Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
EF-hand calcium binding domain 1
Synonyms:
4930449A16Rik,  5430404L10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Efcab1 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 Efcab1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... OMIM:614874
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Reduced sperm motility, Situs inversus totalis, W... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, ... OMIM:615500
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:612649
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Bronchiectasis, Immotile sperm, Recurrent sinusiti... OMIM:617091
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, ... OMIM:614935
Ciliary Dyskinesia, Primary, 13
Infertility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms... OMIM:613193
Ciliary Dyskinesia, Primary, 15
Infertility, Recurrent pneumonia, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyski... OMIM:613808
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Absent ou... OMIM:615067
Ciliary Dyskinesia, Primary, 25
Infertility, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyski... OMIM:615482
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent out... OMIM:614017
Ciliary Dyskinesia, Primary, 22
Infertility, Situs inversus totalis, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, ... OMIM:615444
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... OMIM:612444
Ciliary Dyskinesia, Primary, 32
Infertility, Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia OMIM:616481
Ciliary Dyskinesia, Primary, 2
Infertility, Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Ab... OMIM:606763
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Male infert... OMIM:618801
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Absent outer dynein arms, Resp... OMIM:616037
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Absent respiratory ciliary axoneme ra... OMIM:242670
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis, Abnormal... OMIM:612650
Ciliary Dyskinesia, Primary, 29
Infertility, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide OMIM:615872
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Pneumonia, Sinusitis, Immotile cilia,... OMIM:244400
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... OMIM:614679
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Chronic sinusitis, Abnormal resp... OMIM:612518
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusi... OMIM:615505
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus c... OMIM:604213
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Sinusitis, Chronic rhinitis, I... OMIM:242680
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Ciliary Dyskinesia, Primary, 24
Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Band Heterotopia
Agenesis of corpus callosum, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortic... OMIM:600348
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:215520
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica... OMIM:618709
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, Recurrent pneumonia OMIM:616726
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis, Respiratory insuffi... OMIM:615504
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis, Respiratory insuffi... OMIM:608647
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Congenital Hydrocephalus
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Small cerebral cortex, Abnormal corti... ORPHA:2185
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Atrial situs ambiguous, Female infertility, Abnormal sperm motility, Do... ORPHA:244
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Respiratory insufficiency, Hepa... OMIM:610333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, R... OMIM:613153
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Ciliary Dyskinesia, Primary, 41
Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Immotile sperm, Recurrent sinu... OMIM:618449
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Pachygyria, Colpocephaly OMIM:614870
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:614830
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:613154
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Mitral valve prolapse, Azoospermia, Hydrocephalus ORPHA:2183
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Ethanolaminosis
Cardiomegaly OMIM:227150
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Abnormal sperm head morphology, Abn... ORPHA:320391
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus ORPHA:141333
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Polymicrogyria, Abnormal cardiac septum morphology, Hy... ORPHA:83473
Kleeblattschaedel
Hydrocephalus OMIM:148800
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Pettigrew Syndrome
Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-... OMIM:304340
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Congenital Toxoplasmosis
Ventriculomegaly, Hepatomegaly, Cerebral calcification, Cardiomegaly, Microcephaly, Hydrocephalus ORPHA:858
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventricular septal defect, Ventriculomegaly, Megalencephaly, Polymicrogy... OMIM:602501
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility, Splenomegaly OMIM:602271
Achondroplasia
Upper airway obstruction, Megalencephaly, Hydrocephalus OMIM:100800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:324416
Fried Syndrome
Hydrocephalus, Cerebral calcification ORPHA:85335
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:1516
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified g... OMIM:619302
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal heart morphology, Respiratory insufficiency, Aqueductal stenosis, Respirator... OMIM:276950
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Respiratory insufficiency due to muscle weakness, Dilation of ... OMIM:616816
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Functioning Gonadotropic Adenoma
Infertility, Abnormality of the menstrual cycle, Increased circulating gonadotropin level, Panhyp... ORPHA:91348
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Ventricular septal defect, In... ORPHA:79243
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Bicuspid aortic valve, Secondary microcephal... ORPHA:397951
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Hol... ORPHA:1908
Chiari Malformation Type Ii
Spina bifida, Agenesis of corpus callosum, Gray matter heterotopia, Inspiratory stridor, Myelomen... OMIM:207950
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Umbilical hernia ORPHA:380
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Abnormal heart morphology, Ventriculomegaly, Umbilical hernia, Agenesis of corpus ... OMIM:175700
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Gray matter heterotopia, Ventriculomegaly, An... OMIM:615287
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus OMIM:269920
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Dilated cardi... ORPHA:272
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Apneic episodes in infancy, Hydrocephalus, Dandy-Walker mal... ORPHA:163961
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Abdominal situs inversus, Productive cough, Neonatal respiratory distress, Chroni... OMIM:618699
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Thanatophoric Dysplasia Type 2
Atrial septal defect, Holoprosencephaly, Ventriculomegaly, Respiratory insufficiency, Abnormality... ORPHA:93274
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Thanatophoric Dysplasia
Atrial septal defect, Gray matter heterotopia, Ventriculomegaly, Respiratory insufficiency, Hydro... ORPHA:2655
Arnold-Chiari Malformation Type Ii
Apnea, Agenesis of corpus callosum, Inspiratory stridor, Ventriculomegaly, Pneumonia, Aqueductal ... ORPHA:1136
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Aortic valve stenosis, Hy... OMIM:220220
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Dand... OMIM:225790
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebr... OMIM:600721
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Ventricular septal defect, Hypoplasia of the corpus callosum, M... OMIM:603387
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Exertional dyspnea, Parti... ORPHA:1330
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Isomerism, Atrioventricular canal defect, Hydrocephalus, Transposition of the gr... OMIM:314390
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus, Respiratory insufficiency, Gray matter heterotopia OMIM:187600
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal aortic valve morphology, Pulmonic stenosis, Abnormal ... OMIM:615280
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma, Hydrocephalus, Abnormal heart morphology OMIM:241800
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Gray matt... ORPHA:370959
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Cerebral atrophy, Hydrocephalus, Umbilical hernia ORPHA:171839
Joubert Syndrome
Apnea, Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Episodic tachypnea, Abn... ORPHA:475
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, Communicating ... OMIM:615219
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Spinal dysraphism, Microcep... ORPHA:1926
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Umbilical hernia, Lissencephaly, Microcephaly, Hydrocephalus, Dandy-Wa... OMIM:612938
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Umbilical hernia ORPHA:2181
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Pleural effusion, Impotence, Hepatomegaly, Testicular atrophy, Cardiomeg... OMIM:235200
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Edinburgh Malformation Syndrome
Hydrocephalus, Respiratory insufficiency, Abnormality of neuronal migration ORPHA:1895
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Respiratory insufficiency ORPHA:1914
Mental Retardation, Buenos Aires Type
Microcephaly, Atrial septal defect, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:249630
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomegaly, Ag... OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Polymicrogyria, Type II lissencephaly, Hydrocephalus OMIM:615181
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Reduced vital capacity, Cardiomegaly, Respiratory insufficiency OMIM:618654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Respiratory insufficiency due to muscle weakn... OMIM:615249
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus, Cerebral calcification ORPHA:2770
Coach Syndrome 2
Apneic episodes in infancy, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventri... OMIM:618619
Glutamine Deficiency, Congenital
Apnea, Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, Neonatal respirator... OMIM:610015
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Hydrocephalus OMIM:601794
Emanuel Syndrome
Infertility, Atrial septal defect, Truncus arteriosus, Agenesis of corpus callosum, Ventricular s... ORPHA:96170
47,Xyy Syndrome
Increased circulating gonadotropin level, Azoospermia, Oligospermia, Asthma, Male infertility, Hy... ORPHA:8
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Increased CSF lactate, Ventriculomegaly, Cardiomegaly, Pulmonary arteria... OMIM:619051
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
3C Syndrome
Atrial septal defect, Abnormal tricuspid valve morphology, Ventricular septal defect, Abnormal mi... ORPHA:7
Temple Syndrome
Hydrocephalus OMIM:616222
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Abnormal periventricular white matter morphology, Periventricular he... OMIM:618476
Renpenning Syndrome
Microcephaly, Heterotaxy ORPHA:3242
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Intracerebral periventricular calcific... ORPHA:228308
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Primary amenorrhea, Secondary amenorrhea, Dysgyria, Mi... ORPHA:135
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus OMIM:245200
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy ORPHA:2701
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Meningocele, Hepatomegaly, Abnormal... ORPHA:3376
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Ventriculomeg... OMIM:614576
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Ventriculomegaly, Hepatomegaly, Splenomegaly, Hydrocephalus OMIM:615630
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Pachygyria, Type II lissencephaly, Myocardial fibrosis, Agenesis of corpus ... OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Respiratory failure, Agyria,... OMIM:616538
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:616362
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Pontocerebellar Hypoplasia, Type 13
Sleep apnea, Pleural effusion, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Asthma... OMIM:618606
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Hydrocephalus, Splenomegaly ORPHA:163596
Mulibrey Nanism
Myocardial fibrosis, Ventriculomegaly, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Respiratory distress, Enlarged kidney, Ventriculomegaly, Respiratory ... OMIM:608836
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Abnormality ... ORPHA:899
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Respiratory insufficiency ORPHA:93262
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Cerebral atrophy, Hepatomegaly, Respiratory failure, Splenomegaly, Microcephaly, Hydr... OMIM:259720
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Primary microcephaly, Simpli... ORPHA:284417
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Endocardial fibroelastosis, Communicating hydrocephalus OMIM:600559
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Aspiration, Ventriculomegaly, Umbilical... OMIM:618651
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Umbilical hernia, Hepatomegaly, Tracheobronchomalacia, Asthma, S... OMIM:309900
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Decreased pulmonary function, Umbilical hernia, Hepatomegaly, Sp... OMIM:253220
Gorlin Syndrome
Hypogonadotropic hypogonadism, Hydrocephalus, Cerebral calcification ORPHA:377
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia OMIM:219730
16P13.2 Microdeletion Syndrome
Sleep apnea, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, ... ORPHA:500055
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Hypoplasia of the corpus callosum, Megalencephaly, Central apnea, Pulmonary arterial... OMIM:616482
Attrv30M Amyloidosis
Cardiomegaly, Impotence, Cardiomyopathy ORPHA:85447
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Severe X-Linked Intellectual Disability, Gustavson Type
Ventricular septal defect, Dilated fourth ventricle, Apneic episodes in infancy, Microcephaly, Da... ORPHA:3078
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect OMIM:147800
Whipple Disease
Pericarditis, Erectile dysfunction, Cough, Respiratory insufficiency, Hepatomegaly, Splenomegaly,... ORPHA:3452
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Ve... OMIM:614643
Hec Syndrome
Endocardial fibroelastosis, Communicating hydrocephalus, Cardiomyopathy, Respiratory insufficiency ORPHA:2119
Temple Syndrome
Hydrocephalus, Decreased response to growth hormone stimuation test ORPHA:254516
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hepatomegaly, Neonata... ORPHA:157
Crouzon Disease
Hydrocephalus, Respiratory insufficiency ORPHA:207
Thanatophoric Dysplasia Type 1
Atrial septal defect, Gray matter heterotopia, Ventriculomegaly, Respiratory insufficiency, Hydro... ORPHA:1860
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus ORPHA:398189
Bresek Syndrome
Microcephaly, Neonatal death, Hydrocephalus ORPHA:85284
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Hepatomegal... OMIM:272200
Fanconi Anemia, Complementation Group I
Atrial septal defect, Agenesis of corpus callosum, Absent septum pellucidum, Ventricular septal d... OMIM:609053
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Neonatal Lupus Erythematosus
Abnormal heart morphology, Abnormal cerebral white matter morphology, Hepatomegaly, Basal ganglia... ORPHA:398124
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Microcephaly, Abnormal cardiac septum morphology, Agenesis of co... ORPHA:238769
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Agenesis of corpus callosum, Absent septum pelluci... ORPHA:35107
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal heart morphology, Hypoplasia of the corpus callosum, Abno... ORPHA:356961
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Ventriculomegaly, Pericardial... OMIM:617822
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Apnea, Tachypnea, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral... ORPHA:397715
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Sleep apnea, Agenesis of corpus callosum, Aortic valve stenosis, Hydrocepha... ORPHA:459061
Czeizel-Losonci Syndrome
Spina bifida, Dextrocardia, Spina bifida occulta, Myelomeningocele, Hydrocephalus ORPHA:2437
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Umbilical hernia, Abnormal heart morphology OMIM:601499
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Hypergonadotropic hypogonadism, Hypoplasia of the corpus callosum, Ven... OMIM:300514
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Joubert Syndrome With Ocular Defect
Apnea, Agenesis of corpus callosum, Dextrocardia, Polymicrogyria, Abnormal pattern of respiration... ORPHA:220493
Beck-Fahrner Syndrome
Extra-axial cerebrospinal fluid accumulation, Ventricular septal defect, Ventriculomegaly, Perive... OMIM:618798
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, ... OMIM:264480
Congenital Sialidosis Type 2
Abnormal heart morphology, Umbilical hernia, Hepatomegaly, Hepatosplenomegaly, Hydrocephalus ORPHA:93400
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Porencephalic cyst, Agenesis of corpus callosum, Ventricular septal defect,... OMIM:613001
Dextrocardia
Situs inversus totalis, Hydrocephalus, Abnormal heart morphology, Dextrocardia, Abnormality of ab... ORPHA:1666
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Dandy... ORPHA:1647
Nephronophthisis 18
Hydrocephalus OMIM:615862
Joubert Syndrome With Oculorenal Defect
Apnea, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Tachypnea, H... ORPHA:2318
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Umbilical hernia, Pulmonic stenosis, Patent foramen ovale, Dil... OMIM:618914
Hsd10 Disease, Infantile Type
Increased CSF lactate, Cerebral atrophy, Frontotemporal cerebral atrophy, Abnormality of the basa... ORPHA:391428
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Polymicrogyria, Abnormal pattern of respiration, Agenesis of corpus callosum ORPHA:220497
Pycnodysostosis
Hepatomegaly, Abnormal pattern of respiration, Hydrocephalus, Splenomegaly ORPHA:763
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Cerebral atrophy, Double outlet right ventricle, Microcephaly, Hydrocephalus OMIM:614886
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect, Chor... OMIM:309801
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus ORPHA:60040
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Hypopituitarism, Hyperglycorrhachia, Left ventricular hypertrophy, Hydroce... ORPHA:90065
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus, Dandy-Walk... OMIM:220219
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Chromosome 6Pter-P24 Deletion Syndrome
Atrial septal defect, Agenesis of corpus callosum, Ventricular septal defect, Umbilical hernia, P... OMIM:612582
Tenorio Syndrome
Apnea, Cavum septum pellucidum, Ventriculomegaly, Pneumonia, Cerebral cortical atrophy, Hydroceph... OMIM:616260
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Decreased response to growth ... OMIM:609757
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Fg Syndrome Type 1
Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Small pituitar... ORPHA:93932
Mucopolysaccharidosis, Type Vi
Abnormal heart valve morphology, Umbilical hernia, Hepatomegaly, Splenomegaly, Hydrocephalus, Car... OMIM:253200
Hurler Syndrome
Endocardial fibroelastosis, Umbilical hernia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hyd... OMIM:607014
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Respiratory insufficiency, Microcephaly, Spontaneous abortion, Hydroce... ORPHA:1865
H Syndrome
Azoospermia, Bronchiectasis, Enlarged kidney, Amenorrhea, Chronic rhinitis, Hypogonadism, Hepatos... ORPHA:168569
Amyloidosis, Hereditary, Transthyretin-Related
Increased CSF protein, Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:565624
Cantu Syndrome
Pericardial effusion, Umbilical hernia, Congenital hypertrophy of left ventricle, Cardiomegaly, B... OMIM:239850
Joubert Syndrome 2
Hydrocephalus, Episodic tachypnea, Enlarged fossa interpeduncularis, Central apnea, Abnormal corp... OMIM:608091
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Pleural effusion, Ventriculomegaly, Cardiomegaly, Microcephaly, Hypert... OMIM:616897
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Agenesis of corpus callosum ORPHA:2189
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Periventricular leukomalacia, Microcephaly, Cardiomegaly OMIM:619170
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Cardiomegaly, Recurrent pneumonia ORPHA:3137
Craniopharyngioma
Sleep apnea, Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism... ORPHA:54595
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation OMIM:614424
Griscelli Syndrome
Hepatomegaly, Hydrocephalus, Splenomegaly ORPHA:381
Hemangioblastoma
Hydrocephalus ORPHA:252054
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Periventricular heterotopia, Hypoplasia of the corpus callosum, Ventri... ORPHA:261250
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Trisomy 1Q
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect ORPHA:261344
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus ORPHA:2184
Methylcobalamin Deficiency Type Cble
Microcephaly, Ventriculomegaly, Hydrocephalus, Abnormal cerebral white matter morphology ORPHA:2169
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot OMIM:601005
Meckel Syndrome, Type 3
Hepatomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect ORPHA:77298
Adams-Oliver Syndrome
Porencephalic cyst, Abnormal pulmonary valve morphology, Periventricular leukomalacia, Pulmonary ... ORPHA:974
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Abnormal caudate nucleus morphology, Pallidal degeneration, Ventriculomegaly, Abn... ORPHA:25
Peho Syndrome
Porencephalic cyst, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Hydrocephalus ORPHA:2836
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Porencephalic cyst, Agenesis of corpus callosum, Abnormal heart morpholog... OMIM:311200
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Achondroplasia
Restrictive ventilatory defect, Central sleep apnea, Hypoxemia, Obstructive sleep apnea, Hydrocep... ORPHA:15
Cerebral Visual Impairment
Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Focal cortical dysplasia... ORPHA:447788
Iniencephaly
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Dandy-Walker malformation, Myelo... ORPHA:63259
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Familial Atrial Myxoma
Exertional dyspnea, Cardiac myxoma, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Dyspnea, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular s... OMIM:115197
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Muenke Syndrome
Hydrocephalus ORPHA:53271
Lowry-Maclean Syndrome
Atrioventricular canal defect, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydroceph... ORPHA:2409
Arachnoiditis
Hydrocephalus ORPHA:137817
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal cerebral whit... ORPHA:395
Pelvis-Shoulder Dysplasia
Spina bifida, Hydranencephaly, Hydrocephalus ORPHA:2839
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Ventricular sep... ORPHA:2162
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse, Hydrocephalus, Umbilical hernia OMIM:104350
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Abnormal heart morpholo... ORPHA:457279
Mucopolysaccharidosis Type 1
Apnea, Abnormal heart valve morphology, Cough, Abnormal aortic valve morphology, Sinusitis, Splen... ORPHA:579
Rhombencephalosynapsis
Septo-optic dysplasia, Ventriculomegaly, Fusion of the left and right thalami, Hydrocephalus ORPHA:59315
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Genitopalatocardiac Syndrome
Microcephaly, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:2075
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Dilation of... ORPHA:572798
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hepatomegaly, Testicular atrophy, Cardiomegaly, Sp... ORPHA:465508
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Pneumonia, Cerebral calcifica... ORPHA:1855
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Stridor, Respiratory distress, Abnormal heart morphology, Enlarged kidney, ... ORPHA:505248
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Ventriculomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Microcep... OMIM:608013
Multiple Sulfatase Deficiency
Hepatomegaly, Microcephaly, Hydrocephalus, Splenomegaly ORPHA:585
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Respiratory insufficiency ORPHA:1237
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Coccidioidomycosis
Pericarditis, Respiratory distress, Cough, Exudative pleural effusion, Abnormal sperm morphology,... ORPHA:228123
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Hydrocephalus, Splenomegaly OMIM:259700
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Te... ORPHA:1335
Pseudo-Torch Syndrome 3
Apnea, Abnormal cerebral white matter morphology, Respiratory insufficiency, Cardiomegaly, Cerebr... OMIM:618886
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Ventriculomegaly, Abnormal aortic valve morphology, Umbilical h... ORPHA:581
Campomelic Dysplasia
Apnea, Respiratory distress, Abnormal heart morphology, Tracheobronchomalacia, Hydrocephalus OMIM:114290
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the corpus callosum, Enlarged kidney, Holoprosencephaly, Ventriculomegaly, ... OMIM:612651
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Umbilical hernia, Respiratory distress ORPHA:1555
Intellectual Developmental Disorder, Autosomal Dominant 65
Dysgenesis of the hippocampus, Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Secondary mi... OMIM:618652
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Atrial septal defect, Hydrocephalus, Asthma OMIM:618162
Complete Atrioventricular Septal Defect
Wheezing, Tachypnea, Elevated pulmonary artery pressure, Complete atrioventricular canal defect, ... ORPHA:1329
Cryptococcosis
Prostatitis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Cerebral cortical... ORPHA:1546
Refsum Disease, Classic
Increased CSF protein, Cardiomegaly, Cardiomyopathy OMIM:266500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory arrest, Microcephaly, Hypertrophic cardiomyopathy OMIM:201475
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Respiratory distress OMIM:123790
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Gray matter heterotopia, ... OMIM:304050
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, H... OMIM:613150
Trisomy 17P
Microcephaly, Aortic valve stenosis, Hypoplastic left heart, Hydrocephalus ORPHA:261290
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Abnormal car... ORPHA:2306
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Apert Syndrome
Agenesis of corpus callosum, Ventricular septal defect, Absent septum pellucidum, Ventriculomegal... OMIM:101200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Holoprosencephaly, Anencephaly, Respiratory insufficiency, Hepatomegal... OMIM:269860
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Anterior hypopituitarism, Enlarged pituitary gland, Pituitary hypothyroidism,... ORPHA:91350
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventricular septal defect, Alobar holop... OMIM:301043
Pfeiffer Syndrome Type 2
Tracheomalacia, Hydrocephalus, Aqueductal stenosis, Respiratory distress ORPHA:93259
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Ventriculomegaly, Respiratory insufficiency, Agenesis of... ORPHA:87
Hyperphosphatasia With Mental Retardation Syndrome 1
Cerebral cortical atrophy, Hydrocephalus, Abnormal heart morphology OMIM:239300
Distal Monosomy 10Q
Cavum septum pellucidum, Atrial septal defect, Spina bifida occulta, Microcephaly, Dilation of la... ORPHA:96148
Popov-Chang syndrome
Pulmonic stenosis, Hydrocephalus OMIM:618428
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Upper airway obstruction, Atrial septal defect, Hydrocephalus OMIM:207410
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Monosomy 9Q22.3
Cardiac fibroma, Ventriculomegaly, Umbilical hernia, Calcification of falx cerebri, Hydrocephalus ORPHA:77301
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Cardiomegaly OMIM:613320
Meningioma
Abnormality on pulmonary function testing, Focal T2 hypointense thalamic lesion, Amenorrhea, Enla... ORPHA:2495
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpu... ORPHA:464738
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Exertional dyspnea ORPHA:42
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Splenomegaly ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum... OMIM:236670
Tetrasomy 5P
Pulmonary arterial hypertension, Lipoma of corpus callosum, Hydrocephalus, Respiratory distress ORPHA:3309
Shprintzen-Goldberg Syndrome
Apnea, Ventriculomegaly, Abnormal aortic valve morphology, Umbilical hernia, Mitral valve prolaps... ORPHA:2462
Opitz-Kaveggia Syndrome
Abnormal heart morphology, Gray matter heterotopia, Umbilical hernia, Hydrocephalus, Partial agen... OMIM:305450
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Hydrocephalus ORPHA:1834
Mirage Syndrome
Hypergonadotropic hypogonadism, Aspiration pneumonia, Hydrocephalus OMIM:617053
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Irregular menst... OMIM:101800
Cog5-Cdg
Cerebral white matter atrophy, Hepatomegaly, Diffuse cerebral atrophy, Microcephaly, Hepatospleno... ORPHA:263487
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Abnormal cardiac septum morphology, Myelomeningocele, Hydrocephalus ORPHA:90652
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:1812
Vacterl With Hydrocephalus
Arrhinencephaly, Spina bifida, Hydrocephalus, Aqueductal stenosis ORPHA:3412
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Abnormal heart morphology, Abnormal hypothalamus... ORPHA:93924
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Asthma, Thick corpus ... ORPHA:544488
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hep... OMIM:602782
Shprintzen-Goldberg Craniosynostosis Syndrome
Obstructive sleep apnea, Umbilical hernia, Mitral valve prolapse, Microcephaly, Hydrocephalus OMIM:182212
Desmosterolosis
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Total anomalous pulmon... OMIM:602398
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Respiratory distress, Ventricular septal defect, Mitral a... OMIM:306955
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Atrial septal defect, Hydrocephalus, Anencephaly OMIM:616546
Distal Tetrasomy 15Q
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Abnormal heart morphology ORPHA:314588
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Abnormal heart morphology, Cerebral atrophy, Pulmonary arterial hypertensio... ORPHA:79282
Osteopathia Striata With Cranial Sclerosis
Apnea, Atrial septal defect, Ventricular septal defect, Tracheomalacia, Spina bifida occulta, Hyd... OMIM:300373
Meckel Syndrome, Type 6
Hydrocephalus, Anencephaly OMIM:612284
Fanconi Anemia
Spina bifida, Atrial septal defect, Azoospermia, Ventriculomegaly, Abnormal aortic valve morpholo... ORPHA:84
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hydrocephalu... ORPHA:538
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Umbilical hernia, Microcephaly, Abn... ORPHA:2166
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Bacterial endocarditis, Mitral valve calcification, Spontaneous, recurrent epistaxis... ORPHA:2072
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Basal Cell Nevus Syndrome
Cardiac fibroma, Spina bifida, Cardiac rhabdomyoma, Calcification of falx cerebri, Hydrocephalus OMIM:109400
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Aplasia/Hypoplasia of the corpus callosum, Pulmonic stenosis, Cerebral cort... OMIM:115150
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Ventriculomegaly, Tracheomalacia, Aortic valve s... ORPHA:96121
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hypoplasia of the corpus callosum, Cerebral atrophy, Hydrocephalus OMIM:618590
Diets-Jongmans Syndrome
Thick corpus callosum, Heterotaxy, Umbilical hernia, Ventricular septal defect OMIM:618846
Hurler Syndrome
Abnormal heart valve morphology, Endocardial fibroelastosis, Hepatomegaly, Rhinitis, Splenomegaly... ORPHA:93473
Joubert Syndrome With Hepatic Defect
Apnea, Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Hepatomegaly... ORPHA:1454
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Alexander Disease
Sleep apnea, Agenesis of corpus callosum, Megalencephaly, Aqueductal stenosis, Respiratory insuff... ORPHA:58
Glutaric Acidemia I
Hepatomegaly, Dilation of lateral ventricles OMIM:231670
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Hydrocephalus ORPHA:2720
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse, Hydrocephalus, Asymmetric ventricles OMIM:616914
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Decreased thalami... ORPHA:168577
Monosomy 18Q
Diffuse white matter abnormalities, Pulmonary valve defects, Secundum atrial septal defect, Aorti... ORPHA:1600
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Histiocytoid Cardiomyopathy
Agenesis of corpus callosum, Ventricular septal defect, Cough, Hepatomegaly, Cardiomegaly, Tachyp... ORPHA:137675
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Gray matter heterotopia, Periventricular heterot... OMIM:612289
Hemifacial Microsomia
Hydrocephalus, Branchial anomaly, Ventricular septal defect, Tetralogy of Fallot, Agenesis of cor... OMIM:164210
Marden-Walker Syndrome
Situs inversus totalis, Agenesis of corpus callosum, Ventricular septal defect, Abnormal anatomic... ORPHA:2461
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Limb Body Wall Complex
Spina bifida, Atrial septal defect, Short umbilical cord, Abnormal heart morphology, Ventricular ... ORPHA:2369
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Chordee, Holoprosencephaly, Absent septum p... OMIM:618820
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Tetralogy of Fallot, Agenesis of corpus c... ORPHA:1780
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Agenesis of corpus callosum, Abnormal heart morphology, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Agenesis of corpus callosum, Abnormal heart morphology, Ventr... ORPHA:363958
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Lhermitte-Duclos Disease
Polymicrogyria, Hydrocephalus ORPHA:65285
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Hydrocephalus, Anencephaly OMIM:313850
Sickle Cell Anemia
Hepatomegaly, Priapism, Cardiomegaly, Splenomegaly, Hypoxemia OMIM:603903
Mucopolysaccharidosis Type 2
Sleep apnea, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal tricuspid valve... ORPHA:580
Tetrasomy 9P
Infertility, Pachygyria, Pericarditis, Oligospermia, Abnormal mitral valve morphology, Pulmonary ... ORPHA:3310
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Polymicrogyria, Microcephaly, Tetralogy of Fallot... OMIM:154400
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly... OMIM:257300
Familial Aortic Dissection
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea ORPHA:229
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus, Tracheomalacia, Ventricular septal defect ORPHA:268249
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Abnormal heart morphology, Hypergonadotropic hypogonadism, Hypoplasi... OMIM:227646
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Agenesis of corpus callosum, Fusion of the left ... OMIM:610828
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory failure, Hydrocephalus, Respiratory insufficiency OMIM:304120
Raine Syndrome
Microcephaly, Neonatal death, Hydrocephalus, Cerebral calcification OMIM:259775
Dubowitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Respiratory insufficiency, Asthma, Spina bifida occult... ORPHA:235
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Large placenta, Cerebral hypoplasia, Anencephaly, Olfactory lobe age... OMIM:249000
Gaucher Disease
Abnormal heart valve morphology, Mitral valve calcification, Ventriculomegaly, Abnormal pericardi... ORPHA:355
Cardiofaciocutaneous Syndrome
Atrial septal defect, Abnormal heart valve morphology, Pulmonic stenosis, Cerebral cortical atrop... ORPHA:1340
22Q11.2 Deletion Syndrome
Spina bifida, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Chronic pulmonary obst... ORPHA:567
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles, Ventricular septal d... ORPHA:1692
Sturge-Weber Syndrome
Pulmonary embolism, Hydrocephalus, Cerebral cortical atrophy, Cerebral calcification ORPHA:3205
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Umbilical hernia, Hepatomegaly, Cerebral cortical atrophy, Cardiomegaly, Microc... OMIM:618143
Plasminogen Deficiency, Type I
Hydrocephalus, Dandy-Walker malformation OMIM:217090
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Mitral valve prolapse, Reduced sperm motility, Enlarged ki... ORPHA:730
Familial Lambdoid Synostosis
Hydrocephalus ORPHA:3267
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Aymé-Gripp Syndrome
Pericarditis, Hypoplasia of the corpus callosum, Ventriculomegaly, Pericardial effusion, Cerebral... ORPHA:1272