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Gene: Mcidas MGI:3648807

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Gene Summary

Name:
multiciliate differentiation and DNA synthesis associated cell cycle protein
Synonyms:
Gm6320,  Mcin,  multicilin,  Idas,  Mci

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Mcidasem2(IMPC)Tcp HOM   Early adult 1.50×10-11
decreased prepulse inhibition Mcidasem2(IMPC)Tcp HOM   Early adult 4.48×10-19
abnormal spleen morphology Mcidasem2(IMPC)Tcp HOM Early adult 0.00
decreased lean body mass Mcidasem2(IMPC)Tcp HOM Early adult 2.20×10-05
male infertility Mcidasem2(IMPC)Tcp HOM Early adult 0.00
increased circulating total protein level Mcidasem2(IMPC)Tcp HOM Early adult 1.04×10-06
increased vertical activity Mcidasem2(IMPC)Tcp HOM Early adult 3.58×10-05
decreased startle reflex Mcidasem2(IMPC)Tcp HOM Early adult 5.12×10-06
increased grip strength Mcidasem2(IMPC)Tcp HOM   Early adult 3.89×10-05
female infertility Mcidasem2(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Mcidasem2(IMPC)Tcp HOM Early adult 9.90×10-05
increased circulating alanine transaminase level Mcidasem2(IMPC)Tcp HOM Early adult 1.52×10-06
increased leukocyte cell number Mcidasem2(IMPC)Tcp HOM Early adult 6.71×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

4 Images

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Human diseases caused by Mcidas 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 Mcidas by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Abnormal sperm motility, Ve... ORPHA:244
Ciliary Dyskinesia, Primary, 42
Nasal polyposis OMIM:618695

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Lateral ventricle dilatation, Micropenis OMIM:300982
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypogonadotropic hypogonadism, Decreased body weight OMIM:619420
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... ORPHA:158048
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation, Premature ovarian insufficiency OMIM:615889
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Overweight, Cryptorchidism, Hydrocephalus, Hypogonadism, Micropenis, Dilated t... ORPHA:500055
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive, Hypospadias ORPHA:250994
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Obesity, Partial agenesis of the corpus ca... OMIM:617296
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig... ORPHA:29073
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... ORPHA:247585
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 17
Male infertility OMIM:617214
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Primary amenorrhea, Secondary amenorrhe... ORPHA:135
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Hypospadias OMIM:618330
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricl... ORPHA:544488
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism ORPHA:141333
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate, Latera... ORPHA:79243
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Hypospadias, Meningocele, ... ORPHA:397715
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Diencephalic Syndrome
Hydrocephalus, Long penis, Cachexia, Decreased body weight ORPHA:1672
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Failure to thrive in infancy ORPHA:284417
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Tremor, Cryptorchidism, Jaundice, Hypsarrhythmia, Hypoproteinemia OMIM:608093
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
X-Linked Intellectual Disability, Wilson Type
Hydrocele testis, Lateral ventricle dilatation ORPHA:85290
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive OMIM:619575
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum OMIM:619517
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Failure to thrive, Dilated third ventricle, Ventriculomegaly OMIM:615574
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation OMIM:618606
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Pr... ORPHA:649929
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ravine Syndrome
Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive ORPHA:99852
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Dandy-Walker m... ORPHA:3078
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Lateral ventricle dilatation, Male urethral meatus stenosis, Dilated third ventricle... ORPHA:464738
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Reduced proportion of CD4... ORPHA:90362
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Lateral ventricle dilatation, Hypospadias OMIM:617751
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Lateral ventricle dilatation, Small for gestational age, Micropenis OMIM:619847
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Kleeblattschaedel
Hydrocephalus OMIM:148800
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... OMIM:618291
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Leptospirosis
Hepatomegaly, Papilledema, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thro... ORPHA:509
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Glutaric Acidemia I
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypoplastic female external genitalia... OMIM:618577
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... ORPHA:52368
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Aicardi Syndrome
Spina bifida, Precocious puberty, Partial agenesis of the corpus callosum, Choroid plexus cyst, L... OMIM:304050
Slc35A2-Cdg
Precocious puberty, Lateral ventricle dilatation, Failure to thrive in infancy, Dandy-Walker malf... ORPHA:356961
Alexander Disease Type I
Hydrocephalus, Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Fried Syndrome
Hydrocephalus ORPHA:85335
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis... OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... OMIM:226300
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul... ORPHA:488627
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate ORPHA:565624
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t... OMIM:616034
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:609757
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebrospinal fluid morphology ORPHA:314404
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Temple Syndrome
Small for gestational age, Precocious puberty, Cryptorchidism, Hydrocephalus, Overweight, Obesity... OMIM:616222
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly ORPHA:858
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Lateral ventricle dilatation, Hypospadias, Failure to thrive in infancy OMIM:611209
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... ORPHA:1655
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Johanson-Blizzard Syndrome
Abnormality of the pancreas, Sensorineural hearing impairment, Failure to thrive, Hypoproteinemia... ORPHA:2315
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Postural tremor, Ataxia, Decreas... ORPHA:79239
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Female infertility, Hydrocephalus, Abnormal sperm motility, Ve... ORPHA:244
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Cog5-Cdg
Cryptorchidism, Lateral ventricle dilatation, Micropenis ORPHA:263487
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Enlarged ... OMIM:209950
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Ventriculomegaly OMIM:619229
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus ca... ORPHA:434179
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal thalamus morphology, Partia... ORPHA:300570
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci... ORPHA:206443
Bainbridge-Ropers Syndrome
Precocious puberty, Cryptorchidism, Lateral ventricle dilatation, Failure to thrive OMIM:615485
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Aicardi-Goutieres Syndrome 9
Weight loss, Lateral ventricle dilatation, Failure to thrive, Micropenis OMIM:619487
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Obesity, Micropenis ORPHA:171839
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor, Gait disturbance, Abnorm... ORPHA:99027
Distal Deletion 10Q
Lateral ventricle dilatation, Failure to thrive, Spina bifida occulta ORPHA:96148
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly, Abnormal fallopian tube morphology, Agenesis of corpu... ORPHA:2189
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst, Glandular hypospadias, Abnormal preputium morp... ORPHA:293725
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Holop... ORPHA:77298
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration OMIM:245200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Weaver Syndrome
Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Obesity, Overweight ORPHA:2822
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Infantile Sialic Acid Storage Disease
Hydrocephalus, Failure to thrive OMIM:269920
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Bresek Syndrome
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cockayne Syndrome Type 1
Hepatomegaly, Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Macrotia, Opti... ORPHA:90321
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ... ORPHA:177907
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Micropenis, Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Mosaic Trisomy 1
Lateral ventricle dilatation, Penile hypospadias, Agenesis of corpus callosum, Micropenis ORPHA:1692
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Lateral ventricle dilatation, Small pituitary gland, Micropenis, Ventriculomegaly OMIM:619479
Rhombencephalosynapsis
Hydrocephalus, Tracheoesophageal fistula, Abnormality of the uterus, Fusion of the left and right... ORPHA:59315
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Absent outer dynein arms, Nasal polyposis, Male infertility OMIM:244400
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive ORPHA:1895
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Nasal polyposis, Coiled sperm flagella OMIM:620197
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Tracheoesophageal fistula, Hypogonadism, Micropeni... OMIM:300514
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... OMIM:616881
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Obesity, Ventriculomegaly OMIM:615630
Ciliary Dyskinesia, Primary, 37
Female infertility, Hearing impairment OMIM:617577
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation OMIM:612938
Triploidy
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, ... ORPHA:3376
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:619833
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pineal cyst, Trun... OMIM:615873
Ciliary Dyskinesia, Primary, 19
Male infertility, Nasal polyposis, Absent inner and outer dynein arms OMIM:614935
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Tracheal stenosis, Agenesis of corpus callosum, Vaginal atresia ORPHA:3301
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Emanuel Syndrome
Failure to thrive, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Micropenis, Dandy-Wa... ORPHA:96170
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age OMIM:613330
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Agen... ORPHA:370959
B4Galt1-Cdg
Hydrocephalus, Small for gestational age, Dandy-Walker malformation ORPHA:79332
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:60040
Emanuel Syndrome
Failure to thrive, Cryptorchidism, Hydrocephalus, Micropenis, Dandy-Walker malformation, Ventricu... OMIM:609029
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Agenesis of corpus callosum, V... ORPHA:261344
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age OMIM:619869
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar... ORPHA:91350
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Colpocephaly, Stillbirth,... OMIM:210710
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive OMIM:620157
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hypospadias, Decreased response to growth hormone stimulation test, Dandy-Walker m... OMIM:220210
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... ORPHA:206448
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, Gonadal dysgenesis, male ORPHA:2075
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Lateral ventricle dilatation, Micropenis OMIM:263520
Nephronophthisis 18
Hydrocephalus OMIM:615862
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Failure to thrive OMIM:614098
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Shawl s... OMIM:617053
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:2169
Hemangioblastoma
Hydrocephalus ORPHA:252054
Arthrogryposis, Distal, Type 2A
Small for gestational age, Abnormal auditory evoked potentials, Cryptorchidism, Failure to thrive... OMIM:193700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Large for gestational age, Micropenis OMIM:300868
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Ventriculomegaly OMIM:614969
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Hydrocephalus, Ambiguous g... OMIM:257300
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:614576
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... ORPHA:845
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:609053
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus... ORPHA:899
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Cockayne Syndrome A
Hepatomegaly, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Cry... OMIM:216400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus, Tracheoesophageal fistula OMIM:314390
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Portal hypertens... OMIM:609136
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Hydrocephalus, Decreased body weight OMIM:614886
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Eleva... ORPHA:90796
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the ovary, Dandy-Wa... ORPHA:722
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Hydrocephalus, Stillbirth, Tracheal atresia OMIM:617667
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Tracheoesophageal fistula ORPHA:1834
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Halperin-Birk Syndrome
Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopro... OMIM:618651
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Hydrocephalus, Uterine leiomyoma, Irregular menstruation OMIM:616482
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Gracile Bone Dysplasia
Hydrocephalus, Failure to thrive, Micropenis OMIM:602361
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Abno... ORPHA:3412
Crouzon Syndrome
Hydrocephalus ORPHA:207
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Dystonia, Ataxia, Abnormal auditory evoked potentials, Optic n... ORPHA:909
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Micropenis, A... OMIM:264480
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, female, Partial agenesis of the corpus callosum, Ambiguous ge... OMIM:602398
Fg Syndrome Type 1
Hypospadias, Cryptorchidism, Hydrocephalus, Small pituitary gland, Slender build, Ventriculomegaly ORPHA:93932
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Spina bifida occulta ORPHA:2437
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atroph... ORPHA:79330
Arachnoiditis
Hydrocephalus ORPHA:137817
Alkuraya-Kucinskas Syndrome
Small scrotum, Hydrocephalus, Micropenis, Dandy-Walker malformation, Ventriculomegaly OMIM:617822
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Hydrocephalus, Hydrocele testis, Dandy-Wa... ORPHA:314588
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microphallus, Holoprosen... OMIM:612651
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Dysplastic corpus callosum, Uterus didelphys, Colpocep... OMIM:618820
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum OMIM:612940
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Elevated... ORPHA:401973
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly ORPHA:7
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Hepatosplenomegaly, ... OMIM:268800
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Hydrocephalus, Irregular menstruation, Hypogonadism, D... OMIM:101800
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Cockayne Syndrome B
Hepatomegaly, Small for gestational age, Abnormal pinna morphology, Abnormal auditory evoked pote... OMIM:133540
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus, Micropenis OMIM:619951
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Colpocephaly, Ventriculomegaly ORPHA:261250
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypospadias ORPHA:2409
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... ORPHA:53035
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Kabuki Syndrome 1
Premature thelarche, Cryptorchidism, Hydrocephalus, Lateral ventricle dilatation, Anoperineal fis... OMIM:147920
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Abnormal external genitalia, Cryptorchidism, Hydrocephalus, Obesity, Lateral ventric... OMIM:607872
Desmosterolosis
Hydrocephalus, Ambiguous genitalia, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Muenke Syndrome
Hydrocephalus ORPHA:53271
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Hypoplastic male external genital... OMIM:608091
Whipple Disease
Cachexia, Hydrocephalus, Erectile dysfunction ORPHA:3452
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... OMIM:619895
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Hydrocephalus, Vaginal atresia, Fused labia minora OMIM:207410
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Failure to thrive OMIM:259700
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Polycystic ovaries ORPHA:2969
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Hydrocephalus, Prominent scrotal raphe ORPHA:1555
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus, Micropenis, Failure to thrive, Slender build, Secondary ... ORPHA:1600
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Inability to walk, Macro... OMIM:617864
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Lateral ventricle dilatation OMIM:300896
Rabin-Pappas Syndrome
Hydrocephalus, Failure to thrive in infancy, Obesity OMIM:620155
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Ventriculomegaly OMIM:613603
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hydrocephalus, Hypoplastic labia majora, Prominent scrotal raphe, Age... OMIM:123790
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:395
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Progressi... ORPHA:500150
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Clitoral hypoplasia, Holoprosencephaly, Labial hypopl... OMIM:147791
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size, Amenorrhea ORPHA:168569
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum ORPHA:250989
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Ven... ORPHA:1855
Trisomy 17P
Hydrocephalus, Hypoplasia of penis ORPHA:261290
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Hydrocephalus, Tracheo... OMIM:227646
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Hydrocephalus, Hydranencephaly, Spina bifida ORPHA:2839
Tetrasomy 5P
Hydrocephalus, Failure to thrive ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Micropenis, Dan... OMIM:615287
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Trisomy 10P
Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked... ORPHA:171929
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Oeis Complex
Bifid uterus, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, female, Epispadias, Vesicovagin... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Hypoplastic male ex... OMIM:236670
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Fanconi Anemia
Hypospadias, Spina bifida, Abnormal preputium morphology, Cryptorchidism, Hydrocephalus, Tracheoe... ORPHA:84
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Failure to thrive ORPHA:974
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Cryptorchidism, Colpocephaly, Failure to thrive, Agenesis... OMIM:614866
Meningioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Reduced circulating prolactin concentrat... ORPHA:2495
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum, Rectovaginal fistula, Tracheoesophageal... ORPHA:1780
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Ovarian neoplasm ORPHA:87
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Meckel Syndrome, Type 6
Abnormal internal genitalia, Hydrocephalus, Anencephaly, Occipital encephalocele OMIM:612284
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Failure to thrive, Hypospadias, Cryptorchidism, Colpocephaly, Penile hypospadias OMIM:620083
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Decreased response to growth hormone stimulation test,... OMIM:617260
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Brain abscess, Failure to thrive, Extrahepatic portal hypertension, Low... ORPHA:2929
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... OMIM:614643
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220493
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly... ORPHA:2166
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Lateral ventricle d... ORPHA:261537
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Hearing impairment OMIM:620114
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Obesity, Aplasia/Hypoplasia of the fallopian tube, Ve... ORPHA:96121
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus, Agenesis of corpus callosum, Ventric... ORPHA:457284
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, ... OMIM:619534
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia, Posteriorly rotated ears, Low-set ears OMIM:618598
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida OMIM:613776
Joubert Syndrome
Encephalocele, Hydrocephalus ORPHA:475
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity, Fai... ORPHA:2322
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus OMIM:620351
Monosomy 9Q22.3
Hydrocephalus, Ovarian fibroma, Ventriculomegaly, Large for gestational age ORPHA:77301
Alexander Disease
Aqueductal stenosis, Precocious puberty, Hydrocephalus, Failure to thrive, Agenesis of corpus cal... ORPHA:58
Choreoacanthocytosis
Lateral ventricle dilatation, Weight loss ORPHA:2388
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Neurooculorenal Syndrome
Ectopic posterior pituitary, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis... OMIM:620305
Pierson Syndrome
Hypoproteinemia OMIM:609049
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... OMIM:227650
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Coccidioidomycosis
Eosinophilia, Abnormality of the male genitalia, Hydrocephalus, CSF pleocytosis, CSF lymphocytic ... ORPHA:228123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly OMIM:253800
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Apert Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Vaginal atresia, Ventriculomegaly OMIM:101200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Fail... OMIM:619512
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Micropenis, Ventriculomegaly OMIM:616546
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Failure to thrive in infancy, Cryptorchidism, Hydrocephalus, ... ORPHA:2162
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response, Hearing impairment OMIM:620327
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Lateral ventricle d... ORPHA:261552
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Tracheal stenosis, Micropenis ORPHA:163979
Pentalogy Of Cantrell
Encephalocele, Anencephaly, Hydrocephalus, Hypospadias ORPHA:1335
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocephalus, Epispadias, Cystocele, ... ORPHA:322
Cardiofaciocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive in infancy ORPHA:1340
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Fanconi Anemia, Complementation Group L
Hydrocephalus, Tracheoesophageal fistula, Aplasia of the uterus, Micropenis OMIM:614083
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia ORPHA:438216
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Cachexia ORPHA:220295
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Failure to thrive, Ventriculomegaly ORPHA:2462
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis OMIM:608800
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, External genital hypoplasia, Cryptorchidism, H... OMIM:249000
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Hypospadias, Penoscrotal hypospadias, Septate vagina, Precocious pu... OMIM:270400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Otopalatodigital Syndrome Type 2
Encephalocele, Hypospadias, Hydrocephalus, Myelomeningocele, Failure to thrive ORPHA:90652
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hydrocephalus, Anencephaly, Holoprosencephaly, Neonatal death OMIM:269860
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Dandy-Walker malformation, Ven... OMIM:605627
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula ORPHA:268249
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus ORPHA:1666
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Panhypopituitar... OMIM:610828
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Khan-Khan-Katsanis Syndrome
Colpocephaly, Failure to thrive, Ventriculomegaly OMIM:618460
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Decreased body weight, Failure to thrive... OMIM:602535
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Mend Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation OMIM:300960
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, External ear m... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, External ear m... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, External ear m... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, External ear m... ORPHA:881
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Hypospadias OMIM:305450
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Low-set ears, Dystonia, Macrotia, Hearing impai... ORPHA:79255
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:228308
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Meckel Syndrome
Encephalocele, True hermaphroditism, Cryptorchidism, Hydrocephalus, Male pseudohermaphroditism, A... ORPHA:564
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... ORPHA:363958
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Hypospadias, Epispadias, Hydrocephalus, Male pseudo... ORPHA:2556
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ovarian cyst, Ventriculomegaly OMIM:618188
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Failure to thrive OMIM:115150
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular size OMIM:619321
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Colpocephaly, Chordee, Hypospadias ORPHA:477993
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Cryptorchidism, Hydrocephalu... ORPHA:2658
Dubowitz Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormality of female external genitalia, Spina bifid... ORPHA:235
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Failure to thrive OMIM:277400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Decreased response to growth hormone stimulation test OMIM:616007
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia OMIM:617301
Aymé-Gripp Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:1272
Histiocytoid Cardiomyopathy
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Polycystic ovaries ORPHA:137675
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Severe hydrocephalus, Tracheal stenosis, Abno... OMIM:236680
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, F... OMIM:617527
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive, Hypospadias OMIM:102500
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Hydrocephalus, Failure to thrive, Agenesis of... ORPHA:2461
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus ORPHA:1454
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Obesity, Colpocephaly, Failure to thrive ORPHA:75857
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Hurler Syndrome
Hydrocephalus OMIM:607014
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Achondroplasia
Hydrocephalus OMIM:100800
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Trisomy 8P
Cryptorchidism, Hydrocephalus, Micropenis, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Mohr Syndrome
Hydrocephalus OMIM:252100
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Stillbirth, Small for gestational age OMIM:208150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Hydrocephalus, Partial agenesis of the corpus callosum, Spina bifida occulta OMIM:300373
Medulloblastoma
Hydrocephalus ORPHA:616
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Ovarian cyst, Hypothalamic hamartoma, Agenesis of corpus callosum OMIM:311200
Cystinosis, Nephropathic
Hyponatremia, Male infertility, Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysph... OMIM:219800
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Wolf-Hirschhorn Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Hydrocephalus, Aplasi... OMIM:194190
Fraser Syndrome 1
Encephalocele, Hypospadias, Cryptorchidism, Hydrocephalus, Myelomeningocele, Bicornuate uterus, M... OMIM:219000
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... OMIM:107480
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Hydrocephalus, Cachexia, Ventriculomegaly ORPHA:2072
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Decreased thalamic volume ORPHA:168577
Fontaine Progeroid Syndrome
Small scrotum, Small for gestational age, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora... OMIM:612289
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Failure to thrive ORPHA:1106
22Q11.2 Deletion Syndrome
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Obesity, Occipital myelome... ORPHA:567
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly, Large for gestational age OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Micropenis, Slender build, Ventriculomegaly ORPHA:457359
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Hurler Syndrome
Hydrocephalus ORPHA:93473
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Failure to thrive ORPHA:79282
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Overweight, Hydrocephalus, Obesity, Decreased body weight, Micropenis... OMIM:619475
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Bicornuate uterus OMIM:154400
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Hajdu-Cheney Syndrome
Hydrocephalus, Failure to thrive, Hypospadias ORPHA:955
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora, Severe failure to thrive, M... ORPHA:3472
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Failure to thrive OMIM:114290
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Hydrocephalus, Panhypopituitarism, Neural ... ORPHA:220386
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism ORPHA:3042
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus ORPHA:261337
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Cryptorchidism, Colpocephaly, Labial hypoplasia, Micropenis... OMIM:606170
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:221120
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Failure to thrive, Myelomeningocele OMIM:306955
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hypospadias, Cryptorchidism, Obesity, Hydrocele testis, Fa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hypospadias, Cryptorchidism, Obesity, Hydrocele testis, Fa... ORPHA:353277
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, H... OMIM:261540
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Oligozoospermia, Infertility, Micropenis, Dandy-Walker malformation ORPHA:3310
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Broad-based gait, Decreased serum iron, Cryptorc... ORPHA:438213
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Clitoral hypoplasia, Anteri... ORPHA:709
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Small for gestational age, Cryptorchidism, Hydrocephalus, Long penis, Failure to thr... OMIM:264090
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Mild fet... OMIM:619841
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Osteogenesis Imperfecta
Hydrocephalus, Small for gestational age, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Costello Syndrome
Hydrocephalus, Failure to thrive, Ventriculomegaly OMIM:218040
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Neurofibromatosis Type 1
Precocious puberty, Cryptorchidism, Hydrocephalus ORPHA:636
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Clitoral hypoplasia, Labial hypoplasia, Spina bi... OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypospadias... ORPHA:3455
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Hydrocephalus, Long penis, Frontal encephaloc... OMIM:268300
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thri... OMIM:219700
Split Cord Malformation
Hypospadias, Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Mening... ORPHA:573278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Otopalatodigital Syndrome, Type Ii
Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth OMIM:304120
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Cryptorchidism, Hydrocele testis, Chordee... OMIM:619522
Baller-Gerold Syndrome
Hydrocephalus, Perineal fistula, Rectovaginal fistula, Spina bifida occulta, Agenesis of corpus c... OMIM:218600
Coffin-Siris Syndrome 12
Cryptorchidism, Failure to thrive, Hypospadias, Noncommunicating hydrocephalus OMIM:619325
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... OMIM:163950
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Tuberous Sclerosis Complex
Pituitary adenoma, Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypospadias OMIM:312870
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Ciliary Dyskinesia, Primary, 42
Nasal polyposis OMIM:618695

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term spermatogenesis defect Mcidasem2(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological process term rhinitis Mcidasem2(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Mcidasem2(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological entity term ciliary motility defect Mcidasem2(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Mcidasem2(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Mcidasem2(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Mcidasem2(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological process term atrophy Mcidasem2(IMPC)Tcp HOM Early adult
Lung - MPATH pathological process term inflammation Mcidasem2(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mcidas.

No publications found that use IMPC mice or data for Mcidas.

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MGI Allele Allele Type Produced
Mcidasem2(IMPC)Tcp Exon Deletion Mice, Tissue

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