Gene Summary

Name:
CTF18, chromosome transmission fidelity factor 18
Synonyms:
CTF18,  6030457M03Rik

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
hyperactivity Chtf18tm1b(KOMP)Wtsi HET Early adult 5.49×10-09
increased heart weight Chtf18tm1b(KOMP)Wtsi HET Early adult 1.27×10-05
increased circulating chloride level Chtf18tm1b(KOMP)Wtsi HET   Early adult 5.40×10-05
increased circulating bilirubin level Chtf18tm1b(KOMP)Wtsi HET Early adult 6.35×10-05
abnormal embryo size Chtf18tm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, incomplete penetrance Chtf18tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote Ambiguous
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote Ambiguous
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
N/A Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Section

37 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Electroretinography 2

Rod and cone PDF

4 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Chtf18 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 Chtf18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity OMIM:615703
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Immunodeficiency 8
Hyperactivity OMIM:615401
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Malaria
Elevated circulating C-reactive protein concentration, Gait imbalance, Hyperbilirubinemia ORPHA:673
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Ethanolaminosis
Cardiomegaly OMIM:227150
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increase... OMIM:616278
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Hypermanganesemia With Dystonia 1
Dystonia, Hepatomegaly, Unconjugated hyperbilirubinemia, Steppage gait, Bradykinesia, Hypermangan... OMIM:613280
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Young Syndrome
Azoospermia OMIM:279000
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis OMIM:614300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Lipoyltransferase 1 Deficiency
Dystonia, Increased total bilirubin OMIM:616299
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin OMIM:618528
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Harderoporphyria
Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Neonatal hyperbilirubin... OMIM:618892
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly OMIM:269920
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration OMIM:601775
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Lethargy OMIM:605899
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy ORPHA:95717
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Increased circulating ferritin c... OMIM:616860
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegal... ORPHA:158057
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia ORPHA:713
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:607765
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Lethargy OMIM:619064
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia OMIM:613404
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinemia, Hyperammonemia, At... ORPHA:1667
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia ORPHA:73272
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirub... ORPHA:79303
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Lethargy ORPHA:95716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Splenomegaly OMIM:109270
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial s... OMIM:208085
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Sm... ORPHA:330015
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Patent foramen ovale, Tip-toe gait, Neonatal hyperbilir... ORPHA:293939
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly, Ataxia ORPHA:822
Pyruvate Carboxylase Deficiency
Dystonia, Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic... ORPHA:3008
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... OMIM:619662
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Splenomegaly, Ataxia, Inc... OMIM:603553
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Dysmetria, Steppage gait, Hypocholesterole... ORPHA:14
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... ORPHA:85450
Hereditary Elliptocytosis
Splenomegaly, Hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:288
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Splenomegaly, Increased circulating ferri... ORPHA:3202
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Hepatoportal Sclerosis
Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Morm Syndrome
Hyperactivity ORPHA:75858
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonem... OMIM:619051
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hyperammonem... OMIM:212140
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Small for gestational age, Failure to thrive, Diabetes mellitus, Clitoral hypoplasi... OMIM:614813
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia OMIM:271980
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Myopathy With Extrapyramidal Signs
Dystonia, Ventricular septal defect, Hepatomegaly, Elevated circulating creatine kinase concentra... OMIM:615673
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricosuria, Hyperuricemia, Bicarbonaturi... OMIM:229600
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Rh Deficiency Syndrome
Reduced haptoglobin level, Hepatosplenomegaly, Hyperbilirubinemia ORPHA:71275
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level, Lethargy ORPHA:90673
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Cystic Echinococcosis
Abnormal heart morphology, Hepatomegaly, Hyperbilirubinemia ORPHA:400
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Atte... ORPHA:90674
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia ORPHA:363400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Attention deficit hyperactivity disorder, Abnormal cardiac septum mo... OMIM:614294
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... ORPHA:465508
Coffin-Siris Syndrome 7
Abnormal heart morphology, Hyperactivity, Abnormal cardiac septum morphology OMIM:618027
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... ORPHA:567983
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252920
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:39812
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Hepatosplenomegaly, Conjugated hyperbilirubinemia ORPHA:168577
Bloom Syndrome
Oligospermia, Small for gestational age, Azoospermia, Male infertility, Diabetes mellitus, Premat... ORPHA:125
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... ORPHA:247585
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Hyperactivity, Ataxia ORPHA:52503
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Atrial septal defect, Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Atrial septal defect, Pulmonic stenosis OMIM:619239
Fragile X Syndrome
Hyperactivity, Mitral valve prolapse OMIM:300624
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Abnormal heart morphology, Hyperbilirubinemia ORPHA:464321
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, E... OMIM:305400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Dysplastic pulmonary valve, Broad-based gait OMIM:300958
Caroli Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Cranioectodermal Dysplasia 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Atrial septal defec... OMIM:613610
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Lethargy OMIM:218700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:53035
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Abnormal heart morphology, Hypertriglyceridemia OMIM:182290
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Lathosterolosis
Hepatosplenomegaly, Hyperbilirubinemia, Abnormal circulating cholesterol concentration OMIM:607330
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Bicuspid aortic valve, Ventricular septal defect, Torticollis, Falls, Hyperbilirubinemi... OMIM:619475
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, Atrial septal defect, Patent foramen ovale OMIM:610883
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Neonatal hyperbilirubinemia, Double outlet right ventricle, Mitral ste... ORPHA:163956
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Argininemia
Hepatomegaly, Spastic gait, Hyperammonemia, Hyperactivity, Hyperargininemia OMIM:207800
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Diabetes mellitus, Hypothyroidism OMIM:222300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dextrocardia, Hepatomegaly, Primum atrial septal defect, Ventricular septal defect, Atrioventricu... OMIM:619534
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Degcags Syndrome
Hepatomegaly, Ventricular septal defect, Hyperbilirubinemia, Pulmonic stenosis, Hepatosplenomegal... OMIM:619488
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, At... OMIM:301068
Diphallia
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... ORPHA:227
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Hyperactivity, Atrial septal defe... ORPHA:485405
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252930
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... ORPHA:139396
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Hyperactivity, Ataxia ORPHA:760
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Splenomegaly, Increased erythrocyte p... ORPHA:79277
Ataxia-Telangiectasia
Hypoplasia of the thymus, Abnormal spermatogenesis, Diabetes mellitus, Female hypogonadism, Delay... OMIM:208900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Increased blood... ORPHA:447
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252940
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia OMIM:613658
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Tetrasomy 9P
Oligospermia, Infertility, Absent gallbladder, Micropenis, Cryptorchidism ORPHA:3310
Hyperlysinemia
Hypoornithinemia, Dysmetria, Hyperammonemia, Hyperactivity, Tip-toe gait, Hyperlysinemia ORPHA:2203
Brain-Lung-Thyroid Syndrome
Dystonia, Ventricular septal defect, Falls, Hyperactivity, Ataxia, Atrial septal defect, Abnormal... ORPHA:209905
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Mitral valve prolapse ORPHA:449291
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Pericardial effusion, Hyperactivity, Atrial septal defect, Hypoalbumin... OMIM:235510
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hyperactivit... ORPHA:2209
Stankiewicz-Isidor Syndrome
Hyperactivity, Ventricular septal defect, Truncus arteriosus OMIM:617516
Legius Syndrome
Dystonia, Mitral valve prolapse,