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
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Hypergonadotropic hypogonadism, Diabetes melli... OMIM:614963
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
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
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Growth delay, Decreased circulating free T3, Short stature, Abnor... ORPHA:171706
Spermatogenic Failure 4
Azoospermia OMIM:270960
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Phosphoserine Phosphatase Deficiency
Microcephaly, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Diabetes i... ORPHA:95496
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Hypoplasia of the co... ORPHA:67045
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Frontoparietal cortical dysplasia, Pach... OMIM:610031
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Failure to thrive, Abnormality of the dentition ORPHA:2278
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Ventriculomegaly, Microcephaly, Simplified gy... OMIM:608716
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Ectopic poste... OMIM:615849
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism OMIM:261550
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Hypothalamic hamartoma, Diffuse... OMIM:619291
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Abnormality of the dentition OMIM:300604
Sub-Cortical Nodular Heterotopia
Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal cerebral cortex morpholog... ORPHA:101029
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Hypogonadotropic hypogonadism, Cere... ORPHA:54595
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism, Ambiguous genitalia OMIM:601016
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Microcephaly, Short stature, Decreased response to growth hormone stimulation test, Postnatal gro... OMIM:618160
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Obesity, Oligospermia, Type II diabetes mellitus OMIM:615703
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Lissencephaly 4
Agenesis of corpus callosum, Growth delay, Microcephaly, Lissencephaly, Simplified gyral pattern,... OMIM:614019
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Micropenis, Lissencephaly, Pachygyria, Postnatal growth reta... OMIM:300067
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Pachygyria, H... OMIM:611603
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Se... OMIM:301033
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Ventriculomegaly, Partial... ORPHA:85179
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Leukoencephalopathy, Abnormality of thalamus morphology, Hypergonadotropic hypogonadism OMIM:613724
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Morphological abnormality of the cort... ORPHA:238722
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Infertility, Delayed puberty, An... ORPHA:90695
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Severe short stature, Decreased serum insulin-like growth factor 1... OMIM:618157
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Duplication Of The Pituitary Gland
Microcephaly, Abnormal hypothalamus morphology, Abnormality of the pituitary gland, Agenesis of c... ORPHA:314621
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Cryptorchidism, Micropenis, Supernumerary nipple, Interhypothalamic ... OMIM:618929
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Microcephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:616681
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Central Precocious Puberty
Hypothalamic hamartoma, Proportionate short stature, Isosexual precocious puberty, Hydrocephalus,... ORPHA:759
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Septooptic Dysplasia
Diabetes insipidus, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Absent septum pel... OMIM:182230
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism, Agenesis of corpus callosum OMIM:225040
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Bowen Syndrome Of Multiple Malformations
Hypospadias, Agenesis of corpus callosum OMIM:211200
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401820
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Polycystic ovaries, Conical tooth, Hypodo... ORPHA:2228
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Dilated third ventricle, Leukoence... OMIM:619244
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Microcephaly, Se... ORPHA:243
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Simplified gyral pattern, Hypoplasia... OMIM:618492
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical atrophy, Hyp... OMIM:619072
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Short stature, ... OMIM:301035
Mucolipidosis Iv
Microcephaly, Dysplastic corpus callosum, Hypergastrinemia, Cerebral dysmyelination OMIM:252650
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:612702
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 level OMIM:603373
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis ... ORPHA:95494
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Agenesis of corpus callosum ORPHA:1621
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308700
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Ectopic posterior p... OMIM:619476
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Intrauterine growth retardation, Partial agenesis of the corpus callosum, ... OMIM:619025
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern, Microlisse... OMIM:617090
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpu... ORPHA:262767
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Delayed puberty, Panhypopituitarism, D... ORPHA:95619
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Perisylvian polymicrogyria, Ante... ORPHA:280195
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Hypoplastic hippocampus, Agenesis of corpus callosum OMIM:600329
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Malar flattening, Macroorchidism, Abnormal dental enamel morphology, Thin verm... ORPHA:139474
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hyperintensity of cerebral white matter on MRI, Hypothalami... ORPHA:2822
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Dia... ORPHA:411590
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Ventriculomegaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:617669
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Intrauterine growth retardation, Severe short stature, Growth delay, Focal T2 h... OMIM:619057
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Hypospadias OMIM:101805
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Short stature, Postnatal growth retardation, Cortical dysplasia OMIM:608278
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Agenesis of corpus callosum, Cryptorchidism, Parietal cortical atrophy, Microcephaly, Frontal cor... OMIM:618766
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Hypodontia, Carious teeth, Central adrenal insufficiency, Delayed puberty,... OMIM:612079
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Small for gestational age, Cryptorchidism, Micro... ORPHA:1916
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Growth delay, Ventriculomegaly, Mic... ORPHA:2512
Young Syndrome
Azoospermia OMIM:279000
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum OMIM:614924
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Abnormality of the mouth, Decreased fertility, Testicular atrophy OMIM:313200
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Cog2-Cdg
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... ORPHA:435934
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Cryptorchidism, Micropenis, Adrenal hypoplasia, Postnatal growth... OMIM:614732
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Obesity, High, narrow palate, Hyperg... ORPHA:2183
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, S... ORPHA:231720
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Pituitary dwarfism, Anterior hypopituitar... OMIM:221750
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Agenesis of corpus callosum, Mild short stature, Microcephaly, Lissen... OMIM:614833
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropin ... ORPHA:2965
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus OMIM:304100
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Short stature, Decreased response to growth hormone stimulation test, Agenesis of c... OMIM:615286
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Infertility, Primary amenorrhea, Delayed pu... ORPHA:2232
Pallister-Hall-Like Syndrome
Micropenis, Hypothalamic hamartoma, Anterior hypopituitarism, Hydrocephalus OMIM:241800
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Hypospadias ORPHA:2508
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Microcephaly, Nephrogenic diabet... ORPHA:3130
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Basal ganglia calcification OMIM:615361
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of lateral ventricles, Dilate... OMIM:617296
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Myxedema
Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Ventriculomegaly, Abnormal periventricular white ma... OMIM:616900
48,Xxyy Syndrome
Infertility, Delayed eruption of teeth, Open bite, Cryptorchidism, Azoospermia, Obesity, Carious ... ORPHA:10
Warburg Micro Syndrome 1
Cerebral atrophy, Agenesis of corpus callosum, Cryptorchidism, Perisylvian polymicrogyria, Extern... OMIM:600118
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the basal ganglia, Encephalomala... ORPHA:68
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Pituitary null cell adenoma, Amenorr... ORPHA:251937
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Simplified gyral pattern, Agenesis of corpus callosum, H... OMIM:619302
Gaba-Transaminase Deficiency
Agenesis of corpus callosum OMIM:613163
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification ORPHA:314473
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Short stature, Abnormality of thalamus morphology, Focal white matter... ORPHA:557003
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
16P13.2 Microdeletion Syndrome
Hydrocephalus, Cryptorchidism, Dilated third ventricle, Micropenis, Cerebral white matter atrophy... ORPHA:500055
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Temple Syndrome
Cryptorchidism, Short stature, Precocious puberty, Type II diabetes mellitus, Hydrocephalus, Post... ORPHA:254516
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpu... ORPHA:2570
Craniotelencephalic Dysplasia
Absent septum pellucidum, Lissencephaly, Agenesis of corpus callosum, Arrhinencephaly OMIM:218670
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:616342
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Corticospinal tract hypoplasia, Ventriculomeg... ORPHA:255138
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Hydrocephalus, A... ORPHA:1528
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly,... OMIM:618577
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Microcephaly, Dilated third ventricle, Abnormal periventricular white matter morphology OMIM:619725
Orofaciodigital Syndrome Xv
Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Hyperintensity of cerebral white matter on MRI... ORPHA:544488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Micropenis, Anencephaly, Ventriculomegaly, Dandy-Walker malformation... OMIM:615287
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Microcephaly, Thyroiditis, Short stature, Decreased serum insulin-like growth factor 1, Postnatal... OMIM:618985
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Cryptorchidism, Micropenis, Shawl scrotum, Ventriculomegaly, Decreas... OMIM:615433
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormality of the basal ganglia, Primary microcephaly, Small basa... ORPHA:300570
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased circulating T4 level, Decreased thyroid-stimulating hormone level, Abnormality of thyro... ORPHA:95715
Oculocerebrocutaneous Syndrome
Cryptorchidism, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the corpus ... OMIM:164180
Delpire-Mcneill Syndrome
Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Agenesis of corpus callosum, Cryptorchidism, M... OMIM:147950
Müllerian Aplasia And Hyperandrogenism
Short philtrum, Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Obesity... ORPHA:247768
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration ORPHA:95717
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Hydrocele testis, Micropenis OMIM:618810
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Hydranencephaly, Ventriculomegaly, Microcephaly, Dandy-Walker malfor... OMIM:225790
Short Stature, Dauber-Argente Type
Microcephaly, Fasting hyperinsulinemia, Postnatal growth retardation, Short stature OMIM:619489
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Ventriculomegaly, Multifocal hyperintensity... ORPHA:488627
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Ventriculomegal... ORPHA:2524
Lissencephaly, X-Linked, 2
Agenesis of corpus callosum, Micropenis, Ventriculomegaly, Lissencephaly, Pachygyria, Ambiguous g... OMIM:300215
Holoprosencephaly 5
Microcephaly, Dilation of lateral ventricles, Central diabetes insipidus, Hydrocephalus OMIM:609637
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus ORPHA:2182
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Ov... ORPHA:314478
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly, Short stature, Hypo... OMIM:218350
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Hypoplastic labia majora, Hypoplasia of penis, Pachygyria, Polymicrog... ORPHA:2328
Gapo Syndrome
Abnormal palate morphology, Long philtrum, Amenorrhea, Dysmenorrhea, Delayed eruption of teeth, E... ORPHA:2067
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Cryptorchidism, Hypopituitarism, Ventriculomegaly, Hypoplasia of the... OMIM:603671
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Cach Syndrome
Cerebral atrophy, Primary amenorrhea, T2 hypointense thalamus, Dysgyria, Microcephaly, Secondary ... ORPHA:135
X-Linked Lissencephaly With Abnormal Genitalia
Agenesis of corpus callosum, Cryptorchidism, Ventriculomegaly, Hypoplasia of penis, Microcephaly,... ORPHA:452
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Microcephaly, Agenesis of corpus callosum, Micropenis OMIM:610680
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormal response to ACTH stimulati... ORPHA:157954
48,Xxxy Syndrome
Infertility, Small scrotum, Delayed eruption of teeth, Open bite, Cryptorchidism, Azoospermia, Ob... ORPHA:96263
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Micropenis, Decreased serum testosterone concentration, Decreased serum estradio... ORPHA:2959
Qazi-Markouizos Syndrome
Drooling, Cryptorchidism, Open mouth, High, narrow palate, Hypoplasia of teeth, Broad philtrum ORPHA:3010
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Intrauterine growth retardation, Hypoplasti... ORPHA:2177
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Chordee, Cryptorchidism, U... OMIM:618820
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Micropenis, Endometriosis, Ventriculomegaly, Premature ovarian insuff... ORPHA:363444
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Blue Diaper Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration ORPHA:94086
Distal Trisomy 18Q
High palate, Cryptorchidism, Abnormality of female external genitalia, Carious teeth, Hypoplasia ... ORPHA:1716
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Isolated Exencephaly
Maternal diabetes, Posterior pituitary agenesis, Agenesis of corpus callosum, Anterior pituitary ... ORPHA:563612
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Agenesis of corpus callosum, Cavum septum pellucidum, Dilated t... ORPHA:464738
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Azoospermia, Micrognathia, Bicornuate uterus, Hypoplasia of the uterus, Cleft pa... OMIM:601076
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Ventriculomegaly, Microcephaly, Simplified gyral pattern, Short statu... OMIM:619179
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia,... ORPHA:786
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:619755
Ohdo Syndrome
Narrow mouth, Small scrotum, Long philtrum, Cryptorchidism, Widely spaced teeth, Micrognathia, Hy... OMIM:249620
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Ventriculomegaly, Microcephaly, Decreased ... ORPHA:370959
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Long philtrum, Small for gestational age, Clitoral hypoplasia, Oligospermia, Failure to thrive, D... OMIM:614813
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Fusion of the left and right thalami, Splenogonadal fusion, Agenesis of corpu... OMIM:156810
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormality of thalamus morphology, Abnormal putamen morphology ORPHA:88619
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Intrauterine growth retardation, Micro... OMIM:609981
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Infertility, Premature pubarche, Primary am... ORPHA:398079
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Severe intrauterine growth retardation, Ventriculomegaly, Microcephal... OMIM:241410
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Harrod Syndrome
Narrow mouth, High palate, Cryptorchidism, High, narrow palate, External genital hypoplasia, Fail... OMIM:601095
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus OMIM:304900
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Dilated thir... ORPHA:397715
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Ventriculomegaly, Abnormality of the... ORPHA:59315
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Intrauterine growth retardation, Dilated fourth ventricle, Primary mi... ORPHA:357058
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Neuroferritinopathy
Abnormality of the basal ganglia, Abnormal caudate nucleus morphology, Caudate atrophy, Iron accu... ORPHA:157846
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Small for gestational age, Delay... ORPHA:330015
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Cryptorchidism, Partial agenesis of the corpus callosum, Microcephaly... OMIM:619103
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Dilation of lateral ventricles, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:618736
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Urethral stricture, Enamel hypoplasia OMIM:226670
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Oligomenorrhea, Hypopituitarism,... ORPHA:95613
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Anterior pitu... OMIM:206900
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Weight lo... ORPHA:85450
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Short stature, Abnormality of the anterior pituitary, Intrauterin... ORPHA:75389
Craniosynostosis 6
Microcephaly, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Dandy-Walker malf... OMIM:616602
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosu... ORPHA:3157
Meckel Syndrome 12
Microcephaly, Vaginal atresia, Agenesis of corpus callosum, Cerebral hypoplasia OMIM:616258
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Short stature, Secondary microcephaly OMIM:619423
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased ... ORPHA:91355
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Hashimoto thyroiditis, Grav... ORPHA:64744
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Microdontia, Supernumerary tooth, Agen... OMIM:619718
Holoprosencephaly 11
Microcephaly, Agenesis of corpus callosum OMIM:614226
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity ORPHA:543
Aarskog-Scott Syndrome
Cleft upper lip, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, D... OMIM:305400
Slc35A2-Cdg
Cerebral atrophy, Intrauterine growth retardation, Hypoplastic hippocampus, Cerebral white matter... ORPHA:356961
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Hydrolethalus
Agenesis of corpus callosum, Cryptorchidism, Anencephaly, Abnormal fallopian tube morphology, Hyd... ORPHA:2189
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Microhydranencephaly
Agenesis of corpus callosum, Hydranencephaly, Ventriculomegaly, Microcephaly, Pachygyria OMIM:605013
Prader-Willi Syndrome
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Central adrenal insufficiency... ORPHA:739
Epidermolysis Bullosa, Junctional 1B, Severe
Failure to thrive, Carious teeth, Enamel hypoplasia OMIM:226700
Aicardi Syndrome
Cavum septum pellucidum, Dilated third ventricle, Partial agenesis of the corpus callosum, Microc... OMIM:304050
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Hypoplasminogenemia
Abnormality of the ovary, Periodontitis, Abnormal fallopian tube morphology, Gingivitis, Cervicit... ORPHA:722
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Microlissencephaly OMIM:601160
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Abnormal basa... ORPHA:363558
Bilateral Perisylvian Polymicrogyria
Microcephaly, Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian polymicrogyr... ORPHA:98889
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Ventriculomegaly, Abnormal periventricular white matter morphology, ... OMIM:618476
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Short stature OMIM:277170
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Vent... ORPHA:1827
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morp... ORPHA:79264
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Diabetes m... OMIM:241080
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Nephrogenic d... ORPHA:3145
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Abnormal globus pallidus morphology, ... ORPHA:70474
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Short stature, Elevated circul... ORPHA:94089
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Decreased circulating T4 level, Elevated circulat... ORPHA:226316
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Intrauterine growth retardation, Cryptorchidism, Mild ... OMIM:101800
Fanconi Anemia, Complementation Group I
Hypothyroidism, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retardation, Micro... OMIM:609053
Curry-Jones Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Hemimegalencephaly, Megalencephaly, Polymicrogyria OMIM:601707
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Carious teeth, Endometriosis OMIM:613680
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Carney Complex
Abnormal hard palate morphology, Testicular adrenal rest tumor, Abnormal morphology of female int... ORPHA:1359
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Micropenis, Carious teeth, Retrognathia, Cleft palate, Decreased t... OMIM:147770
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebral atrophy, Dilated third ventricle, Abnormal cerebral white matter morphology ORPHA:314404
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevate... OMIM:131100
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:444013
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Pr... ORPHA:500144
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Short st... ORPHA:314679
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum, Hydrocephalus OMIM:610828
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormality of thalamus morphology ORPHA:404440
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate ORPHA:2728
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dilated third ventricle, Open operculum, Partial agenesis of the corpus... ORPHA:434179
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Short stature, Hypoplasia of the cor... OMIM:617260
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cryptorchidism, Porencephalic cyst, Dandy-Walker malf... OMIM:613001
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Hypothyroidism, Hypoplasia of the corpus callosum OMIM:618569
Bloom Syndrome
Small for gestational age, Azoospermia, Micrognathia, Oligospermia, Cheilitis, Malar flattening, ... ORPHA:125
Acrofacial Dysostosis, Catania Type
Abnormal palate morphology, Cryptorchidism, Carious teeth, Microretrognathia, Smooth philtrum, Hy... ORPHA:1786
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Chordee, Intrauterine growth retardation, Bilateral cryptorchidism, Postnatal gro... ORPHA:96179
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Delayed p... OMIM:181450
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Allan-Herndon-Dudley Syndrome
Microcephaly, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:300523
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... ORPHA:99429
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology, Hypoplasia of ... ORPHA:254930
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Growth delay, Abnormal basal ganglia MRI signal intensity... ORPHA:485421
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Microcephaly, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus ... ORPHA:139471
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Infertility, Small scrotum, Premature pubarche, Primary amenorrhea, Centra... ORPHA:398069
Pallister-Hall Syndrome
Hypothalamic hamartoma, Intrauterine growth retardation, Cryptorchidism, Panhypopituitarism, Micr... OMIM:146510
Microform Holoprosencephaly
Hypothyroidism, Agenesis of corpus callosum, Maternal diabetes, Intrauterine growth retardation, ... ORPHA:280200
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy ORPHA:435638
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst OMIM:617516
Brain-Lung-Thyroid Syndrome
Agenesis of corpus callosum, Cavum septum pellucidum, Abnormality of the thyroid gland, Thyroid d... ORPHA:209905
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Cryptorchidism, Growth delay, Hypoplasia of penis, Hydrocephalus, Hy... ORPHA:77298
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Cryptorchidism, Carious teeth, Narrow maxilla, Failure to thrive, Dental crowding, H... OMIM:617602
Bosma Arhinia Microphthalmia Syndrome
Hypoplastic labia majora, Hypogonadotropic hypogonadism, High palate, Primary amenorrhea, Paranas... OMIM:603457
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Hyperintensity of cerebral white matter on MRI, Cerebral atrophy, T2 hypointense thalamus, Miscar... ORPHA:1947
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Agenesis of corpus callosum, Intrauterine growth retardation, Cryptorchidism, Micr... OMIM:257300
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Ovotestis, Agenesis of corpus callosum, Chordee, Micropenis, Microcephaly, Hydrocep... OMIM:309801
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Decreas... ORPHA:79239
Holoprosencephaly 9
Abnormal cortical gyration, Anterior pituitary hypoplasia, Panhypopituitarism, Cryptorchidism, Mi... OMIM:610829
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Hypogonadotropic hypogonadism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508