Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal adrenal gland morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal snout morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 2.78×10-11
enlarged adrenal glands Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
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
thick ventricular wall Trabd2bem2(IMPC)Ccpcz HOM Early adult 6.44×10-05
hydrocephaly Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal cranium morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 3.81×10-12
abnormal vertebral arch morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 2.09×10-11
abnormal head morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 1.35×10-10
abnormal brain morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Trabd2bem2(IMPC)Ccpcz HOM Early adult 7.17×10-16

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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

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

X-ray

XRay Images Hind Leg and Hip

37 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Kyphosis, Adrenal hyp... OMIM:219080
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... ORPHA:404
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Familial Hyperaldosteronism Type Iii
Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism, A... ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hypergonadotropic h... OMIM:617872
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly, Abnormal vertebral morphology OMIM:618709
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Abnormal circulating renin, Ventricular hypertrophy, Adrenal hyperplasia, Hyperaldos... ORPHA:369929
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal ovarian morphology, Proximal tibial and fibular fusion, Abnormal circul... ORPHA:95699
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia, Wide nasal bridge OMIM:209970
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Thrombocytopenia, Ventriculomegaly, Congeni... ORPHA:96181
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l... ORPHA:90791
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
1Q21.1 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Tetralogy of Fallot, Hip dislocation ORPHA:250994
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Scoliosis, Ulnar deviation of the wrist, Ventriculomegaly, Cryptorchid... OMIM:618577
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, Elevated circulating pipecolic acid concentration, Elevated circulating alpha-amin... OMIM:266100
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ... ORPHA:90790
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic ... ORPHA:2183
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentrat... OMIM:201810
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima... ORPHA:189427
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Macroorchidism, Hydrocephalus, Cardiomegaly OMIM:300886
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Hyperlordosis, Kyphosis OMIM:303350
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hydrocephalus, Dandy-Walker malformation, ... OMIM:220210
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Short nose, Abnormal intervertebral disk morphology, Hydrocephalus, Hypertrophic cardiomyopathy, ... ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration OMIM:607091
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni... OMIM:613845
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, A... ORPHA:786
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Butterfly vertebrae, Genu valgum, Hydrocephalus, Scoliosis, Thoracic kyphoscolios... OMIM:613330
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Scoliosis OMIM:300884
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Kleeblattschaedel
Hydrocephalus, Craniosynostosis, Elbow ankylosis OMIM:148800
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Genu valgum, Adrenal medullary hypoplasia, Patellar subluxation OMIM:248000
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Edinburgh Malformation Syndrome
Hydrocephalus, Neonatal hyperbilirubinemia OMIM:129850
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Fried Syndrome
Hydrocephalus, Scoliosis ORPHA:85335
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Craniosynostosis, Hydrocephalus, Short neck, Wide nasal bridge ORPHA:1516
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Alobar holoprosencephaly, Hydrocephalus,... OMIM:609637
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Sc... ORPHA:2635
3C Syndrome
Atrial septal defect, Short nose, Atrioventricular canal defect, Abnormal tricuspid valve morphol... ORPHA:7
Cushing Disease
Vertebral compression fracture, Decreased eosinophil count, Increased urinary cortisol level, Leu... ORPHA:96253
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Biemond Syndrome Ii
Hydrocephalus, Abnormality of the endocrine system OMIM:210350
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Dextrocardia, Spina bifida occulta,... OMIM:613686
Temple Syndrome
Decreased response to growth hormone stimulation test, Hydrocephalus, Scoliosis, Precocious puber... ORPHA:254516
Doors Syndrome
Spina bifida occulta, Dandy-Walker malformation, Hemivertebrae, Congenital hypothyroidism, Adrena... ORPHA:79500
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hydrocephalus, CSF lymphocytic pleiocytosis, Hepatosplenomegaly, Splenomegaly, Thro... OMIM:610333
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Abnormal vertebral morphology, Abnormality of the vertebral column, Hydrocep... OMIM:276950
Congenital Toxoplasmosis
Anemia, Lymphadenopathy, Hydrocephalus, Thrombocytopenia, Cardiomegaly, Ventriculomegaly ORPHA:858
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Hydrocephalus, Metopic synostosis, Delayed cranial suture closure, Abnormal hea... OMIM:175700
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ... ORPHA:99889
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Shoulder dislocation, Scoliosis, Kyphosis ORPHA:2181
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hydrocephalus, Scoliosis, Decreased t... OMIM:616222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Vertebral segmentation defect, Ventricular se... ORPHA:1926
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Hydrocephalus, Scoliosis, Hemivertebrae, Absent nipple, Congenital hip dislocatio... OMIM:104350
Infantile Sialic Acid Storage Disease
Hydrocephalus, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Cryptorchidism ORPHA:261102
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Neuropathic arthropathy, Scoliosis, Elevated circulating creatinin... OMIM:223900
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Cranios... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Vitamin K Antagonist Embryofetopathy
Short nose, Hydrocephalus, Myelomeningocele, Punctate vertebral calcifications, Short neck ORPHA:1914
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly ORPHA:2185
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612925
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Hyp... ORPHA:79332
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Proteus-Like Syndrome
Hydrocephalus, Genu recurvatum, Communicating hydrocephalus, Splenomegaly, Abnormality of the par... ORPHA:2969
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short nose, Anterior hypopituitarism, Hydrocephalus, Hip dislocation OMIM:241800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hydrocephalus, Hemivertebrae, Ventricular septal defect, Holoprose... ORPHA:77298
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemivertebrae, Wide nasal bridge ORPHA:2180
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Thanatophoric Dysplasia
Hydrocephalus, Kyphosis, Abnormal sacroiliac joint morphology, Platyspondyly, Ventriculomegaly, A... ORPHA:2655
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Scoliosis, Increased laxity of ankles ORPHA:99947
Biemond Syndrome Type 2
Hydrocephalus, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism ORPHA:141333
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Kyphosis, Holoprosencephaly, Platyspondyly, Ventriculomegaly, Atria... ORPHA:93274
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Short nose... OMIM:616007
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentratio... OMIM:154230
2,4-Dienoyl-Coa Reductase Deficiency
Increased CSF lysine concentration, Elevated circulating 2-trans,4-cis-decadienoylcarnitine conce... OMIM:616034
Mirage Syndrome
Hyperkalemia, Anemia, Hydrocephalus, Scoliosis, Adrenal hypoplasia, Hypergonadotropic hypogonadis... OMIM:617053
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Increased blood urea ni... ORPHA:49041
Cockayne Syndrome Type 1
Male hypogonadism, Anemia, Scoliosis, Increased blood urea nitrogen, Cryptorchidism ORPHA:90321
Albers-Schönberg Osteopetrosis
Genu valgum, Anemia, Joint dislocation, Hydrocephalus, Abnormal leukocyte morphology, Hypocalcemi... ORPHA:53
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Leukemia OMIM:602501
Hereditary Renal Hypouricemia
Hypouricemia, Back pain, Increased blood urea nitrogen ORPHA:94088
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Hydrocephalus, Kyphosis, Thoracic scoliosis, Ventriculomegaly, Atrial s... OMIM:603387
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Delayed closure of the anterior fontanelle, Hydrocephalus, Hyperbilirubinemia, El... OMIM:614886
Emanuel Syndrome
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Truncus arteriosus, Ventricul... OMIM:609029
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Hydrocephalus, Radioulnar synostosis, Craniosynostosis, Cryptorchidism ORPHA:171839
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem... OMIM:274150
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Diencephalic Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Bresek Syndrome
Hydrocephalus, Scoliosis, Hemivertebrae, Decreased testicular size, Cryptorchidism ORPHA:85284
Genitopalatocardiac Syndrome
Hydrocephalus, Scoliosis, Kyphosis, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum mo... ORPHA:2075
Cole-Carpenter Syndrome 1
Vertebral compression fracture, Hydrocephalus, Scoliosis, Communicating hydrocephalus, Coronal cr... OMIM:112240
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormal vertebral morphology, Hydrocephalus, Hypergonadotropic hypogonadism, Th... OMIM:300514
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Aortic valve stenosis, Wide n... OMIM:220220
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis, Wide nasal bridge ORPHA:380
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Hemivertebrae, Ventricular septal ... OMIM:264480
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Adrenal gland agenesis OMIM:611812
Achondroplasia
Limited elbow extension, Cervical spinal canal stenosis, Hydrocephalus, Hip joint hypermobility, ... ORPHA:15
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Emanuel Syndrome
Kyphoscoliosis, Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Truncus arter... ORPHA:96170
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Pterygium, Hydrocephalus, Anisospondyly, Abnormal heart morphology, Short neck, Cr... ORPHA:1865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
6P22 Microdeletion Syndrome
Hydrocephalus, Short neck ORPHA:251046
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Vertebral segmentation defect, A... ORPHA:1834
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Bicoronal synostosis, Scoliosis, Kyphosis, Camptodactyly of finger, Secundum atria... OMIM:619951
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Platyspondyly, Acetabular dysplasia, Genu valgum, Hydroceph... OMIM:253220
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge OMIM:618302
Alexander Disease Type I
Hydrocephalus, Scoliosis ORPHA:363717
Pentalogy Of Cantrell
Anencephaly, Encephalocele, Hydrocephalus, Scoliosis, Abnormal pericardium morphology, Tetralogy ... ORPHA:1335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration, Lef... OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:613155
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hydrocephalus, Increased mean corpuscular volume, Scoliosis, Hyp... ORPHA:2169
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperinsulinemia, A... ORPHA:230
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the vertebral bodies ORPHA:93262
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Bile duct prol... OMIM:611134
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Scoliosis, Wormian bones, Ventricular septal defect, Kyphosis, Biconc... OMIM:130720
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly, Dilated cardiomyopathy, Camptodactyly of finger ORPHA:272
Functioning Gonadotropic Adenoma
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:91348
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hydrocephalus, Sandwich appearance of vertebral bodies, Hypocalcemia, Throm... OMIM:259700
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Hydrocephalus, Splenomegaly, Ventriculomegaly, Ventricular septal defect OMIM:615630
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Hurler Syndrome
Abnormal vertebral morphology, Hydrocephalus, Abnormal heart valve morphology, Scoliosis, Cardiom... ORPHA:93473
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Ventricular septal defect OMIM:218350
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly... ORPHA:1908
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Scoliosis, Congenital hip dislocation OMIM:616355
Griscelli Syndrome
Abnormal circulating lipid concentration, Lymphadenopathy, Encephalocele, Hydrocephalus, Bone mar... ORPHA:381
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Hip dislocation, Abnormality of the vertebral column OMIM:109120
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Cryptorchidism, Short neck... OMIM:612938
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:101800
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Dislocated radial head OMIM:304100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Short nose, Hydrocephalus OMIM:300863
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae, Ovaria... ORPHA:377
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Leukocytosis, Hypothyroidism, Left vent... ORPHA:90065
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism,... OMIM:306955
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Hydrocephalus, Wormian bones, Kyphosis, Coronal craniosynostosis, Wi... OMIM:616294
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal bridge OMIM:616521
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase conc... ORPHA:370959
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Transposition of the great arteries, Sacral dimple, Abnormal vertebral morphology, Atrioventricul... OMIM:314390
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Houge-Janssens Syndrome 2
Hydrocephalus, Ventriculomegaly, Scoliosis, Prominent metopic ridge OMIM:616362
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hydrocephalus, Hypoplastic nipples, Myelomeningocele, Spina b... ORPHA:2437
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short nose, Hydrocephalus, Scoliosis, Colpocephaly, Acetabular dysplasia, Ventriculomegaly OMIM:619833
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Anencephaly, Accessory spleen, Dandy-Walker malformation, Severe hydroc... OMIM:236680
Triploidy
Meningocele, Hydrocephalus, Holoprosencephaly, Short neck, Cryptorchidism, Abnormal cardiac septu... ORPHA:3376
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Multiple joint dislocation, Genu valgum, Cardiomegaly, Craniosynostosis, H... OMIM:245600
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Bicuspid aortic valve ORPHA:397951
Hurler Syndrome
Hydrocephalus, Cardiomyopathy, Kyphosis, Biconcave vertebral bodies, Short neck, Hypoplasia of th... OMIM:607014
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Cryptorchidism, Hypogonadism OMIM:601794
Mucopolysaccharidosis Type 1
Abnormal aortic valve morphology, Joint dislocation, Abnormal form of the vertebral bodies, Hydro... ORPHA:579
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Spinal rigidity, Scoliosis, Kyphosis, Congenital finger flexion co... OMIM:620351
Thanatophoric Dysplasia Type 1
Hydrocephalus, Kyphosis, Abnormal sacroiliac joint morphology, Platyspondyly, Ventriculomegaly, A... ORPHA:1860
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Pancytopenia, Hydrocephalus, Abnormal heart morphology, Thrombocytopenia... ORPHA:398124
Crouzon Syndrome
Hydrocephalus, Abnormal sacrum morphology, Multiple suture craniosynostosis ORPHA:207
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Hydrocephalus, Elevated circulating creatine kinase concentration, Thrombocytopenia... OMIM:614576
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation, Scoliosis, Kyphosis, Abnormal heart morphology, Cranios... ORPHA:314588
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Decreased response to growth hormone stimulation test, 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
Situs inversus totalis, Encephalocele, Abnormal form of the vertebral bodies, Hydrocephalus, Scol... ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Spinal rigidity, Transposition of the great arteries, Encephalocele, Hydroc... OMIM:253800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Short nose, Dandy-Walker malformation ORPHA:163961
1Q44 Microdeletion Syndrome
Hydrocephalus, Scoliosis, Prominent metopic ridge, Ventriculomegaly, Abnormal cardiac septum morp... ORPHA:238769
Coach Syndrome 2
Hydrocephalus, Elevated circulating creatinine concentration OMIM:619111
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Cardiac rhabdomyoma, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae, ... OMIM:109400
Fanconi Anemia, Complementation Group R
Hydrocephalus, Bone marrow hypocellularity, Scoliosis, Anemia OMIM:617244
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Pelvis-Shoulder Dysplasia
Prominent protruding coccyx, Hydranencephaly, Hydrocephalus, Abnormal form of the vertebral bodie... ORPHA:2839
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short nose, Hydrocephalus ORPHA:163966
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Short nose, Multiple joint dislocation, Congenital k... ORPHA:536467
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Dextrocardia, Encephalocele, Hydrocephalus, Scoliosis, Abnormality... ORPHA:220493
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Crouzon Syndrome
Lambdoidal craniosynostosis, Hydrocephalus, Abnormality of the cervical spine, Coronal craniosyno... OMIM:123500
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly, Acute leukemia ORPHA:2770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Hydrocephalus, Dandy-Walker malformation, Hypocalcemia, Kyphosis, Platy... OMIM:618476
Whipple Disease
Myocarditis, Anemia, Mediastinal lymphadenopathy, Hydrocephalus, Arthritis, Hypothyroidism, Peric... ORPHA:3452
Vacterl With Hydrocephalus
Aqueductal stenosis, Abnormal form of the vertebral bodies, Hydrocephalus, Hemivertebrae, Spina b... ORPHA:3412
Fg Syndrome Type 1
Sacral dimple, Small pituitary gland, Craniosynostosis, Hydrocephalus, Limited elbow extension an... ORPHA:93932
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Lumbar kyphosis, Anemia, Hydrocephalus, Patent foramen ovale, Thoracic kyphosis, Hype... ORPHA:505248
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Hypoplastic vertebral bodies, Splenomegaly, V... OMIM:272200
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Anterior wedging of L2, Genu valgum, Hydrocephalus, Hypoplas... OMIM:253200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Scoliosis OMIM:617542
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Dextrocardia
Situs inversus totalis, Dextrocardia, Hydrocephalus, Pancreatic hypoplasia, Congenital hip disloc... ORPHA:1666
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Cryptorchidism, Abnormal heart morphology, Wide nasal bridge OMIM:601499
Lowry-Maclean Syndrome
Short nose, Atrioventricular canal defect, Widely patent coronal suture, Hydrocephalus, Bilateral... ORPHA:2409
Beemer-Ertbruggen Syndrome
Cryptorchidism, Thrombocytopenia, Wide nasal bridge, Communicating hydrocephalus ORPHA:1237
Krabbe Disease
Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein concentration OMIM:245200
Trisomy 17P
Hydrocephalus, Scoliosis, Prominent metopic ridge, Aortic valve stenosis, Short neck, Hypoplastic... ORPHA:261290
Tetrasomy 15Q26
Kyphoscoliosis, Dandy-Walker malformation, Atrial septal defect, Hydrocephalus OMIM:614846
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Elevated circulating creatine kinase concentration, Meningocele ORPHA:588
Optic Pathway Glioma
Hydrocephalus, Precocious puberty ORPHA:2086
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Hydrocephalus, Pituitary ... ORPHA:91350
Otopalatodigital Syndrome Type 2
Short nose, Tarsal synostosis, Encephalocele, Hydrocephalus, Abnormal heart valve morphology, Sco... ORPHA:90652
Hajdu-Cheney Syndrome
Kyphoscoliosis, Genu valgum, Vertebral compression fracture, Hydrocephalus, Cervical instability,... OMIM:102500
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation, Patent foramen ovale, Tetralogy of Fallot, Short neck, ... OMIM:612582
Tenorio Syndrome
Hydrocephalus, Scoliosis, Hypoinsulinemia, Delayed cranial suture closure, Ventriculomegaly OMIM:616260
Hec Syndrome
Vaginal hydrocele, Endocardial fibroelastosis, Cardiomyopathy, Communicating hydrocephalus ORPHA:2119
Tetraamelia Syndrome 1
Hydrocephalus, Asplenia, Adrenal gland agenesis OMIM:273395
Monosomy 9Q22.3
Short nose, Abnormality of the vertebral column, Hydrocephalus, Ovarian fibroma, Metopic synostos... ORPHA:77301
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Anemia, Pancytopenia, Hydrocephalus, Hepatosplenomegaly, Thrombocytopenia, Extramedu... OMIM:259710
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Scoliosis, Dilated third ventricle, Kyphosis, Hypogonadism, Ventriculomegaly, Cryp... ORPHA:500055
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland OMIM:614195
Meckel Syndrome, Type 3
Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Bile duct proliferation OMIM:607361
Achondroplasia
Limited elbow extension, Hydrocephalus, Genu varum, Narrow vertebral interpedicular distance, Lum... OMIM:100800
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Communicating hydrocephalus, Wormian ... ORPHA:2050
Edinburgh Malformation Syndrome
Hydrocephalus, Short nose ORPHA:1895
Cardiofaciocutaneous Syndrome
Short nose, Genu valgum, Cubitus valgus, Hydrocephalus, Abnormal heart valve morphology, Scoliosi... ORPHA:1340
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Abnormal heart valve morphology, Kyphosis, Hepatosplenomegaly, Splenomegaly, Short... OMIM:309900
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Hydrocephalus, Dysplastic pulmonary valve, Absence of th... 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
Hydrocephalus, Ventriculomegaly, Anencephaly OMIM:614120
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Vertebral wedging, Hydrocephalus, Choroid plexus cyst, Platyspondyly, Ventriculomegaly OMIM:617866
Koolen-De Vries Syndrome Due To A Point Mutation
Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor... ORPHA:363958
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Ankle clonus, Hydrocephalus, Scoliosis, Elbow flexion contracture, Spina bifida, K... OMIM:613776
Thanatophoric Dysplasia, Type I
Platyspondyly, Short neck, Hydrocephalus, Severe platyspondyly OMIM:187600
Hydrocephaly-Low Insertion Umbilicus Syndrome
Long nose, Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus ORPHA:2184
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Kyphosis, Bilateral cryp... ORPHA:3042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Scoliosis, Elevated circulating creatine kinase concentration OMIM:615249
Trisomy 1Q
Hydrocephalus, Ventricular septal defect, Camptodactyly of finger, Ventriculomegaly, Cryptorchidism ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Hyponatremia, Wide nasal bridge OMIM:620157
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Short nose, Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Sh... OMIM:257300
Oculocerebrocutaneous Syndrome
Hydrocephalus, Dandy-Walker malformation, Congenital hip dislocation, Ventriculomegaly, Cryptorch... ORPHA:1647
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Sacral dimple, Hydrocephalus, Ventriculomegaly, Wide nasal bridge, Hydrocele testis OMIM:613603
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu valgum, C1-C2 vertebral abnormality, Hydrocephalus, Scoliosis, Dislocated radial head, Genu ... OMIM:182212
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Genu valgum, Craniosynostosis, Abnormal form of the vertebral b... ORPHA:2462
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Scoliosis, Wormian bones, Congenital hip dislocation OMIM:612940
Holoprosencephaly
Encephalocele, Abnormal form of the vertebral bodies, Hydrocephalus, Dandy-Walker malformation, S... ORPHA:2162
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Hemivertebrae, Communicatin... ORPHA:1780
Apert Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Craniosynostosis, Hydrocephalus, Delayed cra... OMIM:101200
Hajdu-Cheney Syndrome
Delayed puberty, Hydrocephalus, Scoliosis, Kyphosis, Biconcave vertebral bodies, Aortic valve ste... ORPHA:955
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Cardiomyopathy, Hyperlipidemia, Elevated circulating acylcarnitine concentration, ... ORPHA:228308
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism OMIM:310400
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hydrocephalus, Hypocalcemia... OMIM:259720
Aymé-Gripp Syndrome
Breast hypoplasia, Short nose, Craniosynostosis, Hydrocephalus, Scoliosis, Delayed cranial suture... ORPHA:1272
Kabuki Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemivertebr... ORPHA:2322
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Short nose, Hydrocephalus, Hypothyroidism, Ventriculomegaly, Cryptorchidism, Supernumerary nipple ORPHA:1812
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Short neck, Ventriculomegaly, Colpocephaly OMIM:620156
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Scoliosis, Encephalocele, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Mend Syndrome
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Kyphosis, Aortic valve stenosis, Abnorma... ORPHA:401973
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Marshall-Smith Syndrome
Kyphoscoliosis, Short nose, Atlantoaxial dislocation, Craniosynostosis, Hydrocephalus, Scoliosis,... OMIM:602535
Craniopharyngioma
Delayed puberty, Enlarged pituitary gland, Central diabetes insipidus, Hydrocephalus, Pituitary h... ORPHA:54595
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect, Atrial septal defect, Crypto... OMIM:613001
Joubert Syndrome With Renal Defect
Hydrocephalus, Scoliosis, Encephalocele, Abnormality of the hypothalamus-pituitary axis ORPHA:220497
Cardiofaciocutaneous Syndrome 1
Short nose, Cubitus valgus, Hydrocephalus, Scoliosis, Hypertrophic cardiomyopathy, Pulmonic steno... OMIM:115150
Neurooculorenal Syndrome
Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Decreased circula... OMIM:620305
Jacobsen Syndrome
Short nose, Annular pancreas, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Thromb... OMIM:147791
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Scoliosis, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology ORPHA:250989
Paroxysmal Nocturnal Hemoglobinuria
Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Scoliosis, Ventriculomegaly OMIM:304340
Apert Syndrome
Ovarian neoplasm, Hydrocephalus, Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, ... ORPHA:87
Cousin Syndrome
Prominent protruding coccyx, Hydranencephaly, Hydrocephalus, Dislocated radial head, Wrist flexio... OMIM:260660
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Short neck, Advanced ossification of carpal bones, Joint contractur... OMIM:224400
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Endocardial fibroelastosis, Communicating hydrocephalus OMIM:600559
Trisomy 8P
Short nose, Annular pancreas, Sacral dimple, Abnormal left ventricle morphology, Hydrocephalus, D... ORPHA:264450
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly, Cryptorchidism, Wide nasal bridge OMIM:614969
Muenke Syndrome
Hydrocephalus, Tarsal synostosis, Carpal synostosis, Coronal craniosynostosis ORPHA:53271
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Adrenal hypoplasia, Thyroid hypoplasia, Abnormality of the hypothal... ORPHA:2166
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Hydrocephalus, Delayed ossification of carpal bones, Abnormal heart morphology, Wide ... 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
Decreased serum insulin-like growth factor 1, Annular pancreas, Hydrocephalus, Ulnar deviation of... OMIM:618162
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Hydrocephalus, Dysplastic pulmonary valve, Dysplastic tricuspid valve, Mitr... OMIM:612863
Desmosterolosis
Short nose, Elevated circulating desmosterol concentration, Hydrocephalus, Abnormal circulating c... OMIM:602398
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Splenomegaly, Patellar dislocation, Tricuspid atresia, Meningoc... ORPHA:567
Tetrasomy 5P
Hydrocephalus, Short neck, Short nose, Wide nasal bridge ORPHA:3309
Gracile Bone Dysplasia
Hydrocephalus, Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Atrial septal defect, Sagittal c... ORPHA:459061
Gaucher Disease, Type Iiic
Pancytopenia, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic va... OMIM:231005
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg... OMIM:615219
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Pterygium, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Ventriculomegaly OMIM:225790
Dubowitz Syndrome
Sacral dimple, Hypoparathyroidism, Anemia, Spina bifida occulta, Hydrocephalus, Scoliosis, Delaye... ORPHA:235
Pfeiffer Syndrome
Short nose, Hydrocephalus, Humeroradial synostosis, Coronal craniosynostosis, Elbow ankylosis OMIM:101600
Coccidioidomycosis
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the vertebral column, Hydrocephalus,... ORPHA:228123
Alkuraya-Kucinskas Syndrome
Short nose, Hydrocephalus, Dandy-Walker malformation, Pericardial effusion, Ventriculomegaly OMIM:617822
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Long nose, Scoliosis, Short nose OMIM:618590
47,Xyy Syndrome
Increased serum testosterone level, Hydrocephalus, Increased circulating gonadotropin level, Cryp... ORPHA:8
Walker-Warburg Syndrome
Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Ventriculomegaly, Abnormal circulating ... ORPHA:899
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Scoliosis, Hyperlordosis, Kyphosis, Hypothyroidism, Precociou... ORPHA:58
7Q11.23 Microduplication Syndrome
Atrial septal defect, Sacral dimple, Cubitus valgus, Craniosynostosis, Hydrocephalus, Hemivertebr... ORPHA:96121
Hydrolethalus
Hydrocephalus, Cryptorchidism, Anencephaly ORPHA:2189
Gaucher Disease
Delayed puberty, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Ventriculomeg... ORPHA:355
Congenital Syphilis
Myocarditis, Osteochondrosis, Anemia, Lymphadenopathy, Hydrocephalus, CSF pleocytosis, Synovitis,... ORPHA:499009
H Syndrome
Delayed puberty, Hypertriglyceridemia, Lymphadenopathy, Hydrocephalus, Decreased testicular size,... ORPHA:168569
Opitz-Kaveggia Syndrome
Sacral dimple, Hydrocephalus, Abnormal heart morphology, Short neck, Cryptorchidism, Delayed clos... OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Encephalocele, Hydrocephalus, Scoliosis, Elevated circulating creatine kinase co... OMIM:613150
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Scoliosis, Abnormality of the hypothalamus-pituitary axis... ORPHA:1454
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Communicating hydrocephalus, Ovarian cyst, Wide cranial sutures, Ventriculomegaly, ... OMIM:618188
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Adrenal hypoplasia, Holoprosencephaly, Ventriculomegaly, Cryptorchidism, Wide nasa... OMIM:612651
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology ORPHA:31
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Lateral ventricular asymmetry, Kyphosis, Mitral valve prolapse, Craniosynostosis OMIM:616914
Osteogenesis Imperfecta
Abnormal endocardium morphology, Genu valgum, Vertebral compression fracture, Abnormal form of th... ORPHA:666
Sacral Defect With Anterior Meningocele
Myeloschisis, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Myelom... OMIM:600145
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Hydrocephalus, Lumbar hyperlordosis, Kyphosis OMIM:616482
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Accessory spleen, Hydrocephalus, Dandy-Walker malformation,... OMIM:249000
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Joubert Syndrome 14
Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:614424
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation, Scoliosis, Abnormal coccyx morphology, Contracture of t... ORPHA:314585
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Communicating hydrocephalus, Hepatosplenomegaly, Conjugated hyperbi... ORPHA:168577
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Patent foramen ovale, Hypoplastic nipples, Holoprosencephaly, Splenom... OMIM:269860
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Thrombocytopenia, Leukopenia, Tetralogy of Fallot, Abnormal pulmona... ORPHA:974
Arachnoid Cyst
Encephalocele, Abnormality of the endocrine system, Hydrocephalus, Sciatica, Back pain, Enlarged ... ORPHA:2356
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma... OMIM:619895
Limb Body Wall Complex
Ectopia cordis, Anencephaly, Spina bifida occulta, Abnormality of the vertebral column, Encephalo... ORPHA:2369
Neurofibromatosis, Type I
Aqueductal stenosis, Genu valgum, Hydrocephalus, Pheochromocytoma, Scoliosis, Spina bifida, Parat... OMIM:162200
Kabuki Syndrome 1
Atrial septal defect, Abnormal vertebral morphology, Joint dislocation, Hydrocephalus, Scoliosis,... 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
Aqueductal stenosis, Hypoplastic coccygeal vertebrae, Hydrocephalus, Dislocated radial head, Cong... OMIM:619512
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Desmosterolosis
Short nose, Hydrocephalus, Splenomegaly, Ventriculomegaly, Anomalous pulmonary venous return ORPHA:35107
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Genu valgum, Abnormal form of the vertebral bodies, Hydrocephal... ORPHA:581
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Laurin-Sandrow Syndrome
Hydrocephalus, Tarsal synostosis, Abnormality of the wrist, Cryptorchidism ORPHA:2378
Pseudoaminopterin Syndrome
Talipes valgus, Limited elbow movement, Hip subluxation, Hydrocephalus, Patent foramen ovale, Syn... ORPHA:221120
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Abnormal form of t... ORPHA:2461
Congenital Sialidosis Type 2
Hydrocephalus, Abnormal heart morphology, Hepatosplenomegaly ORPHA:93400
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Hyperlipidemia, Cardiomyopathy, Elevated circulating creatine kinase concentration... ORPHA:157
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Bacterial endocarditis, Sco... ORPHA:2072
Myhre Syndrome
Enlarged vertebral pedicles, Ventricular septal defect, Aortic valve stenosis, Pericardial effusi... OMIM:139210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Hydrocephalus, Hyperbilirubinemia, Patent foramen ovale, Elbo... OMIM:210710
Osteopathia Striata With Cranial Sclerosis
Spina bifida occulta, Delayed closure of the anterior fontanelle, Hydrocephalus, Scoliosis, Thora... OMIM:300373
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Hyperlordosis, Myelomeningo... ORPHA:63259
Glutaric Acidemia I
Hydrocephalus, Elevated circulating glutaric acid concentration, Lateral ventricle dilatation OMIM:231670
Nephronophthisis 18
Hydrocephalus OMIM:615862
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Fanconi Anemia
Abnormal aortic valve morphology, Anemia, Hydrocephalus, Scoliosis, Abnormal testis morphology, H... ORPHA:84
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Kyphoscoliosis, Normal pressure hydrocephalus, Genu valgum, Cubitus valgus, Lateral ventricle dil... ORPHA:300570
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Hydrocephalus, Reticulocytopenia, Hypergonadotropic hypog... OMIM:227646
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hyperhomocystinemia, Hydrocephalus, Megaloblastic anemia, Elevated circul... ORPHA:79282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Elevated circulating creatine ... OMIM:613154
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Hydrocephalus, Accessory spleen, Scoliosis,... OMIM:194190
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly, Short nose ORPHA:59315
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Anemia, Hydrocephalus, Bone marrow hypocellularity, Short neck, Wide nasal br... OMIM:614083
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short nose, Genu valgum, Azotemia, Hydrocephalus, Hypoplasia of the ovary, Leukocytosis, Decrease... OMIM:619321
Microphthalmia With Limb Anomalies
Tarsal synostosis, Camptodactyly of 2nd-5th fingers, Abnormal form of the vertebral bodies, Hydro... ORPHA:1106
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Craniosynostosis, Cryptorchidism ORPHA:1555
Peho Syndrome
Hydrocephalus, Ventriculomegaly, 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
Anemia, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia, Ventricular septal defect, Thrombocytope... ORPHA:163979
Hemangioblastoma
Hydrocephalus ORPHA:252054
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Hydrocephalus, Humeroradial synostosis, Coronal craniosynostosis, At... OMIM:207410
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hydrocephalus, Splenic cyst, Patent foramen ovale, Dilated third ventricle, Colp... OMIM:620371
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Bile duct proliferation, Absent gallbladder OMIM:612284
Rabin-Pappas Syndrome
Hydrocephalus, Hyponatremia, Wide nasal bridge OMIM:620155
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Ventricular septal defect OMIM:219730
Campomelic Dysplasia
Kyphoscoliosis, Poorly ossified cervical vertebrae, Patellar hypoplasia, Hydrocephalus, Dislocate... OMIM:114290
Smith-Lemli-Opitz Syndrome
Hip subluxation, Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Ventricular septal defe... OMIM:270400
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Communicating hydrocephalus, Si... OMIM:616084
Mend Syndrome
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Kyphosis, Aortic valve stenosis, Cryptor... OMIM:300960
Holoprosencephaly 9
Short nose, Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, A... OMIM:610829
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end... ORPHA:93924
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Sacral dimple, Hydrocephalus, Scoliosis, Cryptorchidism, Camptodactyly ... ORPHA:261337
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Decreased level of plasminogen OMIM:217090
Multiple Sulfatase Deficiency
Hydrocephalus, Splenomegaly ORPHA:585
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Thor... ORPHA:268810
Holoprosencephaly 7
Semilobar holoprosencephaly, Short nose, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitar... OMIM:610828
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:60040
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Aqueductal stenosis, Hydrocephalus, Scoliosis, Ventricular septal defect... OMIM:154400
Osteootohepatoenteric Syndrome
Hydrocephalus, Anemia, Increased serum bile acid concentration, Hypokalemia OMIM:619377
Orofaciodigital Syndrome Ii
Hydrocephalus, Scoliosis, Wormian bones OMIM:252100
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Anencephaly, Hydrocephalus, Occipital meningocele, Short neck, Ventriculome... OMIM:616546
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hyperhomocystinemia, Hydrocephalus, Cystathioninemia, Hypomethioninemia, Ventriculomegaly ORPHA:395
Medulloblastoma
Hydrocephalus, Back pain, Delayed cranial suture closure ORPHA:616
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Hip osteoarthritis, Abnormal heart valve morphology, Cardiom... ORPHA:580
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Bifid thoracic vertebrae, Ventricular septal defect ORPHA:268249
Isotretinoin-Like Syndrome
Hydrocephalus, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Bicuspid aortic valv... ORPHA:2306
Oeis Complex
Hydrocephalus, Hemivertebrae, Myelomeningocele, Congenital hip dislocation, Sacral segmentation d... OMIM:258040
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis, Short nose ORPHA:93259
Meckel Syndrome
Situs inversus totalis, Anencephaly, Encephalocele, Accessory spleen, Hydrocephalus, Dandy-Walker... ORPHA:564
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia, Communicating hydrocephalus ORPHA:2268
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hyperhomocystinemia, Hydrocephalus, Megaloblastic anemia, Cystathioninemi... OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly, Elevated circulating creatine kinase concentration OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Elevated... OMIM:236670
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Arachnoiditis
Hydrocephalus ORPHA:137817
Fontaine Progeroid Syndrome
Bicuspid aortic valve, Short nose, Hydrocephalus, Scoliosis, Hypoplastic nipples, Absent nipple, ... OMIM:612289
Raine Syndrome
Hydrocephalus, Short neck, Short nose, Hypophosphatemia OMIM:259775
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Scoliosis, Delayed cranial suture closure, Kyphosis, Elbow ankylosis, Hypogonadism... ORPHA:2658
Lhermitte-Duclos Disease
Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Asplenia, Communicating hydrocephalus OMIM:244400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Short nose, Genu valgum, Hydrocephalus, Hyperbilirubinemia, Scoliosis, Kyphosis,... OMIM:619475
Acrofacial Dysostosis, Cincinnati Type
Aqueductal stenosis, Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Short nose, ... OMIM:616462
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Splenomegaly, Lateral ventricle dilatation, Elevated circulating... OMIM:619534
Joubert Syndrome 2
Hydrocephalus, Metopic synostosis, Enlarged fossa interpeduncularis, Encephalocele OMIM:608091
Simpson-Golabi-Behmel Syndrome, Type 1
Short nose, Transposition of the great arteries, Hydrocephalus, Scoliosis, Vertebral segmentation... OMIM:312870
Orofaciodigital Syndrome I
Hydrocephalus, Myelomeningocele, Abnormal heart morphology, Ovarian cyst, Pancreatic cysts, Wide ... OMIM:311200
Stromme Syndrome
Hydrocephalus, Wide nasal bridge, Accessory spleen OMIM:243605
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Genu valgum, Craniosynostosis, Pancytopenia, Communicating hydrocephalus, Hepatos... ORPHA:309282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase con... OMIM:614643
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Sacral dimple, Hydrocephalus, Abnormal testis morphology, Hypertrophic ... ORPHA:2556
Autosomal Recessive Malignant Osteopetrosis
Anemia, Lymphadenopathy, Hydrocephalus, Hypocalcemia, Splenomegaly, Hypophosphatemia, Craniosynos... ORPHA:667
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Ventriculomegaly, Joint dislocation, Communicating hydrocephalus ORPHA:25
Cerebrooculonasal Syndrome
Short nose, Encephalocele, Craniosynostosis, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Anemia, Hydrocephalus, Splenomegaly, Lateral ventricle dilatation OMIM:612301
Tetrasomy 9P
Sacral dimple, Dextrocardia, Joint dislocation, Hydrocephalus, Dandy-Walker malformation, Patent ... ORPHA:3310
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Hypertriglyceridemia, Atlantoaxial abnormality, Pulmonic stenosis, Congenital mal... ORPHA:3455
Neurofibromatosis Type 1
Delayed puberty, Genu valgum, Abnormality of the endocrine system, Hydrocephalus, Pheochromocytom... ORPHA:636
Baller-Gerold Syndrome
Limited elbow movement, Abnormal vertebral morphology, Lambdoidal craniosynostosis, Patellar hypo... OMIM:218600
Peters Plus Syndrome
Short nose, Sacral dimple, Spina bifida occulta, Anterior hypopituitarism, Hydrocephalus, Bicuspi... ORPHA:709
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Ventriculomegaly, Limited elbow extension, Craniosynostosis OMIM:123790
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Delayed closure of the anterior fontanelle, Hydrocephalus, Noncompaction ca... OMIM:607872
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Genu valgum, Hydrocephalus, Scoliosis, Hyperlordosis, Patent foramen ovale, Hyper... ORPHA:363700
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, B... OMIM:261740
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome