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

IMPC Data Collections

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

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.

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.

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
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Multiple non-erupting secondary teeth, R... OMIM:620277
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Ven... OMIM:604213
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Recurrent sinusitis, Reduced sperm motil... OMIM:620438
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism,... OMIM:615849
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Ectopic pos... ORPHA:67045
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse cerebral atrophy, Hypot... OMIM:619291
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormal basal ganglia morphology, Decreased thalamic volume OMIM:618646
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus morph... ORPHA:397725
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... ORPHA:500166
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Craniopharyngioma
Delayed puberty, Enlarged pituitary gland, Central diabetes insipidus, Postnatal growth retardati... ORPHA:54595
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus OMIM:615703
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Microcephaly, Elevated circulating follicle stimulating hormone l... OMIM:614129
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Impaired growth-hormone response to insuli... OMIM:618157
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... ORPHA:168563
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Duplication Of The Pituitary Gland
Microcephaly, Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of ... ORPHA:314621
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Interhypothalamic adhesion, Agenesis of corpus callosum, Cryptorchidism, Mi... OMIM:618929
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Fusion of the left and right thalami, Abnormality of ... OMIM:617542
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Unilateral cryptorchidism, Probst bundles, Agenesis of corpus callosum, Ven... OMIM:618286
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:182230
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... OMIM:619244
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Leukoencephalopathy, Azoospermia, Hypergonadotropic hypogo... OMIM:613724
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Hypoplasia of the corpus callosum, T2 hypointense thalamus, Cerebral cortical atrophy, Basal gang... OMIM:618193
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Decreased thalamic volume, Microcephaly, Cerebral cortical atr... OMIM:619072
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Micro... ORPHA:243
Tubulinopathy-Associated Dysgyria
Dysgyria, Abnormality of the internal capsule, Abnormal corpus callosum morphology, Abnormal thal... ORPHA:467166
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Anterior pituitary hyp... OMIM:173100
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Diffuse cerebral atrophy, Decreased thalamic volume OMIM:613668
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Frasier Syndrome
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:347
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Small pituita... OMIM:619476
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Neurodevelopmental Disorder With Language Delay And Seizures
Thin corpus callosum, Hypothalamic hamartoma, Hypothyroidism, Diffuse cerebral atrophy, Cryptorch... OMIM:619908
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Abnormal la... ORPHA:251510
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:612702
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic anteri... ORPHA:171680
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus... ORPHA:363717
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Growth delay, Severe short stature, Intr... OMIM:619057
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Thalamic calcification, Basal ganglia calcification OMIM:615483
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Small pituitary gland, Secondary mic... OMIM:617395
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a... ORPHA:2822
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Basal ganglia calcification OMIM:618824
Cog2-Cdg
Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Small pituitary gland, Secondary mic... ORPHA:435934
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus... ORPHA:2183
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Young Syndrome
Azoospermia OMIM:279000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614880
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis o... OMIM:615286
17Q11.2 Microduplication Syndrome
Thin vermilion border, Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Ma... ORPHA:139474
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Mucolipidosis Iv
Microcephaly, Cerebral dysmyelination, Hypergastrinemia, Dysplastic corpus callosum OMIM:252650
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Microcephaly, Central adrenal insufficiency, Hypogonadotr... OMIM:612079
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Developmental And Epileptic Encephalopathy 108
Thin corpus callosum, Small pituitary gland OMIM:620115
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
48,Xyyy Syndrome
Thick lower lip vermilion, Azoospermia, High palate, Enamel hypoplasia, Irregularly spaced teeth,... ORPHA:99329
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... ORPHA:95512
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Anterior pit... OMIM:618160
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Small pituitary gla... ORPHA:2232
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Hypogonadotropic hypogonadism, Agenesis of corpus callosum ORPHA:238722
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Basal ganglia calcification OMIM:618317
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Cryptorchidism, Hypospadias, Intrauterine growth retardation OMIM:620135
48,Xxyy Syndrome
Thick lower lip vermilion, Broad jaw, Azoospermia, Hypoplasia of penis, Delayed eruption of teeth... ORPHA:10
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Odontogenic keratocysts of the jaw ORPHA:314473
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventr... OMIM:617296
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Panhypopituitarism, Oligozoosperm... ORPHA:91351
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology OMIM:619725
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Decreased response to growth hormone stim... OMIM:221750
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Hydrocephalus, Cerebral white ma... ORPHA:500055
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Growth delay, Elevated circulating follicle stimulating hormone le... OMIM:620501
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions, Short stature ORPHA:557003
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Bilateral cryptorchidism, Lateral ventricle ... ORPHA:544488
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased te... OMIM:616113
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Amoebiasis Due To Free-Living Amoebae
Abnormality of the adrenal glands, Abnormal basal ganglia morphology, Abnormal hypothalamus morph... ORPHA:68
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Müllerian Aplasia And Hyperandrogenism
Short philtrum, Abnormal vagina morphology, Abnormality of the ovary, Obesity, Cleft palate, Prim... ORPHA:247768
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma, Microcephaly, Short stature, Mic... OMIM:241800
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Microcephaly, Short stature, Elevated circulating growth hormone co... OMIM:608747
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Microcephaly, ... ORPHA:3130
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Pituitary Adenoma 1, Multiple Types
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... OMIM:102200
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Acrofacial Dysostosis, Catania Type
Hypospadias, Carious teeth, Micrognathia, Cleft palate, Malar flattening, Cryptorchidism OMIM:101805
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum... OMIM:619737
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Hydrocephalus, Pituitary ... ORPHA:91350
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Retrognathia, Decreased response to growth hormone stimulation test, Azoospermia... ORPHA:280679
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,... OMIM:614732
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced... OMIM:613038
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Postnatal growth retardation, Normal pressure hydrocephalus, A... ORPHA:300570
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Lead Poisoning
Delayed puberty, Decreased male libido, Delayed eruption of teeth, Infertility, Oligozoospermia, ... ORPHA:330015
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Thin corpus callosum, Progressive microcephaly, Cortical dyspl... OMIM:615574
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor... OMIM:616900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Lateral... OMIM:613154
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Cach Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, T2 hypointense thalamus, Cerebr... ORPHA:135
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Carious teeth, Velopharyngeal insufficiency, Micr... OMIM:613680
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Cleft upper lip, Micrognathia, Cleft palate, Hypoplasia of the ut... OMIM:601076
48,Xxxy Syndrome
Azoospermia, Hypoplasia of penis, Delayed eruption of teeth, Abnormal dental enamel morphology, I... ORPHA:96263
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Decreased thalamic volume, Microcephaly, Di... ORPHA:370959
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Cerebral infarct ORPHA:254881
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Gapo Syndrome
Abnormal palate morphology, Delayed eruption of teeth, Mandibular prognathia, Oligozoospermia, Ev... ORPHA:2067
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Maternal diabetes, Posterior pituitar... ORPHA:563612
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Hypospadias, Cholelithiasis, Cavum septum pe... ORPHA:464738
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema ORPHA:88619
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum OMIM:619955
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Postnatal growth retardation, Decreased response to growth hor... OMIM:241410
Ohdo Syndrome
Long philtrum, Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Mic... OMIM:249620
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasi... OMIM:233420
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Polymicrogyria, Hypothalamic hamartoma, Ventriculomegaly, Partial agenesis ... OMIM:619775
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Hypospadias, Abnormal thalamus morphology, Hypergonado... ORPHA:2959
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Abnormal cortical gyration, Progre... ORPHA:2524
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Thin corpus callosum, Cerebral calcification, Corpus callosum atrophy, Microcephaly, Cerebral ede... OMIM:620371
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Hypospadias, Abnormal basal ganglia morphology, Dandy-Walker malformat... ORPHA:397715
Rhombencephalosynapsis
Hydrocephalus, Septo-optic dysplasia, Fusion of the left and right thalami, Abnormality of the ut... ORPHA:59315
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Abnormal putamen morphology, Eye... ORPHA:157846
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, External genital hypoplasia, Small scrotum, Small pituitary gland, Hypoplasti... ORPHA:398079
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, T2 hypointense thalamus, Hyperintensity of cerebral white matter on MRI ORPHA:1947
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Short stature, Agenesis of corpus callo... OMIM:614833
Burkitt Lymphoma
Neoplasm of the oral cavity, Abnormality of the ovary ORPHA:543
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death, Micropenis, Hydrocele testis OMIM:618810
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Hypoplasia of penis, Anterior pituitary hypoplasia, Septo-... ORPHA:3157
Hydranencephaly
Postnatal growth retardation, Cerebral cortical atrophy, Dysgenesis of the thalamus, Abnormal cor... ORPHA:2177
Microphthalmia, Syndromic 3
Hypoplasia of the corpus callosum, Postnatal growth retardation, Hypospadias, Anterior pituitary ... OMIM:206900
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume OMIM:301108
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Delayed puberty, Supernumerary tooth, Agenesis of molar, Hypospadias, Microdontia, Diastema, Cryp... OMIM:619718
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
X-Linked Lissencephaly With Abnormal Genitalia
Hypoplasia of penis, Microcephaly, Pachygyria, Agenesis of corpus callosum, Ambiguous genitalia, ... ORPHA:452
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu... ORPHA:3464
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Mandibular prognathia, Oligozoospermia, Abnormality of the dentition, Clitoral... OMIM:614813
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Hypoplasia of the maxilla, Cleft upper lip, Failure to... OMIM:305400
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Postnatal growth retardation, Dandy-Walker ma... ORPHA:357058
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Posterior pituitary hypoplasia, Abnormality of the anterior pitu... ORPHA:75389
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Perisylvian polymicrogyr... ORPHA:739
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Chronic sinusitis, Azoospermia OMIM:618300
Hypoplasminogenemia
Abnormal fallopian tube morphology, Periodontitis, Gingival overgrowth, Abnormality of the ovary,... ORPHA:722
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Gonadal dysgenesis, Clitoral hypertrophy, Hyp... OMIM:618820
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Sheehan Syndrome
Breast hypoplasia, Central diabetes insipidus, Amenorrhea, Reduced circulating prolactin concentr... ORPHA:91355
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Focal T2 hyp... ORPHA:363558
Even-Plus Syndrome
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum OMIM:616854
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Abnormal cerebral white matter morpholog... ORPHA:79264
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Oral leukoplakia OMIM:618165
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc... ORPHA:488627
Aicardi Syndrome
Postnatal growth retardation, Cavum septum pellucidum, Polymicrogyria, Dandy-Walker malformation,... OMIM:304050
Neurooculorenal Syndrome
Decreased circulating ACTH concentration, Central hypothyroidism, Decreased circulating cortisol ... OMIM:620305
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... OMIM:602668
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Small pituitary gland OMIM:614195
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:94089
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Intrauterine growth retardation, Abnorm... ORPHA:2570
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Premature ovarian insufficiency, Hypospadias, Endometriosis, Thin lower lip vermili... ORPHA:363444
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity ORPHA:309155
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Epispadias, Dandy-Walker malformation, Open operculum, Dilated... ORPHA:434179
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Cryptorchidism ORPHA:404440
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Short stature, Simpl... OMIM:619179
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal... ORPHA:485421
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary ORPHA:98889
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Dilated third ventricle, Abnormal cerebral white matter morphology ORPHA:314404
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Hypospadias, Focal polymicrogyria, Microcephaly, Cryptorchidism, Part... OMIM:619103
Glycosylphosphatidylinositol Biosynthesis Defect 17
Microcephaly, Growth delay, Dysplastic corpus callosum OMIM:618010
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Cerebral co... OMIM:151050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal thalamic MRI signal intensity, Abnormal cerebral whit... ORPHA:254930
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Hypoplasia of penis, Polymicrogyria, Pachygyria, Hypoplastic labia ma... ORPHA:2328
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate, Small scrotum, Cryptorchidism ORPHA:2728
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Dysplastic corpus callosum OMIM:620001
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst OMIM:617516
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hypospadias, Microcephaly, Absence... ORPHA:314679
Bloom Syndrome
Retrognathia, Premature ovarian insufficiency, Male infertility, Cheilitis, Azoospermia, Oligozoo... ORPHA:125
Complete Androgen Insensitivity Syndrome
Delayed puberty, Increased circulating antimullerian hormone concentration, Abnormal circulating ... ORPHA:99429
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormal thalamus morphology ORPHA:435638
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, External genital hypoplasia, Small pituitary gland, Hypoplastic labia minora,... ORPHA:398069
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Mic... OMIM:617281
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Ectopic p... OMIM:181450
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Hypoplasia of the corpus callosum, Ectopic anterior pituitary gland, Pachygyria OMIM:620558
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Classic Galactosemia
Delayed puberty, Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligome... ORPHA:79239
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Weight l... ORPHA:465508
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hypothalamic hamartoma, Panhypopituitarism... OMIM:146510
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima... ORPHA:3109
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Intracerebral periventricular calcifications, Decreased thalamic vo... ORPHA:168577
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum OMIM:604273
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia morphology, Hypointensity of cereb... ORPHA:83597
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypoplasia of teeth, C... OMIM:603457
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormality of the internal capsule, Abnormal thalamus mor... ORPHA:79139
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Fusion of the left and right thalami... OMIM:619306
Bardet-Biedl Syndrome 1
High, narrow palate, Truncal obesity, Dental crowding, High palate, Abnormality of the ovary, Dec... OMIM:209900
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Diabetes mellitus, Abnormal pancreas morphology, Abnormal... ORPHA:48818
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Short stature, Dysplastic corpus callosum OMIM:619423
Leigh Syndrome
Hypoplasia of the corpus callosum, Abnormal thalamic MRI signal intensity, Neuronal loss in basal... ORPHA:506
Orofaciodigital Syndrome I
Cerebral atrophy, Abnormal cortical gyration, Hydrocephalus, Hypothalamic hamartoma, Porencephali... OMIM:311200
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Hypothyroidism, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:618569
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Hydrocephalus, Short stature, Ventriculomegaly, Aplasia/Hypop... ORPHA:93932
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypoplasia of the corpus callosum, Hypospadias, Small pituitary gland, Disproportionate short-lim... OMIM:619479
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary ORPHA:508488
Tetrasomy 9P
Amelogenesis imperfecta, Abnormal number of permanent teeth, Short philtrum, Dental crowding, Abn... ORPHA:3310
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity, Ventriculomegaly, Hypointensity of ce... ORPHA:845
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Bilateral cryptorchidism, Short stature, Growth delay, Aplasia/Hypoplasia... ORPHA:2754
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Orofaciodigital Syndrome Vi
Polymicrogyria, Hypothalamic hamartoma, Porencephalic cyst, Short stature, Agenesis of corpus cal... OMIM:277170
Pallister-Hall Syndrome
Hypothalamic hamartoma, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Intraut... ORPHA:672
Holoprosencephaly 7
Hydrocephalus, Panhypopituitarism, Fusion of the left and right thalami, Microcephaly, Agenesis o... OMIM:610828
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Hypoplastic male external genitalia, High palate, Talon cu... ORPHA:2751
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Hypothyroidism, Precocious puberty, Increased pineal volume, ... ORPHA:769
Hartsfield Syndrome
Hypospadias, Diabetes insipidus, Gonadotropin deficiency, Microcephaly, Growth delay, Agenesis of... OMIM:615465
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Delayed puberty, Cryptorchidism, Thick corpus callosum, Pineal cyst OMIM:300967
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Leopard Syndrome 1
Delayed puberty, Hypospadias, Hypoplasia of the ovary, Delayed menarche, Cryptorchidism, Micropen... OMIM:151100
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
X-Linked Intellectual Disability, Snyder Type
Thick lower lip vermilion, Hypospadias, Short philtrum, Dental crowding, Mandibular prognathia, H... ORPHA:3063
Alg9-Cdg
Cerebral atrophy, Hypoplasia of the ovary, Progressive microcephaly, Hypoplastic nipples, Bicornu... ORPHA:79328
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Hashim... ORPHA:227982
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Hydrocephalus, Microcephaly, Decreased testicular size, Micropenis OMIM:619321
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hypoplasia of the corpus callosum, Delayed puberty, Dysplastic corpus callosum, Anterior pituitar... ORPHA:466791
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Thin corpus callosum, Abnormal cortical gy... OMIM:610829
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Hypospadias, Microcephaly, Cerebral cortical atrophy, Birth le... ORPHA:464311
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Abnormality of the diencephalon, Hydrocephalus ORPHA:2720
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgenesis, Thymom... ORPHA:227990
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormal basal ganglia morphology, Thalamic hemorrhage ORPHA:464321
Zttk Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Dysplastic corpus callosum, Shor... OMIM:617140
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Abnormality of the endocrine system, Hypoplas... ORPHA:110
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Enamel-Renal Syndrome
Amelogenesis imperfecta, Abnormal circulating calcium-phosphate regulating hormone concentration,... ORPHA:1031
Witteveen-Kolk Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Decreased response to growth hormo... OMIM:613406
17Q24.2 Microdeletion Syndrome
Secondary amenorrhea, Pineal cyst ORPHA:529962
Diphallia
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... ORPHA:227
White-Kernohan Syndrome
Dysplastic corpus callosum, Hypothyroidism, Rectovaginal fistula OMIM:619426
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Annular pancreas, Hypospadias, Cerebral cortical atrophy, Cent... ORPHA:798
Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Agenesis of pineal gland, Hypogonadism ORPHA:536471
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Oculoectodermal Syndrome
Supernumerary nipple, Pineal cyst OMIM:600268
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ischemic stroke, Dysplastic corp... ORPHA:500150
Neutral Lipid Storage Myopathy