Gene Summary

Name:
androglobin
Synonyms:
9130014G24Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Adgbem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Adgbem1(IMPC)Mbp HET Early adult 0.00
increased freezing behavior Adgbem1(IMPC)Mbp HET Early adult 1.53×10-05
hydrocephaly Adgbem1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Adgbem1(IMPC)Mbp HOM   Early adult 6.66×10-05
abnormal kidney morphology Adgbem1(IMPC)Mbp HET Early adult 0.00
increased skeletal muscle mass Adgbem1(IMPC)Mbp HOM Early adult 0.00
hydrometra Adgbem1(IMPC)Mbp HET Early adult 0.00
abnormal brain morphology Adgbem1(IMPC)Mbp HOM Early adult 0.00
increased eosinophil cell number Adgbem1(IMPC)Mbp HET Early adult 1.89×10-06
abnormal uterus morphology Adgbem1(IMPC)Mbp HET Early adult 0.00

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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.

Histopathology

Images

328 Images

X-ray

XRay Images Whole Body Dorso Ventral

86 Images

X-ray

XRay Images Whole Body Lateral Orientation

28 Images

Human diseases caused by Adgb mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... ORPHA:468726
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Orbital craniosynostosis, Hydrocephalus ORPHA:1538
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Halothane Hepatitis
Eosinophilia OMIM:234350
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Anxiety OMIM:618092
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Kimura Disease
Eosinophilia ORPHA:482
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia OMIM:212050
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619528
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia ORPHA:1646
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pandas
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... ORPHA:66624
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Hydrocephalus OMIM:300884
Wells Syndrome
Eosinophilia ORPHA:901
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Muscular dystrophy, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:613154
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly ORPHA:353298
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Kleeblattschaedel
Craniosynostosis, Hydrocephalus OMIM:148800
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Ventriculomegaly, Hydrocephalus OMIM:614830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Cinca Syndrome
Anemia, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia, Membranous nephropathy, Nephrotic syndrome OMIM:618999
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Fried Syndrome
Hydrocephalus, Skeletal muscle atrophy ORPHA:85335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the testis size, Ovarian cyst, Membranous nephropathy, P... ORPHA:400
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Nephrotic syndrome, Leukocytosis, Splenomegaly, Anemia ORPHA:39041
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, Hypoplasia of the uterus,... OMIM:614837
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencephaly, Syntelencephaly, Hydroce... OMIM:609637
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Congenital muscular dystrophy, Hydrocephalus ORPHA:324416
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... OMIM:618433
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus OMIM:617281
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:250994
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Nephrotic syndrome, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:911
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Foot dorsiflexor weakness, Flexion contracture, Hand muscle weakness, Distal lower limb amyotroph... ORPHA:99947
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Leukopenia, Bone m... ORPHA:443811
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus ORPHA:141333
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia ORPHA:2070
Pettigrew Syndrome
Dandy-Walker malformation, Flexion contracture, Ventriculomegaly, Hydrocephalus OMIM:304340
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Frontal encephalocele ORPHA:261102
Masa Syndrome
Ventriculomegaly, Hydrocephalus OMIM:303350
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Ventriculomegal... ORPHA:272
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune... OMIM:102700
Metatropic Dysplasia
Abnormal enchondral ossification, Hydrocephalus, Camptodactyly of finger, Coarse metaphyseal trab... ORPHA:2635
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Masticatory Muscles, Hypertrophy Of
Skeletal muscle hypertrophy OMIM:154850
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Premature ovarian insufficiency, Bone marrow hypocellularity, Coombs-positive hemol... ORPHA:3261
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia ORPHA:449400
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Lymphatic Filariasis
Nephrotic syndrome, Hypereosinophilia, Hematuria, Proteinuria, Orchitis, Glomerulonephritis, Vagi... ORPHA:2035
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephropath... OMIM:194072
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Micropenis, Azoospermia, Blind vagina, Aplasia of th... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Abnormality of the diaphragm, Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:183802
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Hydrocephalus ORPHA:380
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Membranoproliferative glomerulonephritis, L... OMIM:615816
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Tubulointerstitial nephritis, Renal insufficiency, Lymphocytosis ORPHA:139402
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology OMIM:606072
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Increased CSF protein, Skeletal muscle atrophy ORPHA:101082
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia... OMIM:619151
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Ovotestis, Hypoplasia of the vagina, Micropenis, Azoospermia... OMIM:278850
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Hydrocephalus ORPHA:2185
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Aplasia of the uterus, Hepatosplenomegaly, Horseshoe kidney, Leukocytosis, Anemia, ... OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Left ventricular ... OMIM:613153
Netherton Syndrome
Hypereosinophilia OMIM:256500
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Nasu-Hakola Disease
Reduced bone mineral density, Bone cyst, Ventriculomegaly, Hydrocephalus ORPHA:2770
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Hydrocephalus ORPHA:2183
Scleroderma
Hypereosinophilia, Acute kidney injury, Anxiety, Chronic kidney disease, Depression ORPHA:801
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Ventriculomegaly, Camptodactyly of toe, Hydrocephalus, Abnormal muscle fiber mo... OMIM:175700
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Craniosynostosis, Arrhinencephaly ORPHA:1528
Late-Onset Isolated Acth Deficiency
Eosinophilia, Premature ovarian insufficiency, Normocytic anemia, Macrocytic anemia ORPHA:199299
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Ventriculomegaly, Macrogl... OMIM:613156
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Hematuria, Proteinuria, Tubulointerstitial nephritis, Renal insufficiency ORPHA:183
Angiostrongyliasis
Irritability, Hypereosinophilia ORPHA:74
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Hydrocephalus ORPHA:1516
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Premature Ovarian Failure 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:612310
Achondroplasia
Hydrocephalus OMIM:100800
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan,... ORPHA:370959
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Hemihyperplasia, Isolated
Myelomeningocele, Skeletal muscle hypertrophy OMIM:235000
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Skeletal muscle atrophy ORPHA:275543
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Epiphyseal stippling, Myelomeningocele, Macroglossia ORPHA:1914
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Flexion contracture, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus OMIM:225790
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Hydrolethalus Syndrome 2
Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Lumbar Syndrome
Hypoplastic labia majora, Micropenis, Cryptorchidism, Bladder exstrophy, Hypospadias, Bifid uteru... ORPHA:83628
Temple Syndrome
Flexion contracture, Hydrocephalus OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Anencephaly, Muscular dystrophy, Ventriculomegaly, Dandy-Walker malforma... OMIM:615287
Igg4-Related Kidney Disease
Urinary bladder inflammation, Eosinophilia, Enlarged kidney, Abnormal ureter morphology, Hematuri... ORPHA:449395
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Hematuria OMIM:158310
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus OMIM:300864
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture OMIM:611588
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Horseshoe kidney, Decreased proportion of CD4-positive help... ORPHA:508533
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Micropenis, Anxiety, Cryptorchidism, Azoosper... ORPHA:432
Alveolar Echinococcosis
Eosinophilia, Renal cyst, Cutaneous abscess, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Functioning Gonadotropic Adenoma
Infertility, Osteopenia, Decreased female libido, Amenorrhea, Osteoporosis, Oligospermia, Impoten... ORPHA:91348
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Ventriculomegaly, Hydrocephalus OMIM:618577
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Hydr... OMIM:112240
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613157
Muscle-Eye-Brain Disease
Holoprosencephaly, Myopathy, Meningocele, Hydrocephalus ORPHA:588
Coccidioidomycosis
Eosinophilia, Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the ... ORPHA:228123
Infantile Sialic Acid Storage Disease
Osteopenia, Hydrocephalus OMIM:269920
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Elbow flexion contracture, Knee flexion contracture OMIM:613776
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus OMIM:602501
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia ORPHA:2349
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Hemangioblastoma
Lower limb muscle weakness, Hydrocephalus, Upper limb muscle weakness ORPHA:252054
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Hydrocephalus OMIM:612940
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Aqueductal stenosis, Flexion contracture of thumb, Hydrocephalus OMIM:307000
Intellectual Developmental Disorder, Autosomal Dominant 35
Hydrocephalus, Ventriculomegaly, Facial hypotonia, Congenital muscular torticollis OMIM:616355
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220220
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Osteoporosis, Secondary amenorrhea, Male infe... ORPHA:79239
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:163961
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
46,Xy Sex Reversal 4
Hypoplastic labia majora, Hydronephrosis, Gonadal dysgenesis, Ureteropelvic junction obstruction,... OMIM:154230
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Richieri Costa-Da Silva Syndrome
Generalized bone demineralization, Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness,... ORPHA:3101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Hydrocephalus OMIM:615181
Krabbe Disease
Increased CSF protein, Hydrocephalus OMIM:245200
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Central Precocious Puberty
Hydrocephalus ORPHA:759
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Myopathy, Centronuclear, X-Linked
Facial palsy, Flexion contracture, Diaphragmatic eventration, Hydrocephalus OMIM:310400
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:2182
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Encephalocele, Hydrocephalus ORPHA:93274
Chiari Malformation Type Ii
Myelomeningocele, Limb muscle weakness, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Osteopetrosis, Hydrocephalus, Facial palsy, Fac... OMIM:259700
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Hydrocephalus ORPHA:171839
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Triploidy
Decreased skull ossification, Macroglossia, Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:3376
Aase-Smith Syndrome I
Dandy-Walker malformation, Flexion contracture, Hydrocephalus OMIM:147800
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Hypoplasia of the o... OMIM:615300
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Facial palsy, Hydrocephalus ORPHA:53
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus OMIM:241800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Micropenis, Ovarian cyst, Blind vagina, Amb... ORPHA:90793
Oxoglutaric Aciduria
Hydrocephalus, Skeletal muscle atrophy ORPHA:31
Mental Retardation, Buenos Aires Type
Hydrocephalus OMIM:249630
Igg4-Related Submandibular Gland Disease
Eosinophilia, Prostatitis, Renal insufficiency ORPHA:449432
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Oligomenorrhea OMIM:613877
Vacterl Association With Hydrocephalus
Radial club hand, Aqueductal stenosis, Hydrocephalus OMIM:276950
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Female external genitalia in individual with 46,XY karyotype, Cryptorchidi... ORPHA:168558
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Absent extraocular muscles OMIM:109120
Igg4-Related Pachymeningitis
Eosinophilia, Nephritis ORPHA:449427
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Female external genitalia in individual with 46,XY karyotype, Cryptorchidi... ORPHA:289548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Ventriculomegaly, Macroglossi... OMIM:613150
Oeis Complex
Rectovaginal fistula, Micropenis, Hydronephrosis, Cryptorchidism, Bladder exstrophy, Ambiguous ge... OMIM:258040
Thanatophoric Dysplasia
Ventriculomegaly, Hydrocephalus ORPHA:2655
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Emanuel Syndrome
Infertility, Multiple joint contractures, Ventriculomegaly, Congenital diaphragmatic hernia, Dand... ORPHA:96170
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Knee flexion contracture, Skeletal muscle atrophy OMIM:603387
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Crouzon Syndrome
Multiple suture craniosynostosis, Hydrocephalus ORPHA:207
Mend Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:300960
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Osteoporosis, Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2409
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Ventriculomegaly, Hydrocephalus OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 36
Ventriculomegaly, Facial hypotonia, Hydrocephalus OMIM:616362
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Hydrocephalus OMIM:616294
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Methylcobalamin Deficiency Type Cble
Lower limb hypertonia, Osteoporosis, Ventriculomegaly, Hydrocephalus ORPHA:2169
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Decreased skull ossification, Hydrocephalus OMIM:300863
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary amenorrhea... ORPHA:79083
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Spinal dysraphism, Hydrocephalus, Holoprosencephaly, Meningocele, Encephalocele ORPHA:1908
47,Xyy Syndrome
Azoospermia, Oligospermia, Male infertility, Hydrocephalus ORPHA:8
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Temple Syndrome
Hydrocephalus ORPHA:254516
Sarcoidosis
Eosinophilia, Nephrocalcinosis, Leukopenia, Nephrolithiasis, Increased T cell count, Hypercalciur... ORPHA:797
Coach Syndrome 2
Hydrocephalus OMIM:619111
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus ORPHA:377
Tenorio Syndrome
Hydrocephalus, Osteopenia, Ventriculomegaly, Macroglossia OMIM:616260
Ring Chromosome Y Syndrome
Azoospermia, Abnormal spermatogenesis, Male hypogonadism, Male infertility, Female infertility, S... ORPHA:261529
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal sperm motility, Male infertility, Hydrocephalus, Female infertility ORPHA:244
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Joubert Syndrome 14
Dandy-Walker malformation, Encephalocele, Hydrocephalus OMIM:614424
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Skeletal muscle hypertrophy, Amenorrhea OMIM:600705
Nephronophthisis 18
Hydrocephalus OMIM:615862
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Myelomeningocele, Spina bifida, Aplasia of the left hemidiap... ORPHA:2437
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Walker-Warburg Syndrome
Skeletal muscle atrophy, Muscular dystrophy, Ventriculomegaly, Dandy-Walker malformation, Hydroce... ORPHA:899
Arnold-Chiari Malformation Type Ii
Hand muscle atrophy, Myelomeningocele, Ventriculomegaly, Upper limb muscle weakness, Hydrocephalu... ORPHA:1136
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus ORPHA:1647
Muenke Syndrome
Coronal craniosynostosis, Hydrocephalus ORPHA:53271
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Precocious puberty in males, H... OMIM:202010
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture, Hydrocephalus OMIM:615249
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy OMIM:255700
Igg4-Related Ophthalmic Disease
Eosinophilia, Prostatitis, Orchitis ORPHA:449563
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count, Ventriculomegal... OMIM:259720
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus ORPHA:1926
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Hydrocephalus OMIM:614886
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Dandy-Walker malformation, Hydrocephalus, Macroglossia OMIM:612938
Trisomy 1Q
Camptodactyly of finger, Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus ORPHA:261344
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Dandy-Walker malformation, Sagittal craniosynostosis, Camptodactyly, Hydrocephalus ORPHA:459061
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Meckel Syndrome, Type 4
Anencephaly, Dandy-Walker malformation, Hydrocephalus, Meningocele, Encephalocele OMIM:611134
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus OMIM:609757
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Horseshoe kidney, Thrombocytopenia ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Hydronephrosis, Aplasia of the vagina, Absent external genitalia, Urethral... OMIM:271520
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Flexion contracture, Congenital muscular dystrophy, Skeletal muscle atrophy, Hydro... OMIM:253800
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus OMIM:220219
Cushing Disease
Suicidal ideation, Leukocytosis, Decreased eosinophil count, Increased urinary cortisol level, Pa... ORPHA:96253
Ritscher-Schinzel Syndrome 1
Dandy-Walker malformation, Hydrocephalus OMIM:220210
Alkuraya-Kucinskas Syndrome
Camptodactyly, Ventriculomegaly, Arthrogryposis multiplex congenita, Hydrocephalus OMIM:617822
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Increased bone mineral density ORPHA:1237
Meckel Syndrome, Type 3
Occipital encephalocele, Dandy-Walker malformation, Hydrocephalus OMIM:607361
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Hydrocephalus, Camptodactyly, Encephalocele, Joint contrac... OMIM:224400
16P13.2 Microdeletion Syndrome
Flexion contracture, Dilated third ventricle, Ventriculomegaly, Hydrocephalus, Hypogonadism ORPHA:500055
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Hydrocephalus OMIM:614576
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Micropenis, Cryptorchidism, Male pseudohermaphrodit... ORPHA:90796
Trisomy 17P
Hydrocephalus, Flexion contracture, Skeletal muscle atrophy, Macroglossia ORPHA:261290
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Accessory spleen, Micropenis, Cryptorchidism, Patent urachus, Bifid scrotu... OMIM:618280
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Left ventricular hypertrophy, Increased CSF lactate, Hyperglycorrhachia ORPHA:90065
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Bresek Syndrome
Hydrocephalus ORPHA:85284
Peho Syndrome
Flexion contracture, Ventriculomegaly, Arthrogryposis multiplex congenita, Hydrocephalus ORPHA:2836
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Ventriculomegaly, Hydrocephalus OMIM:616538
Microphthalmia, Syndromic 9
Hypoplastic spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Renal hypoplasia, Bicornuat... OMIM:601186
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Hydrocephalus, Campto... OMIM:207410
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Irregular menstruation, Epiphyseal stippling, Calvarial hyperostos... OMIM:101800
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly ORPHA:2189
Arachnoiditis
Hydrocephalus ORPHA:137817
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventriculomegaly, Hypogonadism, Hydrocephalus OMIM:300514
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Proteus-Like Syndrome
Communicating hydrocephalus, Hyperostosis, Hydrocephalus ORPHA:2969
Iniencephaly
Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Dandy-Walker malformation, Spinal... ORPHA:63259
H Syndrome
Amenorrhea, Azoospermia, Osteolysis, Hydrocephalus, Camptodactyly, Hypogonadism ORPHA:168569
3C Syndrome
Dandy-Walker malformation, Ventriculomegaly, Hydrocephalus ORPHA:7
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Whipple Disease
Erectile dysfunction, Myositis, Hydrocephalus ORPHA:3452
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:1834
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Facial hypotonia OMIM:619320
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Cryptorchidism, Renal hypoplasia, Bladd... ORPHA:322
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Elbow flexion contracture, Sclerosis of skull base, Knee flexion contracture OMIM:618162
B4Galt1-Cdg
Dandy-Walker malformation, Hydrocephalus ORPHA:79332
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Hydrocephalus ORPHA:2075
Desmosterolosis
Ventriculomegaly, Generalized osteosclerosis, Arthrogryposis multiplex congenita, Hydrocephalus, ... OMIM:602398
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Hydrocephalus ORPHA:626
Hurler Syndrome
Cranial hyperostosis, Flexion contracture, Macroglossia, Calvarial hyperostosis, Hydrocephalus OMIM:607014
Distal Tetrasomy 15Q
Craniosynostosis, Flexion contracture, Dandy-Walker malformation, Hydrocephalus, Camptodactyly ORPHA:314588
Desmosterolosis
Osteopetrosis, Increased bone mineral density, Ventriculomegaly, Hydrocephalus ORPHA:35107
Oculocerebral Hypopigmentation Syndrome, Preus Type
Reduced bone mineral density, Hydrocephalus ORPHA:2720
Fg Syndrome Type 1
Craniosynostosis, Progressive flexion contractures, Ventriculomegaly, Hydrocephalus ORPHA:93932
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Generalized osteoporosis, Craniosynostosis, Osteopenia, Osteoporosis, Congenital diaphragmatic he... OMIM:245600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus OMIM:616482
Multiple Sulfatase Deficiency
Increased CSF protein, Ventriculomegaly, Hydrocephalus OMIM:272200
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:615219
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Dystonia 7, Torsion
Torticollis, Skeletal muscle hypertrophy OMIM:602124
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Flexion contracture, Macroglossia OMIM:309900
Arachnoid Cyst
Lower limb muscle weakness, Enlarged fossa interpeduncularis, Hydrocephalus, Facial palsy, Holopr... ORPHA:2356
Gracile Bone Dysplasia
Decreased skull ossification, Hydrocephalus OMIM:602361
Chromosome 6Pter-P24 Deletion Syndrome
Dandy-Walker malformation, Hydrocephalus OMIM:612582
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Hydrocephalus ORPHA:1860
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Congenital diaphragmatic hernia, Hydrocephalus ORPHA:1335
Tetrasomy 5P
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrocephalus ORPHA:3309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Encephalocele OMIM:614643
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Cervical myelopathy, Macroglossia OMIM:253200
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Flexion contracture, Macroglossia OMIM:253220
Cushing Syndrome Due To Ectopic Acth Secretion
Suicidal ideation, Leukocytosis, Decreased eosinophil count, Anxiety, Increased urinary cortisol ... ORPHA:99889
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Hydrocephalus OMIM:618590
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Craniosynostosis, Hydrocephalus OMIM:616914
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Micropenis, Cryptorchidism, Absent penis, Abnormal scrotal rugation, Ambig... ORPHA:284339
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility OMIM:244400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Premature ovarian in... OMIM:241080
Pfeiffer Syndrome
Coronal craniosynostosis, Hydrocephalus OMIM:101600
Chromosome 6Q24-Q25 Deletion Syndrome
Dilation of lateral ventricles, Hydrocephalus OMIM:612863
Mirage Syndrome
Radial club hand, Hypergonadotropic hypogonadism, Hydrocephalus OMIM:617053
Lhermitte-Duclos Disease
Hydrocephalus, Macroglossia ORPHA:65285
Acromesomelic Dysplasia 3