Congenital hepatic fibrosis, C... ORPHA:2377
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Organic aciduria, Inability to walk OMIM:617184
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Neonatal hypoglycemia, Hypospadias, Hyperactivity, Gait disturbance, C... ORPHA:457485
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Failure to thrive, Splenomegaly, Aminoaciduria OMIM:230350
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Pituitary Gigantism
Premature pubarche, Increased circulating insulin-like growth factor 1 concentration, Pituitary g... ORPHA:99725
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Hyperactivity, Broad-based gait, Cachexia, Decreased testicular size, Obesit... ORPHA:85293
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy OMIM:613987
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Hep... ORPHA:79273
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Proximal tubulopathy, Gait ataxia, Failure to thrive, Weight loss, Aminoaciduria OMIM:612075
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Hyperactivity, Medullary neph... ORPHA:363528
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Polyuria, Medullary nephrocalcinosis, Increased circulating renin level OMIM:300971
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Laurence-Moon Syndrome
Small scrotum, Obesity, Micropenis OMIM:245800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Hyperactivity, Shawl scrotum, Cryptorchidism, Micropenis, Pine... OMIM:617516
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity OMIM:603233
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Failure to thrive, Proximal renal tubular acidosis, Cryptorchidism, Aggressive beh... OMIM:615824
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Leopard Syndrome 1
Delayed puberty, Unilateral renal agenesis, Hypospadias, Hypoplasia of the ovary, Delayed menarch... OMIM:151100
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Malakoplakia
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Orchitis, Proteinuria,... ORPHA:556
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Nephrocalcinosis OMIM:620152
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Renal tubular acidosis, My... ORPHA:79240
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Lassa Fever
Oliguria, Menometrorrhagia, Jaundice, Dysphagia ORPHA:99824
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria, Neu... ORPHA:79473
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live... ORPHA:69663
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Dysdiadochokinesis, Ornithinuria, Hyperlysinuria, Homocitrullinuria, ... OMIM:238700
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia, Hepatomegaly, Organic aciduria OMIM:614741
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Aminoaciduria ORPHA:79238
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Ataxia, Cryptorchidism... OMIM:300661
Fragile X Syndrome
Macroorchidism ORPHA:908
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Cri-Du-Chat Syndrome
Abnormality of the kidney, Difficulty walking, Hypospadias, Hyperactivity, Oppositional defiant d... OMIM:123450
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Pituitary Adenoma 1, Multiple Types
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... OMIM:102200
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:2117
Temple Syndrome
Cryptorchidism, Decreased testicular size, Precocious puberty, Obesity, Overweight, Truncal obesi... OMIM:616222
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Renal hypoplasia/aplasia, Ectopic kidney, Biliary cir... ORPHA:881
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin resistance, P... ORPHA:79086
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Fasting hypogl... ORPHA:264580
Renal Nutcracker Syndrome
Hematuria, Infertility, Renal artery stenosis, Dyspareunia, Vulval varicose vein, Microscopic hem... ORPHA:71273
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Recurrent urinary tract infection... ORPHA:125
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Microphallus, Gait ataxia, Motor stereotypy, Small scrotum, Cryptorchidism, Microp... OMIM:300486
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Positive Romberg sign, Dysdiadochokinesis, Organic aciduria, Gait disturbance, Nonprogressive cer... OMIM:301310
Isolated Sedoheptulokinase Deficiency
Abnormal renal tubule morphology, Cholestatic liver disease, Cholestasis, Portal hypertension, He... ORPHA:440713
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Organic aciduria, Dysphagia, Aggressive behavior OMIM:614707
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Large for gestational age, Tall stature, Overgrowth, Unilateral cryptorchidism ORPHA:137634
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, C... ORPHA:251066
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia, Organic aciduria ORPHA:6
Peritoneal Cystic Mesothelioma
Metrorrhagia, Menorrhagia, Dyspareunia, Peritonitis ORPHA:168816
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Hyperactivity, Shuffling gait, Decreased body weight, Decreased testicular size, ... OMIM:300534
Necrotizing Enterocolitis
Peritonitis, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Bardet-Biedl Syndrome 6
Obesity, External genital hypoplasia, Hypospadias, Vaginal atresia OMIM:605231
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism OMIM:615633
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, female, Fused labia minora ORPHA:2975
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Hyperactivity, Gait disturbance, Primary adrenal insuffici... ORPHA:139396
Lig4 Syndrome
Hypothyroidism, Type II diabetes mellitus, Amenorrhea, Cryptorchidism, Micropenis OMIM:606593
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Amenorrhea, Reduced circulating prolactin concentr... ORPHA:91355
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
13Q12.3 Microdeletion Syndrome
Hyperactivity, Impaired pain sensation, Failure to thrive, Obesity, Cryptorchidism, Self-mutilation ORPHA:412035
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Cryptorchidism ORPHA:589905
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Broad-based gait, Hyperactivity, Inability to wa... ORPHA:72
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Stereotypical hand wringing, Precocious pu... ORPHA:163681
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Obesity, Hypergo... OMIM:614963
Bloom Syndrome
Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in females, Small for... OMIM:210900
Bardet-Biedl Syndrome 3
Obesity, External genital hypoplasia OMIM:600151
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Nephrolithiasis ORPHA:722
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d... OMIM:214110
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Impulsivity, Hyperglycemia, Hypoglycemia OMIM:620423
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Falls, Elevated urinary quinolinic acid level, Lacticaciduria OMIM:618811
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Increased body weight, Small for gestational age OMIM:274300
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Glomerular ... OMIM:276700
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Dyspareunia, Renal insufficiency, Dysphagia ORPHA:220393
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Organic aciduria ORPHA:35
Pierpont Syndrome
Microphthalmia ORPHA:487825
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Neonatal death, Hypoglycemia, Methylmalonic aciduria, Lacticaciduria OMIM:245400
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Citrullinemia Type Ii
Hepatomegaly, Pancreatitis, Decreased body mass index, Hyperactivity, Hepatocellular carcinoma, D... ORPHA:247585
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Failure to thrive, Macroorchidism, Hypospadias OMIM:618874
Primary Ciliary Dyskinesia
Male infertility, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Decreased testicular size, Renal hypoplasia, Micropenis, Abdominal obesi... OMIM:619321
D-Glyceric Aciduria
Tongue thrusting, Failure to thrive, Hypoglycemia, Micropenis, Aminoaciduria OMIM:220120
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Impaired glucose tolerance, Hyperglycemia, Insulin-resistant diab... OMIM:248370
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Tall stature, Disproportionate tall stature, Macroorchidism OMIM:309520
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance OMIM:617885
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Adrenal hypopla... OMIM:214100
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Vesicoureteral reflux, Hypoth... ORPHA:444077
Pierpont Syndrome
Microphthalmia OMIM:602342
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Inability to walk, Polycystic kidney dysplasia, Hepatic periport... ORPHA:26791
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Diabetic ketoacidosis, Hepatic... OMIM:615238
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... ORPHA:168569
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Failure to thrive, Goi... ORPHA:90674
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:603194
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Aminoaciduria ORPHA:833
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Decreased ur... ORPHA:79102
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples,... ORPHA:79328
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Glutamate-Cysteine Ligase Deficiency
Ataxia, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele ORPHA:228390
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal death, Lacticaciduria OMIM:619003
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Jaundice, Pancreatitis, Precocious puberty, Metrorrha... ORPHA:370348
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Aminoaciduria, Loss of ability to walk in early childhood OMIM:609560
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Aggressive behavior, Organic aciduria, Obesity, Ataxia, Pica OMIM:620191
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Dysphagia, Lacticaciduria OMIM:618247
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Failure to thrive, Ataxia, Aminoaciduria, Dysmetria OMIM:250620
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Failure to thrive, Absent gallbladder, Horseshoe kidney OMIM:617140
Cole Disease
Hyperglycemia OMIM:615522
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Gracile Syndrome
Cholestasis, Aminoaciduria OMIM:603358
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Retrograde ejaculation, Elevated urinary dopamine level, Nocturia, Insulin resi... ORPHA:230
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly, Penile freckling, Hyd... OMIM:605309
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated ur... OMIM:171400
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Renal tubular acidosis, Organic aciduria, Failure to thrive, Nonprogressive cerebel... ORPHA:431361
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:290
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary urate, Incre... OMIM:252150
Carpenter Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Abnormal reproductive system morphology, Po... ORPHA:65759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Central hy... ORPHA:798
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Small for gestational age, Renal tubul... OMIM:208085
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Acute Monoblastic/Monocytic Leukemia
Anorexia, Oliguria, Central hypothyroidism, Weight loss ORPHA:514
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Temtamy Syndrome
Microphthalmia ORPHA:1777
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Intrauterine growth retardation, Aplasia/Hypoplasi... ORPHA:3378
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... OMIM:618278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Failure to thrive, Aminoaciduria, La... OMIM:604273
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Hepatocellular carcinoma, Dysur... OMIM:176000
Leigh Syndrome
3-Methylglutaconic aciduria, Generalized aminoaciduria, Renal tubular acidosis, Lacticaciduria, C... ORPHA:506
Steinert Myotonic Dystrophy
Impotence, Aggressive behavior, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:273
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Hyperglycemia, Type II diabetes mellitus, Truncal obesity OMIM:615812
Lipoyltransferase 1 Deficiency
Hyperglutaminuria, Alaninuria, Lacticaciduria OMIM:616299
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis, Obesity, Hypogonadism OMIM:616629
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria ORPHA:79246
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Failure to ... ORPHA:905
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hyperc... ORPHA:89938
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Lacticaciduria OMIM:619063
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Recurrent urinary tract infections, Decreased urinary urate, Elev... OMIM:613179
Tetrasomy 9P
Inappropriate behavior, Jaundice, Biliary atresia, Hyperactivity, Recurrent urinary tract infecti... ORPHA:3310
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia OMIM:610756
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, My... ORPHA:71212
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Decreased urinary urate, Ataxia ORPHA:760
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas... ORPHA:189427
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Genetic Recurrent Myoglobinuria
Acute kidney injury, Exercise-induced myoglobinuria, Difficulty walking, Recurrent myoglobinuria,... ORPHA:99845
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Holocarboxylase Synthetase Deficiency
Anorexia, Organic aciduria, Ataxia, Weight loss ORPHA:79242
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intrauterine growth retardation OMIM:611134
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Distal Deletion 12Q
Obsessive-compulsive trait, Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidne... ORPHA:96149
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Monosomy 18P
Microphthalmia, Lymphedema ORPHA:1598
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Failure to thrive, Hyperinsulinemic hy... OMIM:602579
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Klippel-Trénaunay Syndrome
Hepatomegaly, Hematuria, Abnormality of the menstrual cycle ORPHA:90308
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Elevated circulating growth hormone concentration, Decrease... OMIM:608747
Wolfram Syndrome 2
Diabetes insipidus, Neurogenic bladder, Oligomenorrhea, Primary amenorrhea, Diabetes mellitus OMIM:604928
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Oliguria ORPHA:159
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Prolon... ORPHA:99832
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Azoospermia, Pancreatic hypoplasia, Hyperg... OMIM:602782
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Methylmalonic aciduria, Ataxia, Aminoaciduria ORPHA:1933
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Inability to walk, Loss of ability to walk in early childhood, Athetosis, Failure to thrive, Smal... OMIM:612073
Trisomy 20P
Cryptorchidism, Macroorchidism, Hypospadias ORPHA:261318
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria, Ataxia, Hyperu... ORPHA:411543
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Pancreatitis, Weight loss, Oliguria, Renal insufficiency ORPHA:188
Pearson Marrow-Pancreas Syndrome
Anorexia, Hepatomegaly, Small for gestational age, Hypercalciuria, Failure to thrive, 3-Methylglu... OMIM:557000
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Uric acid nephrolithias... ORPHA:411536
Gracile Bone Dysplasia
Microphthalmia, Ascites, Aniridia OMIM:602361
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Oligohydramnios, Increased nuchal translucency OMIM:618494
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Microphthalmia OMIM:300863
Xeroderma Pigmentosum
Decreased testicular size, Failure to thrive, Ataxia, Hypogonadism, Cryptorchidism, Aminoaciduria ORPHA:910
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Abnormal t... ORPHA:84
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Microphthalmia, Umbilical hernia ORPHA:2505
Sialidosis Type 1
Increased urinary O-linked sialopeptides, Gait disturbance, Urinary excretion of sialylated oligo... ORPHA:812
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypoplastic labia minora,... ORPHA:398079
Multiple Mitochondrial Dysfunctions Syndrome 1
Hyperglycinuria, Alpha-aminoadipic aciduria, Failure to thrive, Increased urine alpha-ketoglutara... OMIM:605711
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Aminoaciduria ORPHA:664
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Argininemia
Anorexia, Spastic gait, Hepatomegaly, Portal fibrosis, Oroticaciduria, Hyperactivity, Cholestasis... OMIM:207800
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine l... OMIM:252160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Obesity, Cholesterol gall... ORPHA:209902
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Nephrocalcinosis, Chronic... OMIM:300555
Dend Syndrome
Hyperglycemia ORPHA:79134
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f... OMIM:153400
Aceruloplasminemia
Limb ataxia, Akinesia, Abnormal pancreas morphology, Chorea, Gait ataxia, Elevated hepatic iron c... ORPHA:48818
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Hyperactivity, Pelvic kidney, Anterior... ORPHA:464306
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur... ORPHA:653
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur... ORPHA:79233
Microscopic Polyangiitis
Glomerulopathy, Hematuria, Pancreatitis, Peritonitis, Oliguria, Renal insufficiency, Paresthesia ORPHA:727
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:424
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Glutamate Formiminotransferase Deficiency
Elevated urinary formiminoglutamic acid level, Aminoaciduria OMIM:229100
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Agitation, Hematuria, Decreased glomerular filtration rate, Acute tubulointe... ORPHA:340
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Hypospadias, Failure to thrive, Ataxia, Splenomegaly, 3-hydroxydicarboxylic aciduri... OMIM:252010
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Decreased response to growth hormone stimulation test, Argininu... ORPHA:470
Castleman Disease
Thrombocytopenia, Anemia, Decreased mean corpuscular volume ORPHA:160
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Ethylene Glycol Poisoning
Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Addictive alcohol use, A... ORPHA:31826
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphol... ORPHA:449432
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypoplastic labia minora,... ORPHA:398069
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Intrauterine growth retardation, Microphthalmia ORPHA:163966
Seckel Syndrome 2
Microphthalmia OMIM:606744
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased body weight OMIM:615830
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Abnormal pancreas morp... ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis OMIM:300860
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k... OMIM:612925
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:494344
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Failure to thri... OMIM:615595
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Ataxia, Proteinuria OMIM:603585
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Failure to thrive, Splenomegaly, Dysphagia, Insulin resistance, H... OMIM:613327
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Heart And Brain Malformation Syndrome
Microphthalmia, Polyhydramnios OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Jaundice, Hepatomegaly, Aciduria, Microvesicular hepatic steatosis, ... OMIM:203700
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Renal Fanconi syndrome, Fail... OMIM:309000
Cholera
Acute kidney injury, Hypoglycemia, Abnormality of renal excretion, Decreased urine output ORPHA:173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Anuria, Nephrotic range proteinuria, Oliguria, Diabetes mellit... ORPHA:544482
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goite... ORPHA:99819
Tuberous Sclerosis Complex
Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid adenoma, Stage 5 chr... ORPHA:805
Joubert Syndrome 37
Microphthalmia OMIM:619185
Liver Failure, Infantile, Transient
Jaundice, Dicarboxylic aciduria, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular h... OMIM:613070
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... OMIM:615926
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Rodrigues Blindness
Microphthalmia OMIM:268320
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia OMIM:616395
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612926
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios OMIM:251230
Temtamy Syndrome
Microphthalmia OMIM:218340
Early Infantile Epileptic Encephalopathy
Hyperactivity, Episodic ataxia, Ureterocele, Precocious puberty, Failure to thrive, Renal dysplas... ORPHA:1934
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption, Hypermagnesiuria, Neph... ORPHA:73224
Galloway-Mowat Syndrome 3
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Edema OMIM:617729
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Sepsis In Premature Infants
Jaundice, Hepatomegaly, Decreased body weight, Splenomegaly, Oliguria, Reversible renal failure, ... ORPHA:90051
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele ORPHA:1791
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria OMIM:612924
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Moebius Syndrome
Microphthalmia OMIM:157900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Polyhydramnios, Septo-optic dysplasia ORPHA:3301
Mosaic Trisomy 9
Microphthalmia, Polyhydramnios, Hydrops fetalis, Spina bifida, Intrauterine growth retardation, O... ORPHA:99776
Vacterl With Hydrocephalus
Microphthalmia, Polyhydramnios, Anophthalmia, Spina bifida, Intrauterine growth retardation ORPHA:3412
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Gait ataxia, Ataxia, Hypoglycemia, Lacticaciduria OMIM:620451
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele OMIM:613451
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Failure to thrive, Neonatal death, Small for gestational age, Hypoglycemia... OMIM:619055
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Oligohydramnios, Increased nuchal translucency OMIM:619879
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Hyperuricemia, Hprt-Related
Hyperuricosuria, Nephrolithiasis, Renal insufficiency OMIM:300323
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland OMIM:620558
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Chondrodysplasia Punctata 2, X-Linked Dominant
Edema, Microphthalmia, Polyhydramnios OMIM:302960
Adams-Oliver Syndrome
Microphthalmia, Ascites, Encephalocele ORPHA:974
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1352
Marden-Walker Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:248700
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Failure to t... ORPHA:416
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Hypogonadism, Vaginal atresia OMIM:615989
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele OMIM:614424
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol... OMIM:609049
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Umbilical hernia ORPHA:369891
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Broad-based gait, Renal tubular acidosis, Failure to thrive, Dysphagia OMIM:616457
Lujo Hemorrhagic Fever
Fulminant hepatitis, Microscopic hematuria, Dysphagia, Oliguria, Renal insufficiency ORPHA:319213
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Microphthalmia ORPHA:2728
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Hepatomegaly, Multiple glomerular cysts, Chorea, Gait ataxia, F... ORPHA:255210
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Polyhydramnios OMIM:603467
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Bardet-Biedl Syndrome 20
Pancreatitis, Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis OMIM:619471
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Cryptorchidism OMIM:117550
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Dysmetria, Elevated circulating thyro... OMIM:620185
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Stage 5 chronic kidney disease, Failure to thrive, Lacticaciduria OMIM:618250
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Liver Disease, Severe Congenital
Biliary hyperplasia, Splenomegaly, Hepatic steatosis, Jaundice, Intrahepatic cholestasis, Hypospa... OMIM:619991
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Failure to thrive, Macroorchidism OMIM:619950
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Alkaptonuria
Prostatitis, Black pigment gallstones, Nephrolithiasis, Hypothyroidism, Dark urine, Elevated urin... ORPHA:56
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus ORPHA:2457
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Citrullinemia, Classic
Cirrhosis, Hepatomegaly, Oroticaciduria, Failure to thrive, Ataxia OMIM:215700
Argininosuccinic Aciduria
Hepatomegaly, Oroticaciduria, Failure to thrive, Ataxia, Hepatic fibrosis, Aminoaciduria OMIM:207900
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Organic aciduria, Aminoaciduria, Galactosuria ORPHA:85276
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Frontorhiny
Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele ORPHA:391474
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos OMIM:610758
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypospadias, Hyperactivity, Vesicoureteral reflux, Decreased testicular size, Renal hypoplasia, O... OMIM:309580
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Micro Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2510
Pmm2-Cdg
Abnormal renal tubule morphology, Elevated circulating thyroid-stimulating hormone concentration,... ORPHA:79318
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cachexia, Cholelithiasis, Azoospermia ORPHA:2072
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Failure to thrive, Oroticaciduria, Dysphagia OMIM:620358
Refsum Disease
Microphthalmia ORPHA:773
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Kapur-Toriello Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:244300
Argininosuccinic Aciduria
Ataxia, Oroticaciduria, Aminoaciduria ORPHA:23
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios ORPHA:364577
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Pancreatitis, Failure to thrive, Splenomegaly, Hyperlysinuria, Stag... OMIM:222700
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Hepatomegaly, Oroticaciduria, Progressive cerebellar ataxia, Failure to thrive, Imp... ORPHA:415
Mosaic Trisomy 1
Microphthalmia, Polyhydramnios, Increased nuchal translucency ORPHA:1692
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Hypoplasia of the iris OMIM:251300
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Hypothyroidism, Failure to thrive, Hepatic fibrosis, Hepati... OMIM:615486
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Papillorenal Syndrome
Edema, Microphthalmia OMIM:120330
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele OMIM:619148
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Proximal tubulopathy, Organic aciduria, Medullary nephrocalcinosi... OMIM:619743
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Adrenocortical Carcinoma
Increased body weight, Weight loss, Adrenocorticotropic hormone deficiency ORPHA:1501
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
D-Lactic Aciduria With Gout
Elevated urine D-lactate level, Lacticaciduria OMIM:245450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Anuria, Hemoglobinuria, Peritonitis ORPHA:90038
Renal Tubular Dysgenesis
Renotubular dysgenesis, Anuria, Abnormality of the urinary system OMIM:267430
Trisomy 18
Microphthalmia, Anencephaly, Spina bifida, Intrauterine growth retardation, Oligohydramnios ORPHA:3380
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Edema ORPHA:2526
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoaciduria ORPHA:30
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Biotinidase Deficiency
Ataxia, Hepatomegaly, Organic aciduria, Splenomegaly OMIM:253260
Fumarase Deficiency
Bilateral fetal pyelectasis, Intrahepatic cholestasis, Failure to thrive, Elevated urine fumaric ... OMIM:606812
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Polyhydramnios, Ascites, Increased nuchal translucency, Intrauterine growth retar... ORPHA:1052
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Failure to thrive, Episodic ataxia, Oroticaciduria, Ataxia OMIM:311250
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria ORPHA:99742
Proteus Syndrome
Ovarian neoplasm, Long penis, Testicular neoplasm, Cachexia, Overgrowth, Enlarged polycystic ovar... ORPHA:744
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Martsolf Syndrome 1
Microphthalmia OMIM:212720
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Fryns Syndrome
Microphthalmia, Polyhydramnios ORPHA:2059
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Dys... OMIM:617913
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele OMIM:253800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Cohen Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:193
Orotic Aciduria
Orotic acid crystalluria, Oroticaciduria, Hematuria, Failure to thrive OMIM:258900
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Joubert Syndrome 2
Microphthalmia, Encephalocele OMIM:608091
Oculo-Palato-Cerebral Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:2714
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia, Encephalocele OMIM:614643
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele OMIM:264480
Holocarboxylase Synthetase Deficiency
Organic aciduria, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level OMIM:253270
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria ORPHA:414
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos OMIM:236670
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Combined Oxidative Phosphorylation Deficiency 14
Elevated hepatic iron concentration, Copper accumulation in liver, Aminoaciduria, Increased hepat... OMIM:614946
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta OMIM:607323
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Spina bifida, Hydranencephaly ORPHA:2839
1Q21.1 Microdeletion Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:250989
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Oligohy... ORPHA:564
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia ORPHA:2092
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Nephrocalcinosis, Ataxia, Aminoaciduria OMIM:616084
Yellow Fever
Acute kidney injury, Jaundice, Anuria, Acute pancreatitis, Pancreatic hyperplasia, Renal insuffic... ORPHA:99829
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis OMIM:619351
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Spinal dysraphism ORPHA:2162
Jacobsen Syndrome
Intrauterine growth retardation, Microphthalmia, Macular hypoplasia OMIM:147791
Dubowitz Syndrome
Intrauterine growth retardation, Microphthalmia, Hypoplasia of the iris OMIM:223370
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Histiocytoid Cardiomyopathy
Pulmonary edema, Microphthalmia, Congenital aphakia ORPHA:137675
Hallermann-Streiff Syndrome
Microphthalmia, Spina bifida OMIM:234100
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Wiskott-Aldrich Syndrome
Glomerulopathy, Nephropathy, Hypoplasia of the thymus, Abnormality of the menstrual cycle ORPHA:906
Cousin Syndrome
Microphthalmia, Hydranencephaly OMIM:260660
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia ORPHA:464
Cystic Fibrosis
Absent vas deferens, Male infertility, Decreased body mass index, Failure to thrive ORPHA:586
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Cat Eye Syndrome
Microphthalmia, Umbilical hernia OMIM:115470
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Encephalocele OMIM:616300
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Biotinidase Deficiency
Organic aciduria, Ataxia ORPHA:79241
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal phosphate wasting ORPHA:289176
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Cardiogenic Shock
Oliguria, Hepatomegaly ORPHA:97292
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Microphthalmia, Oligohydramnios OMIM:608670
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:146510
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level OMIM:167100
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Bilateral microphthalmos, Anophthalmia OMIM:601186
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edem... ORPHA:91500
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Microphthalmia OMIM:614083
Roberts Syndrome
Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation ORPHA:3103
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi... OMIM:256520
Isolated Arrhinia
Microphthalmia ORPHA:1134
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Leukocyte Adhesion Deficiency
Vaginitis, Hemolytic-uremic syndrome, Recurrent urinary tract infections, Peritonitis, Hyperinsul... ORPHA:2968
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Aspartylglucosaminuria
Hepatomegaly, Splenomegaly, Macroorchidism ORPHA:93
African Trypanosomiasis
Abnormality of renin-angiotensin system, Urinary incontinence, Jaundice, Hepatomegaly, Abnormalit... ORPHA:3385
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Spina bifida ORPHA:508498
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Intrauterine growth retarda... OMIM:249000
Myhre Syndrome
Intrauterine growth retardation, Pericardial effusion, Microphthalmia OMIM:139210
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Branchial cyst OMIM:620186
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele ORPHA:861
Cockayne Syndrome B
Intrauterine growth retardation, Microphthalmia, Hypoplasia of the iris OMIM:133540
Fryns Syndrome
Chylothorax, Microphthalmia, Polyhydramnios OMIM:229850
22Q11.2 Deletion Syndrome
Microphthalmia, Polyhydramnios, Meningocele, Spina bifida, Umbilical hernia, Intrauterine growth ... ORPHA:567
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Microphthalmia OMIM:616975
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism OMIM:208400
Bartsocas-Papas Syndrome 1
Intrauterine growth retardation, Microphthalmia OMIM:263650
Trichothiodystrophy
Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Exercise-Induced Malignant Hyperthermia
Oliguria, Acute kidney injury, Ataxia ORPHA:466650
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Occipital meningocele OMIM:610828
Monosomy 13Q14
Intrauterine growth retardation, Microphthalmia ORPHA:1587
Cystic Fibrosis
Failure to thrive, Male infertility OMIM:219700
Yunis-Varon Syndrome
Bilateral microphthalmos, Polyhydramnios, Microphthalmia, Hydrops fetalis, Increased nuchal trans... ORPHA:3472
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Aicardi Syndrome
Microphthalmia, Spina bifida OMIM:304050
Charge Syndrome
Microphthalmia, Polyhydramnios, Anophthalmia, Umbilical hernia, Intrauterine growth retardation ORPHA:138
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Cushing Disease
Increased body weight, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Abdominal obesi... ORPHA:96253
Steinfeld Syndrome
Microphthalmia OMIM:184705
Fontaine Progeroid Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Umbilical hernia OMIM:612289
Degcags Syndrome
Intrauterine growth retardation, Microphthalmia, Polyhydramnios OMIM:619488
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Aicardi Syndrome
Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Traboulsi Syndrome
Microphthalmia OMIM:601552
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Anencephaly OMIM:236680
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia OMIM:610829
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia, Umbilical hernia OMIM:300166
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Monosomy 9P
Microphthalmia ORPHA:261112
Hellp Syndrome
Increased body weight ORPHA:244242
Mend Syndrome
Microphthalmia ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Cockayne Syndrome
Microphthalmia ORPHA:191
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Umbilical hernia OMIM:613884
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia OMIM:305600
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Prostate cancer, Weight loss, Pancr... ORPHA:99889
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Bilateral microphthalmos ORPHA:93325
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele OMIM:100300
Witteveen-Kolk Syndrome
Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Branchial fistula OMIM:613406
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Kanzaki Disease
Aminoaciduria, Distal sensory impairment, Increased urinary O-linked sialopeptides OMIM:609242
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia OMIM:619539
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia, Intrauterine growth retar... ORPHA:508488
Charge Syndrome
Microphthalmia, Polyhydramnios, Anophthalmia, Unilateral microphthalmos, Umbilical hernia OMIM:214800
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Pallister-Hall Syndrome
Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Umbilical hernia ORPHA:672
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia OMIM:219000
Branchiooculofacial Syndrome
Intrauterine growth retardation, Branchial anomaly, Microphthalmia, Anophthalmia OMIM:113620
Roberts-Sc Phocomelia Syndrome
Frontal encephalocele, Microphthalmia, Polyhydramnios, Severe intrauterine growth retardation OMIM:268300
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Holoprosencephaly 1
Microphthalmia OMIM:236100
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Holoprosencephaly 2
Microphthalmia OMIM:157170
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia ORPHA:261552
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Familial Melanoma
Neoplasm of the pancreas ORPHA:618
Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609048

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
Pancreas - MPATH pathological process term hypoplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult
Testis - MPATH pathological process term hypoplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult
Ovary - MPATH pathological process term developmental dysplasia Cdk4tm1b(NCOM)Mfgc HOM Early adult
Epididymis - MPATH pathological process term hypoplasia Cdk4tm1b(NCOM)Mfgc 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 Cdk4.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Inducible deletion of CDK4 and CDK6 - deciphering CDK4/6 inhibitor effects in the hematopoietic system. Haematologica (October 2021) Cdk4tm1c(NCOM)Mfgc Cdk4tm1a(NCOM)Mfgc 32855282
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Cdk4tm1b(NCOM)Mfgc PMC8163790
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdk4tm1.1Bbd PMC7263671
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdk4R24C PMC5827107

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
Cdk4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdk4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cdk4tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cdk4tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Cdk4tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter