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Gene: Sox3 MGI:98365

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SRY (sex determining region Y)-box 3
Synonyms:
Sox-3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sox3 mutations

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

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

The table below shows human diseases associated to Sox3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... ORPHA:67045
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Decreased response to growth hormone... ORPHA:90695
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:300123
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Cryptorchidism, Diabetes insipidus, Absent septum pellucidum, Septo-optic dysp... ORPHA:3157

The table below shows human diseases predicted to be associated to Sox3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Spermatogenic Failure 65
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619712
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... OMIM:619177
Spermatogenic Failure 54
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... OMIM:301059
Spermatogenic Failure 56
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... OMIM:619515
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... OMIM:620084
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... ORPHA:529970
Spermatogenic Failure 39
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618643
Spermatogenic Failure 58
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility OMIM:620196
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 7
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Thyroid Hormone Metabolism, Abnormal, 3
Abnormal circulating free T3 concentration, Abnormal circulating free T4 concentration, Abnormal ... OMIM:620198
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... ORPHA:98797
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... ORPHA:98798
Leptin Receptor Deficiency
Delayed puberty, Abnormal hypothalamus morphology, Diabetes mellitus, Decreased response to growt... OMIM:614963
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... ORPHA:399805
Thyroid Hormone Metabolism, Abnormal, 1
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Increased circulat... OMIM:609698
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... OMIM:618433
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 77
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... OMIM:620103
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... OMIM:108420
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Short stature, Elevated circulating thyroid-stimulati... ORPHA:171706
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility OMIM:261550
Chudley-Mccullough Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplas... OMIM:604213
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Pituicytoma
Hypopituitarism, Abnormal circulating adrenocorticotropin concentration, Increased circulating pr... ORPHA:251623
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Pituitary Stalk Interruption Syndrome
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Primary amenorrhea, Diabetes insipidus, Ecto... ORPHA:95496
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... ORPHA:52901
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure, X-Linked, 4
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... OMIM:301077
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... OMIM:618086
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... ORPHA:67045
Culler-Jones Syndrome
Hypopituitarism, Cryptorchidism, Hypogonadism, Diabetes insipidus, Ectopic posterior pituitary, A... OMIM:615849
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, El... OMIM:619834
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Mild malformation of cortical development, Abnormal cerebral white matter morph... ORPHA:500166
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Decreased circulating follicle stimulating horm... OMIM:613986
Dystonia 30
Diffuse cerebral atrophy, Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility... OMIM:619291
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormal basal ganglia morphology, Decreased thalamic volume OMIM:618646
Ovarian Dysgenesis 9
Delayed puberty, Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulatio... OMIM:619665
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Prolactin Deficiency, Isolated
Infertility, Reduced circulating prolactin concentration, Irregular menstruation OMIM:264110
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Craniopharyngioma
Hypopituitarism, Delayed puberty, Increased circulating prolactin concentration, Abnormal hypotha... ORPHA:54595
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia, Obesity OMIM:615703
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Abnormal globus pallidus morphology, Abnormality of thalamus... ORPHA:397725
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Premature Ovarian Failure 18
Hypoplasia of the ovary, Decreased cirrculating antimullerian hormone circulation, Premature ovar... OMIM:619203
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Perrault Syndrome 3
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... OMIM:614129
Premature Ovarian Failure 10
Hypoplasia of the ovary, Decreased testicular size, Premature ovarian insufficiency, Primary amen... OMIM:612885
Premature Ovarian Failure 8
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:615723
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... OMIM:300200
Premature Ovarian Failure 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Elevated circulating follicle stimulati... OMIM:615724
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Premature Ovarian Failure 6
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:612310
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Hypoplasia of the premaxilla, Primary amenorr... ORPHA:2975
Familial Hyperprolactinemia
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst ORPHA:397685
Non-Acquired Panhypopituitarism
Delayed puberty, Hypopituitarism, Decreased testicular size, Decreased response to growth hormone... ORPHA:90695
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... OMIM:616950
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Secondary amenorrhea, Inappropriately normal thyroid... OMIM:301033
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... ORPHA:168563
Dentin Dysplasia, Type I
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... OMIM:125400
Growth Hormone Deficiency, Isolated Partial
Short stature, Postnatal growth retardation, Small pituitary gland, Decreased response to growth ... OMIM:615925
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Severe short stature, Decreased res... OMIM:618157
Duplication Of The Pituitary Gland
Agenesis of corpus callosum, Microcephaly, Abnormality of the pituitary gland, Abnormal hypothala... ORPHA:314621
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... OMIM:262600
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Interhypothalamic adhesion, Agenesis of corpus ... OMIM:618929
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Agenesis of corpus ... OMIM:617542
Schizencephaly
Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy OMIM:269160
Septooptic Dysplasia
Diabetes insipidus, Absent septum pellucidum, Decreased response to growth hormone stimulation te... OMIM:182230
Thyroid Hormone Resistance, Selective Pituitary
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... OMIM:145650
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... ORPHA:2235
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... OMIM:229070
Non Rare In Europe: Central Precocious Puberty
Hydrocephalus, Isosexual precocious puberty, Hypothalamic hamartoma, Increased circulating gonado... ORPHA:759
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:300888
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Ventriculomegaly, Probst bundles, Agenesis of corpus callosum, Unilateral c... OMIM:618286
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothyroidism OMIM:300123
Amelogenesis Imperfecta, Type Ij
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite OMIM:617297
Gonadoblastoma
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... ORPHA:206484
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... OMIM:614039
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism, Focal T2 hyperintense thalamic lesion, Leukoencephal... OMIM:613724
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... OMIM:618841
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Cerebral atrophy, Simplified gyral pattern, Lateral ventricle dilatation, Leukoen... OMIM:619244
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypoplasia of the corp... OMIM:618193
Bdv Syndrome
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... OMIM:619326
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Simplified gyral pattern, Decreased thalamic volume, Microcephaly, Hypoplasia of the corpus callo... OMIM:619072
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Central diabetes insipidus OMIM:125700
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
46,Xx Gonadal Dysgenesis
Delayed puberty, Premature ovarian insufficiency, Ambiguous genitalia, Primary amenorrhea, Decrea... ORPHA:243
Tubulinopathy-Associated Dysgyria
Abnormality of the internal capsule, Abnormal corpus callosum morphology, Ventriculomegaly, Dysgy... ORPHA:467166
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:66628
Oligodontia
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Central hypothyroidism, Decreased circulating follicle stimulating hor... ORPHA:453533
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, High palate, Eunuchoid... OMIM:308700
Perrault Syndrome 4
Oligomenorrhea, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary amenorrhea, Hyp... OMIM:615300
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume, Secondary microcephaly OMIM:613668
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... ORPHA:179494
Kennedy Disease
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... OMIM:228300
Frasier Syndrome
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... ORPHA:347
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stimula... OMIM:173100
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Malar flattening, Varicocele, Azo... ORPHA:8
Pituitary Carcinoma
Hypopituitarism, Hyperpituitarism, Elevated circulating growth hormone concentration, Pituitary p... ORPHA:300385
Polycystic Ovary Syndrome 1
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea, Obesity OMIM:184700
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Central hypothyroidism, Short stature, Thyroid hypop... OMIM:301035
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Functioning Gonadotropic Adenoma
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... ORPHA:91348
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Hypopituitarism, Increased circulating prolactin concentration, Precocious pubert... ORPHA:91354
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... ORPHA:251510
Septopreoptic Holoprosencephaly
Abnormal septum pellucidum morphology, Abnormal corpus callosum morphology, Megalencephaly, Micro... ORPHA:280195
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentrati... OMIM:275100
Young Syndrome
Azoospermia OMIM:279000
Lissencephaly Due To Tuba1A Mutation
Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ... ORPHA:171680
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... OMIM:300510
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Thin corpus callosum, Diffuse cerebral atrophy, Hypothalamic hamartoma, Hypothyro... OMIM:619908
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... OMIM:614837
Post-Traumatic Pituitary Deficiency
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... ORPHA:95619
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... OMIM:611548
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus... ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Severe short stature, Intrauterine growth retardation, Focal T2 hyperintense th... OMIM:619057
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... ORPHA:2822
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:91349
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland, Hypogonad... OMIM:612702
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Hypopituitarism, Decreased testicular size, Anterior pituitary agenesis, Decreas... ORPHA:95494
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration OMIM:603373
Kallmann Syndrome With Spastic Paraplegia
High palate, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Decreased circula... OMIM:308750
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:620211
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum ORPHA:250972
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Hypospadias OMIM:101805
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Thyroid hypoplasia, Hypot... OMIM:275200
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Decreased ci... OMIM:614841
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus... ORPHA:2183
Pituitary Adenoma 1, Multiple Types
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Increased ci... OMIM:102200
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Primary microcephaly, Dysplastic corpus callosum OMIM:618010
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Cleft palate, Male hypogonadism, D... ORPHA:432
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Ma... ORPHA:139474
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Small pituitary gland, Secondary mic... OMIM:617395
Wolfram-Like Syndrome
Delayed puberty, Diabetes mellitus, Primary gonadal insufficiency, Hypothyroidism, Male hypogonad... ORPHA:411590
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... OMIM:204700
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Dentinogenesis Imperfecta
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... ORPHA:49042
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:615286
Cog2-Cdg
Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Small pituitary gland, Secondary mic... ORPHA:435934
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland OMIM:614880
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... OMIM:614897
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Basal ganglia calcification, Thalamic calcification OMIM:615483
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619938
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia OMIM:104530
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypopituitarism, Inappropriate antidiuretic hormone secretion, Decreased circulating follicle sti... ORPHA:226307
Panhypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95513
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Mucolipidosis Iv
Hypergastrinemia, Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum OMIM:252650
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... OMIM:125500
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Microcephaly, Postnatal gro... OMIM:618160
48,Xyyy Syndrome
Irregularly spaced teeth, High palate, Primary gonadal insufficiency, Enamel hypoplasia, Azoosper... ORPHA:99329
Perrault Syndrome 6
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... OMIM:617565
X-Linked Acrogigantism
Hypopituitarism, Elevated circulating growth hormone concentration, Delayed puberty, Abnormality ... ORPHA:300373
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypothalamic lute... ORPHA:231720
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Decreased serum testosterone concentration, Adrenocortico... ORPHA:95512
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Central adrenal insufficiency, Small pituitary gland, Microcephaly, Hypogonadotr... OMIM:612079
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618317
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... ORPHA:2232
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum, Hypogonadotrop... ORPHA:238722
Developmental And Epileptic Encephalopathy 108
Small pituitary gland, Thin corpus callosum OMIM:620115
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen... ORPHA:300573
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Reduced circulating growth hormone concentration, Hypopituitarism, Impaired growth-hormone respon... OMIM:613038
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the jaw ORPHA:314473
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cryptorchidism, Intrauterine growth retardation, Dysplastic corpus callosum OMIM:620135
48,Xxyy Syndrome
Decreased testicular size, Cryptorchidism, Taurodontia, Broad jaw, Hypergonadotropic hypogonadism... ORPHA:10
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification OMIM:125420
Fowler Urethral Sphincter Dysfunction Syndrome
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea ORPHA:2795
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum, C... OMIM:617296
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Amelogenesis Imperfecta, Type Ic
Taurodontia, Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion,... OMIM:204650
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:199310
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Diabetes mellitus, Compensated hypothyroidism, Impaired sensitivity to thyroid hormone, E... OMIM:274300
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Short stature, ... OMIM:616113
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Reduced response to gonadotr... OMIM:616030
Prolactinoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Abnormality o... ORPHA:2965
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormal basal ganglia morphology, Encephalomalacia, Cerebral e... ORPHA:68
Insulin-Like Growth Factor I Deficiency
Elevated circulating growth hormone concentration, Intrauterine growth retardation, Short stature... OMIM:608747
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Oculoskeletodental Syndrome
Abnormality of thalamus morphology, Short stature, Focal white matter lesions, Dysplastic corpus ... ORPHA:557003
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Hyperpituitarism, Increased circulating prolactin concentration, Hypogonadism, Ne... ORPHA:91351
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Micropenis, Hypogonadism, Hydrocephalus, Ventriculomegaly, Microcephaly, Cerebral... ORPHA:500055
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... OMIM:617872
Aromatase Deficiency
Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism, Hypergonadotropic hypogonadism OMIM:613546
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
Resistance To Thyrotropin-Releasing Hormone Syndrome
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, El... ORPHA:99832
Gangliocytoma
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:251937
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Hypoplasia of the uterus, Cleft palate, Abnormal va... ORPHA:247768
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Decreased response to growth hormone stimulation test, Anterior pituita... OMIM:221750
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Lateral ventricle dilatation, Dysplastic corpus callosum, Thick corpus cal... ORPHA:544488
Pallister-Hall-Like Syndrome
Micropenis, Hydrocephalus, Short stature, Hypothalamic hamartoma, Microcephaly, Anterior hypopitu... OMIM:241800
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... ORPHA:90797
49,Xyyyy Syndrome
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Primary gonadal insuff... ORPHA:99330
Band Heterotopia
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Agenesis of corpus... OMIM:600348
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... ORPHA:3130
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Abnormal periventricular white matter morphology, Microcephaly, Dilated third ventricle OMIM:619725
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating ho... OMIM:613239
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ovarian Fibrothecoma
Abnormal endometrium morphology, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, O... ORPHA:314478
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... OMIM:194072
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Hypomature enamel, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Amelogenesis imperfecta, Yel... OMIM:618386
Combined Oxidative Phosphorylation Deficiency 54
Periventricular white matter hyperintensities, Primary amenorrhea, Secondary microcephaly, Hyperg... OMIM:619737
Otodental Syndrome
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... ORPHA:2791
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased testicular size, Retrognathia, Decreased response to growth hormone st... ORPHA:280679
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Adrenal hypoplasia, Cryptorchidism, Micropenis, Intrauterine growth retardation, Decreased respon... OMIM:614732
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Polymicrogyria, Primary microcephaly, Partial agenesis of the corpus callo... ORPHA:300570
Amelogenesis Imperfecta, Type If
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prola... ORPHA:91350
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Dandy-Walke... OMIM:613154
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Microcephaly, Hypothyroidism OMIM:300523
Holoprosencephaly 5
Central diabetes insipidus, Microcephaly, Lateral ventricle dilatation, Hydrocephalus OMIM:609637
Lead Poisoning
Abnormal sperm morphology, Delayed puberty, Small for gestational age, Reduced sperm motility, De... ORPHA:330015
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth OMIM:104510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... OMIM:301200
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Goiter, Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Abno... ORPHA:95715
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Decreased circulating free T4 concentration, Hypothyroidism, Ectopic thyroid, E... OMIM:225250
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Basal gan... OMIM:612462
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Ventriculomegaly, Dysplastic corpus callosum, Periventricular leukomalacia, Abn... OMIM:616900
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Cleft palate, Azoospermia, Micrognathia, Bicornuate uterus, Cleft upper... OMIM:601076
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Dental malocclusion, Velopharyngeal insufficiency... OMIM:613680
Gapo Syndrome
Dysmenorrhea, Abnormal palate morphology, Hypogonadism, Mandibular prognathia, Everted lower lip ... ORPHA:2067
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Diffuse white matter abnormalities, Decreas... ORPHA:370959
48,Xxxy Syndrome
Decreased testicular size, Cryptorchidism, Hypogonadism, Mandibular prognathia, Taurodontia, Hypo... ORPHA:96263
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Cerebral atrophy, Primary amenorrhea, L... ORPHA:135
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Reduced response to gonadotropin-releasing hormo... OMIM:619755
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Hyperintensity of cerebral white matter on MRI, T2 hypointense thalamus, Cerebral atrophy ORPHA:1947
46,Xx Sex Reversal 2
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... OMIM:278850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Short stature, Dysplastic corpus callosum, Microcephaly, Mild short stature, Liss... OMIM:614833
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... ORPHA:90793
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Abnormality of thalamus morphology ORPHA:88619
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Decreased circulating parathyroid hormone level, Micropenis, Severe intrauterine ... OMIM:241410
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypospadias, Lateral ventricle dilatation, Microcephaly, Cholelithiasis, Male u... ORPHA:464738
Dworschak-Punetha Neurodevelopmental Syndrome
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:619955
Ohdo Syndrome
Cryptorchidism, Hypoplasia of teeth, Widely spaced teeth, Narrow mouth, Long philtrum, Small scro... OMIM:249620
Isolated Exencephaly
Maternal diabetes, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Posterior pituitar... ORPHA:563612
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Thin corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, ... OMIM:619775
46,Xy Sex Reversal 7
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... OMIM:233420
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... ORPHA:1028
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Decreased serum testosterone concentration, Micropenis, Neoplasm of the pancreas... ORPHA:2959
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... ORPHA:1772
Familial Thyroid Dyshormonogenesis
Goiter, Positive perchlorate discharge test, Decreased circulating T4 concentration, Elevated cir... ORPHA:95716
Rhombencephalosynapsis
Hydrocephalus, Septo-optic dysplasia, Ventriculomegaly, Abnormality of the uterus, Fusion of the ... ORPHA:59315
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Abnormal corpus callosum morphology, Supernumerary nipple, Rhizomelic leg shortenin... ORPHA:397715
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... OMIM:300845
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Abnormal caudate nucleus morphol... ORPHA:157846
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity ORPHA:543
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia, Incre... ORPHA:786
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Micropenis, Neonatal death, Dysplastic corpus callosum OMIM:618810
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Progressive microcephaly, Ventriculomegaly, Dysplastic corpus callosu... ORPHA:2524
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... ORPHA:289548
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Cryptorchidism, Diabetes insipidus, Absent septum pellucidum, Septo-optic dysp... ORPHA:3157
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small for gestational age, Abnormality of the dentition, Breast hypoplasia, Diabetes mellitus, Ma... OMIM:614813
Microphthalmia, Syndromic 3
Cryptorchidism, Micropenis, Short stature, Hypothalamic hamartoma, Microcephaly, Hypogonadotropic... OMIM:206900
Hemochromatosis, Type 1
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Sim1-Related Prader-Willi-Like Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Central hypothyroidism, Exte... ORPHA:398079
Combined Oxidative Phosphorylation Deficiency 57
Cerebral atrophy, Secondary microcephaly, Diabetes insipidus, Nephrogenic diabetes insipidus, Neo... OMIM:620167
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypoplasia of the uterus, Decre... OMIM:614842
Pituitary Apoplexy
Oligomenorrhea, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormal caud... ORPHA:95613
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased testicular size, Premature ovarian insufficiency, Micropenis, Hypogona... ORPHA:3464
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... OMIM:400045
Aarskog-Scott Syndrome
Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... OMIM:305400
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Elevated circ... ORPHA:91347
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Ambiguous genitalia, Ventriculomegaly, Hypoplasia of penis, Pachygyria, Microceph... ORPHA:452
Hydranencephaly
Abnormal corpus striatum morphology, Primary microcephaly, Thalamic edema, Intrauterine growth re... ORPHA:2177
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligosper... ORPHA:85450
Hypoplasminogenemia
Abnormality of the ovary, Periodontitis, Gingival overgrowth, Gingivitis, Cervicitis, Abnormal fa... ORPHA:722
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Micr... ORPHA:2570
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Cryptorchidism, Micropenis, Intrauterine growth retardation, Decreased circulati... OMIM:619761
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Polymicrogyria, Cryptorchidism, Micropenis, Secondary microcephaly, Clitoral hypert... OMIM:618820
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Secondary microcephaly, Dandy-Walker malformation, Intrauterine growth reta... ORPHA:357058
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Cryptorchidism, Diastema, Micropenis, Microdontia, Supernumerary tooth, Agenesis... OMIM:619718
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Prader-Willi Syndrome
Central hypothyroidism, Diabetes mellitus, Central adrenal insufficiency, Small pituitary gland, ... ORPHA:739
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Posterior pituitary hypoplasia, Short stature, Abnormality of th... ORPHA:75389
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism, Increased circulating free T3, Increased circulatin... OMIM:609152
Sheehan Syndrome
Oligomenorrhea, Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Breas... ORPHA:91355
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... OMIM:307000
Slc35A2-Cdg
Cerebral atrophy, Intrauterine growth retardation, Short stature, Lateral ventricle dilatation, E... ORPHA:356961
Aicardi Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Precocious puberty, Lateral ventricle di... OMIM:304050
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism... ORPHA:226313
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Testicular atrophy, Hypogonadism OMIM:618165
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus, Oligospermia,... OMIM:602668
Even-Plus Syndrome
Agenesis of corpus callosum, Severe short stature, Dysplastic corpus callosum OMIM:616854
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Progressive microcephaly, Lateral ventricle dilatation, Ventriculomegaly, Dysplastic corpus callo... ORPHA:488627
Igg4-Related Thyroid Disease
Graves disease, Goiter, Abnormality of the pituitary gland, Nodular goiter, Hashimoto thyroiditis... ORPHA:64744
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Cerebral a... ORPHA:79264
Ane Syndrome
Delayed puberty, Premature loss of teeth, Adrenocorticotropin deficient adrenal insufficiency, An... ORPHA:157954
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypoplasia of penis ORPHA:110
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Leigh Syndrome With Cardiomyopathy
Neuronal loss in basal ganglia, Abnormal caudate nucleus morphology, Diffuse white matter abnorma... ORPHA:70474
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Abnormality of the dentition, Retrognathia, Micropenis, Endometr... ORPHA:363444
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... ORPHA:1359
Orofaciodigital Syndrome Type 14
Partial agenesis of the corpus callosum, Epispadias, Open operculum, Dilated fourth ventricle, Bi... ORPHA:434179
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating luteinizing hormone level, Hypogonadotropic hypogonadism, Decreased circula... OMIM:614839
Chromosome 14Q11-Q22 Deletion Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Thin corpus callosum, Elevated circulating thy... OMIM:613457
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circulating T4 concen... ORPHA:226316
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy ORPHA:309155
Microcephaly 26, Primary, Autosomal Dominant
Simplified gyral pattern, Short stature, Ventriculomegaly, Dysplastic corpus callosum, Pachygyria... OMIM:619179
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased circulating prolactin concentration, Decreased circulating T4 concentration, In... ORPHA:90674
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Microcephaly... OMIM:619103
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Dyskeratosis Congenita, Autosomal Recessive 2
Oral leukoplakia, Testicular atrophy OMIM:613987
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Crypto... ORPHA:361
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Dilated third ventricle ORPHA:314404
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ventriculomegaly, Small pituitary gland, Hydrocephalus OMIM:614195
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Elevated calcitonin, Hydrocephalus, Elevated circulating parathyroid hormone leve... OMIM:101800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Secondary mi... ORPHA:485421
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormality of thalamus morphology ORPHA:404440
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Intrauterine growth retardation, Short stature, Ventriculomegaly, Dysplastic corp... OMIM:151050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Kapur-Toriello Syndrome
Polymicrogyria, Hypoplastic labia majora, Hypoplasia of penis, Dysplastic corpus callosum, Pachyg... ORPHA:2328
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary ORPHA:98889
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Cleft palate, Small scrotum ORPHA:2728
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum OMIM:620001
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Lacrimal gland aplasia, Lacrimal gland hypoplasia, Premature ovarian insufficienc... ORPHA:572333
Meningioma
Focal T2 hypointense thalamic lesion, Increased circulating prolactin concentration, Hydrocephalu... ORPHA:2495
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Ambiguous genitalia, Primary amenorrhea, Fused l... ORPHA:95699
Multiple Endocrine Neoplasia, Type I
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adenoma seba... OMIM:131100
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal cerebral whit... ORPHA:254930
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Impaired sensitivity to thyroid stimulating hormone, Compensated hypothyroidism, Decrease... ORPHA:90673
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst OMIM:617516
Cerebrofacioarticular Syndrome
Short stature, Ventriculomegaly, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corp... ORPHA:314679
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased serum testosterone level, Primary amenorrhea, Increased serum estradio... ORPHA:99429
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Ecto... OMIM:181450
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormality of thalamus morphology ORPHA:435638
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Bloom Syndrome
Premature ovarian insufficiency, Small for gestational age, Retrognathia, Malar flattening, Cheil... ORPHA:125
Pallister-Hall Syndrome
Thyroid dysgenesis, Cryptorchidism, Decreased testicular size, Micropenis, Adrenal hypoplasia, In... OMIM:146510
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus OMIM:619575
Magel2-Related Prader-Willi-Like Syndrome
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Central hypothyroidism, Exte... ORPHA:398069
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Abnormality of the thyroid gland, Hypoparathyroidism, Compensated hypothyroid... ORPHA:209905
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Basal ganglia calcification, Cerebral calcification, Ventriculomegaly, Dysplastic ... OMIM:617281
Woodhouse-Sakati Syndrome
Decreased testicular size, Premature ovarian insufficiency, Micropenis, Diabetes mellitus, Hypopl... OMIM:241080
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Diffuse white matter abnormalities, Abnormal basal gangli... ORPHA:83597
Classic Galactosemia
Oligomenorrhea, Delayed puberty, Decreased fertility in females, Cryptorchidism, Premature ovaria... ORPHA:79239
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum OMIM:604273
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypogonadotropic hypogo... ORPHA:465508
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Decreased thalamic vol... ORPHA:168577
Bosma Arhinia Microphthalmia Syndrome
High palate, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of teeth, Paranasal sinus... OMIM:603457
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Japanese Encephalitis
Abnormality of the internal capsule, Abnormal caudate nucleus morphology, Inappropriate antidiure... ORPHA:79139
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Dilated fourth ventricle... OMIM:619306
Leigh Syndrome
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Neuronal loss... ORPHA:506
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Decreased response to growth hormone stimulation test, Gonadotropin d... OMIM:610978
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Bardet-Biedl Syndrome 1
Decreased testicular size, High palate, Micropenis, Hypogonadism, Abnormality of the ovary, Trunc... OMIM:209900
Holoprosencephaly 9
Abnormal cortical gyration, Cryptorchidism, Micropenis, Anterior pituitary agenesis, Partial agen... OMIM:610829
Orofaciodigital Syndrome I
Abnormal cortical gyration, Cerebral atrophy, Hydrocephalus, Porencephalic cyst, Hypothalamic ham... OMIM:311200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:618569
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Growth delay, Pituitary hypothyroidism, An... ORPHA:1435
Hypothyroidism, Congenital, Nongoitrous, 2
Goiter, Thyroid agenesis, Hypothyroidism, Ectopic thyroid, Decreased circulating T4 concentration... OMIM:218700
Aceruloplasminemia
Diabetes mellitus, Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology, A... ORPHA:48818
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Basal ganglia calcifica... ORPHA:79444
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:293978
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Micropenis, Small pituitary gland, Lateral ventricle dilatation, Ventriculomegaly, Disproportiona... OMIM:619479
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Decreased response to g... ORPHA:94089
Fg Syndrome Type 1
Cryptorchidism, Hydrocephalus, Small pituitary gland, Short stature, Ventriculomegaly, Aplasia/Hy... ORPHA:93932
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary ORPHA:508488
Tetrasomy 9P
High palate, Cryptorchidism, Micropenis, Bifid uvula, Median cleft lip and palate, Amelogenesis i... ORPHA:3310
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Orofaciodigital Syndrome Vi
Polymicrogyria, Short stature, Porencephalic cyst, Hypothalamic hamartoma, Arrhinencephaly, Agene... OMIM:277170
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... OMIM:614924
Orofaciodigital Syndrome Type 6
Short stature, Hypothalamic hamartoma, Bilateral cryptorchidism, Aplasia/Hypoplasia of the corpus... ORPHA:2754
Androgen Insensitivity Syndrome
Delayed puberty, Cryptorchidism, Male infertility, Testicular neoplasm ORPHA:754
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity, Hypointensity of cerebral white matter on MRI, Precocious... ORPHA:845
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism OMIM:222300
Pallister-Hall Syndrome
Hypopituitarism, Ambiguous genitalia, Central adrenal insufficiency, Adrenocorticotropic hormone ... ORPHA:672
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Increased pineal volume, Fasting hyperinsulinemia, Enlarged o... ORPHA:769
Holoprosencephaly 7
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly, Fusion of the left and righ... OMIM:610828
Hartsfield Syndrome
Cryptorchidism, Micropenis, Diabetes insipidus, Gonadotropin deficiency, Microcephaly, Growth del... OMIM:615465
Schimke Immunoosseous Dysplasia
Disproportionate short-trunk short stature, Intrauterine growth retardation, Elevated circulating... OMIM:242900
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Cryptorchidism, Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst OMIM:300967
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Diabetes mellitus, Intrauterine growth retardation, Decreased circulating ... OMIM:610199
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Pseudohypoparathyroidism Type 1A
Elevated calcitonin, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Ba... ORPHA:79443
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Male infertility OMIM:613807
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... OMIM:151100
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Holoprosencephaly 3