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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
male infertility Mcidasem2(IMPC)Tcp HOM Early adult 0.00
increased circulating alanine transaminase level Mcidasem2(IMPC)Tcp HOM Early adult 1.88×10-07
abnormal spleen morphology Mcidasem2(IMPC)Tcp HOM Early adult 0.00
decreased prepulse inhibition Mcidasem2(IMPC)Tcp HOM   Early adult 5.47×10-19
decreased startle reflex Mcidasem2(IMPC)Tcp HOM Early adult 1.64×10-05
increased vertical activity Mcidasem2(IMPC)Tcp HOM Early adult 3.58×10-05
increased circulating total protein level Mcidasem2(IMPC)Tcp HOM Early adult 9.99×10-06
abnormal auditory brainstem response Mcidasem2(IMPC)Tcp HOM   Early adult 7.96×10-12
increased grip strength Mcidasem2(IMPC)Tcp HOM   Early adult 3.83×10-05
increased leukocyte cell number Mcidasem2(IMPC)Tcp HOM Early adult 6.71×10-05
decreased lean body mass Mcidasem2(IMPC)Tcp HOM Early adult 2.21×10-05
female infertility Mcidasem2(IMPC)Tcp HOM Early adult 0.00

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 Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Histopathology

Images

20 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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, Hydrocephalus, Nasal polyposis, Abnormal sperm motility, Female infertility, 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
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Decreased CSF asialotransferrin to transferrin ratio, Lateral ventricle ... OMIM:620315
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Martsolf Syndrome 2
Decreased body weight, Hypogonadotropic hypogonadism, Lateral ventricle dilatation OMIM:619420
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Bilateral cryptorchidism, Lateral ventricle dilatation OMIM:300982
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
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
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency, Lateral ventricle dilatation OMIM:615889
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Failure to thrive, Overweight, Hypogonadism, Ventriculome... ORPHA:500055
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Lateral ventricle dilatation OMIM:616816
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia OMIM:209970
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dila... OMIM:617296
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Non-obstructive a... OMIM:619528
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Agenesis of corpus callosum, Cryptorchidism, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 17
Male infertility OMIM:617214
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Spermatogenic Failure 73
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Elevated cir... ORPHA:29073
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
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
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Cach Syndrome
Gonadal dysgenesis, Premature ovarian insufficiency, T2 hypointense thalamus, Secondary amenorrhe... ORPHA:135
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Obesity, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Lateral ventricle dilatation OMIM:618330
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:620356
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive, Cryptorchidism, Hypospadias ORPHA:250994
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Agenesis of corpus ... ORPHA:79243
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Large for gestational age, Dilated third ventricle, Bilateral cryptor... ORPHA:544488
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Hypospadias, Meningocele, Dandy-Walker malformation, Dilated third ventr... ORPHA:397715
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
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
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight, Long penis ORPHA:1672
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Neonatal death, Lateral ventricle dila... OMIM:610015
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Lateral ventricle dilatation ORPHA:284417
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... OMIM:618736
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:620548
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, C... OMIM:617519
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Hypergonadotropic hypogonadism, Obesity, Azoospermia ORPHA:2183
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Lateral ventricle dilatation OMIM:619278
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
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
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Failure to thrive, Lateral ventricle dilatation, Overweight OMIM:619575
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go... ORPHA:91348
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
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Pontocerebellar Hypoplasia, Type 13
Dandy-Walker malformation, Failure to thrive, Lateral ventricle dilatation OMIM:618606
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Ventriculomegaly, Failure to thrive, Dilated third ventricle OMIM:615574
Ravine Syndrome
Anorexia, Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Ataxia ORPHA:99852
Craniosynostosis 6
Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d... OMIM:616602
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Dandy-Walker malformation, Small for gestational age, Lateral ventricle... ORPHA:3078
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Dilated third ventricle, Agenesis of corpus callosum, Lateral ventricle dilatation, ... ORPHA:464738
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Dilated third ventricle, Decreased body weight, Colpocephaly, Lat... OMIM:620371
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Elevated CSF D-2-hydroxyglutaric acid concentration, Lateral ventricle dilata... OMIM:600721
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hypospadias, Lateral ventricle dilatation OMIM:617751
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Hydrocele testis ORPHA:85290
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C... ORPHA:90362
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Obesity, Cryptorchidism, Hypogonadism OMIM:601794
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation, Lateral ven... OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Kleeblattschaedel
Hydrocephalus OMIM:148800
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... OMIM:241600
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Hypsarrhythmia, Hypoproteinemia, Tremor, Aggressive behavior OMIM:608093
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Ataxia, Splenomegaly, Neutr... ORPHA:167
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Sensorineural hearing impairment, Elevated circulating creatine ... OMIM:619518
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Glutaric Acidemia I
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Leptospirosis
Anorexia, Hepatomegaly, Jaundice, Lymphadenopathy, Papilledema, Thrombocytopenia, Hyperproteinemi... ORPHA:509
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis, Small for gestational age, Lateral ventricle dilatation OMIM:619847
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Elevated circulating creatin... OMIM:615895
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Slc35A2-Cdg
Precocious puberty, Dandy-Walker malformation, Failure to thrive in infancy, Lateral ventricle di... ORPHA:356961
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Aicardi Syndrome
Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventricle, Spina bifida, Precocious... OMIM:304050
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Alexander Disease Type I
Hydrocephalus, Cachexia, Abnormal thalamic MRI signal intensity, Failure to thrive ORPHA:363717
Fried Syndrome
Hydrocephalus ORPHA:85335
Ménétrier Disease
Anorexia, Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Failure to thrive in infancy, Lateral ventricle dil... ORPHA:488627
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Cryptorchidism ORPHA:261102
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele ORPHA:324416
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Hypoa... OMIM:226300
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomega... OMIM:618577
Temple Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Precocious puberty, Obesity... ORPHA:254516
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Failure to thrive, Colp... OMIM:616034
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebrospinal fluid morphology ORPHA:314404
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Failure to thrive in infancy ORPHA:858
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly ORPHA:99828
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum OMIM:304100
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Primary Ciliary Dyskinesia
Male infertility, Hydrocephalus, Nasal polyposis, Abnormal sperm motility, Female infertility, Ve... ORPHA:244
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Combined Oxidative Phosphorylation Defect Type 39
Increased CSF lactate, Cryptorchidism, Lateral ventricle dilatation ORPHA:565624
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Low-set ears, Splenomeg... OMIM:235255
Classic Galactosemia
Premature ovarian insufficiency, Jaundice, Hepatomegaly, Male infertility, Gait imbalance, Second... ORPHA:79239
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Cryptorchidism, Hypospadias, Lateral ventricle dilatation OMIM:611209
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... OMIM:618963
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation OMIM:618914
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase conce... ORPHA:26793
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Hydrocephalus, Oligozoospermia, Varicocele, Increased... ORPHA:8
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Failure to thrive, Ventricu... OMIM:609757
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Johanson-Blizzard Syndrome
Anemia, Sensorineural hearing impairment, Hypoproteinemia, Failure to thrive, Exocrine pancreatic... ORPHA:2315
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Temple Syndrome
Hydrocephalus, Precocious puberty, Decreased testicular size, Overweight, Obesity, Cryptorchidism... OMIM:616222
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macroorchidism OMIM:300886
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis OMIM:610333
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
Den Hoed-De Boer-Voisin Syndrome
Decreased body weight, Obesity, Lateral ventricle dilatation, Ventriculomegaly, Overweight OMIM:619229
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormal thalamus morphology, Partial agenesis of the corpus callo... ORPHA:300570
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Low-set ears, Hepatospl... ORPHA:1655
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Erectile dysfunction, Sensorineural hearing impairment, Impotence, Abnormal autonom... ORPHA:99027
Immunodeficiency 27A
Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, E... OMIM:209950
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure 15
Male infertility, Spermatogenesis maturation arrest, Non-obstructive azoospermia OMIM:616950
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Aicardi-Goutieres Syndrome 9
Failure to thrive, Micropenis, Weight loss, Lateral ventricle dilatation OMIM:619487
Cog5-Cdg
Cryptorchidism, Micropenis, Lateral ventricle dilatation ORPHA:263487
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Glandular hypospadias, Choroid plexus cyst, Abnormal preputium morphology, Lateral ventricle dila... ORPHA:293725
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Distal Deletion 10Q
Failure to thrive, Spina bifida occulta, Lateral ventricle dilatation ORPHA:96148
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Failure to thrive, Lateral ventricle dilatation OMIM:300952
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Spermatogenic Failure 14
Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula... OMIM:615842
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation ORPHA:572798
Bainbridge-Ropers Syndrome
Precocious puberty, Failure to thrive, Cryptorchidism, Lateral ventricle dilatation OMIM:615485
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... ORPHA:86816
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Orofaciodigital Syndrome Type 14
Epispadias, Dandy-Walker malformation, Dilated third ventricle, Bilateral cryptorchidism, Dilated... ORPHA:434179
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Cryptorchidism OMIM:218350
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Noonan Syndrome 14
Cryptorchidism, Lateral ventricle dilatation OMIM:619745
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... ORPHA:3240
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Obesity, Cryptorchidism, Micropenis ORPHA:171839
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:613153
Infantile Sialic Acid Storage Disease
Hydrocephalus, Failure to thrive OMIM:269920
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Hydrolethalus
Anencephaly, Abnormal fallopian tube morphology, Hydrocephalus, Tracheal atresia, Agenesis of cor... ORPHA:2189
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Abnormal cranial ... OMIM:601596
Weaver Syndrome
Ventriculomegaly, Cryptorchidism, Lateral ventricle dilatation, Hydrocele testis OMIM:277590
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Anterior pitu... ORPHA:177907
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration OMIM:245200
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Mosaic Trisomy 1
Agenesis of corpus callosum, Micropenis, Penile hypospadias, Lateral ventricle dilatation ORPHA:1692
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Pallister-Hall-Like Syndrome
Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma, Micropenis OMIM:241800
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Nasal polyposis, Coiled sperm flagella OMIM:620197
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Anemia, Difficulty walking, Tremor, Absent brainstem auditory respon... ORPHA:90321
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Spermatogenic Failure 13
Male infertility, Elevated circulating follicle stimulating hormone level, Abnormal prolactin lev... OMIM:615841
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle OMIM:220220
Rhombencephalosynapsis
Hydrocephalus, Fusion of the left and right thalami, Tracheoesophageal fistula, Abnormality of th... ORPHA:59315
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Ag... ORPHA:77298
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Small pituitary gland, Lateral ventricle dilatation, Ventriculomegaly, Micropenis OMIM:619479
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility, Nasal polyposis, Communicating hydrocephalus OMIM:244400
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Cryptorchidism OMIM:175700
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Stillbirth OMIM:276950
Optic Pathway Glioma
Hydrocephalus, Precocious puberty ORPHA:2086
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Fanconi Anemia, Complementation Group B
Hydrocephalus, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Hypogonadism, Ventricul... OMIM:300514
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive ORPHA:1895
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Prolonged n... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Prolonged n... ORPHA:529799
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural... ORPHA:101085
Bresek Syndrome
Hydrocephalus, Cryptorchidism, Neonatal death, Decreased testicular size ORPHA:85284
Thanatophoric Dysplasia Type 2
Hydrocephalus, Ventriculomegaly, Holoprosencephaly, Encephalocele ORPHA:93274
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Broad-based gai... ORPHA:206448
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Cryptorchidism ORPHA:2701
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Female infertility OMIM:617577
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Obesity OMIM:615630
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Gabriele-De Vries Syndrome
Cryptorchidism, Lateral ventricle dilatation OMIM:617557
Liver Disease, Severe Congenital
Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, He... OMIM:619991
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Failure to thrive, Small for gestational age, Lateral ventricle dilatation OMIM:619869
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Failure to thrive, Colpocephaly OMIM:619833
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility, Nasal polyposis OMIM:614935
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Infertility, Failure to thrive, Hypogonadism, Agenesis ... ORPHA:96170
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:616362
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Optic disc pallor OMIM:619260
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age OMIM:613330
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Decreased thalamic volume, Dilated fourth ventricle, Agen... ORPHA:370959
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, Obesity, Lateral ventri... OMIM:615873
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Small for gestational age ORPHA:79332
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul... OMIM:225790
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620156
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Cryptorchidism, Micropenis, Abnormal morphology of female inter... ORPHA:1926
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Dandy-Walker malformation, Decreased response to growth hormone stimulation te... OMIM:601427
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum OMIM:207950
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Failure to thrive ORPHA:60040
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Panh... ORPHA:91350
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Failure to thrive, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Triploidy
Hypospadias, Hypoplasia of penis, Hydrocephalus, Meningocele, Holoprosencephaly, Ambiguous genita... ORPHA:3376
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Failure to thrive OMIM:612938
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Vaginal atresia, Agenesis of corpus callosum, Cryptorchidism, Tracheal stenosis ORPHA:3301
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland OMIM:614195
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive OMIM:620157
Mirage Syndrome
Hypospadias, Hydrocephalus, Decreased body weight, Microphallus, Decreased testicular size, Hyper... OMIM:617053
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation, Decreased response to growth hormone stimulation test, ... OMIM:220210
Keppen-Lubinsky Syndrome
Failure to thrive, Lateral ventricle dilatation OMIM:614098
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Micropenis, Lateral ventricle dilatation OMIM:263520
Nephronophthisis 18
Hydrocephalus OMIM:615862
Emanuel Syndrome
Hydrocephalus, Dandy-Walker malformation, Failure to thrive, Ventriculomegaly, Cryptorchidism, Mi... OMIM:609029
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Failure to thrive ORPHA:2169
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... OMIM:216400
Craniopharyngioma
Enlarged pituitary gland, Hydrocephalus, Pituitary hypothyroidism, Abnormal hypothalamus morpholo... ORPHA:54595
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Cholelithiasi... ORPHA:909
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Hydrocephalus, Failure to thrive, Colpocephaly, Agenesis of corpus callosum, Lateral ... OMIM:210710
Hemangioblastoma
Hydrocephalus ORPHA:252054
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism OMIM:310400
Trisomy 1Q
Ambiguous genitalia, Hydrocephalus, Agenesis of corpus callosum, Small scrotum, Ventriculomegaly,... ORPHA:261344
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Micropenis, Lateral ventricle dilatation OMIM:300868
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Spinal dysraphism ORPHA:1908
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Ventriculomegaly, Failure to thrive OMIM:614576
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormality of the male genitalia, Decreased body weight OMIM:614886
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Decreased body weight, Colpocephaly, Agene... OMIM:609053
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Neonatal death, Tracheoesophageal fistula OMIM:314390
Fraser Syndrome 3
Stillbirth, Hypoplasia of penis, Hydrocephalus, Tracheal atresia, Small scrotum OMIM:617667
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Abnormal morphology of female internal genitalia, Tracheoesophageal fistula ORPHA:1834
Hypoplasminogenemia
Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malformation, Abnormality of the ... ORPHA:722
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Neonatal death, Uterine leiomyoma, Irregular menstruation OMIM:616482
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Oculocerebrocutaneous Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Cryptorchidism ORPHA:1647
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Failure to thrive, Colpocephaly, Agenesis of corpus callosum, Ventri... OMIM:618651
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation OMIM:611134
Gracile Bone Dysplasia
Hydrocephalus, Failure to thrive, Micropenis OMIM:602361
Meckel Syndrome, Type 3
Hydrocephalus, Dandy-Walker malformation, Occipital encephalocele OMIM:607361
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Crouzon Syndrome
Hydrocephalus ORPHA:207
Microcephaly 30, Primary, Autosomal Recessive
Ventriculomegaly, Tracheal stenosis OMIM:620183
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Arthrogryposis, Distal, Type 2A
Hearing impairment, Failure to thrive, Abnormal auditory evoked potentials, Small for gestational... OMIM:193700
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus ORPHA:1237
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, Tracheoesophageal fistula, Myelomeningocele, Spina bifida ORPHA:2437
Desmosterolosis
Ambiguous genitalia, male, Hydrocephalus, Failure to thrive, Ventriculomegaly, Partial agenesis o... OMIM:602398
Mosaic Variegated Aneuploidy Syndrome 1
Ambiguous genitalia, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Bifid scrotum, Agenes... OMIM:257300
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Hydrocephalus, Chordee, C... OMIM:309801
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Mogs-Cdg
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Absent brainstem auditory response... ORPHA:79330
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Hydrocephalus, Ventriculomegaly, Cryptorchidism, Micropenis OMIM:614969
Genitopalatocardiac Syndrome
Hypospadias, Hydrocephalus, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism ORPHA:2075
Arachnoiditis
Hydrocephalus ORPHA:137817
Walker-Warburg Syndrome
Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventr... ORPHA:899
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, Small scrotum, Ventriculomegaly, Micropenis OMIM:617822
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hypsarrhythmia, Hyperactivity, Exaggerated startle response, Impulsivity, Hypernatremi... OMIM:620423
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:238769
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum OMIM:612940
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Impotence, Exaggerated startle response, Hepatosplenomegal... OMIM:268800
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sin... OMIM:618820
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Cryptorchidism ORPHA:1812
3C Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly ORPHA:7
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis OMIM:304340
Fg Syndrome Type 1
Hypospadias, Small pituitary gland, Hydrocephalus, Slender build, Ventriculomegaly, Cryptorchidism ORPHA:93932
Cockayne Syndrome B
Optic atrophy, Severe failure to thrive, Hepatomegaly, Decreased nerve conduction velocity, Senso... OMIM:133540
Tay-Sachs Disease
Optic atrophy, Inability to walk, Increased serum beta-hexosaminidase, Tremor, Exaggerated startl... ORPHA:845
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Vacterl With Hydrocephalus
Aqueductal stenosis, Abnormal fallopian tube morphology, Hydrocephalus, Tracheoesophageal fistula... ORPHA:3412
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Hydrocephalus, ... OMIM:101800
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea, Hypergonadotropi... ORPHA:572333
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Lymphadenopathy, Decreased circula... ORPHA:85450
Multiple Sulfatase Deficiency
Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration OMIM:272200
Thanatophoric Dysplasia, Type I
Hydrocephalus, Neonatal death OMIM:187600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation OMIM:618367
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Perineal fistula, Rectovaginal fistula ORPHA:3016
Whipple Disease
Hydrocephalus, Cachexia, Erectile dysfunction ORPHA:3452
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Failure to thrive, Enlarged fo... OMIM:608091
Endocrine-Cerebroosteodysplasia
Ambiguous genitalia, Hypospadias, Hydrocephalus, Microphallus, Holoprosencephaly, Agenesis of cor... OMIM:612651
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation OMIM:181270
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Desmosterolosis
Ambiguous genitalia, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly ORPHA:35107
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysplastic corpus callosum OMIM:617281
Hec Syndrome
Vaginal hydrocele, Communicating hydrocephalus ORPHA:2119
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Bicornuate uterus, Holoprosencephaly, Agenesis of corpus callosum, ... OMIM:264480
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Cryptorchidism, Hypospadias OMIM:601499
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Distal Triplication 15Q
Large for gestational age, Hydrocephalus, Dandy-Walker malformation, Abnormal external genitalia,... ORPHA:314588
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Optic nerve hypoplasia, Exaggerated startle response, Failure to thrive, Macro... OMIM:617864
Muenke Syndrome
Hydrocephalus ORPHA:53271
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hypopituitarism, Hyperglycorrhachia ORPHA:90065
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Fused labia minora, Vaginal atresia, Hypoplastic labia majora OMIM:207410
Kabuki Syndrome 1
Anoperineal fistula, Hydrocephalus, Premature thelarche, Lateral ventricle dilatation, Cryptorchi... OMIM:147920
Griscelli Syndrome
Hydrocephalus, Encephalocele ORPHA:381
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum OMIM:612582
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morpholo... ORPHA:95699
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Ventriculomegaly, Choroid plexus cyst OMIM:617866
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:459061
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Cole-Carpenter Syndrome 1
Hydrocephalus, Communicating hydrocephalus OMIM:112240
Proteus-Like Syndrome
Hydrocephalus, Polycystic ovaries, Communicating hydrocephalus ORPHA:2969
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Encephalocele, Meningocele OMIM:614424
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Hydrocephalus, Abnormal external genitalia, Obesity, Agenesis of corpus callosum, La... OMIM:607872
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Cryptorchidism, Micropenis OMIM:619951
H Syndrome
Azoospermia, Hydrocephalus, Decreased testicular size, Hypogonadism, Amenorrhea, Micropenis ORPHA:168569
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Failure to thrive in infancy, Progressive ventriculomegaly, Lateral v... ORPHA:500150
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal female external genitalia morphology, Precocious puberty, Ventriculomegaly, Truncal obes... ORPHA:2637
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Failure to thrive OMIM:259700
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Vesicovaginal fistula OMIM:300896
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Rabin-Pappas Syndrome
Hydrocephalus, Failure to thrive in infancy, Obesity OMIM:620155
Mend Syndrome
Hyperactivity, Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9... ORPHA:401973
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Hydrocephalus, Bifid scrotum, Prominent scrotal raphe, Agenesis of corpus callosum, ... OMIM:123790
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Inability to walk, Optic disc pallor, Exaggerated startle response OMIM:609541
Lowry-Maclean Syndrome
Hydrocephalus, Hypospadias, Bilateral cryptorchidism ORPHA:2409
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Tenorio Syndrome
Hydrocephalus, Ventriculomegaly OMIM:616260
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Hydrocephalus, Decreased fertility in ma... ORPHA:84
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Cryptorchidism, Colpocephaly ORPHA:261250
Tetrasomy 5P
Hydrocephalus, Failure to thrive ORPHA:3309
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Failure to thrive ORPHA:395
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to growth hormone s... ORPHA:3464
Trisomy 17P
Hydrocephalus, Hypoplasia of penis ORPHA:261290
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Agenesis of corpus call... OMIM:227646
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Hypospadias, Hypoplasia of penis, Bifid scrotum, Tracheoeso... ORPHA:887
Pelvis-Shoulder Dysplasia
Hydrocephalus, Ambiguous genitalia, Spina bifida, Hydranencephaly ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Spondyloenchondrodysplasia
Ventriculomegaly, Decreased response to growth hormone stimulation test, Abnormal lateral ventric... ORPHA:1855
Chondrodysplasia Punctata 2, X-Linked Dominant
Ventriculomegaly, Dandy-Walker malformation, Failure to thrive, Tracheal stenosis OMIM:302960
Trisomy 10P
EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked pote... ORPHA:171929
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Hydrocephalus, Increased c... ORPHA:2495
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Agenesis of corpus callosum OMIM:613001
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Optic disc pallor, Exaggerated startle response ORPHA:320406
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Thakker-Donnai Syndrome
Tracheoesophageal fistula, Rectovaginal fistula, Agenesis of corpus callosum, Communicating hydro... ORPHA:1780
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220497
Adams-Oliver Syndrome
Hydrocephalus, Failure to thrive, Encephalocele ORPHA:974
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Monosomy 18Q
Hydrocephalus, Bilateral cryptorchidism, Secondary growth hormone deficiency, Failure to thrive, ... ORPHA:1600
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Hyperalaninemia, Low-set ears, Exaggerated startle response, G... OMIM:620451
Apert Syndrome
Hydrocephalus, Ventriculomegaly, Ovarian neoplasm, Agenesis of corpus callosum ORPHA:87
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Cryptorchidism, Bifid scrotum, Prominent scrotal raphe ORPHA:1555
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis o... OMIM:617260
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Inability to walk, Exaggerated startle response OMIM:620114
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Meckel Syndrome, Type 6
Hydrocephalus, Occipital encephalocele, Abnormal internal genitalia, Anencephaly OMIM:612284
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cryptorchidism, Encephalocele ORPHA:1865
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation, Hypoproteinemia, Low-set ea... ORPHA:2929
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Partial agenesis of th... OMIM:614643
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm ORPHA:65285
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypospadias, Tracheal stenosis, Bifid scrotum, Failure to thrive, Chordee, Agenesis of corpus cal... ORPHA:261537
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Joubert Syndrome With Ocular Defect
Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220493
Jacobsen Syndrome
Hypospadias, Hydrocephalus, Labial hypoplasia, Clitoral hypoplasia, Failure to thrive, Holoprosen... OMIM:147791
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hypospadias, Failure to thrive, Colpocephaly, Agenesis of corpus callosum, ... OMIM:614866
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly, Hydrocele testis OMIM:613603
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Failure to thrive, Cryptorchidism, Agenesis of corpus callosum ORPHA:250989
Choreoacanthocytosis
Weight loss, Lateral ventricle dilatation ORPHA:2388
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele ORPHA:2318
Spondylocostal Dysostosis 4, Autosomal Recessive
Hydrocephalus, Spina bifida occulta, Myelomeningocele OMIM:613686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele, Agenesis of corpus callosum OMIM:613150
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Neonatal death OMIM:620351
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasia, Failure to thrive, Neonatal de... OMIM:619534
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Hydrocephalus, Aplasia of the uterus, Agenesis of corpus callosum, Ventric... ORPHA:457284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external geni... OMIM:236670
Tetraamelia Syndrome 1
Hydrocephalus, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia OMIM:273395
Coccidioidomycosis
Abnormality of the female genitalia, Hydrocephalus, CSF lymphocytic pleiocytosis, CSF pleocytosis... ORPHA:228123
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Large for gestational age, Ovarian fibroma ORPHA:77301
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Hydrocephalus, Encephalocele OMIM:224400
Joubert Syndrome
Hydrocephalus, Encephalocele ORPHA:475
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Precocious puberty, Failure to thrive, Agenesis of corpus cal... ORPHA:58
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Hydrocephalus... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele, Agenesis of corpus callosum OMIM:253800
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hype... OMIM:241080
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Failure to thrive, Colpocephaly, Penile hypospadias, Cryptorchidism OMIM:620083
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Abnormal pinna morphology, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele, Ventriculomegaly, Micropenis OMIM:616546
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
7Q11.23 Microduplication Syndrome
Hypospadias, Hydrocephalus, Aplasia/hypoplasia of the uterus, Obesity, Ventriculomegaly, Cryptorc... ORPHA:96121
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Hearin... OMIM:227650
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypospadias, Tracheal stenosis, Bifid scrotum, Failure to thrive, Chordee, Agenesis of corpus cal... ORPHA:261552
Lateral Meningocele Syndrome
Hydrocephalus, Cryptorchidism, Meningocele OMIM:130720
Fanconi Anemia, Complementation Group L
Hydrocephalus, Aplasia of the uterus, Micropenis, Tracheoesophageal fistula OMIM:614083
Pentalogy Of Cantrell
Hydrocephalus, Anencephaly, Encephalocele, Hypospadias ORPHA:1335
Congenital Sialidosis Type 2
Hydrocephalus ORPHA:93400
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis ORPHA:93259
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd... OMIM:615287
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Hydrocephalus, Bifid scrotum, Spina bifida, M... ORPHA:322
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Ventriculomegaly, Stillbirth OMIM:259720
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Hydrocele testis, Spina bifida OMIM:613776
Gorlin Syndrome
Hydrocephalus, Ovarian fibroma, Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:377
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Dural Sinus Malformation
Hydrocephalus, Myelopathy ORPHA:97339
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Cachexia ORPHA:220295
Kabuki Syndrome
Hypospadias, Hypoplasia of penis, Hydrocephalus, Precocious puberty, Failure to thrive, Obesity, ... ORPHA:2322
Pierson Syndrome
Hypoproteinemia OMIM:609049
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Agenesis of corpus callosum ORPHA:268249
Laurin-Sandrow Syndrome
Hydrocephalus, Cryptorchidism ORPHA:2378
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitarism, Fusion ... OMIM:610828
Otopalatodigital Syndrome Type 2
Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Failure to thrive ORPHA:90652
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Ambiguous geni... ORPHA:2166
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Cryptorchidis... OMIM:619512
Neurooculorenal Syndrome
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Cryptorchidism... OMIM:620305
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Premature ovarian insufficiency, Recurrent otitis media, Se... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Premature ovarian insufficiency, Recurrent otitis media, Se... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Premature ovarian insufficiency, Recurrent otitis media, Se... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Premature ovarian insufficiency, Recurrent otitis media, Se... ORPHA:881
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Neonatal death, Holoprosencephaly, Ambiguous genitalia OMIM:269860
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external genitalia, Ven... OMIM:605627
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Anterior hypopituit... ORPHA:2162
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus ORPHA:25
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Dextrocardia
Hydrocephalus, Abnormal reproductive system morphology ORPHA:1666
Apert Syndrome
Hydrocephalus, Vaginal atresia, Agenesis of corpus callosum, Ventriculomegaly, Cryptorchidism OMIM:101200
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Mucopolysaccharidosis, Type Ii
Hydrocephalus OMIM:309900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Failure to thrive, Colpocephaly OMIM:618460
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Cardiofaciocutaneous Syndrome
Hydrocephalus, Failure to thrive in infancy, Cryptorchidism ORPHA:1340
Cousin Syndrome
Hydrocephalus, Ambiguous genitalia, male, Ambiguous genitalia, female, Hydranencephaly OMIM:260660
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Micropenis, Tracheal stenosis ORPHA:163979
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Hydrocephalus, Dandy-Walker malformation, Bifid scrotum, Bi... OMIM:270400
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Ovarian cyst, Communicating hydrocephalus OMIM:618188
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum ORPHA:228308
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Marshall-Smith Syndrome
Hydrocephalus, Decreased body weight, Bilateral cryptorchidism, Failure to thrive, Agenesis of co... OMIM:602535
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif... ORPHA:63259
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Dysphagia, Exaggerated startle response OMIM:617301
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Cryptorchidism, Failure to thrive, Communicating hydrocephalus ORPHA:2462
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Hypospadias OMIM:313850
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Failure to thrive OMIM:115150
Meckel Syndrome, Type 1
Occipital encephalocele, Ambiguous genitalia, male, External genital hypoplasia, Anencephaly, Hyd... OMIM:249000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Hearing impairment, Macrotia, Hepatosplenomegaly ORPHA:79255
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Chordee, Cryptorchidism, Colpocephaly, Hypospadias ORPHA:477993
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Failure to thrive, Posteriorly rotated... OMIM:617527
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Decreased response to growth hormone stimulation test OMIM:616007
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Hydrocephalus,... ORPHA:2556
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, External genital hypoplasia, Hypospadias, Hydrocephalus, Cryptorchidism, Hypogonadism... ORPHA:2658
Hydrolethalus Syndrome 1
Stillbirth, Anencephaly, Hypospadias, Abnormal vagina morphology, Dandy-Walker malformation, Bifi... OMIM:236680
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Testicular neo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Testicular neo... ORPHA:363958
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size, Abdominal obesity, Micropenis OMIM:619321
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Alobar holopr... OMIM:610829
Histiocytoid Cardiomyopathy
Hydrocephalus, Failure to thrive, Polycystic ovaries, Agenesis of corpus callosum ORPHA:137675
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Failure to thrive, Small for gestational age OMIM:277400
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Occipital encephalocele ORPHA:1454
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum ORPHA:314585
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Agenesis of corpus callosum ORPHA:157
6Q Terminal Deletion Syndrome
Hypospadias, Phimosis, Failure to thrive, Obesity, Colpocephaly ORPHA:75857
Opitz-Kaveggia Syndrome
Hydrocephalus, Cryptorchidism, Partial agenesis of the corpus callosum, Hypospadias OMIM:305450
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele ORPHA:268810
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Failure to thrive OMIM:300960
Marden-Walker Syndrome
Epispadias, Hypospadias, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Abnormal ... ORPHA:2461
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Cryptorchidism OMIM:182212
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Dubowitz Syndrome
Abnormal female external genitalia morphology, Hypospadias, Spina bifida occulta, Hydrocephalus, ... ORPHA:235
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Hurler Syndrome
Hydrocephalus OMIM:607014
Meckel Syndrome
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Male pseudohermaphroditism,... ORPHA:564
Raine Syndrome
Hydrocephalus, Neonatal death OMIM:259775
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Abdominal situs inversus OMIM:619607
Achondroplasia
Hydrocephalus OMIM:100800
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Hypospadias, Agenesis of corpus callosum, Tracheal stenosis OMIM:217980
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Mucopolysaccharidosis Type 1
Hydrocephalus ORPHA:579
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Aymé-Gripp Syndrome
Hydrocephalus, Ventriculomegaly, Cryptorchidism ORPHA:1272
Orofaciodigital Syndrome I
Hydrocephalus, Hypothalamic hamartoma, Myelomeningocele, Ovarian cyst, Agenesis of corpus callosum OMIM:311200
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Medulloblastoma
Hydrocephalus ORPHA:616
Orofaciodigital Syndrome Ii
Hydrocephalus OMIM:252100
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Tracheal stenosis ORPHA:1790
Cryptococcosis
Hydrocephalus, Prostatitis ORPHA:1546
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Failure to thrive, Partial agenesis of the corpus callosum, Spina bifida occulta OMIM:300373
Jung Syndrome
Tracheal stenosis ORPHA:2321
Congenital Syphilis
Hydrocephalus, CSF pleocytosis ORPHA:499009
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Cachexia, Azoospermia ORPHA:2072
Cystinosis, Nephropathic
Polydipsia, Male infertility, Hypophosphatemic rickets, Hepatomegaly, Hypokalemia, Reduced blood ... OMIM:219800
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypoglycorrhachia, Decreased thalamic volume, Communicating hydrocephalus ORPHA:168577
Hajdu-Cheney Syndrome
Hydrocephalus, Failure to thrive, Cryptorchidism, Hypospadias OMIM:102500
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Hurler Syndrome
Hydrocephalus ORPHA:93473
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Large for gestational age, Communicating hydrocephalus OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Large for gestational age, Communicating hydrocephalus, Slender build, Ventriculomegaly, Micropenis ORPHA:457359
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypospadias, Hydrocephalus, Bifid scrotum, Decreased body weight, Failure to thrive, Obesity, Ven... OMIM:619475
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Cryptorchidism, Micropenis ORPHA:264450
Pendred Syndrome
Tracheal stenosis ORPHA:705
Mucopolysaccharidosis Type 3
Hydrocephalus, Ventriculomegaly ORPHA:581
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrocephalus, Failure to thrive ORPHA:79282
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Cryptorchidism, Small for gestational age OMIM:208150
Wolf-Hirschhorn Syndrome
Hypospadias, Hydrocephalus, Aplasia of the uterus, Precocious puberty, Failure to thrive, Agenesi... OMIM:194190
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Hydrocephalus, Bifid scrotum, Tracheoesophageal fistula, Recto... OMIM:107480
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Fontaine Progeroid Syndrome
Hydrocephalus, Failure to thrive, Neonatal death, Small scrotum, Cryptorchidism, Micropenis, Smal... OMIM:612289
Hajdu-Cheney Syndrome
Hydrocephalus, Failure to thrive, Hypospadias ORPHA:955
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Bicornuate uterus OMIM:154400
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Encephalocele, Hydrocephalus, Bicornuate uterus, Myelomeningoc... OMIM:219000
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia ORPHA:538
Knobloch Syndrome
Hydrocephalus, Occipital encephalocele ORPHA:1571
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy OMIM:253200
22Q11.2 Deletion Syndrome
Hypospadias, Meningocele, Hydrocephalus, Spina bifida, Failure to thrive, Obesity, Abnormality of... ORPHA:567
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Ambiguous genitalia, Hypospadias, Hypoplasia of penis, Holoprosencephaly, V... ORPHA:818
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Microphthalmia With Limb Anomalies
Hydrocephalus, Failure to thrive, Cryptorchidism ORPHA:1106
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Hydrocephalus, Panhypo... ORPHA:220386
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus OMIM:616084
Campomelic Dysplasia
Hypospadias, Hydrocephalus, Spina bifida, Failure to thrive, Spinal dysraphism, Sex reversal OMIM:114290
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis ORPHA:3348
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Bilateral cryptorchidism, Hypogonadism ORPHA:3042
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Aqueductal stenosis, Failure to thrive, Myelomeningocele OMIM:306955
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Tetrasomy 9P
Hydrocephalus, Dandy-Walker malformation, Infertility, Oligozoospermia, Cryptorchidism, Micropenis ORPHA:3310
Granulomatosis With Polyangiitis
Nasal mucosa vasculitis, Weight loss, Tracheal stenosis OMIM:608710
Hurler-Scheie Syndrome
Tracheal stenosis OMIM:607015
Yunis-Varon Syndrome
Clitoral hypertrophy, Severe failure to thrive, Hypospadias, Hydrocephalus, Agenesis of corpus ca... ORPHA:3472
Cystic Fibrosis
Absent vas deferens, Male infertility, Decreased body mass index, Nasal polyposis, Failure to thrive ORPHA:586
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Cryptorchidism ORPHA:261337
Cartilage-Hair Hypoplasia
Failure to thrive, Spinal dysraphism, Tracheal stenosis ORPHA:175
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hypospadias, Failure to thrive, Obesity, Cryptorchidism, H... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hypospadias, Failure to thrive, Obesity, Cryptorchidism, H... ORPHA:353277
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Peters-Plus Syndrome
Hypospadias, Hydrocephalus, Decreased body weight, Clitoral hypoplasia, Hypoplasia of the vagina,... OMIM:261540
Osteogenesis Imperfecta
Hydrocephalus, Ventriculomegaly, Small for gestational age, Noncommunicating hydrocephalus ORPHA:666
Peters Plus Syndrome
Hypospadias, Spina bifida occulta, Anterior hypopituitarism, Hydrocephalus, Clitoral hypoplasia, ... ORPHA:709
Limb Body Wall Complex
Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida ORPHA:2369
Costello Syndrome
Hydrocephalus, Ventriculomegaly, Failure to thrive OMIM:218040
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Labial hypoplasia, Colpocephaly, Agenesis of corpus ... OMIM:606170
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Anterior pituitary hypoplasia, Communicating hydrocephalus, Chordee, Mild fetal vent... OMIM:619841
Pseudoaminopterin Syndrome
Hydrocephalus, Cryptorchidism ORPHA:221120
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Decreased body weight, Bilateral c... OMIM:616462
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Long penis, Hydrocephalus, Dandy-Walker malformation, Failure to thrive, Agenesis of... OMIM:264090
Full Nf2-Related Schwannomatosis
Hydrocephalus, Myelopathy ORPHA:637
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Biliary cirrhosis, Failure to thrive, He... OMIM:219700
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Failure to thr... ORPHA:3455
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wri... ORPHA:438213
Igg4-Related Thyroid Disease
Abnormal pituitary gland morphology, Tracheal stenosis ORPHA:64744
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis ORPHA:93352
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis ORPHA:79345
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus ORPHA:309282
Focal Dermal Hypoplasia
Spina bifida occulta, Hydrocephalus, Labial hypoplasia, Myelomeningocele, Clitoral hypoplasia, Ag... OMIM:305600
Fraser Syndrome
Hypospadias, Encephalocele, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, M... ORPHA:2052
Gaucher Disease
Hydrocephalus, Ventriculomegaly ORPHA:355
Baller-Gerold Syndrome
Spina bifida occulta, Rectovaginal fistula, Hydrocephalus, Perineal fistula, Agenesis of corpus c... OMIM:218600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Craniofacioskeletal Syndrome
Cryptorchidism, Hypospadias, Tracheal stenosis OMIM:300712
Larsen Syndrome
Cryptorchidism, Spina bifida occulta, Tracheal stenosis OMIM:150250
Roberts-Sc Phocomelia Syndrome
Stillbirth, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Hydrocephalus, ... OMIM:268300
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus ORPHA:667
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Chordee, Posteriorly rotated... OMIM:619522
Neurofibromatosis Type 1
Hydrocephalus, Cryptorchidism, Precocious puberty ORPHA:636
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hypospadias, Hydrocephalus, Spina bifida, Cryptorchidism OMIM:304120
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Coffin-Siris Syndrome 12
Failure to thrive, Cryptorchidism, Hypospadias, Noncommunicating hydrocephalus OMIM:619325
Tuberous Sclerosis Complex
Subependymal nodules, Pituitary adenoma, Noncommunicating hydrocephalus ORPHA:805
Frontometaphyseal Dysplasia 2
Cryptorchidism, Tracheal stenosis OMIM:617137
Mowat-Wilson Syndrome
Hypospadias, Tracheal stenosis, Bifid scrotum, Decreased body weight, Oligomenorrhea, Chordee, Ag... ORPHA:2152
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Geleophysic Dysplasia 1
Laryngotracheal stenosis, Tracheal stenosis OMIM:231050
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cryptorchidism, Hypospadias, Agenesis of corpus callosum OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus ORPHA:363700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Hydrocephalus, Occipital encephalocele, 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
Nasal cavity - MPATH pathological process term atrophy Mcidasem2(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Mcidasem2(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Mcidasem2(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Mcidasem2(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological entity term ciliary motility defect Mcidasem2(IMPC)Tcp HOM Early adult
Lung - MPATH pathological process term inflammation Mcidasem2(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Mcidasem2(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological process term rhinitis Mcidasem2(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect 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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