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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
abnormal snout morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 2.78×10-11
abnormal adrenal gland morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 2.09×10-11
abnormal joint morphology Trabd2bem2(IMPC)Ccpcz HOM   Early adult 6.81×10-06
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
enlarged adrenal glands Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
thick ventricular wall Trabd2bem2(IMPC)Ccpcz HOM Early adult 6.44×10-05
abnormal brain morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal head morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 1.35×10-10
abnormal vertebrae morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 7.17×10-16
hydrocephaly Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal cranium morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 3.81×10-12

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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 Skull Lateral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Hind Leg and Hip

37 Images

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X-ray

XRay Images Forepaw

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... ORPHA:403
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... ORPHA:404
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertrophy, Gluco... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Ventriculomegaly, Hydrocephalus OMIM:618709
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Hyperaldosteronism, Adrenal hyperplasia, Ventricular septal defect, Hypo... ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Humeroradial synos... ORPHA:95699
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Beemer Lethal Malformation Syndrome
Wide nasal bridge, Hydrocephalus, Thrombocytopenia OMIM:209970
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Maternal Uniparental Disomy Of Chromosome 6
Ventriculomegaly, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombocyto... ORPHA:96181
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decrease... ORPHA:231580
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Orbital craniosynostosis, Dandy-Walker malformation ORPHA:1538
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus, Hip dislocation, Cryptorchidism ORPHA:250994
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Unilambdoid synostosis, Cryptorchidism, Hydrocephalus, Scoli... OMIM:618577
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration, Elevated circul... OMIM:266100
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse, Cubitus valgus, Short neck, Hydrocephalus, Abnormality of the hypothalamus... ORPHA:2183
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus, Kyphoscoliosis OMIM:300886
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Kyphosis, Hyperlordosis OMIM:303350
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Hydrocephalus, Abnormal intervert... ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Genu valgum, Butterfly vertebrae, Back pain, Kyphoscoliosis, Shor... OMIM:613330
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Developmental And Epileptic Encephalopathy 36
Scoliosis, Hydrocephalus OMIM:300884
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Adrenal medullary hypoplasia, Genu valgum, Patellar subluxation, Hydrocephalus OMIM:248000
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Hydrocephalus OMIM:129850
Fried Syndrome
Scoliosis, Hydrocephalus ORPHA:85335
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Short neck, Hydrocephalus, Craniosynostosis, Sacral dimple ORPHA:1516
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, H... ORPHA:2635
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Wide nasal bridge, Ventriculomegaly, Tetralogy of ... ORPHA:7
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... ORPHA:96253
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Situs inversus totalis, ... OMIM:613686
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Type II diabetes melli... ORPHA:254516
Doors Syndrome
Wide nasal bridge, Congenital hypothyroidism, Adrenal hyperplasia, Lumbar scoliosis, Sagittal cra... ORPHA:79500
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hepatosplenomegaly, Pancytopenia, Splenomegaly, CSF lymphocytic pleiocytosis, H... OMIM:610333
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal heart morphology, Hy... OMIM:276950
Congenital Toxoplasmosis
Ventriculomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hydrocephalus, Anemia ORPHA:858
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Joint contracture of the hand, Ventriculomegaly, Delayed cranial suture closur... OMIM:175700
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Scoliosis, Kyphosis, Shoulder dislocation ORPHA:2181
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi... OMIM:616222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
Diabetic Embryopathy
Spinal dysraphism, Tetralogy of Fallot, Cryptorchidism, Vertebral segmentation defect, Ventricula... ORPHA:1926
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Congenital hip dislocation, Absent nipple, Mitral valve prolapse, Cubitus valg... OMIM:104350
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Frontal encephalocele ORPHA:261102
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hydrocephalus, Vacuolated lymphocytes, Conjugated hyperbilirubinemia OMIM:269920
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Neuropathic arthropathy, Scoliosis, Increased bloo... OMIM:223900
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Increased blood urea nitrogen, Episodic hemolytic anemia, Craniosynostosis, Hype... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Punctate vertebral calcifications, Short neck, Hydrocephalus, Short nose ORPHA:1914
Congenital Hydrocephalus
Abnormal heart morphology, Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Reduced circulating prolactin conc... OMIM:223360
B4Galt1-Cdg
Wide nasal bridge, Splenomegaly, Elevated circulating creatine kinase concentration, Decreased LD... ORPHA:79332
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Proteus-Like Syndrome
Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycyst... ORPHA:2969
Pallister-Hall-Like Syndrome
Hip dislocation, Occipital encephalocele, Hydrocephalus, Anterior hypopituitarism, Short nose OMIM:241800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Abnormal form of the vertebral bodies, Hydrocephalus, Hemivertebrae, Scoliosis ORPHA:2180
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Hemivert... ORPHA:77298
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Thanatophoric Dysplasia
Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology, Atrial septal defect, Hydr... ORPHA:2655
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Hydrocephalus, Increased laxity of ankles ORPHA:99947
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Encephalocele, Atrial septal defect, Hydrocephalus, Holoprosence... ORPHA:93274
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus ORPHA:141333
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, S... OMIM:616007
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Hashimoto... ORPHA:49041
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Elevated circulating 2-trans,4-cis-decadienoylcarnitine ... OMIM:616034
Mirage Syndrome
Scoliosis, Lymphopenia, Decreased testicular size, Leukopenia, Adrenal insufficiency, Cryptorchid... OMIM:617053
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:154230
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Cockayne Syndrome Type 1
Male hypogonadism, Cryptorchidism, Increased blood urea nitrogen, Anemia, Scoliosis ORPHA:90321
Albers-Schönberg Osteopetrosis
Joint dislocation, Genu valgum, Hypocalcemia, Abnormal leukocyte morphology, Hydrocephalus, Osteo... ORPHA:53
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:602501
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Back pain ORPHA:94088
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Knee flexion contracture, Thoracic scoliosis, Ventricular septal defect, Atrial... OMIM:603387
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Hyperbilirubinemia, Double outlet right ventricle, Atrial sept... OMIM:614886
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Radioulnar synostosis, Hydrocephalus, Craniosynostosis, Short nose ORPHA:171839
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Ventriculomegaly, Sacral dimple, Cryptorchidis... OMIM:609029
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Diencephalic Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Genitopalatocardiac Syndrome
Wide nasal bridge, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Scoliosis, ... ORPHA:2075
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Hydrocephalus, Hemivertebrae, Scoliosis ORPHA:85284
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Orbital craniosynostosis, Communicating hydrocephalus, Wormian bones, H... OMIM:112240
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Ventriculomegaly, Aplastic anemia, Hypogonadism, Ventricular septa... OMIM:300514
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Wide nasal bridge, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker m... OMIM:220220
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Craniosynostosis, Hydrocephalus ORPHA:380
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Cryptorchidism, Ventricular septal defect, Encephalocele,... OMIM:264480
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ventricular septal defect OMIM:611812
Achondroplasia
Thoracolumbar kyphosis, Hip joint hypermobility, Cervical spinal canal stenosis, Lumbar hyperlord... ORPHA:15
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Emanuel Syndrome
Aortic valve stenosis, Congenital hip dislocation, Ventriculomegaly, Abnormality of the ankle, Hy... ORPHA:96170
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Anisospondyly, Abnormal heart morphology, Pterygium, Cryptorchidism, Encephalo... ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
6P22 Microdeletion Syndrome
Short neck, Hydrocephalus ORPHA:251046
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Increased blood urea nit... ORPHA:230
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Abnormality of the spleen, Vertebral segmentation defect, ... ORPHA:1834
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Secundum atrial septal defect, Supernumerary nipple, Camptodactyly of finger, Bicoronal synostosi... OMIM:619951
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hydrocephalus OMIM:618302
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethion... ORPHA:2169
Alexander Disease Type I
Scoliosis, Hydrocephalus ORPHA:363717
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Elevated circulating creatine kinase concentration, Left ventricular hypertroph... OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:613155
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Meningocele, Anenc... OMIM:611134
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the vertebral bodies ORPHA:93262
Lateral Meningocele Syndrome
Cryptorchidism, Biconcave vertebral bodies, Ventricular septal defect, Bicuspid aortic valve, Wor... OMIM:130720
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal encephalocele ORPHA:1528
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus, Camptodactyly of finger ORPHA:272
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Hypocalcemia, Splenomegaly, Hydrocephalus,... OMIM:259700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Genu valgum, Splenomegaly, Ventricular septal defect, Hydrocephalus OMIM:615630
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Hurler Syndrome
Wide nasal bridge, Abnormal vertebral morphology, Cardiomyopathy, Camptodactyly of finger, Abnorm... ORPHA:93473
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Ventricular septal defect OMIM:218350
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele,... ORPHA:1908
Houge-Janssens Syndrome 1
Congenital hip dislocation, Ventriculomegaly, Scoliosis, Hydrocephalus OMIM:616355
Griscelli Syndrome
Bone marrow hypocellularity, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, ... ORPHA:381
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Abnormality of the vertebral column, Hip dislocation OMIM:109120
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia, Pericarditis ORPHA:163596
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s... OMIM:101800
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Short neck, Hydrocephalus... OMIM:612938
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Dislocated radial head, Hydrocephalus OMIM:304100
Gorlin Syndrome
Wide nasal bridge, Abnormal vertebral morphology, Vertebral wedging, Cryptorchidism, Cardiac fibr... ORPHA:377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Hydrocephalus, Short nose OMIM:300863
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Increased CSF lactate, Leukocytosis, Left ventricular hypertrophy, Hypothyroidis... ORPHA:90065
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Wide cranial sutures, Wormi... OMIM:616294
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal bridge, Hydrocephalus OMIM:616521
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricle, Lumbar hyper... ORPHA:370959
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Czeizel-Losonci Syndrome
Myelomeningocele, Hypoplastic nipples, Thoracolumbar scoliosis, Hydrocephalus, Dextrocardia, Spin... ORPHA:2437
Houge-Janssens Syndrome 2
Ventriculomegaly, Scoliosis, Hydrocephalus, Prominent metopic ridge OMIM:616362
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Acetabular dysplasia, Colpocephaly, Hydrocephalus, Scoliosis, Short nose OMIM:619833
Hydrolethalus Syndrome 1
Accessory spleen, Complete atrioventricular canal defect, Ventricular septal defect, Adrenal glan... OMIM:236680
Triploidy
Cryptorchidism, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, Holop... ORPHA:3376
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Platyspondyly, Multiple joint dislocation, Knee dislocation, Elbow flexion contracture, Bilateral... OMIM:245600
Hurler Syndrome
Wide nasal bridge, Hypoplasia of the odontoid process, Cardiomyopathy, Hepatosplenomegaly, Endoca... OMIM:607014
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus ORPHA:397951
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Hydrocephalus, Cryptorchidism OMIM:601794
Mucopolysaccharidosis Type 1
Joint dislocation, Abnormal form of the vertebral bodies, Spinal canal stenosis, Hypertrophic car... ORPHA:579
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Congenital Myopathy 22A, Classic
Wide nasal bridge, Kyphosis, Knee contracture, Hip contracture, Thoracic scoliosis, Congenital fi... OMIM:620351
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, H... ORPHA:398124
Thanatophoric Dysplasia Type 1
Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology, Atrial septal defect, Hydr... ORPHA:1860
Crouzon Syndrome
Abnormal sacrum morphology, Hydrocephalus, Multiple suture craniosynostosis ORPHA:207
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Pancytopenia, Splenomegaly, Ventricular septal defect, Elevated circulating cre... OMIM:614576
Distal Triplication 15Q
Abnormal heart morphology, Atrial septal defect, Hydrocephalus, Craniosynostosis, Hydrocele testi... ORPHA:314588
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Ventriculomegaly, Cryptorch... OMIM:609757
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short nose OMIM:300558
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Joubert Syndrome
Abnormal form of the vertebral bodies, Situs inversus totalis, Encephalocele, Hydrocephalus, Scol... ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Dilated cardiomyopathy, Encephalocele, Elevated circulating creatine kinase conc... OMIM:253800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Short nose ORPHA:163961
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Abnormal cardiac septum morphology, Scoliosis, Prominent metopic... ORPHA:238769
Coach Syndrome 2
Elevated circulating creatinine concentration, Hydrocephalus OMIM:619111
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Vertebral wedging, Cardiac rhabdomyoma, Ovarian carcinoma, Cardiac fibroma, Ky... OMIM:109400
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Scoliosis, Hydrocephalus OMIM:617244
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Pelvis-Shoulder Dysplasia
Hydranencephaly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Lumbar hyperlord... ORPHA:2839
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Hydrocephalus, Short nose ORPHA:163966
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Atlantoaxial dislocation, Multiple joint dislocation, Congenital kyphoscoliosis, L... ORPHA:536467
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Encephalocele, Hydrocephalus, Dextrocardia, Scoliosis, Abnormality... ORPHA:220493
Primary Ciliary Dyskinesia
Ventriculomegaly, Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial... ORPHA:244
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormality of the cervical spine, Sagitta... OMIM:123500
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Hydrocephalus ORPHA:2770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Ventriculomegaly, Hypocalcemia, Hydrocephalus, Kyphosis,... OMIM:618476
Whipple Disease
Splenomegaly, Hyponatremia, Hypothyroidism, Hydrocephalus, Arthritis, Myocarditis, Anemia, Medias... ORPHA:3452
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Cryptorchidism, Hydrocephalus, Hemi... ORPHA:3412
Fg Syndrome Type 1
Small pituitary gland, Ventriculomegaly, Limited elbow extension and supination, Mitral valve pro... ORPHA:93932
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Hypertrophic cardiomyopathy, Abnormal heart morphol... ORPHA:505248
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Splenomegaly, Hypoplastic vertebral bodies... OMIM:272200
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Cardiomyopathy, ... OMIM:253200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Scoliosis, Hydrocephalus OMIM:617542
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Dextrocardia
Congenital hip dislocation, Pancreatic hypoplasia, Abnormal heart morphology, Abnormality of the ... ORPHA:1666
Axenfeld-Rieger Syndrome, Type 2
Abnormal heart morphology, Hydrocephalus, Cryptorchidism, Wide nasal bridge OMIM:601499
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Atrioventricular canal defect, Hydrocephalus, Widely patent coronal sut... ORPHA:2409
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia ORPHA:1237
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Short neck, Hydrocephalus, Scoliosis, Prominent me... ORPHA:261290
Krabbe Disease
Increased CSF protein concentration, Autoimmune thrombocytopenia, Hydrocephalus OMIM:245200
Tetrasomy 15Q26
Hydrocephalus, Atrial septal defect, Dandy-Walker malformation, Kyphoscoliosis OMIM:614846
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus, Elevated circulating creatine kinase concentration ORPHA:588
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Abnormal heart valve morphology... ORPHA:90652
Hajdu-Cheney Syndrome
Tall lumbar vertebral bodies, Genu valgum, Vertebral compression fracture, Cryptorchidism, Biconc... OMIM:102500
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Short neck, Atrial septal d... OMIM:612582
Hec Syndrome
Communicating hydrocephalus, Endocardial fibroelastosis, Vaginal hydrocele, Cardiomyopathy ORPHA:2119
Monosomy 9Q22.3
Ventriculomegaly, Abnormality of the vertebral column, Cardiac fibroma, Ovarian fibroma, Short ne... ORPHA:77301
Tetraamelia Syndrome 1
Hydrocephalus, Asplenia, Adrenal gland agenesis OMIM:273395
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland, Ventriculomegaly, Hydrocephalus, Nasofrontal encephalocele OMIM:614195
Tenorio Syndrome
Ventriculomegaly, Delayed cranial suture closure, Hydrocephalus, Hypoinsulinemia, Scoliosis OMIM:616260
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Genu valgum, Pancytopenia, Hydrocephalus, Throm... OMIM:259710
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Scoliosis... ORPHA:500055
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Bile duct proliferation, Dandy-Walker malformation OMIM:607361
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Wormian bones, Communicating hydrocephalus, Scoliosis, Kyp... ORPHA:2050
Achondroplasia
Lumbar hyperlordosis, Limited elbow extension, Narrow vertebral interpedicular distance, Severe p... OMIM:100800
Edinburgh Malformation Syndrome
Hydrocephalus, Short nose ORPHA:1895
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Genu valgum, Cryptorchidism, Cubitu... ORPHA:1340
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Short neck, Hydrocephalus, Kyp... OMIM:309900
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Absenc... ORPHA:1600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615181
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus OMIM:614120
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Ventriculomegaly, Vertebral wedging, Choroid plexus cyst, Hydrocephalus OMIM:617866
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Precociou... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Precociou... ORPHA:363958
Chromosome 17P13.1 Deletion Syndrome
Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Short neck, Hydrocephalus, Spi... OMIM:613776
Thanatophoric Dysplasia, Type I
Platyspondyly, Short neck, Severe platyspondyly, Hydrocephalus OMIM:187600
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Long nose, Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogonadism, Hip contracture, P... ORPHA:3042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Scoliosis, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:615249
Trisomy 1Q
Ventriculomegaly, Camptodactyly of finger, Cryptorchidism, Ventricular septal defect, Hydrocephalus ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Hydrocephalus, Wide nasal bridge OMIM:620157
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Short neck, Atrial septal defect, Hydrocephalus, Short nose, Le... OMIM:257300
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malform... ORPHA:1647
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Wide nasal bridge, Ventriculomegaly, Hydrocephalus, Short nose, Hydrocele testis, Sacral dimple OMIM:613603
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Joint contracture of the hand, Genu valgum, Cryptorchidism, Mitral valve prolaps... OMIM:182212
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Elbow dislocation, Abnormal form of the vertebral bodies, Camptodactyly of fing... ORPHA:2462
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Wormian bones, Scoliosis, Congenital hip dislocation OMIM:612940
Holoprosencephaly
Scoliosis, Spinal dysraphism, Abnormal form of the vertebral bodies, Tetralogy of Fallot, Panhypo... ORPHA:2162
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Tran... ORPHA:1780
Apert Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Ventriculomegaly, Synostosis of carpal bon... OMIM:101200
Hajdu-Cheney Syndrome
Aortic valve stenosis, Wide nasal bridge, Hypoplastic 5th lumbar vertebrae, Mitral stenosis, Sple... ORPHA:955
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Ventriculomegaly, Cardiomyopathy, Decreased pla... ORPHA:228308
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Cryptorchidism, Dandy-Walker malformation OMIM:310400
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytope... OMIM:259720
Aymé-Gripp Syndrome
Ventriculomegaly, Delayed cranial suture closure, Breast hypoplasia, Cryptorchidism, Radioulnar s... ORPHA:1272
Kabuki Syndrome
Precocious puberty, Ventriculomegaly, Abnormal form of the vertebral bodies, Butterfly vertebrae,... ORPHA:2322
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hydrocephalus, Short nose ORPHA:1812
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Ventriculomegaly, Short neck, Hydrocephalus OMIM:620156
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Scoliosis, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology, Elevated 8(9)-cholestenol, Cryptorchidism, Hydr... ORPHA:401973
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Marshall-Smith Syndrome
Atlantoaxial dislocation, Ventriculomegaly, Hypoplasia of the odontoid process, Bilateral cryptor... OMIM:602535
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Joubert Syndrome With Renal Defect
Hydrocephalus, Encephalocele, Scoliosis, Abnormality of the hypothalamus-pituitary axis ORPHA:220497
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Ventricular septal defect, Subvalvular aortic stenosis, Hydrocephalus, Atrial sep... OMIM:613001
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Splenomegaly, Cubitus valgus, Short neck, Atrial septal defect, Hydr... OMIM:115150
Neurooculorenal Syndrome
Ectopic posterior pituitary, Ventriculomegaly, Central hypothyroidism, Tetralogy of Fallot with p... OMIM:620305
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Th... OMIM:147791
1Q21.1 Microdeletion Syndrome
Wide nasal bridge, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, Scoliosis ORPHA:250989
Pettigrew Syndrome
Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Scoliosis, Dandy-Walker malformation OMIM:304340
Apert Syndrome
Ventriculomegaly, Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect, Hydrocephalus, ... ORPHA:87
Cousin Syndrome
Joint contracture of the hand, Hydranencephaly, Dislocation of the femoral head, Humeroradial syn... OMIM:260660
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Encephalocele, Short neck, Hydrocephalus, Advanced ossification of... OMIM:224400
Trisomy 8P
Annular pancreas, Tetralogy of Fallot, Sacral dimple, Abnormal left ventricle morphology, Cryptor... ORPHA:264450
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Pontocerebellar Hypoplasia, Type 7
Wide nasal bridge, Hydrocephalus, Ventriculomegaly, Cryptorchidism OMIM:614969
Muenke Syndrome
Coronal craniosynostosis, Tarsal synostosis, Hydrocephalus, Carpal synostosis ORPHA:53271
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Encephalocele, Adrenal hypoplasia, Abnormal cardiac septum morphology, Hydrocepha... ORPHA:2166
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Abnormal heart morphology, Hydrocephalus, Short nose, Delayed ossification of ... OMIM:239300
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Cryptorchidism, Abnormally ossified vertebrae ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 65
Wide nasal bridge, Noncommunicating hydrocephalus, Prominent metopic ridge OMIM:619320
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Knee flexion contracture, Decreased serum insulin-like growth factor 1, Atrial ... OMIM:618162
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pulmo... OMIM:612863
Desmosterolosis
Joint contracture of the hand, Total anomalous pulmonary venous return, Abnormal circulating chol... OMIM:602398
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Patellar dislocation... ORPHA:567
Tetrasomy 5P
Wide nasal bridge, Short neck, Hydrocephalus, Short nose ORPHA:3309
Gracile Bone Dysplasia
Hydrocephalus, Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Sagittal craniosynostosis, Hydrocephalus, Atrial septal defect, Dandy-Walk... ORPHA:459061
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral val... OMIM:231005
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Atrial septal defect, Hydrocephalus, Right atrial enlargement, Co... OMIM:615219
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Pterygium, Hydrocephalus, Dandy-Walker malformation OMIM:225790
Dubowitz Syndrome
Delayed cranial suture closure, Cryptorchidism, Spina bifida occulta, Anemia, Hydrocephalus, Thro... ORPHA:235
Pfeiffer Syndrome
Coronal craniosynostosis, Humeroradial synostosis, Elbow ankylosis, Hydrocephalus, Short nose OMIM:101600
Coccidioidomycosis
Increased CSF protein concentration, Abnormality of the vertebral column, Hypoglycorrhachia, Abno... ORPHA:228123
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Short nose, Pericardial effusion, Dandy-Walker malformation OMIM:617822
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Long nose, Scoliosis, Hydrocephalus, Short nose OMIM:618590
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal circulating creatine kinase concentration, Cryptorchidism, Hydrocephal... ORPHA:899
Alexander Disease
Precocious puberty, Short neck, Hypothyroidism, Hyperlordosis, Hydrocephalus, Aqueductal stenosis... ORPHA:58
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventriculomegaly, Cryptorchidism, Ventricular septal defect, Cubitus valgu... ORPHA:96121
47,Xyy Syndrome
Cryptorchidism, Increased serum testosterone level, Hydrocephalus, Increased circulating gonadotr... ORPHA:8
Hydrolethalus
Hydrocephalus, Anencephaly, Cryptorchidism ORPHA:2189
Gaucher Disease
Aortic valve calcification, Pancytopenia, Elevated circulating C-reactive protein concentration, ... ORPHA:355
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Osteochondrosis, Lymphadenop... ORPHA:499009
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Abnormal heart morphology, Lumbar hyperlordosis, Cryptorchidism, S... OMIM:305450
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Hypogonadism, Delayed puberty, ... ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalu... OMIM:613150
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Splenomegaly, Hydrocephalus, Scoliosis, Abnormality of the hypothalamus-... ORPHA:1454
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Hyperparathyroidism, Ventriculomegaly, Splenic cyst, Ovarian cyst, Wide crania... OMIM:618188
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Ventriculomegaly, Cryptorchidism, Adrenal hypoplasia, Hydrocephalus, Holoprose... OMIM:612651
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Mitral valve prolapse, Hydrocephalus, Craniosynostosis, Lateral ventricular asymmetry OMIM:616914
Osteogenesis Imperfecta
Ventriculomegaly, Cervical kyphosis, Abnormal form of the vertebral bodies, Noncommunicating hydr... ORPHA:666
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Myelomeningocele, Myeloschisis, Back pain, Hydrocephalus, Anterior sacral ... OMIM:600145
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Hydrocephalus, Lumbar hyperlordosis, Kyphosis OMIM:616482
Meckel Syndrome, Type 1
Accessory spleen, Elevated amniotic fluid alpha-fetoprotein, Ventriculomegaly, Occipital encephal... OMIM:249000
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
15Q Overgrowth Syndrome
Wide nasal bridge, Contracture of the proximal interphalangeal joint of the 2nd finger, Contractu... ORPHA:314585
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Hepatosplenomegaly, Short neck, ... ORPHA:168577
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Patent foramen ovale, Ventricular septal defect, Short neck, Hypoplastic nipples, H... OMIM:269860
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Adams-Oliver Syndrome
Tetralogy of Fallot, Leukopenia, Abnormal pulmonary valve morphology, Encephalocele, Hydrocephalu... ORPHA:974
Arachnoid Cyst
Enlarged fossa interpeduncularis, Sciatica, Encephalocele, Hydrocephalus, Abnormality of the endo... ORPHA:2356
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventri... OMIM:619895
Limb Body Wall Complex
Wide nasal bridge, Progressive congenital scoliosis, Abnormality of the vertebral column, Abnorma... ORPHA:2369
Neurofibromatosis, Type I
Pheochromocytoma, Genu valgum, Hydrocephalus, Parathyroid adenoma, Spina bifida, Aqueductal steno... OMIM:162200
Kabuki Syndrome 1
Wide nasal bridge, Congenital hip dislocation, Abnormal vertebral morphology, Scoliosis, Joint di... OMIM:147920
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Congenital hip dislocation, Hypoplastic coccygeal vertebrae, Cryptorchidism, Atrial septal defect... OMIM:619512
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Mucopolysaccharidosis Type 3
Ventriculomegaly, Abnormal form of the vertebral bodies, Genu valgum, Splenomegaly, Abnormal aort... ORPHA:581
Desmosterolosis
Ventriculomegaly, Splenomegaly, Hydrocephalus, Short nose, Anomalous pulmonary venous return ORPHA:35107
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Laurin-Sandrow Syndrome
Hydrocephalus, Tarsal synostosis, Cryptorchidism, Abnormality of the wrist ORPHA:2378
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Sacrococcygeal pilonidal abnormality, Talipes valgus, Cryptorchidism,... ORPHA:221120
Marden-Walker Syndrome
Abnormal form of the vertebral bodies, Camptodactyly of finger, Situs inversus totalis, Ventricul... ORPHA:2461
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr... ORPHA:2495
Congenital Sialidosis Type 2
Abnormal heart morphology, Hepatosplenomegaly, Hydrocephalus ORPHA:93400
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... ORPHA:157
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Thoracolumbar kyphosis, Ventr... ORPHA:2072
Myhre Syndrome
Aortic valve stenosis, Platyspondyly, Enlarged vertebral pedicles, Cryptorchidism, Ventricular se... OMIM:139210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Absent knee epiphyses, Platyspondyly, Elbow dislocation, Lateral ventricle dilatation, Tetralogy ... OMIM:210710
Osteopathia Striata With Cranial Sclerosis
Wide nasal bridge, Thoracolumbar kyphosis, Joint contracture of the hand, Ventricular septal defe... OMIM:300373
Iniencephaly
Absent vertebra, Spinal dysraphism, Myelomeningocele, Encephalocele, Hyperlordosis, Hydrocephalus... ORPHA:63259
Glutaric Acidemia I
Hydrocephalus, Elevated circulating glutaric acid concentration, Lateral ventricle dilatation OMIM:231670
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Nephronophthisis 18
Hydrocephalus OMIM:615862
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Ventriculomegaly, Hypertrophic cardiomyopathy, Te... ORPHA:84
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Abnormal heart morphology, Pancytopenia, Cryptorch... OMIM:227646
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Genu valgum, Thoracic scoliosis, Kyphoscoliosis, Cubitus valgus, No... ORPHA:300570
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Abnormal heart m... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating cre... OMIM:613154
Wolf-Hirschhorn Syndrome
Accessory spleen, Wide nasal bridge, Precocious puberty, Ventriculomegaly, Kyphosis, Abnormal for... OMIM:194190
Rhombencephalosynapsis
Ventriculomegaly, Hydrocephalus, Short nose ORPHA:59315
Fanconi Anemia, Complementation Group L
Wide nasal bridge, Bone marrow hypocellularity, Hypoplastic sacrum, Short neck, Hydrocephalus, An... OMIM:614083
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Genu valgum, Leukocytosis, Hypoplasia of the ovary, Hydrocephalus, Azo... OMIM:619321
Microphthalmia With Limb Anomalies
Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Camptodactyly of 2nd-5th fin... ORPHA:1106
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Craniosynostosis, Cryptorchidism ORPHA:1555
Peho Syndrome
Ventriculomegaly, Hydrocephalus, Short nose ORPHA:2836
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Ventricular septal defect, ... ORPHA:163979
Hemangioblastoma
Hydrocephalus ORPHA:252054
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Humeroradial synostosis, Atrial septal def... OMIM:207410
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Wide nasal bridge, Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Spleni... OMIM:620371
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Meckel Syndrome, Type 6
Occipital encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Bile duct proliferation OMIM:612284
Rabin-Pappas Syndrome
Hyponatremia, Hydrocephalus, Wide nasal bridge OMIM:620155
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus, Ventricular septal defect OMIM:219730
Campomelic Dysplasia
Cervical kyphosis, Hypoplastic cervical vertebrae, Spinal dysraphism, Patellar hypoplasia, Abnorm... OMIM:114290
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Wide nasal bridge, Precocious puberty, Hypertrophic cardiomyopathy, Hypocholeste... OMIM:270400
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane... OMIM:616084
Holoprosencephaly 9
Anterior pituitary agenesis, Alobar holoprosencephaly, Decreased response to growth hormone stimu... OMIM:610829
Mend Syndrome
Aortic valve stenosis, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Kyphosis, Sacral... OMIM:300960
Semilobar Holoprosencephaly
Central hypothyroidism, Abnormal heart morphology, Panhypopituitarism, Decreased response to grow... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Abnormal heart morphology, Panhypopituitarism, Decreased response to grow... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Abnormal heart morphology, Panhypopituitarism, Decreased response to grow... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Abnormal heart morphology, Panhypopituitarism, Decreased response to grow... ORPHA:93924
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Hydrocephalus OMIM:243440
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Cryptorchidism, Ventricular septal defect, Tricuspid valve prolapse, Hyd... ORPHA:261337
Plasminogen Deficiency, Type I
Ventriculomegaly, Decreased level of plasminogen, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Multiple Sulfatase Deficiency
Hydrocephalus, Splenomegaly ORPHA:585
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, ... ORPHA:268810
Holoprosencephaly 7
Wide nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Hyd... OMIM:610828
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:60040
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Limited elbow extension, Ventricular septal defect, Radioulnar synostosis, A... OMIM:154400
Osteootohepatoenteric Syndrome
Hypokalemia, Anemia, Hydrocephalus, Increased serum bile acid concentration OMIM:619377
Orofaciodigital Syndrome Ii
Wormian bones, Scoliosis, Hydrocephalus OMIM:252100
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Occipital meningocele, Short neck, Hydrocephalus, Atrial septal defect, Anencep... OMIM:616546
Medulloblastoma
Hydrocephalus, Back pain, Delayed cranial suture closure ORPHA:616
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ventriculomegaly, Cystathioninemia, Hypomethioninemia, Hydrocephalus, Hyperhomocystinemia ORPHA:395
Mucopolysaccharidosis Type 2
Wide nasal bridge, Hip osteoarthritis, Cardiomyopathy, Abnormal heart morphology, Abnormal heart ... ORPHA:580
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Hydrocephalus, Ventricular septal defect ORPHA:268249
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal cardiac atrium morphology,... ORPHA:2306
Oeis Complex
Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Cryptorchidism, Hydrocephalu... OMIM:258040
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Short nose ORPHA:93259
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Communicating hydrocephalus ORPHA:2268
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Cryptorchidism, Encephalocele, Hydrocephalus, Pancreati... ORPHA:564
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Thro... OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus, Elevated circulating creatine kinase concentration OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Cryptorchidism, Elevated circulating creatine kinase c... OMIM:236670
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia, Hydrocephalus ORPHA:2720
Arachnoiditis
Hydrocephalus ORPHA:137817
Fontaine Progeroid Syndrome
Platyspondyly, Coronal craniosynostosis, Absent nipple, Abnormal heart morphology, Cryptorchidism... OMIM:612289
Raine Syndrome
Short neck, Hypophosphatemia, Hydrocephalus, Short nose OMIM:259775
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Hypogonadism, Cryptorchidism, Elbow ankylosis, Hydrocephalus, Sco... ORPHA:2658
Lhermitte-Duclos Disease
Hydrocephalus, Ovarian neoplasm, Neoplasm of the thyroid gland ORPHA:65285
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus, Situs inversus totalis OMIM:244400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, Ventriculomegaly, Genu valgum, Hyperbilirubinemia, Ventricular septal defect, ... OMIM:619475
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Bilateral cryptorchidism, Biventricular hypertrophy, Pterygium, Partial atriove... OMIM:616462
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Lateral ventricle dilatation, Hyperbilirubinemia, Ventr... OMIM:619534
Joubert Syndrome 2
Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele, Metopic synostosis OMIM:608091
Simpson-Golabi-Behmel Syndrome, Type 1
Wide nasal bridge, Total anomalous pulmonary venous return, Cardiomyopathy, Polysplenia, Supernum... OMIM:312870
Orofaciodigital Syndrome I
Wide nasal bridge, Abnormal heart morphology, Myelomeningocele, Ovarian cyst, Hydrocephalus, Panc... OMIM:311200
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Talipes valgus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Short neck, Cranios... ORPHA:309282
Stromme Syndrome
Accessory spleen, Hydrocephalus, Wide nasal bridge OMIM:243605
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalu... OMIM:614643
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypocalcemia, Splenomegaly, Hypophosphatemia, Lymphadenopath... ORPHA:667
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules, Joint dislocation ORPHA:25
Microphthalmia With Linear Skin Defects Syndrome
Wide nasal bridge, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Tr... ORPHA:2556
Cerebrooculonasal Syndrome
Ventriculomegaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Craniosynostosis, Shor... OMIM:605627
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Splenomegaly, Hydrocephalus, Anemia, Hypocalcemic seizures OMIM:612301
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Cryptorchidism, Patent foramen ovale, Abnormal mitral valv... ORPHA:3310
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Increased serum estradiol, Type II diabetes mellit... ORPHA:3455
Neurofibromatosis Type 1
Precocious puberty, Chronic myelogenous leukemia, Kyphosis, Pheochromocytoma, Genu valgum, Crypto... ORPHA:636
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormal vertebral morphology, Patellar hy... OMIM:218600
Peters Plus Syndrome
Hypoplastic left heart, Ventriculomegaly, Sacral dimple, Congenital hypothyroidism, Cryptorchidis... ORPHA:709
Beare-Stevenson Cutis Gyrata Syndrome
Craniosynostosis, Ventriculomegaly, Limited elbow extension, Hydrocephalus OMIM:123790
Chromosome 1P36 Deletion Syndrome, Distal
Wide nasal bridge, Dilated cardiomyopathy, Lateral ventricle dilatation, Camptodactyly of finger,... OMIM:607872
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Genu valgum, Mitral valve prolapse, Ventr... ORPHA:363700
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Hydrocephal... OMIM:261740
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Scoliosis, Hydrocephalus, Prominent metopic ridge ORPHA:457284
Hypoplasminogenemia
Abnormality of the ovary, Decreased level of plasminogen, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Elevated circulating creati... OMIM:615287
Proteus Syndrome
Thymus hyperplasia, Kyphosis, Diabetes insipidus, Abnormal form of the vertebral bodies, Neoplasm... ORPHA:744
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Wiedemann-Rautenstrauch Syndrome
Secundum atrial septal defect, Hypertriglyceridemia, Cryptorchidism, Hypoplasia of the thymus, Sh... OMIM:264090
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Communicating hydrocephalus ORPHA:1064
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Ventricular septal defect OMIM:619575
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Cryptorchidism, Hip contracture, Wrist flexion contracture, Elbow ankylo... OMIM:208150
Cockayne Syndrome A
Ventriculomegaly, Hypogonadism, Splenomegaly, Cryptorchidism, Hip contracture, Thymic hormone dec... OMIM:216400
Otopalatodigital Syndrome, Type Ii
Platyspondyly, Congenital hip dislocation, Spondylolysis, Cryptorchidism, Kyphoscoliosis, Wormian... OMIM:304120
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Hyperlordosis, Communicating hydrocephalus, Scoliosis, Kyphosis OMIM:617011
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Colpocephaly, Overriding aorta, Atrial se... OMIM:309801
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Anencephaly OMIM:313850
Costello Syndrome
Ventriculomegaly, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, ... OMIM:218040
Histiocytoid Cardiomyopathy
Cardiomegaly, Hydrocephalus, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Spondylolisthesis, Patent foramen ovale, Mitral valve prolapse, Bi... OMIM:610168
Tuberous Sclerosis Complex
Pituitary adenoma, Pheochromocytoma, Cardiac rhabdomyoma, Subependymal nodules, Carcinoid tumor, ... ORPHA:805
Loeys-Dietz Syndrome 1
Cervical spine instability, Spondylolisthesis, Mitral valve prolapse, Bicuspid aortic valve, Atri... OMIM:609192
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Lumbar hyperlordosis, Kyphoscoliosis, Metopic synostosis, Communicating hydroce... ORPHA:457359
Coffin-Siris Syndrome 12
Ridged cranial sutures, Delayed cranial suture closure, Tetralogy of Fallot, Cryptorchidism, Pate... OMIM:619325
Peters-Plus Syndrome
Ventriculomegaly, Cryptorchidism, Limited elbow movement, Ventricular septal defect, Short neck, ... OMIM:261540
Fraser Syndrome 1
Wide nasal bridge, Abnormal heart morphology, Myelomeningocele, Encephalocele, Cryptorchidism, Hy... OMIM:219000
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Wide nasal bridge, Elbow flexion contracture, Crypto... OMIM:268300
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Wid... ORPHA:3472
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Hydrocephalus ORPHA:1546
Cockayne Syndrome B
Normal pressure hydrocephalus, Splenomegaly, Kyphosis, Cryptorchidism OMIM:133540
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Dextrocardia ORPHA:1571
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Lymphangioleiomyomatosis
Hydrocephalus, Chylopericardium, Lymphadenopathy ORPHA:538
Focal Dermal Hypoplasia
Congenital hip dislocation, Supernumerary nipple, Myelomeningocele, Cryptorchidism, Hypoplastic n... OMIM:305600
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, Hydrocephalus ORPHA:137667
Chilton-Okur-Chung Neurodevelopmental Syndrome
Cryptorchidism, Patent foramen ovale, Mild fetal ventriculomegaly, Anterior pituitary hypoplasia,... OMIM:619841
Exstrophy-Epispadias Complex
Abnormal joint morphology, Abnormal heart morphology, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Sturge-Weber Syndrome
Hydrocephalus ORPHA:3205
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Townes-Brocks Syndrome 1
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hypothyroidism, Atrial septal def... OMIM:107480
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Craniofacial Microsomia 1
Block vertebrae, Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Ventricular septal de... OMIM:164210
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus, Elevated circulating creatine kinase concentration 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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