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Gene: Trabd2b MGI:3650152

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Gene Summary

Name:
TraB domain containing 2B
Synonyms:
Gm12824,  Hkat

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
enlarged adrenal glands Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
hydrocephaly Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 2.09×10-11
thick ventricular wall Trabd2bem2(IMPC)Ccpcz HOM Early adult 6.39×10-05
abnormal cranium morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 3.81×10-12
abnormal adrenal gland morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 7.17×10-16
abnormal snout morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 3.76×10-11
increased blood urea nitrogen level Trabd2bem2(IMPC)Ccpcz HOM   Early adult 3.34×10-05
enlarged thymus Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal joint morphology Trabd2bem2(IMPC)Ccpcz HOM   Early adult 6.81×10-06
abnormal thymus morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal brain morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal head morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 1.77×10-10
abnormal vocalization Trabd2bem2(IMPC)Ccpcz HOM   Early adult 8.48×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Hind Leg and Hip

37 Images

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XRay Images Whole Body Lateral Orientation

18 Images

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XRay Images Skull Lateral Orientation

17 Images

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XRay Images Forepaw

17 Images

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Human diseases caused by Trabd2b 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 Trabd2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Increased circulating co... OMIM:219080
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly OMIM:618709
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge, Thrombocytopenia OMIM:209970
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... ORPHA:96181
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... ORPHA:231580
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hip dislocation ORPHA:250994
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... ORPHA:90790
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Wide nasal b... OMIM:618577
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short neck, Hydrocephalus, Mitral valve prolapse, Cubitus valgus,... ORPHA:2183
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Masa Syndrome
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis OMIM:303350
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation OMIM:123155
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation OMIM:607091
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration OMIM:266100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Kyphoscoliosis, Cardiomegaly OMIM:300886
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Cryptorchidism, Hydrocephalus, Abnormality of the elbow,... ORPHA:2701
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Scoliosis OMIM:300884
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, H... OMIM:613330
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... OMIM:202010
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Kleeblattschaedel
Hydrocephalus, Elbow ankylosis, Craniosynostosis OMIM:148800
Fried Syndrome
Hydrocephalus, Scoliosis ORPHA:85335
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Gorlin Syndrome
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Hemivertebrae, Wi... ORPHA:377
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Craniosynostosis, Short neck, Hydrocephalus, Wide nasal bridge ORPHA:1516
3C Syndrome
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Adrenal hypoplasia... ORPHA:7
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... ORPHA:2635
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Edinburgh Malformation Syndrome
Hydrocephalus, Neonatal hyperbilirubinemia OMIM:129850
Greig Cephalopolysyndactyly Syndrome
Delayed cranial suture closure, Craniosynostosis, Cryptorchidism, Hydrocephalus, Wide nasal bridg... OMIM:175700
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia OMIM:619302
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Doors Syndrome
Adrenal hyperplasia, Sagittal craniosynostosis, Hemivertebrae, Wide nasal bridge, Congenital hypo... ORPHA:79500
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... ORPHA:649929
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... ORPHA:254516
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Aicardi-Goutieres Syndrome 4
Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ... OMIM:610333
Congenital Toxoplasmosis
Ventriculomegaly, Cardiomegaly, Hydrocephalus, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Dextrocardia, Short neck... OMIM:613686
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Abnormality of the vertebral colum... OMIM:276950
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Hydrocephalus, Scoliosis, Shoulder dislocation ORPHA:2181
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, Wide nasal bridge, Mitra... OMIM:104350
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Short nose ORPHA:1914
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Delayed puberty, Episodic hemolyt... ORPHA:251004
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormal sacrum morphology, Spinal dysr... ORPHA:1926
Infantile Sialic Acid Storage Disease
Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes OMIM:269920
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... OMIM:616222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Elevated circulating creatinine concentration, Scoliosis, Increased bloo... OMIM:223900
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Hip dislocation, Short nose, Anterior hypopituitarism OMIM:241800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Hemivertebrae, Wide nasal bridge, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2180
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
B4Galt1-Cdg
Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, Wide nasal bridg... ORPHA:79332
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Increased laxity of ankles, Hydrocephalus, Scoliosis ORPHA:99947
Thanatophoric Dysplasia Type 2
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Atrial septal defect, V... ORPHA:93274
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Genu recurvatum, Splenomegaly, Abnormality of th... ORPHA:2969
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Atrial septal defec... ORPHA:2655
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Decreased response to growth hormone stimulation test, Hyperlordosis,... OMIM:616007
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Elevated circulating C-reactive protein concentration, Elevated... ORPHA:49041
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Hydrocephalus, Osteoarthritis, Genu valgum, Art... ORPHA:53
Orthostatic Hypotension 1
Hypomagnesemia, Reduced circulating prolactin concentration, Increased blood urea nitrogen OMIM:223360
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect, Hydrocephalus, Ventriculomegaly OMIM:602501
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Distal symphalangi... OMIM:154230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Cockayne Syndrome Type 1
Cryptorchidism, Scoliosis, Increased blood urea nitrogen, Male hypogonadism, Anemia ORPHA:90321
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, Knee flexion contracture,... OMIM:603387
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hemivertebrae, Holoprosencephaly, Abnor... ORPHA:77298
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopeni... OMIM:617053
Hereditary Renal Hypouricemia
Back pain, Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Wide nasal bridge, Aortic valve stenosis, Dandy-Walker m... OMIM:220220
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Decreased... OMIM:616034
Emanuel Syndrome
Sacral dimple, Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Ventricular sept... OMIM:609029
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Radioulnar synostosis, Short nose ORPHA:171839
Diencephalic Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge, Craniosynostosis ORPHA:380
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Ventricular septal defect, Sho... OMIM:300514
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Hydrocephalus, Wide nasal bridge, Hyperbilirubinemia,... OMIM:614886
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Hydro... OMIM:264480
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ventricular septal defect OMIM:611812
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Kyphosis, Wide nasal bridge, Abnormal cardiac septum morphology, S... ORPHA:2075
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Anemia, Increased blood urea nit... ORPHA:230
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Hemivertebrae, Scoliosis, Decreased testicular size ORPHA:85284
6P22 Microdeletion Syndrome
Hydrocephalus, Short neck ORPHA:251046
Achondroplasia
Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Hydrocephalus, Spinal canal stenosis, Fl... ORPHA:15
Emanuel Syndrome
Sacral dimple, Ventriculomegaly, Congenital hip dislocation, Truncus arteriosus, Kyphoscoliosis, ... ORPHA:96170
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Abnormality of the spleen, Hydrocephalus, Abnormal form of t... ORPHA:1834
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Coronal craniosynostosis, Scoliosis, Wormian bones, V... OMIM:112240
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Short neck, Spleno... OMIM:253220
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Alexander Disease Type I
Hydrocephalus, Scoliosis ORPHA:363717
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:613155
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Hydrocephalus, Abnormal form of the vertebral bodies ORPHA:93262
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Camptodactyly of finger, Ventriculomegaly ORPHA:272
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Short neck, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormal heart morph... ORPHA:1865
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Craniosynostosis, Splenomegaly, Hydrocepha... OMIM:259700
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Bile duct prol... OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Left ventric... OMIM:613153
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Kyp... OMIM:619951
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hydrocephalus, Hyperhomocystinemia, Increased... ORPHA:2169
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Splenomegaly, Hydrocephalus, Genu valgum, Ventriculomegaly OMIM:615630
Hurler Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Short neck, Splenomegaly, Hydrocephalus... ORPHA:93473
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Cryptorchidism, K... OMIM:130720
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Houge-Janssens Syndrome 1
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Scoliosis OMIM:616355
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Abnormality of the vertebral column, Hip dislocation, Ventriculomegaly OMIM:109120
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Hydrocephalus, Platyspondyly OMIM:300863
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of t... OMIM:306955
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal bridge OMIM:616521
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Dextrocardia, Hydrocephalus, Abnormality of the vertebral column, Transposition of... OMIM:314390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Scoliosis, Short nose, Acetabular dysplasia, Ventriculomegaly OMIM:619833
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia ORPHA:163596
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Elevated circulating cre... ORPHA:370959
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Sp... OMIM:101800
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Dislocated radial head OMIM:304100
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Dextrocardia, Myelomeningocele, Hydrocephalus, Hypoplastic... ORPHA:2437
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly ORPHA:163961
Griscelli Syndrome
Encephalocele, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Lymphadenopathy, Leukopen... ORPHA:381
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Ventriculomegaly, Hydrocephalus, Scoliosis OMIM:616362
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly,... OMIM:236680
Hurler Syndrome
Short neck, Splenomegaly, Hypoplasia of the odontoid process, Kyphosis, Hydrocephalus, Wide nasal... OMIM:607014
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro... ORPHA:90065
Cole-Carpenter Syndrome 2
Wide cranial sutures, Kyphosis, Hydrocephalus, Platyspondyly, Lambdoidal craniosynostosis, Wormia... OMIM:616294
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Short neck, Cryptorchidism, Hydrocephalus, Hypertrophic cardiomyopathy... OMIM:612938
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:218350
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Craniosynostosis, Short neck, Cardiomegaly, Hydrocephalus, Multiple joint ... OMIM:245600
Triploidy
Short neck, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holop... ORPHA:3376
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Intellectual Developmental Disorder, X-Linked 30
Short nose, Hydrocephalus OMIM:300558
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Atrial septal defec... ORPHA:1860
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventriculomegaly, Ventricular septal defect, Elevated circulating creatine kinase c... OMIM:614576
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Knee contracture, Wide nasal brid... OMIM:620351
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Crouzon Syndrome
Abnormal sacrum morphology, Hydrocephalus, Multiple suture craniosynostosis ORPHA:207
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Hydrocephalus, Dilated cardiomyopa... ORPHA:398124
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Abnormal form of the vertebral bodies, Scol... ORPHA:475
Mucopolysaccharidosis Type 1
Joint dislocation, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Spinal canal ste... ORPHA:579
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Elevated circulating creatine kinase concentration, Spinal rigidity, Hydrocephalus... OMIM:253800
1Q44 Microdeletion Syndrome
Prominent metopic ridge, Hydrocephalus, Abnormal cardiac septum morphology, Scoliosis, Ventriculo... ORPHA:238769
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Kyphoscoliosis, Spina bifida, Hydrocephalus, Hemivertebrae, Wi... OMIM:109400
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Hydrocephalus, Platyspondyly ORPHA:163966
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Coach Syndrome 2
Hydrocephalus, Elevated circulating creatinine concentration OMIM:619111
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Camptodactyly of finger, Spina bifida, Hydrocephalus, Prominent protruding ... ORPHA:2839
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Distal Triplication 15Q
Craniosynostosis, Kyphosis, Hydrocephalus, Abnormal heart morphology, Hydrocele testis, Scoliosis... ORPHA:314588
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Asplenia, Situs inversus totalis, Hydrocepha... ORPHA:244
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia, Hydrocephalus, Scoliosis, Abnormality of the hypothalamus-pituitary ... ORPHA:220493
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Large joint dislocations, Cran... ORPHA:536467
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Sclerotic vertebral body, Kyphosis, Hydrocephalus, Platyspondyly, Hypocalcemia,... OMIM:618476
Fanconi Anemia, Complementation Group R
Hydrocephalus, Scoliosis, Bone marrow hypocellularity, Anemia OMIM:617244
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Hydrocephalus, Hepatosplenomegaly, Lumbar kyp... ORPHA:505248
Fg Syndrome Type 1
Limited elbow extension and supination, Sacral dimple, Craniosynostosis, Cryptorchidism, Hydrocep... ORPHA:93932
Whipple Disease
Hyponatremia, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Hydrocephalus, Myocarditis... ORPHA:3452
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydr... ORPHA:1666
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Crouzon Syndrome
Sagittal craniosynostosis, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:123500
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o... OMIM:253200
Trisomy 17P
Prominent metopic ridge, Short neck, Hydrocephalus, Hypoplastic left heart, Scoliosis, Aortic val... ORPHA:261290
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Scoliosis OMIM:617542
Multiple Sulfatase Deficiency
Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies, Increased CSF protein concentration, V... OMIM:272200
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele, Elevated circulating creatine kinase concentration ORPHA:588
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Tarsal synostosis, Camptodactyly of finger, Elbow... ORPHA:90652
Lowry-Maclean Syndrome
Craniosynostosis, Bilateral cryptorchidism, Hydrocephalus, Widely patent coronal suture, Short no... ORPHA:2409
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Hydrocephalus OMIM:273395
Tetrasomy 15Q26
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Kyphoscoliosis OMIM:614846
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hemivert... ORPHA:3412
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Short neck, Hydrocephalus, Atrial septal defect, Tetralogy of Fallot, ... OMIM:612582
Edinburgh Malformation Syndrome
Short nose, Hydrocephalus ORPHA:1895
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus, Scoliosis, Hypoinsulinemia, Delayed cranial suture closure OMIM:616260
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Kyphosis, Hydrocephalus, Cardiac fibroma, Abnormality of the vertebr... ORPHA:77301
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Sec... ORPHA:91350
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Genu valgu... OMIM:259710
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormal heart morphology OMIM:601499
Monosomy 18Q
Absence of the pulmonary valve, Kyphoscoliosis, Bilateral cryptorchidism, Secundum atrial septal ... ORPHA:1600
Hajdu-Cheney Syndrome
Ventricular septal defect, Kyphoscoliosis, Short neck, Cryptorchidism, Hydrocephalus, Tall lumbar... OMIM:102500
Achondroplasia
Lumbar hyperlordosis, Hydrocephalus, Lumbar kyphosis in infancy, Spinal stenosis with reduced int... OMIM:100800
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation OMIM:607361
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Short neck, Cryptorchidism, Hydrocephalus, Genu valgum, Hypertro... ORPHA:1340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Hydrocephalus, Wide nasal bridge OMIM:620157
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormone stimulation test, ... ORPHA:363958
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Wide nasal bridge, Thrombocytopenia ORPHA:1237
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Ventriculomegaly OMIM:617866
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Tetralogy of Fallot, Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Elevated circulating creatine kinase concentration, Scoliosis OMIM:615249
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Kyphosis, Hydrocephalus, Hypogonadism, Scoliosis, Dilated third ventricle, Ventri... ORPHA:500055
Thanatophoric Dysplasia, Type I
Hydrocephalus, Platyspondyly, Severe platyspondyly, Short neck OMIM:187600
Cole-Carpenter Syndrome
Communicating hydrocephalus, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Wormian ... ORPHA:2050
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Short neck, Splenomegaly, Hydrocephalus, Kyphosis, Hepatosplenom... OMIM:309900
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Short neck, Cryptorchidism, Hydrocephalus, Leukemia, Pulmonic stenosis, Atrial ... OMIM:257300
Holoprosencephaly
Hyponatremia, Encephalocele, Diabetes mellitus, Diabetes insipidus, Ventricular septal defect, Ab... ORPHA:2162
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Spina bifida, Short neck, Hydrocephalus, Elbow flexion contracture, Knee flexion c... OMIM:613776
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Trisomy 1Q
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:261344
Cutis Laxa, Autosomal Recessive, Type Iib
Wormian bones, Hydrocephalus, Congenital hip dislocation, Scoliosis OMIM:612940
Aymé-Gripp Syndrome
Prominent metopic ridge, Pericarditis, Delayed cranial suture closure, Craniosynostosis, Pericard... ORPHA:1272
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventriculom... ORPHA:1647
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Short neck, Hemivertebrae, Transposition ... ORPHA:1780
Hajdu-Cheney Syndrome
Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5th lumbar vertebrae, Splenom... ORPHA:955
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Vaginal hydrocele, Endocardial fibroelastosis ORPHA:2119
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Hydrocephalus, Wide nasal bridge, Hydrocele testis, Short nose, Ventriculomegaly OMIM:613603
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Short nose, Hypothyroidism, Ventriculomegaly ORPHA:1812
Apert Syndrome
Overriding aorta, Ventricular septal defect, Delayed cranial suture closure, Limited elbow moveme... OMIM:101200
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Abnormal form of the vertebra... ORPHA:3042
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Craniosynostosis, Cryptorchidism, Hydrocephalus, Genu valgum, Mitral valve prola... OMIM:182212
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Thrombocytopenia, Leukocytosis, Spl... OMIM:259720
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Crypto... ORPHA:2462
Kabuki Syndrome
Ventriculomegaly, Precocious puberty, Cryptorchidism, Hydrocephalus, Vertebral clefting, Hemivert... ORPHA:2322
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Cardiofaciocutaneous Syndrome 1
Short neck, Splenomegaly, Hydrocephalus, Hypertrophic cardiomyopathy, Scoliosis, Pulmonic stenosi... OMIM:115150
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Scoliosis ORPHA:2318
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating acylcarnit... ORPHA:228308
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Scoliosis ORPHA:220497
Jacobsen Syndrome
Ventricular septal defect, Short neck, Cryptorchidism, Hydrocephalus, Annular pancreas, Holoprose... OMIM:147791
22Q11.2 Deletion Syndrome
Short neck, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Hypothyroidism, Hypopar... ORPHA:567
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Short neck OMIM:620156
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Wide nasal bridge, Abnormal heart morphology, Delayed ossification of carpal bones... OMIM:239300
Trisomy 8P
Sacral dimple, Abnormal atrioventricular connection, Short neck, Cryptorchidism, Hydrocephalus, A... ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 65
Noncommunicating hydrocephalus, Prominent metopic ridge, Wide nasal bridge OMIM:619320
Cousin Syndrome
Dislocation of the femoral head, Short neck, Hydrocephalus, Humeroradial synostosis, Prominent pr... OMIM:260660
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Muenke Syndrome
Carpal synostosis, Hydrocephalus, Tarsal synostosis, Coronal craniosynostosis ORPHA:53271
Apert Syndrome
Hydrocephalus, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm, Vertebral segmentation defect, ... ORPHA:87
Pfeiffer Syndrome
Hydrocephalus, Humeroradial synostosis, Coronal craniosynostosis, Short nose, Elbow ankylosis OMIM:101600
Marshall-Smith Syndrome
Atrial septal defect, Thoracic scoliosis, Ventricular septal defect, Kyphoscoliosis, Craniosynost... OMIM:602535
Pettigrew Syndrome
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Scoliosis, Dandy-Walker malformation OMIM:304340
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Short nose, Hydrocephalus, Scoliosis OMIM:618590
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, L... OMIM:612863
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Dandy-Walk... ORPHA:459061
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Short nose, Dandy-Walker malformation OMIM:617822
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Short neck, Hydrocephalus, Advanced ossification of carpal bones, Joint contractur... OMIM:224400
Tetrasomy 5P
Hydrocephalus, Short nose, Wide nasal bridge, Short neck ORPHA:3309
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphol... ORPHA:2166
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Abnormal cardiac septum morphology, Scoliosis ORPHA:250989
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Hydrocephalus, Knee f... OMIM:618162
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Dextrocardia, Conjugated hyper... OMIM:620305
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus, Aortic valve... OMIM:231005
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Wide nasal bridge, Ventriculomegaly OMIM:614969
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep... OMIM:613001
Dubowitz Syndrome
Hypoparathyroidism, Sacral dimple, Delayed cranial suture closure, Abnormality of neutrophils, Cr... ORPHA:235
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Hypoplastic spleen, Hypocalcemia OMIM:602361
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Pterygium, Dandy-Walker malformation, Ventriculomegaly OMIM:225790
Desmosterolosis
Ventriculomegaly, Hydrocephalus, Abnormal circulating cholesterol concentration, Total anomalous ... OMIM:602398
Coccidioidomycosis
Pericarditis, Eosinophilia, Abnormality of the endocrine system, Abnormality of the spleen, Media... ORPHA:228123
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... OMIM:600145
Alexander Disease
Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Aqueductal stenosis, ... ORPHA:58
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Hydrocephalus, Abnormal cardiac ventricle morphology, Conotruncal defect, ... ORPHA:2306
Mend Syndrome
Sacral dimple, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Kyphosis... ORPHA:401973
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormally ossified vertebrae, Hydrocephalus ORPHA:3301
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Craniosynostosis, Kyphosis, Hydrocephalus, Mitral valve prolapse OMIM:616914
7Q11.23 Microduplication Syndrome
Sacral dimple, Ventricular septal defect, Craniosynostosis, Short neck, Cryptorchidism, Hydroceph... ORPHA:96121
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... OMIM:615219
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Camptodact... OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Elevated circulating creatine kinase concentration, Spinal rigidity, Hydrocephalus... OMIM:613150
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Increased serum testoste... ORPHA:8
Osteogenesis Imperfecta
Abnormal endocardium morphology, Ventriculomegaly, Cervical kyphosis, Protrusio acetabuli, Kyphos... ORPHA:666
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Wide cranial sutures, Wide nasal bridge, Ovaria... OMIM:618188
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Splenomegaly, Hydrocephalus, Scoliosis, Abnormality of the hypothalamus-... ORPHA:1454
Opitz-Kaveggia Syndrome
Sacral dimple, Lumbar hyperlordosis, Delayed closure of the anterior fontanelle, Short neck, Cryp... OMIM:305450
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Hydrocephalus OMIM:616482
Endocrine-Cerebroosteodysplasia
Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Holoprosencephaly, Ventricu... OMIM:612651
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostosis, Hydrocepha... ORPHA:314585
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Abnormal circulating creatine kinase concentration, Dandy-Walker m... ORPHA:899
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Short neck, Splenomegaly, Hydrocephalus, Anencephaly, Holoprosencephal... OMIM:269860
H Syndrome
Hypertriglyceridemia, Diabetes mellitus, Microcytic anemia, Hydrocephalus, Hepatosplenomegaly, Ly... ORPHA:168569
Arachnoid Cyst
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Abnormality of the endocrine system, ... ORPHA:2356
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Leukopenia, Tetralogy of Fallo... ORPHA:974
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Genu valgum, Pheochromocytoma, Scoliosis, Parat... OMIM:162200
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Hydrolethalus
Cryptorchidism, Hydrocephalus, Anencephaly ORPHA:2189
Desmosterolosis
Splenomegaly, Hydrocephalus, Anomalous pulmonary venous return, Short nose, Ventriculomegaly ORPHA:35107
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... OMIM:619895
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Gaucher Disease
Joint dislocation, Pancytopenia, Ventriculomegaly, Mitral valve calcification, Abnormal pericardi... ORPHA:355
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Marden-Walker Syndrome
Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Situs inversus totalis, Kyphosi... ORPHA:2461
Congenital Sialidosis Type 2
Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly ORPHA:93400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Ventriculomegaly, Mitral valve calcification, Abnormality of the spleen, Splenomega... ORPHA:2072
Meningioma
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypog... ORPHA:2495
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Delayed closure of the anterior fontanelle, Hydr... OMIM:300373
Kabuki Syndrome 1
Joint dislocation, Hemolytic anemia, Congenital hip dislocation, Ventricular septal defect, Prema... OMIM:147920
Pseudoaminopterin Syndrome
Limited elbow movement, Sagittal craniosynostosis, Asplenia, Cryptorchidism, Hydrocephalus, Sacro... ORPHA:221120
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Mucopolysaccharidosis Type 3
Cardiomegaly, Splenomegaly, Hydrocephalus, Abnormal form of the vertebral bodies, Genu valgum, Ab... ORPHA:581
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Short neck, Conjugated hyperbilirubine... ORPHA:168577
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Prominent metopic ridge, Congenital hip dislocation, Aqueductal stenosis, Cryptorchidism, Hydroce... OMIM:619512
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Iniencephaly
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Hydrocephalus, Ane... ORPHA:63259
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Prominent metopic ridge, Ventricular septal defect, Short neck, Elbow dislocatio... OMIM:210710
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Rhombencephalosynapsis
Short nose, Hydrocephalus, Ventriculomegaly ORPHA:59315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Lateral vent... OMIM:613154
Nephronophthisis 18
Hydrocephalus OMIM:615862
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Thoracic scoliosis, Kyphoscoliosis, Genu valgum, Lateral ventricle dilatation, Normal pressure hy... ORPHA:300570
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Hydrocephalus, Re... OMIM:227646
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Precocious puberty,... OMIM:194190
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Atrial septal defect, Ventriculomegaly, Spina bifida,... ORPHA:84
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Short neck, Hydrocephalus, Wide nasal bridge, Bone marrow hypocellularity, An... OMIM:614083
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrocephalus, Dilated cardiomyo... ORPHA:79282
Peho Syndrome
Short nose, Hydrocephalus, Ventriculomegaly ORPHA:2836
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Cryptorchidism, En... OMIM:139210
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus, Tarsal synostosis, Abnormality of the wrist ORPHA:2378
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Hydrocephalus, Genu valgum, Hypoplasia of the ovary, Azotemia, Short nose, Decrease... OMIM:619321
Rabin-Pappas Syndrome
Hyponatremia, Hydrocephalus, Wide nasal bridge OMIM:620155
Hemangioblastoma
Hydrocephalus ORPHA:252054
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Glutaric Acidemia I
Elevated circulating glutaric acid concentration, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Humeroradial synostosis, Lambdoidal craniosynostosis, Atrial septal defect, Corona... OMIM:207410
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Thoracic scoliosis, Cervical kyphosis, Kyphoscoliosis, Spina ... OMIM:114290
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Microphthalmia With Limb Anomalies
Tarsal synostosis, Elbow dislocation, Cryptorchidism, Hydrocephalus, Hip dislocation, Abnormal fo... ORPHA:1106
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Hydrocephalus, H... ORPHA:163979
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Bile duct proliferation OMIM:612284
Smith-Lemli-Opitz Syndrome
Sacral dimple, Ventricular septal defect, Precocious puberty, Cryptorchidism, Splenomegaly, Hydro... OMIM:270400
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Ventriculomegaly OMIM:219730
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... OMIM:616084
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrocephalus, Hyperhomocystinem... OMIM:277400
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Craniosynostosis ORPHA:1555
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Hydrocephalus, Limited elbow extension, Hip dislo... OMIM:154400
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Wide nasal bridge, Lobar holoprosencephaly, Holoprosence... OMIM:610828
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Mohr Syndrome
Wormian bones, Hydrocephalus, Scoliosis OMIM:252100
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Hydrocephalus, Ventricular septal defect ORPHA:268249
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele, Ventriculome... OMIM:616546
Plasminogen Deficiency, Type I
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Medulloblastoma
Back pain, Hydrocephalus, Delayed cranial suture closure ORPHA:616
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Short nose, Hydrocephalus ORPHA:93259
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal mitral valve morphology, ... ORPHA:580
Multiple Sulfatase Deficiency
Splenomegaly, Hydrocephalus ORPHA:585
Mend Syndrome
Sacral dimple, Cryptorchidism, Kyphosis, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malfo... OMIM:300960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:616538
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia, Cystathioninemia, Ventriculomegaly ORPHA:395
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts,... ORPHA:564
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Hydrocephalus,... ORPHA:261337
Osteootohepatoenteric Syndrome
Anemia, Hypokalemia, Hydrocephalus, Increased serum bile acid concentration OMIM:619377
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Fontaine Progeroid Syndrome
Atrial septal defect, Absent nipple, Bicuspid aortic valve, Craniosynostosis, Cryptorchidism, Hyd... OMIM:612289
Lhermitte-Duclos Disease
Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Raine Syndrome
Short nose, Short neck, Hydrocephalus, Hypophosphatemia OMIM:259775
Arachnoiditis
Hydrocephalus ORPHA:137817
Icf Syndrome
Anemia, Lymphopenia, Communicating hydrocephalus, Abnormality of neutrophils ORPHA:2268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Hydrocephalus, Wide nasal ... OMIM:619475
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus, Situs inversus totalis OMIM:244400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Me... OMIM:236670
Neurofibromatosis Type 1
Abnormality of the endocrine system, Cryptorchidism, Kyphosis, Precocious puberty, Hydrocephalus,... ORPHA:636
Oeis Complex
Absence of the sacrum, Congenital hip dislocation, Cryptorchidism, Myelomeningocele, Sacral segme... OMIM:258040
Simpson-Golabi-Behmel Syndrome, Type 1
Atrial septal defect, Ventricular septal defect, Supernumerary nipple, Splenomegaly, Cryptorchidi... OMIM:312870
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Kyphosis, Hypogonadism, Scoliosis, Elbow ankylosis, Delayed crania... ORPHA:2658
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Secundum atria... OMIM:619534
Stromme Syndrome
Accessory spleen, Hydrocephalus, Wide nasal bridge OMIM:243605
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Hydrocephalus, Lymphadenopat... ORPHA:667
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Metopic synostosis OMIM:608091
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Craniosynostosis, Hydrocephalus, Short nose, Dandy-Walker malfor... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu... OMIM:614643
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Craniosynostosis, Enlarged polycystic ovaries, Splenomeg... ORPHA:744
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pancytopenia, Craniosynostosis, Short neck, Hepatosplenomegaly, Genu... ORPHA:309282
Orofaciodigital Syndrome I
Pancreatic cysts, Myelomeningocele, Hydrocephalus, Wide nasal bridge, Abnormal heart morphology, ... OMIM:311200
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Genu valgum, Abnormal he... ORPHA:363700
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Sacral dimple, Pericarditis, Dextrocardia, Short neck, Cry... ORPHA:3310
Baller-Gerold Syndrome
Bicoronal synostosis, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Hydroc... OMIM:218600
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Joint dislocation, Subependymal nodules ORPHA:25
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Hydrocephalus, Limited elbow extension, Ventriculomegaly OMIM:123790
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Craniosynostosis, Hydrocephalus, Bicuspid pulmonary valve, Cervical spine ... OMIM:609192
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Delayed closure of ... OMIM:607872
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Hypocalcemic seizures, Anemia OMIM:612301
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Peters Plus Syndrome
Sacral dimple, Short neck, Cryptorchidism, Hydrocephalus, Bicuspid pulmonary valve, Congenital hy... ORPHA:709
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Hydrocephalus, Dilated cardiomyopathy, Wide nasal bridge, Mitral valve prolapse, A... ORPHA:2556
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Hydrocephalus, Ventriculomegaly, Scoliosis ORPHA:457284
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea... OMIM:615287
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Delayed closure of the anterior fontanelle, Short neck, Secundum atrial sep... OMIM:264090
Hypoplasminogenemia
Hydrocephalus, Decreased level of plasminogen, Abnormality of the ovary, Dandy-Walker malformation ORPHA:722
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Craniosynostosis ORPHA:1064
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation OMIM:619575
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Colpocephaly, Atrial septal defect, H... OMIM:309801
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Hyperlordosis, Kyphosis, Scoliosis, Ventriculomegaly OMIM:617011
Costello Syndrome
Ventricular septal defect, Limited elbow movement, Short neck, Hydrocephalus, Mitral valve prolap... OMIM:218040
Cockayne Syndrome A
Hip contracture, Splenomegaly, Cryptorchidism, Kyphosis, Thymic hormone decreased, Hypogonadism, ... OMIM:216400
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hydrocephalus, Cardiomegaly, Polycystic ovaries ORPHA:137675
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopia cordis OMIM:313850
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Congenital hip dislocation, Kyphoscoliosis, Short neck, Spina bifida, Crypt... OMIM:304120
Fetal Akinesia Deformation Sequence 1
Hip contracture, Camptodactyly of finger, Short neck, Cryptorchidism, Hydrocephalus, Wrist flexio... OMIM:208150
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocep... ORPHA:805
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Metopic synostosis, ... ORPHA:457359
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Protrusio acetabuli, Craniosynostosis, Hydrocephalus, Bicuspid pulmonary v... OMIM:610168
Peters-Plus Syndrome
Ventricular septal defect, Bilobate gallbladder, Limited elbow movement, Short neck, Craniosynost... OMIM:261540
Coffin-Siris Syndrome 12
Cryptorchidism, Patent foramen ovale, Noncommunicating hydrocephalus, Ridged cranial sutures, Rad... OMIM:619325
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Wide nasal bridge, Abnormal heart... OMIM:219000
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Short neck, Craniosynosto... OMIM:268300
Yunis-Varon Syndrome
Wide cranial sutures, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Hip... ORPHA:3472
Cryptococcosis
Mediastinal lymphadenopathy, Hydrocephalus, Lymphoid leukemia ORPHA:1546
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Focal Dermal Hypoplasia
Congenital hip dislocation, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele... OMIM:305600
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium, Lymphadenopathy ORPHA:538
Cockayne Syndrome B
Splenomegaly, Cryptorchidism, Normal pressure hydrocephalus, Kyphosis OMIM:133540
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormal heart morphology ORPHA:137667
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Anterior pituitary hypoplasia, Cryptorchidism, Mild fetal ventriculo... OMIM:619841
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Abnormal joint morphology, Abnormal heart morphology ORPHA:322
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Townes-Brocks Syndrome 1
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Atrial septal defect... OMIM:107480
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Ventricular septal defect, Hydrocephalus, Hemivertebrae... OMIM:164210
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Elevated circulating creatine kinase concentration, Ventriculomegaly OMIM:253280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:175780

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.

There is no histopathology data for Trabd2b

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 Trabd2b.

No publications found that use IMPC mice or data for Trabd2b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Trabd2bem2(IMPC)Ccpcz Indel Mice, Tissue
Trabd2btm99198(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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