Gene Summary

Name:
sirtuin 1
Synonyms:
Sir2alpha,  Sir2

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased basophil cell number Sirt1tm1b(EUCOMM)Wtsi HET Early adult 6.63×10-12
abnormal iris morphology Sirt1tm1b(EUCOMM)Wtsi HOM Early adult 6.91×10-06
abnormal pelvic girdle bone morphology Sirt1tm1b(EUCOMM)Wtsi HET   Early adult 8.14×10-05
abnormal snout morphology Sirt1tm1b(EUCOMM)Wtsi HOM Early adult 4.90×10-05
abnormal tooth morphology Sirt1tm1b(EUCOMM)Wtsi HOM Early adult 3.33×10-06
narrow eye opening Sirt1tm1b(EUCOMM)Wtsi HOM Early adult 5.73×10-07
preweaning lethality, incomplete penetrance Sirt1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal maxilla morphology Sirt1tm1b(EUCOMM)Wtsi HOM Early adult 3.12×10-05
abnormal scapula morphology Sirt1tm1b(EUCOMM)Wtsi HET   Early adult 5.37×10-05
abnormal sinus arrhythmia Sirt1tm1b(EUCOMM)Wtsi HET Early adult 8.74×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

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

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

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

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

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Echo

M-Mode Images

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Human diseases caused by Sirt1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Sirt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... OMIM:614962
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi... OMIM:269840
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu... OMIM:619611
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Diabetes Insipidus, Neurohypophyseal
Hypertelorism, Wide nose, Short nose, Long philtrum OMIM:125700
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Developmental And Epileptic Encephalopathy 87
Prominent nose, Hypertelorism, Bulbous nose, Hypotelorism, Wide mouth, High palate, Widely spaced... OMIM:618916
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorc... OMIM:613544
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Optic disc hypoplasia, Depressed nasal bridge, Wide nasal bridge, Aspiration pneumonia, Death in ... OMIM:609528
Non-Syndromic Metopic Craniosynostosis
Wide nasal bridge, Hypotelorism ORPHA:3366
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Epicanthus, Anteverted nares, Hypertelorism, Open mouth, Bulbous nose, ... OMIM:613604
Burn-Mckeown Syndrome
Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Bilateral choanal atresia, Short nose, ... ORPHA:1200
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
17Q21.31 Microduplication Syndrome
Epicanthus, Anteverted nares, Abnormality of the dentition, Synophrys, High palate, Short philtru... ORPHA:217340
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, L... OMIM:618495
Amyotrophy, Hereditary Neuralgic
Epicanthus, Depressed nasal bridge, Narrow mouth, Cleft palate, Hypotelorism, Upslanted palpebral... OMIM:162100
Spermatogenic Failure 17
Male infertility OMIM:617214
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Trigonocephaly 1
Epicanthus, High, narrow palate, Synophrys, Wide nasal bridge, Hypotelorism, Upslanted palpebral ... OMIM:190440
Trigonocephaly With Short Stature And Developmental Delay
Epicanthus, Small for gestational age, Wide nasal bridge, Hypotelorism, High palate, Broad alveol... OMIM:314320
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... OMIM:615952
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Intellectual Developmental Disorder, Autosomal Recessive 5
Smooth philtrum, Telecanthus, Small for gestational age, Prominent nasal bridge, Underdeveloped n... OMIM:611091
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Eosinophilic gran... OMIM:616433
Schaaf-Yang Syndrome
Flexion contracture, Micropenis, Short stature, Tapered finger, Cryptorchidism, Obesity, Short pa... OMIM:615547
14Q11.2 Microdeletion Syndrome
Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Hypertelorism... ORPHA:261120
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Epicanthus, Small for gestational age, Wide nasal bridge, Hypotelorism, Broad secondary alveolar ... ORPHA:3369
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... ORPHA:449395
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Lymphoid Interstitial Pneumonia
Cor pulmonale, Clubbing, Lymphocytic interstitial pneumonia, Aortic valve stenosis OMIM:247610
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... OMIM:608709
Frontoocular Syndrome
Epicanthus, Prominent nasal bridge, Narrow philtrum, Hypotelorism, Upslanted palpebral fissure, P... OMIM:605321
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n... ORPHA:37042
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis OMIM:620086
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Hadziselimovic Syndrome
Epicanthus, Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Hypotelorism, Hi... OMIM:612946
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... ORPHA:398069
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Mogs-Cdg
Respiratory distress, Apnea, External genital hypoplasia, Edema, Cardiomegaly, Polyhydramnios, Hi... ORPHA:79330
Non-Distal Duplication 13Q
Abnormality of the dentition, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Hypoteloris... ORPHA:1702
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Sandal gap, Ataxia, Highly arched eyebrow, Short stature, Abn... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Hypertelorism, Wide nasal bridge, Hypotelorism, Downturned corners of mouth, Sho... OMIM:613192
Coxopodopatellar Syndrome
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... ORPHA:1509
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... OMIM:608971
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Death in infancy, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge... OMIM:618622
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Trisomy 18P
Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Bilateral cryptorchidism, High, na... ORPHA:1715
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Dyspnea, Angioedema, Myocarditis, Hepatitis, Erythroderma, Thyr... ORPHA:139402
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Prader-Willi Syndrome
Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response to growth h... OMIM:176270
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Benign Samaritan Congenital Myopathy
Epicanthus, Hypertelorism, Abnormal respiratory system physiology, Wide nasal bridge, Narrow mout... ORPHA:324581
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Thin upper lip vermilion, Neonatal respiratory distress, ... OMIM:615042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... OMIM:615986
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Hypertelorism, Deep philtrum, Synophrys, Orofacial clef... OMIM:609637
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Xk Aprosencephaly Syndrome
Hypotelorism, Abnormal nostril morphology, Anal atresia, Narrow mouth ORPHA:3469
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Non-Distal Duplication 10Q
Depressed nasal bridge, Hypertelorism, Cryptorchidism, High palate, Everted lower lip vermilion, ... ORPHA:1695
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
2Q23.1 Microduplication Syndrome
Thin upper lip vermilion, Dental crowding, Highly arched eyebrow, Prominent nose, Abnormality of ... ORPHA:313947
Giacheti Syndrome
Hypotelorism OMIM:612917
Intellectual Developmental Disorder, X-Linked 91
Epicanthus, Macrodontia, Obesity, High palate, Short nose OMIM:300577
Tonne-Kalscheuer Syndrome
Decreased testicular size, Prominent nasal bridge, Prominent nose, Hypertelorism, Cryptorchidism,... OMIM:300978
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate, Primary am... OMIM:244200
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Epicanthus, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Cryptorchidism, Furrowed tongue, Hypotelor... ORPHA:1387
Chromosome 5P13 Duplication Syndrome
Epicanthus, Small for gestational age, Blepharophimosis, Hypertelorism, Bulbous nose, Wide nasal ... OMIM:613174
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Exaggerated cupid... OMIM:617752
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Eczema, Small for gestational age, Failure to thrive in infancy, Decrease... OMIM:617241
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Hepatomegaly, Large for gestational age, Respiratory insufficie... ORPHA:2432
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, ... ORPHA:399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Li-Ghorbani-Weisz-Hubshman Syndrome
Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Hypotelorism, Upslanted ... OMIM:618974
Luscan-Lumish Syndrome
Short stature, Aggressive behavior, Long nose, Shyness, Irregular menstruation, Advanced ossifica... OMIM:616831
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Increased circulating cortis... ORPHA:189427
Ogden Syndrome
Apnea, Bicuspid aortic valve, Maternal diabetes, Abnormal eyelid morphology, Cardiomegaly, Microv... OMIM:300855
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating complemen... OMIM:615559
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Holoprosencephaly 4
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Hyp... OMIM:142946
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Small hand, Obesity, S... ORPHA:177910
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly, Polyph... OMIM:617119
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Weigh... ORPHA:188
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal alae, Broad nasal ti... ORPHA:250999
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Urinary incontinence, Abnormal tendon morphology, Reduced sperm motilit... ORPHA:320391
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Hyperinsulinemia, P... ORPHA:276580
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Epicanthus, Failure to thrive, High palate, Hypotelorism OMIM:616281
Chung-Jansen Syndrome
Epicanthus, Anteverted nares, Hypertelorism, Cryptorchidism, Synophrys, Obesity, Upslanted palpeb... OMIM:617991
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Dextrocardi... OMIM:615994
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Hypotelorism, Conical tooth OMIM:193530
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Whipple Disease
Myositis, Anorexia, Uveitis, Pedal edema, Cough, Hypothyroidism, Infectious encephalitis, Hepatom... ORPHA:3452
Schilbach-Rott Syndrome
Epicanthus, Prominent nose, Long nose, Submucous cleft hard palate, Hypotelorism, Upslanted palpe... OMIM:164220
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, S... OMIM:612530
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, T... ORPHA:3261
Erdheim-Chester Disease
Hyperhidrosis, Cough, Hypogonadotropic hypogonadism, Ataxia, Abnormal pericardium morphology, Pul... ORPHA:35687
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
Pediatric-Onset Graves Disease
Abnormal eyelid morphology, Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody ... ORPHA:525731
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Epicanthus, Depressed nasal bridge, Wide nasal bridge, Hypotelorism, High palate OMIM:615760
Lead Poisoning
Anorexia, Abnormal T cell morphology, Tubulointerstitial nephritis, Decreased male libido, Renal ... ORPHA:330015
Holoprosencephaly 11
Cleft lip, Synophrys, Cleft palate, Hypotelorism, Proptosis, Thick eyebrow OMIM:614226
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hepatic... OMIM:615703
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Failure to thrive in infancy, Synophrys, Pulmonary arterial hypertension, Deepl... OMIM:619064
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Melanocytic Nevus Syndrome, Congenital
Anteverted nares, Narrow nasal ridge, Broad nasal tip, Hypertelorism, Deep philtrum, Everted lowe... OMIM:137550
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Clubbing of fingers, Left ventricu... ORPHA:335
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G... OMIM:613496
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Abnormality of the denti... OMIM:300604
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Short stature, Anterior pituitary hypoplasia, Materna... ORPHA:3157
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Deeply set eye, Abnormality of the philtrum, Abnormality of the dentition ORPHA:276422
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Small for gestational age, Ventricular septal defect, Cleft palate, Rig... OMIM:614261
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Dyspnea, Depressed nasal ridge, Gingival fibromatosis, Gi... ORPHA:1832
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Nephrocalcinosis, High palate, Fasting hypoglycemia, Atrial septal defe... ORPHA:769
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Hypertelorism, Long phil... ORPHA:438178
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... ORPHA:99886
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Mosaic Monosomy X
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Ectopic kidney, Lymphedema, High, narrow palate, Delayed early-childhood s... ORPHA:99413
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Depressed nasal bridge, Cryptorchid... ORPHA:432
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Hyp... OMIM:619736
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Pierpont Syndrome
Smooth philtrum, Wide nose, Telecanthus, Broad nasal tip, Long upper lip, Cryptorchidism, Hyperte... OMIM:602342
Lig4 Syndrome
Epicanthus, Small for gestational age, Prominent nose, Cryptorchidism, Asthma, Wide nasal bridge,... OMIM:606593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Malabsorption, Nephrogenic ... ORPHA:213
Wolfram-Like Syndrome
Diabetes mellitus, Abnormality of the upper urinary tract, Respiratory insufficiency, Glucose int... ORPHA:411590
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... OMIM:613986
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... ORPHA:1146
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Atrial Septal Defect 5
Secundum atrial septal defect OMIM:612794
Atrial Septal Defect 3
Secundum atrial septal defect OMIM:614089
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Highly arche... OMIM:614701
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aplasia/Hypoplasia of fing... ORPHA:141152
Pontocerebellar Hypoplasia, Type 6
Apnea, Prominent nasal bridge, Narrow palate, Deeply set eye, Death in childhood, Lethargy, Failu... OMIM:611523
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Small for gestational age, Flared nostrils, Wide nasal bridge, Apneic episodes ... OMIM:312170
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Cachexia, Hyp... ORPHA:884
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Bulbous nose, Hypotelorism, Oligodontia, Long palpebral fissure OMIM:618330
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Wagro Syndrome
Decreased testicular size, Proteinuria, Aggressive behavior, Obesity, Agitation, Downslanted palp... OMIM:612469
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anorexia, Anti-thyroid peroxidase antibody positiv... ORPHA:49041
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Joubert Syndrome 15
Retinal dystrophy, Exencephaly, Coloboma, Ambiguous genitalia, Micropenis, Retinopathy OMIM:614464
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Dehydration, Nephrocalcinosis, Aminoaciduria, Atrial septal defect, Nephrop... OMIM:208085
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... ORPHA:324604
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Broad eyebrow OMIM:618302
Bloom Syndrome
Bronchitis, Adipose tissue loss, Uveitis, Otitis media, Stomach cancer, Decreased circulating IgG... ORPHA:125
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... OMIM:142669
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Anteverted nares, Hypertelorism, Depressed nasal ridge, Hypotelorism, Upslanted palpebral fissure... OMIM:618672
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Hypertelorism, Obesity, Short nose, Downslanted pa... OMIM:613670
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Convex nasal ridge, Polyphagia, Tibial bowing, High palate, Clinodac... ORPHA:251028
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Synophrys, Wide mouth, Truncal obesity, Deeply set eye, Everted lower l... ORPHA:2429
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Protruding tongue, Ma... OMIM:242860
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Small for gestational age, Syn... ORPHA:391408
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria, Ventricular septal defect, Nep... OMIM:613404
Cranioectodermal Dysplasia
Epicanthus, Anteverted nares, Abnormal dental enamel morphology, Abnormality of the dentition, Hy... ORPHA:1515
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Trunc... OMIM:105210
Central Diabetes Insipidus
Anorexia, Dehydration, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus, ... ORPHA:178029
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death, M... OMIM:613730
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Pedal edema, Weight loss, Hypertrophic ... ORPHA:330001
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... OMIM:167730
Wolfram Syndrome
Central apnea, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysuria, Malabsorpt... ORPHA:3463
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Aminoacidu... OMIM:219800
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Hepatomegaly, Recurrent respiratory infections, Left atrial enlargement, Dyspnea, Righ... ORPHA:75249
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Dental malocclusion OMIM:155050
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Anti-acetylc... ORPHA:99867
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Abnormality of the sublingual glands, Abnormality of the s... ORPHA:79493
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... OMIM:137940
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Brucellosis
Liver abscess, Rheumatoid factor positive, Anorexia, Bronchitis, Knee osteoarthritis, Hyperhidros... ORPHA:1304
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Autoimmunity, Hyperglycemia, Polydipsia, Polyphagia OMIM:222100
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
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Precocious puberty, In... ORPHA:786
Pyruvate Dehydrogenase Deficiency
Epicanthus, Hypertelorism, Dyspnea, Tachypnea, Wide nasal bridge, Upslanted palpebral fissure, Hi... ORPHA:765
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Simplified gyral pattern, Dysmetria, High palate, Chronic otitis... ORPHA:96121
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Intrauterine growth retardation, Nephrotic ra... ORPHA:1830
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
6P22 Microdeletion Syndrome
Deeply set eye, Epicanthus, Abnormal palate morphology, Hypotelorism ORPHA:251046
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Hypotelorism, Widely-spaced maxil... OMIM:619719
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, ... OMIM:615518
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Micr... OMIM:615297
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
2Q24 Microdeletion Syndrome
Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, ... ORPHA:1617
Gaba-Transaminase Deficiency
Lethargy, Downslanted palpebral fissures, Death in childhood OMIM:613163
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis, Autoimmunity, Cough ORPHA:163703
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Telecanthus, Hyperopic astigmatism, Hypoplasia of the maxilla, Crowded max... ORPHA:397973
Postinfectious Vasculitis
Rheumatoid factor positive, Anorexia, Gastrointestinal inflammation, Bacterial endocarditis, Acro... ORPHA:48435
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defec... OMIM:601186
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, ... OMIM:619468
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Submucous cleft ha... OMIM:619680
Oocyte/Zygote/Embryo Maturation Arrest 12 <