Gene Summary

Name:
geminin coiled-coil domain containing
Synonyms:
LOC239789,  LOC385639,  Gm606

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating sodium level Gmnctm1b(KOMP)Wtsi HET Early adult 4.86×10-07
increased grip strength Gmnctm1b(KOMP)Wtsi HET Early adult 7.21×10-07

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Human diseases caused by Gmnc mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Bowen-Conradi Syndrome
Cryptorchidism, Abnormal lung lobation, Ventriculomegaly, Severe intrauterine growth retardation,... ORPHA:1270
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Young Syndrome
Recurrent bronchitis, Decreased fertility, Obstructive azoospermia, Recurrent sinopulmonary infec... ORPHA:3471
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections OMIM:215520
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, Male hypogonadism, Azoospermia OMIM:241000
Ciliary Dyskinesia, Primary, 15
Infertility, Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Immotile sperm, Abnormal axone... OMIM:613808
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Short stature, Chronic sinusitis, Recurrent respiratory infections, Abnormal cent... OMIM:612650
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus, Wide nasal bridge OMIM:209970
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent... OMIM:615444
Mental Retardation, Autosomal Dominant 48
Anteverted nares, Hypoplasia of the corpus callosum, Microcephaly, Dilated fourth ventricle, Poly... OMIM:617751
16P13.2 Microdeletion Syndrome
Cryptorchidism, Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ven... ORPHA:500055
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Absent... OMIM:614935
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent respirat... OMIM:610852
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Shor... ORPHA:2183
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Bronchiectasis, Nasal polyposis, Anosmia, Pneumonia, Sinusitis, Chronic r... OMIM:244400
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Intellectual Developmental Disorder, X-Linked 103
Cryptorchidism, Anteverted nares, Ventriculomegaly, Polymicrogyria, Micropenis OMIM:300982
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Bronchiectasis, ... ORPHA:244
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Recurrent upper respira... ORPHA:99330
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotro... OMIM:614837
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Immotile sperm, Chronic rhinit... OMIM:242670
Young Syndrome
Recurrent bronchitis, Azoospermia, Bronchiectasis, Recurrent sinopulmonary infections, Congenital... OMIM:279000
Ciliary Dyskinesia, Primary, 2
Infertility, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Sinusitis, Recu... OMIM:606763
Polyrrhinia
Supernumerary naris, Abnormal third ventricle morphology, Abnormality of the nasal bone, Dilation... ORPHA:141091
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Cach Syndrome
T2 hypointense thalamus, Growth delay, Cerebral atrophy, Primary amenorrhea, Secondary amenorrhea... ORPHA:135
Ciliary Dyskinesia, Primary, 11
Bronchiectasis, Recurrent sinusitis, Chronic bronchitis, Short stature, Recurrent respiratory inf... OMIM:612649
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bulbous nose, Bilateral cryptorchidism, Dysplastic corpus callosum, Hyperintensity of cerebral wh... ORPHA:544488
Mehmo Syndrome
Male hypogonadism, Depressed nasal tip, Hypoplasia of the corpus callosum, Ventriculomegaly, Obes... OMIM:300148
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... ORPHA:432
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Microcephaly 19, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Decreased body weight, Failure to thrive in ... OMIM:617800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Colpocephaly, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ven... ORPHA:397715
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Bulbous nose, Truncal obesity, Failure to thrive, Short stature, Intrauterine gro... ORPHA:261483
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Ventriculomegaly, Cerebral cortical atrophy ORPHA:1568
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Temple Syndrome
Cryptorchidism, Maturity-onset diabetes of the young, Overweight, Truncal obesity, Small for gest... OMIM:616222
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Bronchiectasis, Immotile sperm, Recurrent sinusitis, Absent central microtu... OMIM:617091
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral white matter hypoplasia, Wi... ORPHA:3207
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia, Type II diabetes mellitus, Obesity OMIM:615703
Familial Nasal Acilia
Bronchiectasis, Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Abn... ORPHA:922
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Increased CSF lactate, Ventri... ORPHA:79243
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Depressed nasal tip, Bulbous nose, Choroid plexus cyst, Abnormal caudate n... ORPHA:293725
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Nasal polyposis, Abnormal respiratory motile cilium morphology, Sinusitis OMIM:242680
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Nasal congestion, Absent outer dynein arms, Nasal polyposis, Recurrent respirator... OMIM:616037
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Pulmonary fibrosis, Streak ovary, Primary amenorrhea, D... ORPHA:243
49,Xxxyy Syndrome
Ambiguous genitalia, Male hypogonadism, Increased circulating gonadotropin level, Recurrent upper... ORPHA:261534
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Flared nostrils, Delayed puberty, Short stature, Dec... ORPHA:280679
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Chronic sinusitis OMIM:612518
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Small cerebral cortex, Abnormal cerebral morphology, Simplified gyral pattern, ... ORPHA:329228
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure to thrive in infancy... ORPHA:284417
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism, Hyposmia, Leukoe... OMIM:613724
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Ventriculomegaly, Type ... ORPHA:10
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Biemond Syndrome Type 2
Delayed puberty, Short stature, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydroce... ORPHA:141333
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Cryptorchidism, Ventriculomegaly, Abnormal cerebral white matter... OMIM:617557
Tetraamelia Syndrome 1
Urethral atresia, Hydrocephalus, Hypoplasia of the fallopian tube, Choanal atresia, Absent extern... OMIM:273395
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Hydrocephalus, Decreased female libido, Pituitary gona... ORPHA:91348
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Anosmia, Primary amenorrhea, Hyposmia, Decreased testicular size, Mi... OMIM:614897
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Reduced sperm motility, Bronchiectasis, Absent inner dynein arms, Immotile s... OMIM:613807
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Chole... ORPHA:464738
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Growth delay, Microcephaly, Dilation of lateral ventricles ORPHA:85290
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Absent inner dynein arms, Absent outer dynein arms, Sinusitis OMIM:613193
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the nares, Short stature, Decreased t... OMIM:300845
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Simplified gyral pattern OMIM:615763
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Porencephaly
Ventriculomegaly, Porencephalic cyst ORPHA:2940
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Nasal polyposis, Abnormality of the nose, Neoplasm of the nose, Neop... ORPHA:2869
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Recurrent upper respiratory tract infections, Dilated fourth ventricle, Small for ges... ORPHA:3078
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia, Short stature ORPHA:2578
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Cog5-Cdg
Cryptorchidism, Cerebral white matter atrophy, Wide nasal bridge, Short stature, Intrauterine gro... ORPHA:263487
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Pontocerebellar Hypoplasia, Type 13
Pleural effusion, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Dilation of lateral... OMIM:618606
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Agenesis of corpus callosum, Short nose, Hypoplasia of the corpus callosum, Hypop... OMIM:618577
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea, Holoprosencephaly, Short stature, Diabetes insipidus, Micro... ORPHA:1445
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Alg13-Cdg
Anteverted nares, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Microcephaly, Dilation of... OMIM:304050
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive, Hypospadias ORPHA:250994
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Anteverted nares, Hydrocephalus OMIM:300884
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Glutamine Deficiency, Congenital
Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, Subependymal cysts, Anteverted ... OMIM:610015
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Intrauterine growth retardation, Cer... ORPHA:939
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum... ORPHA:565624
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Cerebral Palsy, Spastic Quadriplegic, 2
Ventriculomegaly, Cerebral atrophy OMIM:612900
Macdermot-Winter Syndrome
Ventriculomegaly, Microcephaly, Hypoplastic male external genitalia, Intrauterine growth retardation OMIM:247990
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Recurrent respiratory infections, Bronchiectasis, ... OMIM:614679
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Recurrent upper respiratory tract infections, Primary gonadal ins... ORPHA:99329
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... OMIM:308700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Abnormality of the septum pellucidum, Short nose, Anteverted nares, Short columel... ORPHA:171839
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Bulbous nose, Hypoplasia of the corpus callosum, Decreased testicular size, Ventr... OMIM:300354
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Microcephaly, Ventriculomegaly, Cerebral atrophy OMIM:617051
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
17P13.3 Microduplication Syndrome
Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of penis, Wide nose ORPHA:217385
Microcephaly 17, Primary, Autosomal Recessive
Bulbous nose, Ventriculomegaly, Failure to thrive, Simplified gyral pattern, Short stature, Micro... OMIM:617090
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:66628
Cornelia De Lange Syndrome 5
Prominent nasal bridge, Cryptorchidism, Anteverted nares, Ventriculomegaly, Microcephaly, Postnat... OMIM:300882
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Proportionate sh... ORPHA:759
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay OMIM:615234
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Recurrent upper respiratory tract infections, Hypergona... ORPHA:179494
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Short stature, Postnatal growth retardation, Abdominal obesity OMIM:618160
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Bronchiectasis, Recurrent upper resp... OMIM:210900
Lissencephaly 1
Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphology, Agyria, Secondary microc... OMIM:607432
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Combined Oxidative Phosphorylation Deficiency 39
Pachygyria, Increased CSF lactate, Ventriculomegaly, Simplified gyral pattern, Intrauterine growt... OMIM:618397
Temple Syndrome
Cryptorchidism, Hydrocephalus, Postnatal growth retardation, Obesity, Small for gestational age, ... ORPHA:254516
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Warburg Micro Syndrome 1
Cryptorchidism, Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy, Ex... OMIM:600118
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Growth delay, Intrauterine growth retardation, Abnormal latera... ORPHA:488635
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Short nose, Underdeveloped nasal alae, Hypoplasia of the corpus callosum, Ventric... OMIM:615803
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Ventriculomegaly, Thick cerebral cortex, Lissencephaly OMIM:618677
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Anosmia, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gona... OMIM:614841
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Rhinitis OMIM:618300
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Recurrent sinusitis, Rhinitis, Male infertility, Chroni... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Bronchiectasis, Absent outer dynein arms, Recurrent sinusiti... OMIM:615500
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Depressed nasal ridge, Arrhinencephaly, Holoprosencepha... ORPHA:96264
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy OMIM:618298
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Midline defec... ORPHA:1993
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Nasal polyposis, Recurrent sin... OMIM:608647
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation,... OMIM:617281
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Pachygyria, Agyria, Enlarged sylvian cistern ORPHA:1084
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Diencephalic Syndrome
Long penis, Hydrocephalus, Decreased body weight, Cachexia, Abnormality of the hypothalamus-pitui... ORPHA:1672
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Congenital Hydrocephalus
Bulbous nose, Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration,... ORPHA:2185
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology OMIM:225050
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly ORPHA:2732
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Male infertility, Recurrent... OMIM:618801
Bonnemann-Meinecke-Reich Syndrome
Ventriculomegaly, Cerebral calcification, Short stature, Microcephaly, Decreased response to grow... ORPHA:1261
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ring Chromosome 22 Syndrome
Wide nasal base, Azoospermia, Bulbous nose, Absent septum pellucidum, Pleural effusion, Growth de... ORPHA:1446
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Cerebral white... OMIM:618730
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Depressed na... ORPHA:420179
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Uterine neoplasm, Neop... OMIM:175200
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Bulbous nose, External genital hypoplasia, Decreased body weight, Postnatal growt... OMIM:612947
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Trisomy 5P
Ventriculomegaly, Short stature, Hypoplasia of penis, Obesity ORPHA:1742
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Hydrocephalus, Pulmonary hypoplasia, Micropenis, Anterior hyp... OMIM:241800
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Anosmia, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficien... OMIM:618841
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Filippi Syndrome
Cryptorchidism, Ambiguous genitalia, Underdeveloped nasal alae, Decreased body weight, Wide nasal... OMIM:272440
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusiti... OMIM:615518
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, Chronic rhinitis OMIM:618695
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Megalencephaly, Diffuse swelling of cerebra... OMIM:613925
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Ventriculomegaly, Small cerebral cortex, Cortical dysplasia, S... OMIM:608716
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasis, Recurrent pneumonia, ... OMIM:615067
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory infec... OMIM:617092
Lissencephaly, X-Linked, 2
Ambiguous genitalia, Pachygyria, Micropenis, Ventriculomegaly, Wide nasal bridge, Decreased testi... OMIM:300215
Orofaciodigital Syndrome Type 14
Bulbous nose, Hypoplasia of the corpus callosum, Bilateral cryptorchidism, Patent ductus arterios... ORPHA:434179
6Q25 Microdeletion Syndrome
Ventriculomegaly, External genital hypoplasia, Wide nasal bridge, Failure to thrive, Short statur... ORPHA:251056
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Prader-Willi Syndrome Due To Translocation
Short nose, Patent ductus arteriosus, External genital hypoplasia, Anterior pituitary hypoplasia,... ORPHA:177907
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Ventriculomegaly, Cerebral atrophy, Pneumonia, Agenesis of corpus callos... ORPHA:85179
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia cysts, Increased CSF lactate, Ventriculomegaly, Cerebral atrophy, Wide nasal bridge... OMIM:312170
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bulbous nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Decreased body weight, Wide na... OMIM:300958
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Hydrocephalus, Obesity OMIM:601794
Bardet-Biedl Syndrome
Cryptorchidism, Short stature, Hypoplasia of penis, Hypogonadism, Prominent nasal bridge, Hypopla... ORPHA:110
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia, Short stature OMIM:601076
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Growth delay, Anosmia, Patent ductus arteriosus, Short stature, Hypo... ORPHA:251066
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Mend Syndrome
Cryptorchidism, Short stature, Prominent nasal bridge, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Acromelic Frontonasal Dysostosis
Cryptorchidism, Choroid plexus cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Midline... OMIM:603671
Distal Monosomy 10Q
Cavum septum pellucidum, Short nose, Patent ductus arteriosus, Postnatal growth retardation, Wide... ORPHA:96148
Lipoid Proteinosis
Nasal polyposis, Recurrent respiratory infections, Cerebral calcification ORPHA:530
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Partial agenesis of the corpus callosum, Dilation of lateral ventricles, Obesity OMIM:617296
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Bulbous nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Short stature, Agenesis of cor... ORPHA:262767
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Short stature, Pr... OMIM:617862
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Baraitser-Winter Syndrome 1
Cryptorchidism, Pachygyria, Short nose, Micropenis, Ventriculomegaly, Patent ductus arteriosus, P... OMIM:243310
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Pleural effusion, Impotence, Testicular atrophy, Hypogonadotropic hypogo... OMIM:235200
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Agenesis of corpus callosum, Ventriculomegaly, Wide nasal bridge, Hypospadias, Hy... OMIM:175700
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly,... OMIM:218350
Pettigrew Syndrome
Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-... OMIM:304340
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Short nose, Short stature, Anteverted nares, Hydrocephalus ORPHA:2701
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ventriculomegaly, Simplified gyral pattern, Microcephaly, Prog... OMIM:613402
Mosaic Trisomy 1
Penile hypospadias, Wide nasal bridge, Polymicrogyria, Pulmonary hypoplasia, Pulmonary artery atr... ORPHA:1692
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Shawl... ORPHA:85277
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Chronic sinusitis OMIM:614017
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Anteverted nares, Depressed nasal bridge OMIM:617616
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Patent ductus arteriosus, Intrauterine growth retardation, Failure to thrive, Lis... OMIM:612938
Achondroplasia
Rhizomelia, Megalencephaly, Hydrocephalus, Neonatal short-limb short stature, Depressed nasal bridge OMIM:100800
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Short nose, Underdeveloped nasal alae, Ventriculomegaly, Scrotal hypoplasia, Grow... ORPHA:2083
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Cerebral atrophy, Patent ductus arteriosus, Cholelithiasis, Decreased body weight, ... OMIM:614886
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Wide nasal bridge, Failure to thrive, Hypospadias, Micro... OMIM:249630
Hydrolethalus
Cryptorchidism, Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Tracheal ... ORPHA:2189
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus ORPHA:261102
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Luscan-Lumish Syndrome
Irregular menstruation, Ventriculomegaly, Polycystic ovaries, Short stature, Long nose, Obesity OMIM:616831
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398079
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus, Short stature ORPHA:1532
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum OMIM:303350
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Ventriculomegaly, Hypoplasia of penis, Intrauterine growth r... ORPHA:2772
Gorlin Syndrome
Cryptorchidism, Wide nasal bridge, Cerebral calcification, Hypogonadotropic hypogonadism, Abnorma... ORPHA:377
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Ventriculomegaly, Cerebral atrophy, Growth delay, Patent ductus arteriosus, Postn... OMIM:179613
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Short stature ORPHA:2466
Craniofacial Dyssynostosis
Underdeveloped nasal alae, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Wide nasa... ORPHA:1516
Lissencephaly 3
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Microcep... OMIM:611603
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Ventriculomegaly, Patent ductus arteriosus, Sh... OMIM:609757
Peho-Like Syndrome
Pachygyria, Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Prog... OMIM:617507
Weaver Syndrome
Cryptorchidism, Hydrocele testis, Absent septum pellucidum, Dilation of lateral ventricles, Depre... OMIM:277590
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Developmental And Epileptic Encephalopathy 54
Microcephaly, Ventriculomegaly OMIM:617391
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Pierpont Syndrome
Cryptorchidism, Ventriculomegaly, Primary microcephaly, Abnormal cortical gyration, Small for ges... ORPHA:487825
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Fanconi Anemia, Complementation Group B
Hydrocephalus, Hypergonadotropic hypogonadism, Hypoplasia of the corpus callosum, Ventriculomegal... OMIM:300514
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callos... ORPHA:370968
Mental Retardation, Autosomal Dominant 20
Short nose, Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal cerebral... OMIM:613443
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum... OMIM:614066
Rhombencephalosynapsis
Abnormality of the uterus, Short nose, Hydrocephalus, Ventriculomegaly, Fusion of the left and ri... ORPHA:59315
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Hypoplasia of the u... OMIM:110100
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Depressed nasal ridge, Scrotal hypoplasia, Type II diab... ORPHA:96263
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Growth delay, Short stature, Rec... ORPHA:1495
H Syndrome
Recurrent pharyngitis, Azoospermia, Bronchiectasis, Amenorrhea, Delayed puberty, Chronic rhinitis... ORPHA:168569
Histidinuria-Renal Tubular Defect Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Wide nasal bridge ORPHA:2158
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Polymicrogyria OMIM:612691
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the corpus callosum, Ventriculomegaly, Progressive microcephaly, Microcephaly OMIM:616486
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Decreased testicular size, Ventriculomegaly, Alobar holoprosencephaly, Shawl scro... OMIM:615433
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ventriculomegaly, Intrauterine growth retardation, Cerebral cortical atrophy, Short stature, Hypo... ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... OMIM:615287
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Microcephaly, Ventriculomegaly, Cerebral calcification ORPHA:1980
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Short nose, Postnatal growth retardation, Depressed nasal bri... OMIM:614732
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the corpu... ORPHA:1926
Goldberg-Shprintzen Megacolon Syndrome
Pachygyria, Bifid scrotum, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal bridge... ORPHA:66629
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis, Depressed nasal bridge OMIM:268650
Developmental And Epileptic Encephalopathy 1
Microcephaly, Ventriculomegaly, Micropenis, Growth delay OMIM:308350
Myopathy, Congenital, Bailey-Bloch
Cryptorchidism, Ventriculomegaly, Microcephaly, Short stature OMIM:255995
Orofaciodigital Syndrome Xvii
Ventriculomegaly, Decreased body weight, Short stature, Micropenis, Prominent nose OMIM:617926
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Ambiguous genitalia, Hypodysplasia of the corpus callosum, Agenesis of corpus cal... OMIM:257300
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Urogenital sinus anomaly, Short nose, Agenesis of corpus callosum, Chordee, Absen... OMIM:618820
Desmosterolosis
Ambiguous genitalia, male, Anteverted nares, Short nose, Aplasia/Hypoplasia of the corpus callosu... OMIM:602398
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Ventriculomegaly, Abnormal cerebral white matter morphology, Trunca... OMIM:300957
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Agenesis of corpus callosum, Holoprosencephaly, Growth delay, Patent ductus arter... ORPHA:77298
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98754
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Primary microceph... OMIM:619180
Multiple Mitochondrial Dysfunctions Syndrome 5
Microcephaly, Ventriculomegaly, Pachygyria, Growth delay OMIM:617613
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Increased CSF lactate, Ventriculomegaly, Hypoplasia of the corpus ca... ORPHA:255182
Seckel Syndrome 9
Convex nasal ridge, Ambiguous genitalia, Ventriculomegaly, Microcephaly, Pulmonary artery hypopla... OMIM:616777
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Growth delay, Female pseudoher... ORPHA:91
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Ventriculomegaly, Wide nasal bridge, Caudate... ORPHA:137831
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98793
Warburg Micro Syndrome 3
Short nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Scrotal hypoplasia, Microcephaly... OMIM:614222
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventriculomegaly, Secondary microcephaly OMIM:613730
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Short nose, Abnormal cerebral white matter morphology, Abnormal corpus c... ORPHA:457279
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Pachygyria, Recurrent upper respiratory tract infections, Hypoplasia of the corpu... OMIM:612513
Ciliary Dyskinesia, Primary, 38
Infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Chronic sinusitis OMIM:618063
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Abnormal periventricular white matter morphology, Anteverted nares, Hypoplasia of... ORPHA:500159
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus, Failure to thrive ORPHA:26
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Agenesis of corpus callosum, Abnormality of the larynx, Vaginal atresia, Aplasia/... ORPHA:3301
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Secondary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Decreased... ORPHA:1643
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177904
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Convex nasal ridge, Hypoplasia of the corpus callosum, Ventriculomegaly, Decrease... OMIM:241410
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Nasal polyposis, Weight loss, Recurrent intrapulmonary hemorrhage, Si... ORPHA:183
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177901
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Carey-Fineman-Ziter Syndrome
Cryptorchidism, Ventriculomegaly, Growth delay, Failure to thrive, Broad nasal tip, Microcephaly,... OMIM:254940
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Ventriculomegaly OMIM:618383
Genitopalatocardiac Syndrome
Cryptorchidism, Wide nasal bridge, Gonadal dysgenesis, male, Male pseudohermaphroditism, Intraute... ORPHA:2075
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:398073
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Decreased serum insulin-like growth... ORPHA:314389
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ventriculomegaly, Cerebral calcification, Severe short stature, Decreased response to growth horm... OMIM:225755
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Emanuel Syndrome
Infertility, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Cerebr... ORPHA:96170
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Wide nasal bridge, Polycystic ovaries ORPHA:2229
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cryptorchidism,... OMIM:101800
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Bulbous nose, Abnormal cerebral white matter morphology, Wide nasal bridge, Anteverted nares, Hyd... OMIM:600991
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus, Depress... OMIM:602501
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Ventriculomegaly, Patent ductus arteriosus, Short stature, Microcephaly OMIM:615502
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Patent ductus arteriosus, Wide nasal bridge, Dilate... OMIM:220220
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Pachygyria, Abnormality of the larynx, Pancreatic fibrosis, Pulmonary hypopl... OMIM:263520
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Fanconi Anemia, Complementation Group R
Microcephaly, Growth delay, Hydrocephalus OMIM:617244
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Kohlschutter-Tonz Syndrome-Like
Overweight, Ventriculomegaly, Secondary microcephaly, Decreased body weight, Intrauterine growth ... OMIM:619229
Aicardi-Goutieres Syndrome 4
Convex nasal ridge, Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral ca... OMIM:610333
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dysplasia, Microcephaly, Precocious... ORPHA:457260
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles, Failure to thrive OMIM:300952
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Ventriculomegaly, Low hanging columella, Patent ductus arteriosus, Dysplastic corpus callosum, En... ORPHA:363444
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Fanconi Anemia
Cryptorchidism, Choanal atresia, Patent ductus arteriosus, Weight loss, Bicornuate uterus, Hydroc... ORPHA:84
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Beemer-Ertbruggen Syndrome
Cryptorchidism, Ambiguous genitalia, Bulbous nose, Wide nasal bridge, Communicating hydrocephalus ORPHA:1237
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Agenesis of corpus callosum, Ventriculomegaly, Scrotal hypop... ORPHA:261344
Desmosterolosis
Ambiguous genitalia, Anomalous pulmonary venous return, Pachygyria, Short nose, Agenesis of corpu... ORPHA:35107
Ovarian Fibrothecoma
Abnormality of the ovary, Pleural effusion, Abnormality of the endometrium, Metrorrhagia, Gonadal... ORPHA:314478
Mitochondrial Complex I Deficiency, Nuclear Type 31
Ventriculomegaly, Recurrent respiratory infections, Failure to thrive OMIM:618251
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Decreased circulating gonadotropin co... ORPHA:739
Bresek Syndrome
Cryptorchidism, Convex nasal ridge, Growth delay, Intrauterine growth retardation, Decreased test... ORPHA:85284
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Polymicrogyria, Abnormal nasal morphology, Depressed nasal bridge ORPHA:83473
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Catel-Manzke Syndrome
Ventriculomegaly, Short stature, Failure to thrive ORPHA:1388
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398069
Spastic Paraplegia 50, Autosomal Recessive
Bulbous nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal ridge, Microcephaly OMIM:612936
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... ORPHA:3085
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Shawl scrotum, Patent ductus arteri... OMIM:617053
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Agenesis of corpus callosum, Bulbous nose, Failure to thrive, Intrauterine gr... OMIM:612940
Distal Monosomy 10P
Cryptorchidism, Convex nasal ridge, Wide nasal bridge, Polycystic ovaries, Short stature, Hypopla... ORPHA:1580
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Underdeveloped nasal alae, Hypoplasia of the corpus callosum, Ven... ORPHA:2637
Endocrine-Cerebroosteodysplasia
Cryptorchidism, Ambiguous genitalia, Depressed nasal tip, Microphallus, Aplasia/Hypoplasia of the... OMIM:612651
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200