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Gene: Suz12 MGI:1261758

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SUZ12 polycomb repressive complex 2 subunit

Synonyms:

D11Ertd530e, 2610028O16Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Suz12 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.

Human diseases associated with Suz12 (2 diseases)
Human diseases predicted to be associated with Suz12 (943 diseases)

The table below shows human diseases associated to Suz12 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Imagawa-Matsumoto Syndrome		Umbilical hernia, Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Weaver Syndrome		Scoliosis	ORPHA:3447

The table below shows human diseases predicted to be associated to Suz12 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Scoliosis, Spina bifida occul...	OMIM:618736
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Pontocerebellar Hypoplasia, Type 15	Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Spastic tetrapl...	OMIM:619302
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co...	OMIM:610031
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort...	OMIM:615191
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Lower limb spasticity, Tethered cord, Ataxia, Babinski sign, Spastic diplegia, Leukoencephalopath...	OMIM:615281
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Chiari ...	OMIM:207950
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst...	ORPHA:255182
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin...	OMIM:182940
Craniosynostosis 6	Cerebellar atrophy, Microcephaly, Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, ...	OMIM:616602
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis	ORPHA:3180
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ton...	OMIM:618276
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Focal polymicrogyria, Dysgenesis ...	OMIM:615771
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of ...	ORPHA:352682
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Polymicrogyria, Spastic tetraplegia, Hypoplas...	OMIM:611603
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormal vertebral morphology, Ventricul...	OMIM:618709
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Masa Syndrome	Lower limb spasticity, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus, Spastic paraplegia, ...	OMIM:303350
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ...	OMIM:617542
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t...	OMIM:307000
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Cerebellar vermis hypoplasia, Kyphosis, Perisylvian polymicrogyria, Lateral ventri...	OMIM:618291
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess	OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect	OMIM:608681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Dandy-Walker malformation, Agenesis of cerebellar vermis, Ventriculomegaly, Hypoplasia of the pon...	OMIM:613153
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Pachygyria, Molar tooth sign on MRI	OMIM:614173
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Cerebellar hypo...	OMIM:304100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Reduced cerebral white matter volume, Hydrocephalus, Spastic tetraplegia, Hypoplasia of t...	OMIM:618174
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosenc...	ORPHA:2182
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia	ORPHA:2807
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Hypertonia, Cerebellar...	OMIM:617090
Atypical Teratoid Rhabdoid Tumor	Cerebral palsy, Cerebral calcification, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus	ORPHA:99966
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi...	OMIM:609813
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys...	ORPHA:300573
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal bra...	ORPHA:1532
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Neuronal Intranuclear Inclusion Disease	Ataxia, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis, Spina bifida occulta	ORPHA:2289
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Spasticity, Polymicrog...	OMIM:600348
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Nevus Comedonicus Syndrome	Spina bifida, Microcephaly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology	ORPHA:64754
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Oculomotor apraxia, Agenesis of corpus callosum, Mol...	OMIM:619111
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Hypoplasia ...	OMIM:613162
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Microcephaly, Hypoplastic anterio...	ORPHA:171680
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node	OMIM:604864
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Lumbar h...	ORPHA:370959
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Molar tooth sig...	ORPHA:166024
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Microcephaly, Hypoplasia of the pons, Perisylvian p...	ORPHA:280195
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis o...	ORPHA:250972
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno...	ORPHA:101070
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal...	ORPHA:157941
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:1538
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly	OMIM:611808
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis	OMIM:184400
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebella...	OMIM:613155
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus cal...	ORPHA:2524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of the brainstem, Cerebell...	OMIM:615181
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Meckel Syndrome 13	Occipital encephalocele, Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:617562
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1	OMIM:102510
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Secondary microcephaly, Myoclonus...	OMIM:606777
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo...	ORPHA:99742
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Spinal Dysplasia, Anhalt Type	Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ...	OMIM:601344
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Microcephaly	OMIM:101805
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Microcephaly, Abnormal sacrum morphology, Vertebral segmentation defec...	ORPHA:1797
Fried Syndrome	Cerebral calcification, Abnormal cerebellum morphology, Hydrocephalus, Spastic diplegia, Scoliosis	ORPHA:85335
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis	ORPHA:1436
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Incoordination, Ataxia, Clonus, Microcephaly, Hydrocephalus, Cerebral atrophy...	OMIM:616034
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia...	OMIM:225790
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Palatal tremor, Hydrocephalus, Abnormal pyramidal sign, Spasticity, A...	ORPHA:363717
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Spastic tetraplegia, S...	ORPHA:599373
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo...	OMIM:613686
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Paralysis, Cerebral atrophy, Hypoplasia of the corpus callosum, Small basal g...	OMIM:616286
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Joubert Syndrome 31	Hypoplasia of the corpus callosum, Truncal ataxia, Oculomotor apraxia, Molar tooth sign on MRI, V...	OMIM:617761
Alexander Disease	Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,...	OMIM:203450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Simplified gyral pattern, Periventricu...	OMIM:619470
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, H...	OMIM:617967
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormality of the ...	ORPHA:2345
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Sacrococcygeal pilonidal abnormality	ORPHA:2840
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Central Neurocytoma	Abnormal lateral ventricle morphology, Cerebral calcification, Ataxia, Hydrocephalus, Babinski sign	ORPHA:73256
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Developmental And Epileptic Encephalopathy 36	Microcephaly, Hydrocephalus, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyram...	OMIM:300884
Rhizomelic Chondrodysplasia Punctata	Spina bifida occulta, Scoliosis, Microcephaly	ORPHA:177
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia	OMIM:616781
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Increased ...	ORPHA:500144
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary ...	OMIM:615599
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Distal Deletion 10Q	Lumbar hyperlordosis, Ataxia, Clonus, Microcephaly, Spasticity, Poor fine motor coordination, Lat...	ORPHA:96148
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:613982
Caudal Duplication	Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Spinal cord lesion, Ver...	ORPHA:1756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly...	OMIM:615249
Dystonia 31	Abnormal posturing, Parkinsonism	OMIM:619565
Microhydranencephaly	Microcephaly, Spastic tetraplegia, Athetosis, Hypoplasia of the brainstem, Cerebellar hypoplasia,...	OMIM:605013
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta	ORPHA:1514
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Pyruvate Dehydrogenase E1-Beta Deficiency	Ventriculomegaly, Ataxia, Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplas...	ORPHA:255138
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Sco...	OMIM:617360
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Kyphoscoliosis, Short neck, Microcephaly, Hypoplasia of the brainstem, Scolio...	OMIM:193700
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Kyphoscoliosis, Molar tooth sign on MRI, ...	OMIM:614815
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Scoliosis, Oculomotor...	ORPHA:220497
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly	OMIM:614830
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Adult Krabbe Disease	Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal pyramidal t...	ORPHA:206448
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Microcephaly, Kyphosis, Meningocele, Abnorma...	ORPHA:2311
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Secondary microcephaly, ...	ORPHA:397951
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia, M...	OMIM:608629
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissen...	ORPHA:324416
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Richieri-Costa/Guion-Almeida Syndrome	Gait ataxia, Spina bifida occulta, Microcephaly	OMIM:268850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Ventriculomegaly, Microcephaly, Spinal rigidity, Partial absence of cerebellar ver...	OMIM:613150
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta	ORPHA:2305
Joubert Syndrome 16	Oculomotor apraxia, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation	OMIM:614465
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CS...	OMIM:610333
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abn...	ORPHA:163961
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat...	ORPHA:276241
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Myelomeningocele, Spina bifida occulta	ORPHA:2437
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis	OMIM:309620
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Abnormal vertebral morphology, Tremor, Hydro...	ORPHA:220493
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Spinocerebellar Ataxia-Dysmorphism Syndrome	Aplasia/Hypoplasia of the cerebellum, Spina bifida occulta	ORPHA:1185
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ...	ORPHA:276244
White Forelock With Malformations	Spina bifida occulta	ORPHA:2475
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Microcephaly	ORPHA:63862
Joubert Syndrome 7	Encephalocele, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Scoliosis, Oculomotor ap...	OMIM:611560
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres...	ORPHA:101112
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s...	OMIM:252650
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Lymphopenia, Thrombocytosis, Anemia	OMIM:615934
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response, Hypoplasia of the pyramidal tract, Spinal rigidity, ...	OMIM:253800
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Aplasia/Hypoplasia of the c...	ORPHA:1908
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Hyperlordosis, Tremor, Kyphosis, Babinski sign, Blepharospasm, H...	OMIM:128100
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta	ORPHA:230839
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic c...	OMIM:620001
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Abnormal spinal cord morphol...	ORPHA:99947
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle...	OMIM:613154
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,...	OMIM:609583
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Ataxia, Hypoplasia of the pons, Oculomotor apraxia, Spastic paraplegia, Hydroce...	OMIM:614969
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Hydrocephalus, Periventricular leukomalacia, Microcephaly	OMIM:618302
Acrofacial Dysostosis, Palagonia Type	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:1787
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, CSF pleocytosis, Multifocal cerebral white matter a...	ORPHA:140989
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio...	OMIM:617751
Three M Syndrome 1	Increased vertebral height, Spina bifida occulta, Hyperlordosis, Short neck	OMIM:273750
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Joubert Syndrome 15	Oculomotor apraxia, Exencephaly, Ataxia, Molar tooth sign on MRI	OMIM:614464
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrosp...	OMIM:616900
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Increased CSF lactate, Paralysis	OMIM:613710
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Joubert Syndrome 9	Encephalocele, Scoliosis, Oculomotor apraxia, Molar tooth sign on MRI, Ventriculomegaly	OMIM:612285
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Molar tooth sign on MRI, Superior cerebellar dyspl...	OMIM:617622
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Scoliosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventric...	OMIM:618577
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Cerebral calcification, Ataxia, Sclerotic vertebral body, Rigidity, Kyphosis, H...	OMIM:618476
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Spina bifida, Abnormal form of the vertebral bodies, Microcephaly	ORPHA:1327
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis	OMIM:236660
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hypertonia	ORPHA:250994
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Chiari malformation, Frontal encephalocele	ORPHA:261102
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220220
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus...	OMIM:614424
Diabetic Embryopathy	Microcephaly, Hydrocephalus, Abnormal sacrum morphology, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:1926
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Thoracic scoliosis, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simpli...	ORPHA:300570
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Abnormal pyramidal sign, Lissenceph...	OMIM:614833
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
L1 Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Spasticity, Hydrocephalus	ORPHA:275543
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventricle dilatation...	OMIM:614219
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Cerebral calcification, Facial-lingua...	OMIM:617281
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Spasticity	OMIM:304700
Carpenter Syndrome 1	Sacral dimple, Short neck, Cerebral atrophy, Aplasia/Hypoplasia of the corpus callosum, Scoliosis...	OMIM:201000
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpus callosum, Agenesis of corpus ...	OMIM:218350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Spondylolisthesis	OMIM:617877
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Hypoplasia of the corpus callosum, Ocul...	OMIM:615665
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Spastic tetrapar...	ORPHA:356961
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Partial agenesis of the corpu...	OMIM:614643
Joubert Syndrome 32	Ataxia, Abnormal cerebellum morphology, Oculomotor apraxia, Polymicrogyria, Molar tooth sign on MRI	OMIM:617757
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Abnormal caudate nucleus morphology, Hypertonia, Respirato...	ORPHA:79139
Pettigrew Syndrome	Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Aqueductal ...	OMIM:304340
Aicardi Syndrome	Butterfly vertebrae, Cerebellar vermis hypoplasia, Block vertebrae, Spina bifida, Microcephaly, D...	OMIM:304050
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:588
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Short neck, Hydrocephalus, Cerebral atrophy...	OMIM:620156
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Acrocraniofacial Dysostosis	Spina bifida occulta, Abnormal form of the vertebral bodies, Microcephaly	ORPHA:949
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Brainstem...	OMIM:608091
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Gait ataxia, Scoliosis, Hypoplasia of the corpus callosum, Agenesis ...	OMIM:616362
Neu-Laxova Syndrome 2	Spina bifida, Short neck, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Scoliosis, Ventricu...	OMIM:616038
Iniencephaly	Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Anencephaly, Hydro...	ORPHA:63259
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis	ORPHA:134
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Neu-Laxova Syndrome	Ventriculomegaly, Cerebral calcification, Absent septum pellucidum, Abnormal cortical gyration, M...	ORPHA:2671
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dysplastic...	ORPHA:357058
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Sacral dimple, Microcephaly, Unilateral vocal cord paralysis, Cerebral atroph...	OMIM:301030
Neuropathy, Hereditary Motor And Sensory, Russe Type	Scoliosis, Paralysis	OMIM:605285
Duplication Of The Pituitary Gland	Encephalocele, Lower limb spasticity, Thoracic scoliosis, Abnormality of the cervical spine, Abno...	ORPHA:314621
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Microcephaly, Aqueductal stenosis...	OMIM:619895
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Osteopathia Striata-Cranial Sclerosis Syndrome	Cerebral calcification, Spina bifida occulta, Scoliosis, Hyperlordosis	ORPHA:2780
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae, Microcephaly	OMIM:619227
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Scoliosis	ORPHA:640
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Sacral dimple, Anencephaly, Cerebellar hypopla...	OMIM:614175
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:2318
Nasu-Hakola Disease	Cerebral calcification, Chorea, Hydrocephalus, Oculomotor apraxia, Spasticity, Cerebral cortical ...	ORPHA:2770
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:610688
Isolated Posterior Meningocele	Tethered cord, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegi...	ORPHA:268810
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski s...	ORPHA:397946
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Hemivertebrae, Spina bifida occulta, Agenesis of corpus...	OMIM:151050
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Microcephaly, Menin...	OMIM:236670
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Thrombocytosis, Anemia	ORPHA:20
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Anophthalmia Plus Syndrome	Vertebral segmentation defect, Spina bifida	ORPHA:1104
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Ventriculomegaly...	OMIM:616531
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Paralysis	OMIM:300857
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Progr...	ORPHA:225147
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Sacral dimple, Short neck, Hydrocephalus, Hypoplasia of the corpus callosum, Umbilical hernia	ORPHA:1516
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Microcephaly	ORPHA:1786
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Alagille Syndrome	Vertebral segmentation defect, Spina bifida occulta, Butterfly vertebral arch, Abnormal form of t...	ORPHA:52
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Spina bifida, Hydrocephalus, Prominent protruding coccyx, Abnormal form of ...	ORPHA:2839
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop...	OMIM:615688
Vacterl With Hydrocephalus	Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hemivertebrae, Abnormal ...	ORPHA:3412
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Short neck	OMIM:607131
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the bra...	OMIM:617822
Intellectual Developmental Disorder, Autosomal Dominant 70	Microcephaly, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Hypoplasia of th...	OMIM:620157
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Pallister-Hall-Like Syndrome	Occipital encephalocele, Microcephaly, Hydrocephalus, Chiari type I malformation, Hypothalamic ha...	OMIM:241800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Small cervical vertebral bodies, Cerebellar vermis hypoplasia, Ventricul...	ORPHA:397715
Osteopathia Striata With Cranial Sclerosis	Partial agenesis of the corpus callosum, Hydrocephalus, Scoliosis, Thoracolumbar kyphosis, Spina ...	OMIM:300373
Knobloch Syndrome 1	Cerebellar atrophy, Occipital encephalocele, Ataxia, Absent septum pellucidum, Microcephaly, Spin...	OMIM:267750
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Sacral dimple, Spina bifida, Short neck, Microcephaly, Hydrocephalus, A...	OMIM:613776
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Opisthotonus, Eye of the tiger anomaly of globus pallidus, Abnormal posturing, Freque...	ORPHA:216866
Combined Oxidative Phosphorylation Deficiency 54	Tremor, Dysplastic corpus callosum, Hemiparesis, Hypertonia, Secondary microcephaly, Periventricu...	OMIM:619737
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Vertebral segmentation defect, Ventriculomegaly, Spina bifida	ORPHA:1120
Split Cord Malformation	Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hyperlordosis, Myelo...	ORPHA:573278
Krabbe Disease	Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity...	OMIM:245200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Spastic tetraparesis, Hydrocephalus, Cerebral atrophy, Abnormal septum pellucidum morphology, Hyp...	ORPHA:171839
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Autosomal Recessive Multiple Pterygium Syndrome	Microcephaly, Vertebral segmentation defect, Scoliosis, Umbilical hernia, Spina bifida occulta	ORPHA:2990
Joubert Syndrome 33	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:617767
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morph...	OMIM:276950
Waardenburg Syndrome Type 1	Meningocele, Scoliosis, Spina bifida	ORPHA:894
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oculomotor apraxia,...	OMIM:615960
Hemangioblastoma	Cerebellar edema, Hydrocephalus, Spinal hemangioblastoma, Cerebellar hemangioblastoma	ORPHA:252054
Poems Syndrome	Thrombocytosis, Polycythemia	ORPHA:2905
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m...	ORPHA:2369
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Abnormality of the vertebral column, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Syringomyelia, Dandy-Walker malformation	OMIM:249400
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Thin corpus callosum, Cerebral atrophy	OMIM:616521
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Dubowitz Syndrome	Sacral dimple, Microcephaly, Wide anterior fontanel, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:235
Joubert Syndrome 27	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Gait ataxia	OMIM:617120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly	OMIM:602501
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Microcephaly, Spinal dysraphism, Unilateral vocal cord pare...	OMIM:617660
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Ataxia, Microcephaly, Hydrocephalus, Colpocephaly, Scoliosis, Periventricular leu...	OMIM:619833
3Mc Syndrome	Hyperlordosis, Prominent coccyx, Scoliosis, Umbilical hernia, Spina bifida occulta, Caudal appendage	ORPHA:293843
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Spastic tetraplegia, Kyphoscoliosis	OMIM:300886
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Umbilical hernia, Pachygyria, Spina bifida occulta, Scoliosis	OMIM:235510
Joubert Syndrome 40	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:619582
Variegate Porphyria	Paralysis	OMIM:176200
Trisomy 20P	Incoordination, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Verteb...	ORPHA:261318
Central Precocious Puberty In Male	Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Dworschak-Punetha Neurodevelopmental Syndrome	Short neck, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Joubert Syndrome 28	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:617121
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Short neck, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem...	OMIM:616546
Alexander Disease	Cerebral calcification, Ataxia, Clonus, Megalencephaly, Tremor, Aqueductal stenosis, Chorea, Shor...	ORPHA:58
Walker-Warburg Syndrome	Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria,...	ORPHA:899
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal cerebrospin...	ORPHA:68
Cleidocranial Dysplasia	Abnormal sacrum morphology, Spina bifida occulta, Scoliosis	ORPHA:1452
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corpus callos...	ORPHA:500159
Incontinentia Pigmenti	Hemiplegia/hemiparesis, Scoliosis, Umbilical hernia, Spasticity, Spina bifida occulta, Cerebral c...	ORPHA:464
Cerebrocostomandibular Syndrome	Cerebral calcification, Spina bifida, Microcephaly, Kyphosis, Myelomeningocele, Porencephalic cys...	ORPHA:1393
Methylcobalamin Deficiency Type Cble	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of the brainst...	ORPHA:2169
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, M...	OMIM:613330
Congenital Toxoplasmosis	Hydrocephalus, Cerebral calcification, Ventriculomegaly, Microcephaly	ORPHA:858
Duane Retraction Syndrome	Short neck, Microcephaly, Abnormal form of the vertebral bodies, Blepharospasm, Abnormal vertebra...	ORPHA:233
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Spasticity, Hypoplastic vertebral bo...	OMIM:272200
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, Poor motor coordination, T2 hypointen...	ORPHA:25
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Chiari malforma...	ORPHA:93262
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormal form of the ...	ORPHA:475
Myasthenic Syndrome, Congenital, 16	Hyperlordosis, Periodic paralysis	OMIM:614198
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis	OMIM:212065
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia	OMIM:615486
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Hydrocephalus, Abnormal brainstem morphology, Hypertonia, Aplasia/Hypoplasia of the cereb...	ORPHA:2720
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:272
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Trisomy 18	Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypertonia, C...	ORPHA:3380
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Hydrocephalus, Scoliosis, Hemiplegia, Umbilical hernia	ORPHA:2181
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Megalencephaly, Kyphosis, Hydrocephalus, Thick corpus callosum, Hypoplasia of...	OMIM:603387
Joubert Syndrome 8	Occipital encephalocele, Ataxia, Hypertonia, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:612291
Even-Plus Syndrome	Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft vertebrae, Agenesis of ...	OMIM:616854
Joubert Syndrome 35	Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,...	OMIM:618161
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Spina bifida, Microcephaly, Short neck, Fused cervica...	ORPHA:508498
Glutaric Acidemia I	Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat...	OMIM:231670
Williams-Beuren Region Duplication Syndrome	Speech apraxia, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, V...	OMIM:609757
Joubert Syndrome 20	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:614970
Larsen Syndrome	Vertebral fusion, Cervical kyphosis, Spinal cord compression, Spondylolysis, Scoliosis, Beaking o...	OMIM:150250
Mosaic Trisomy 9	Ventriculomegaly, Spina bifida, Short neck, Microcephaly, Hemivertebrae, Scoliosis, Dandy-Walker ...	ORPHA:99776
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Tremor, Chorea,...	OMIM:615673
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Hydrocephalus, Abnormal form of the vertebral ...	ORPHA:2635
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Arachnoid Cyst	Back pain, Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ve...	ORPHA:2356
Microcephaly 26, Primary, Autosomal Dominant	Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Extra-a...	OMIM:619179
Brucellosis	Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukope...	ORPHA:1304
Peho Syndrome	Cerebellar atrophy, Microcephaly, Hydrocephalus, Porencephalic cyst, Atrophy/Degeneration affecti...	ORPHA:2836
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Hemivertebrae, Agenesis of corpus callosum, Holoprosencephaly, Abnormal vertebral ...	ORPHA:77298
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Arnold-Chiari Malformation Type I	Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiari type I malformation, Progres...	ORPHA:268882
Glioblastoma	Abnormal cerebral white matter morphology, Paralysis, Cerebral edema, Abnormal corpus callosum mo...	ORPHA:360
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Duane-Radial Ray Syndrome	Fused cervical vertebrae, Spina bifida occulta, Scoliosis	OMIM:607323
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar ver...	OMIM:213300
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Sacral dimple, Spina bifida, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Sacral dimple, Spina bifida, Microcephaly, Hyperlordosis, Kyphosis, Hydrocephalus...	ORPHA:363958
Encephalocraniocutaneous Lipomatosis	Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c...	OMIM:613001
Coach Syndrome 3	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:619113
Joubert Syndrome 37	Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Oculomotor...	OMIM:619185
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Joubert Syndrome 39	Oculomotor apraxia, Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:619562
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys...	ORPHA:8
Hydrolethalus	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum	ORPHA:2189
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Hypertonia, Increased CSF lactate, Microcephaly	OMIM:604273
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Basal Cell Nevus Syndrome 1	Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hemivertebrae, Vertebral wedging, ...	OMIM:109400
Intellectual Developmental Disorder, X-Linked 30	Clumsiness, Hydrocephalus, Microcephaly	OMIM:300558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Tethered cord, Spina bifida, Partial agenesis of the corpus callosum, Scoliosis, Thi...	OMIM:619480
3Mc Syndrome 1	Sacral dimple, Microcephaly, Wide anterior fontanel, Spina bifida occulta, Caudal appendage	OMIM:257920
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia, Clumsiness	OMIM:619320
Diencephalic Syndrome	Hydrocephalus	ORPHA:1672
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Spastic tetraplegia, Hypoplasia of the br...	OMIM:619306
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:1647
Thanatophoric Dysplasia Type 2	Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Dural Sinus Malformation	Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myelopathy, Poor coordination, Hydrocephalu...	ORPHA:97339
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Punctate vertebral calcifications, Hydrocephalus, Short neck	ORPHA:1914
Baller-Gerold Syndrome	Wide anterior fontanel, Hydrocephalus, Spina bifida occulta, Chiari malformation, Scoliosis, Poly...	OMIM:218600
1Q44 Microdeletion Syndrome	Microcephaly, Hydrocephalus, Scoliosis, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:238769
Townes-Brocks Syndrome 2	Spina bifida occulta, Scoliosis	OMIM:617466
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia ...	OMIM:216360
Noonan Syndrome With Multiple Lentigines	Spina bifida occulta, Scoliosis	ORPHA:500
Rubinstein-Taybi Syndrome 1	Incoordination, Spina bifida, Microcephaly, Wide anterior fontanel, Poor coordination, Scoliosis,...	OMIM:180849
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Cerebral atrophy	OMIM:614857
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Hydr...	OMIM:600145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus cal...	OMIM:616538
Sirenomelia	Absence of the sacrum, Spina bifida, Sirenomelia	ORPHA:3169
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi...	ORPHA:59315
Rabin-Pappas Syndrome	Microcephaly, Hypoplasia of the pons, Hydrocephalus, Chiari type I malformation, Cerebellar hypop...	OMIM:620155
Biemond Syndrome Type 2	Hydrocephalus	ORPHA:141333
Focal Facial Dermal Dysplasia Type Iv	Hemiparesis, Hydrocephalus, Microcephaly	ORPHA:398189
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Camptodactyly Syndrome, Guadalajara, Type Iii	Torticollis, Spina bifida occulta, Short neck	OMIM:611929
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Scoliosis, Spina bifida	OMIM:162200
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Rigidity, Hydroce...	ORPHA:35107
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Short neck, Hypoplasia of the...	ORPHA:444072
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Hemivertebrae, Cerebellar hypoplasia, Holoprosencepha...	OMIM:264480
6P22 Microdeletion Syndrome	Hydrocephalus, Short neck	ORPHA:251046
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
Jacobsen Syndrome	Spina bifida, Short neck, Abnormal form of the vertebral bodies, Cerebral atrophy, Scoliosis, Pac...	ORPHA:2308
Neu-Laxova Syndrome 1	Ventriculomegaly, Spina bifida, Short neck, Choroid plexus cyst, Lissencephaly, Cerebellar hypopl...	OMIM:256520
Frontometaphyseal Dysplasia	Fused cervical vertebrae, Chiari malformation, Spina bifida occulta, Scoliosis	ORPHA:1826
Focal Dermal Hypoplasia	Microcephaly, Hydrocephalus, Myelomeningocele, Chiari malformation, Scoliosis, Umbilical hernia, ...	OMIM:305600
Encephalocraniocutaneous Lipomatosis	Cerebral calcification, Absent septum pellucidum, Paralysis, Rigidity, Cerebral atrophy, Tetraple...	ORPHA:2396
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Short neck	ORPHA:2183
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Crouzon Syndrome	Hydrocephalus, Chiari malformation, Cerebellar hypoplasia, Abnormal sacrum morphology	ORPHA:207
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli...	OMIM:603546
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Emanuel Syndrome	Sacral dimple, Ventriculomegaly, Kyphoscoliosis, Microcephaly, Hydrocephalus, Cerebral atrophy, A...	ORPHA:96170
Gorlin Syndrome	Vertebral fusion, Cerebral calcification, Hydrocephalus, Hemivertebrae, Vertebral wedging, Scoliosis	ORPHA:377
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly	OMIM:615630
Cerebral Visual Impairment	Cerebral palsy, Microcephaly, Hydrocephalus, Clumsiness, Abnormal cerebral white matter morpholog...	ORPHA:447788
Phakomatosis Pigmentokeratotica	Hemiparesis, Scoliosis, Spina bifida	ORPHA:2874
Infantile Sialic Acid Storage Disease	Hydrocephalus, Cerebral atrophy	OMIM:269920
Fanconi Anemia, Complementation Group R	Tethered cord, Microcephaly, Hydrocephalus, Chiari type I malformation, Scoliosis	OMIM:617244
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ventriculomegaly, Ataxia, Microcephaly, Atrophy of the spinal cord, Hydroc...	ORPHA:395
Coffin-Siris Syndrome 1	Sacral dimple, Microcephaly, Kyphosis, Partial agenesis of the corpus callosum, Gait ataxia, Hypo...	OMIM:135900
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Trisomy 1Q	Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly	ORPHA:261344
Holoprosencephaly	Encephalocele, Microcephaly, Short neck, Chorea, Hydrocephalus, Spinal cord tumor, Abnormal form ...	ORPHA:2162
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp...	OMIM:618590
Poland Syndrome	Encephalocele, Short neck, Microcephaly, Kyphosis, Hemivertebrae, Vertebral segmentation defect, ...	ORPHA:2911
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Medulloblastoma	Back pain, Ataxia, Cerebellar calcifications, Hydrocephalus, Spinal cord tumor, Dysmetria, Progre...	ORPHA:616
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca...	ORPHA:488627
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Ventric...	ORPHA:60040
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Olivopontocerebellar hypoplasia, Hydrocephalus, Scoliosis, Hypoplasia of the corpus callosum, Age...	ORPHA:457284
Hallermann-Streiff Syndrome	Spina bifida, Hyperlordosis, Microcephaly, Choreoathetosis, Scoliosis	OMIM:234100
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Hy...	OMIM:614576
Tick-Borne Encephalitis	Speech apraxia, Back pain, Abnormal medulla oblongata morphology, Incoordination, Paralysis, Trem...	ORPHA:297
Neurooculorenal Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of th...	OMIM:620305
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Scoliosis, Spina bifida	OMIM:161200
Zimmermann-Laband Syndrome 1	Oculomotor apraxia, Umbilical hernia, Spina bifida occulta, Scoliosis	OMIM:135500
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Microcephaly, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of the corpus callosu...	OMIM:619512
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Scoliosis, Gait ataxia	OMIM:616355
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Hydrocephalus, Kyphosis, Platyspondyly, Ventriculomegaly	ORPHA:2655
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Carnitine Palmitoyltransferase Ii Deficiency	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph...	ORPHA:157
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Spina bifida occulta	OMIM:300707
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ...	ORPHA:544488
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Hydrocephalus, Hypertonia, Lissencephaly, Secondary microcephaly, Umbilical hernia, D...	OMIM:612938
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Microcephaly, Hypodysplasia of the corpus callosum, Short neck, Hydrocephalus, ...	OMIM:257300
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum, Scoliosis, Microcephaly	OMIM:612940
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Lateral Meningocele Syndrome	Vertebral fusion, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningocele, Dural ectasia,...	OMIM:130720
Emanuel Syndrome	Torticollis, Sacral dimple, Ventriculomegaly, Microcephaly, Kyphosis, Hydrocephalus, Cerebral atr...	OMIM:609029
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Unilateral Polymicrogyria	Involuntary movements, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Spastic tetr...	ORPHA:268943
Oculoskeletodental Syndrome	Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Focal white matter lesions	ORPHA:557003
Triploidy	Short neck, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly	ORPHA:3376
Edinburgh Malformation Syndrome	Hydrocephalus, Hypertonia	ORPHA:1895
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Doors Syndrome	Small cerebellar cortex, Microcephaly, Hemivertebrae, Spina bifida occulta, Sirenomelia, Lumbar s...	ORPHA:79500
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi...	ORPHA:228308
Apert Syndrome	Absent septum pellucidum, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Vertebral segmentation ...	ORPHA:87
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia	ORPHA:65285
Orofaciodigital Syndrome Xvi	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Ventriculomegaly	OMIM:617563
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the...	ORPHA:314679
Sandifer Syndrome	Abnormal posturing, Torticollis, Decreased cervical spine mobility	ORPHA:71272
Leopard Syndrome 1	Spina bifida occulta, Kyphoscoliosis, Short neck	OMIM:151100
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L...	OMIM:610828
Achondroplasia	Lumbar hyperlordosis, Megalencephaly, Hydrocephalus, Brain stem compression, Lumbar kyphosis in i...	OMIM:100800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Scoliosis, Hemivertebrae, Hydrocephalus, Abnormal form of the vertebral bodies	ORPHA:2180
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Spasticity, Cerebellar hypoplasia	OMIM:618810
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc...	ORPHA:1454
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis	ORPHA:803
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus	OMIM:612863
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp...	ORPHA:2968
Williams Syndrome	Sacral dimple, Ataxia, Involuntary movements, Microcephaly, Atrophy/Degeneration involving the co...	ORPHA:904
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Molar tooth sign on MRI...	OMIM:277170
Tenorio Syndrome	Cerebral palsy, Hydrocephalus, Clumsiness, Scoliosis, Cavum septum pellucidum, Cerebral cortical ...	OMIM:616260
Joubert Syndrome 17	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:614615
B4Galt1-Cdg	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation	ORPHA:79332
Temple Syndrome	Hydrocephalus, Scoliosis	ORPHA:254516
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis, Microcephaly	ORPHA:2375
Bresek Syndrome	Hydrocephalus, Hemivertebrae, Scoliosis, Microcephaly	ORPHA:85284
Desmosterolosis	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c...	OMIM:602398
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Thoracic scoliosis, Cervical kyphosis, Spina bifida, Kyphosco...	OMIM:114290
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Imagawa-Matsumoto Syndrome	Umbilical hernia, Polymicrogyria, Agenesis of corpus callosum	OMIM:618786
Amelocerebrohypohidrotic Syndrome	Spasticity, Hydrocephalus	ORPHA:1946
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Abnormal intervertebral disk morphology	ORPHA:2701
Griscelli Syndrome	Encephalocele, Spasticity, Ataxia, Hydrocephalus	ORPHA:381
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Agenesis of corpus callosum, Hydrocephalus	ORPHA:3301
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Ulnar Hemimelia	Butterfly vertebrae, Scoliosis, Spinal dysraphism	ORPHA:93320
Peters Plus Syndrome	Sacral dimple, Microcephaly, Short neck, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum...	ORPHA:709
Fanconi Anemia, Complementation Group B	Short neck, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Abnormal ver...	OMIM:300514
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Short neck	ORPHA:488434
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi...	OMIM:614924
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida, Supernumerary vertebrae	OMIM:193500
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Fused cervical vertebrae, Syringomyelia, Cerebellar h...	OMIM:274000
Focal Dermal Hypoplasia	Umbilical hernia, Scoliosis, Spina bifida	ORPHA:2092
Liposarcoma	Sarcoma	ORPHA:69078
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Abnormal posturing, Agenesis of corpu...	OMIM:242840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Microcephaly, Hydrocephalus, Spasticity, Aplasia/Hypoplasia of the corpus callo...	OMIM:253280
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Ataxia, Aplasia/Hypoplasia of the cerebel...	OMIM:610188
Popliteal Pterygium Syndrome	Spina bifida occulta	OMIM:119500
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Stromme Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of cor...	OMIM:243605
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Cerebellar hypoplasia, Platyspondyly	ORPHA:163966
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Tetrasomy 15Q26	Kyphoscoliosis, Syringomyelia, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Cloacal Exstrophy	Myelomeningocele, Hemivertebrae, Spina bifida	ORPHA:93929
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Paralysis	ORPHA:449285
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Chiari malformation	ORPHA:93259
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Short neck, Secondary microcephaly, Hypoplasia of the corpus ...	ORPHA:508488
3C Syndrome	Ventriculomegaly, Short neck, Kyphosis, Hydrocephalus, Hemivertebrae, Scoliosis, Aplasia/Hypoplas...	ORPHA:7
Fibular Hemimelia	Spina bifida	ORPHA:93323
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Oxoglutaric Aciduria	Hydrocephalus, Hypertonia, Ataxia	ORPHA:31
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Spasticity, Secondary microcephaly	OMIM:619423
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Microcephaly, Dilated third ventricle, Kyphosis, Hydrocephalus, Sc...	ORPHA:500055
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dysgenesis of the cerebellar ver...	OMIM:619479
Endocrine-Cerebroosteodysplasia	Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla...	OMIM:612651
Oculoauricular Syndrome	Spina bifida occulta	OMIM:612109
Hereditary Chronic Pancreatitis	Leukocytosis	ORPHA:676
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Hemivertebrae, Dandy-Walker malformation	OMIM:220210
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis	ORPHA:43
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Short neck, La...	OMIM:249000
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida, Microcephaly	ORPHA:991
Temple Syndrome	Hydrocephalus, Scoliosis	OMIM:616222
22Q11.2 Deletion Syndrome	Spina bifida, Microcephaly, Short neck, Hydrocephalus, Meningocele, Occipital myelomeningocele, S...	ORPHA:567
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Increased CSF protein concentration, Paralysis	OMIM:612300
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Porencephalic cyst, Hemiparesis, Hypertonia, Periventricular leukom...	ORPHA:974
Thanatophoric Dysplasia, Type I	Short neck, Hydrocephalus, Platyspondyly, Temporal lobe dysplasia, Severe platyspondyly	OMIM:187600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Spina bifida occulta	ORPHA:500095
Full Nf2-Related Schwannomatosis	Abnormal cerebellum morphology, Hydrocephalus, Myelopathy, Spinal cord tumor, Hemiparesis, Brain ...	ORPHA:637
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Abnormal cerebellum morphology, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus,...	OMIM:211530
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Axial Mesodermal Dysplasia Spectrum	Short neck, Hydrocephalus, Abnormal form of the vertebral bodies, Vertebral segmentation defect, ...	ORPHA:1834
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Fanconi Anemia	Spina bifida, Microcephaly, Hydrocephalus, Scoliosis, Umbilical hernia, Ventriculomegaly	ORPHA:84
Thakker-Donnai Syndrome	Communicating hydrocephalus, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion, Agenesis...	ORPHA:1780
Tetrasomy 5P	Pericallosal lipoma, Short neck, Wide anterior fontanel, Hydrocephalus, Cerebellar hypoplasia	ORPHA:3309
Thanatophoric Dysplasia Type 1	Wide anterior fontanel, Hydrocephalus, Abnormal sacroiliac joint morphology, Kyphosis, Platyspond...	ORPHA:1860
Marshall-Smith Syndrome	Thoracic scoliosis, Absent septum pellucidum, Kyphoscoliosis, Hypoplasia of the odontoid process,...	OMIM:602535
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Scoliosis, Spinal dysraphism	OMIM:612918
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Trisomy 17P	Short neck, Microcephaly, Hydrocephalus, Hypertonia, Scoliosis	ORPHA:261290
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria, Short neck	ORPHA:2328
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Beare-Stevenson Cutis Gyrata Syndrome	Hydrocephalus, Chiari malformation, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Achondroplasia	Lumbar hyperlordosis, Wide anterior fontanel, Hydrocephalus, Kyphosis, Spinal canal stenosis, Tho...	ORPHA:15
Congenital Sialidosis Type 2	Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Umbilical hernia, Spasticity	ORPHA:93400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Megalencephaly, Wide anterior fontanel, Kyphosis, Hydrocephalus, Platyspond...	OMIM:616482
Plasminogen Deficiency, Type I	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:217090
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal cerebral white matter morphology, Cerebral edema, Paralysis	ORPHA:83601
Alobar Holoprosencephaly	Abnormal central motor function, Microcephaly, Hydrocephalus, Oromotor apraxia, Abnormal brainste...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Microcephaly, Hydrocephalus, Oromotor apraxia, Abnormal brainste...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Microcephaly, Hydrocephalus, Oromotor apraxia, Abnormal brainste...	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal central motor function, Microcephaly, Hydrocephalus, Oromotor apraxia, Abnormal brainste...	ORPHA:220386
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp...	OMIM:615948
15Q Overgrowth Syndrome	Hydrocephalus, Abnormal coccyx morphology, Syringomyelia, Scoliosis, Agenesis of corpus callosum,...	ORPHA:314585
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Platyspondyly	OMIM:300863
Lowry-Maclean Syndrome	Hemiparesis, Hydrocephalus, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2409
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Br...	OMIM:243910
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Hydrocephalus, Cerebral atrophy, Microcephaly	OMIM:614886
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Vertebral compression fracture, Hydrocephalus, Scoliosis	OMIM:112240
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec...	ORPHA:175
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Communicating hydrocephalus, Megalencephaly, Hyperlordosis, Kyphosis, Thick c...	OMIM:617011
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce...	OMIM:311200
Fg Syndrome Type 1	Sacral dimple, Abnormal cerebellum morphology, Hydrocephalus, Aplasia/Hypoplasia of the corpus ca...	ORPHA:93932
Apert Syndrome	Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Chiari ...	OMIM:101200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Ataxia	ORPHA:1861
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Marden-Walker Syndrome	Absent septum pellucidum, Microcephaly, Kyphosis, Hydrocephalus, Abnormal form of the vertebral b...	ORPHA:2461
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp...	OMIM:203700
Neonatal Lupus Erythematosus	Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology	ORPHA:398124
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Microcephaly, ...	ORPHA:168577
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Hydrocephalus, Facial paralysis	OMIM:259700
Monosomy 18Q	Kyphoscoliosis, Microcephaly, Diffuse white matter abnormalities, Poor coordination, Hydrocephalu...	ORPHA:1600
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Short neck, Wide anterior fontanel, Partial agenesis of the ...	OMIM:305450
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Vertebral wedging, Platyspondyly, Ventriculomegaly	OMIM:617866
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Facial paralysis	OMIM:259710
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Osteopetrosis, Autosomal Recessive 5	Clonus, Microcephaly, Diffuse white matter abnormalities, Hydrocephalus, Spastic tetraplegia, Cer...	OMIM:259720
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Short neck, Microcephaly, Hydrocephalus, Anisospondyly	ORPHA:1865
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Ischemic stroke, Increased CSF lactate	ORPHA:90065
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Joubert Syndrome 38	Oculomotor apraxia, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Molar to...	OMIM:619476
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Hypothal...	ORPHA:2754
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Scoliosis, Microcephaly	ORPHA:250989
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Chiari type I malformation, Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Short neck, Partial agenesis of the corpus callosum, Apla...	ORPHA:434179
Cole-Carpenter Syndrome 2	Kyphosis, Hydrocephalus, Platyspondyly	OMIM:616294
Poliomyelitis	Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations, Myelitis	ORPHA:2912
Arachnoiditis	Hydrocephalus	ORPHA:137817
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Hyd...	OMIM:253220
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Holoprosen...	ORPHA:2166
Genitopalatocardiac Syndrome	Kyphosis, Hydrocephalus, Scoliosis, Microcephaly	ORPHA:2075
Distal Triplication 15Q	Kyphosis, Hydrocephalus, Syringomyelia, Scoliosis, Dandy-Walker malformation	ORPHA:314588
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hyperlordosis, Hypoplasia of the odontoid process, Hydrocephalus, Spinal canal stenosis, Coronal ...	OMIM:616007
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Hydrocephalus, Abnormality of the vertebral column, Abnormal vertebral morphology	OMIM:314390
Pfeiffer Syndrome	Hydrocephalus, Chiari malformation	OMIM:101600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Spasticity, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Hydrocephalus, Cerebral cortical atrophy	OMIM:239300
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Kyphoscoliosis, Dysplastic corpus callosum, Colpocephaly, Chiari malfor...	OMIM:618820
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Spinal rigidity, Kyphosis, Normal pressure hydrocephalus, Scoliosis, Frequent...	OMIM:620351
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum	OMIM:309801
Monosomy 9Q22.3	Short neck, Kyphosis, Hydrocephalus, Abnormality of the vertebral column, Chiari malformation, Ca...	ORPHA:77301
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the c...	OMIM:605627
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Short neck	OMIM:224400
Histiocytoid Cardiomyopathy	Hemiplegia, Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum	ORPHA:137675
Cardiofaciocutaneous Syndrome 1	Short neck, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Hypertonia, Scoliosis, Ocul...	OMIM:115150
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly	ORPHA:363444
Hurler Syndrome	Cerebral palsy, Short neck, Hydrocephalus, Abnormal pyramidal sign, Spinal canal stenosis, Scolio...	ORPHA:93473
Laryngeal Abductor Paralysis	Vocal cord paralysis, Microcephaly	OMIM:150260
Whipple Disease	Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Scoliosis	ORPHA:1335
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Scoliosis, Abnormal vertebr...	OMIM:192350
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus, Cerebellar hypoplasia, Scoliosis, Abnormal verteb...	ORPHA:90652
Otopalatodigital Syndrome, Type Ii	Spina bifida, Short neck, Kyphoscoliosis, Wide anterior fontanel, Hydrocephalus, Platyspondyly, S...	OMIM:304120
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Hydrocephalus, Cervical cord compression, Umbilical hernia	OMIM:309900
Sturge-Weber Syndrome	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Chiari malformation	ORPHA:3205
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Hydrocephalus, Scoliosis	OMIM:619951
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Paralysis, Thoracolumbar kyphosis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Hy...	ORPHA:2072
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscoliosis, Megalencephaly, Kyphosis, Diff...	ORPHA:457359
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep...	OMIM:210710
Shprintzen-Goldberg Craniosynostosis Syndrome	Microcephaly, Wide anterior fontanel, Hydrocephalus, Chiari type I malformation, C1-C2 vertebral ...	OMIM:182212
Rift Valley Fever	Back pain, Paralysis, Paraparesis, CSF pleocytosis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Ataxia, Hydrocephalus, Microcephaly	ORPHA:220295
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Microcephaly, Megalencephaly, Hydrocephalus, Ventriculomegaly	OMIM:613603
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Hydrocephalus, Lateral ventricular asymmetry, Dural ectasia	OMIM:616914
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Hydrocephalus, Kyphosis, Umbilical hernia, Biconc...	OMIM:607014
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Hydrocephalus	OMIM:612301
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations	ORPHA:682
Meningioma	Back pain, Hemifacial spasm, Abnormal central motor function, Ataxia, Abnormal cerebellum morphol...	ORPHA:2495
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Schizencephaly, Cortical dysplasia, Porencephalic cyst, Babinski sign, Hydroc...	OMIM:175780
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	ORPHA:37553
7Q11.23 Microduplication Syndrome	Sacral dimple, Short neck, Hydrocephalus, Hemivertebrae, Simplified gyral pattern, Dysmetria, Cer...	ORPHA:96121
Multiple Sulfatase Deficiency	Hydrocephalus, Microcephaly	ORPHA:585
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Microcephaly, Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Cerebral corti...	OMIM:277400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Microcephaly, Atrophy of the spinal cord, Hydrocephalus, Leukoencephalopathy, Cerebral at...	ORPHA:79282
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ...	OMIM:253200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Hydrocephalus, Ce...	ORPHA:536467
Axenfeld-Rieger Syndrome, Type 2	Umbilical hernia, Hydrocephalus	OMIM:601499
Zttk Syndrome	Dysplastic corpus callosum, Kyphosis, Hemivertebrae, Abnormal cerebral white matter morphology, C...	OMIM:617140
Inhalational Botulism	Paralysis	ORPHA:254504
Mend Syndrome	Sacral dimple, Wide anterior fontanel, Hydrocephalus, Kyphosis, Hypoplasia of the corpus callosum...	ORPHA:401973
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Cole-Carpenter Syndrome	Communicating hydrocephalus, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Mucopolysaccharidosis Type 1	Hemiplegia/hemiparesis, Hydrocephalus, Spinal canal stenosis, Abnormal form of the vertebral bodi...	ORPHA:579
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Molar tooth sign on MRI, Encephalocele, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:616300
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Communicating hydrocephalus, Ataxia, Short neck, Spastic paraplegia, Clumsine...	ORPHA:309282
Trisomy 8P	Sacral dimple, Short neck, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker...	ORPHA:264450
Mirage Syndrome	Hydrocephalus, Scoliosis, Paraplegia	OMIM:617053
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:227646
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Mucopolysaccharidosis Type 3	Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Abnormal form of the vertebral bodies...	ORPHA:581
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Sacral dimple, Microcephaly, Partial agenesis of th...	OMIM:270400
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly	ORPHA:244
Crouzon Syndrome	Hydrocephalus, Abnormality of the cervical spine	OMIM:123500
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Cousin Syndrome	Short neck, Hydrocephalus, Prominent protruding coccyx, Hydranencephaly, Anterior rounding of ver...	OMIM:260660
Aymé-Gripp Syndrome	Hydrocephalus, Chiari type I malformation, Scoliosis, Hypoplasia of the corpus callosum, Cerebral...	ORPHA:1272
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Osteogenesis Imperfecta	Ataxia, Cervical kyphosis, Kyphosis, Hydrocephalus, Vertebral compression fracture, Noncommunicat...	ORPHA:666
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Microcephaly, Head titu...	OMIM:619475
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Hydrocephalus, Hemivertebrae, Scoliosis	OMIM:104350
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Spinal canal stenosis, Hypoplastic vertebral bodies, Scoliosis, Narrow vertebral i...	OMIM:101800
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Microcephaly, Abnormal form of the vertebral bodies, Chiari malforma...	ORPHA:2462
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Dysplastic corpus callosum, Kyphosis, Thick corpu...	OMIM:300967
Laurin-Sandrow Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
Holoprosencephaly 9	Abnormal cortical gyration, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum,...	OMIM:610829
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis, Scoliosis, Microcephaly	OMIM:170390
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Block vertebrae, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cer...	OMIM:306955
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Mohr Syndrome	Hydrocephalus, Porencephalic cyst, Scoliosis	OMIM:252100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Microcephaly, Short neck, Wide anterior fontanel, Large placenta, Hemivertebrae, ...	ORPHA:96334
Acrofacial Dysostosis 1, Nager Type	Microcephaly, Aqueductal stenosis, Hydrocephalus, Scoliosis, Polymicrogyria, Abnormality of the c...	OMIM:154400
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Lenz-Majewski Hyperostotic Dwarfism	Absent septum pellucidum, Kyphosis, Hydrocephalus, Scoliosis, Agenesis of corpus callosum	ORPHA:2658
Kabuki Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Vertebral clefting, Hemivertebrae, Abnormal form o...	ORPHA:2322
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Absent septum pellucidum, Microcephaly, Kyphosis,...	OMIM:194190
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Umbilical hernia, Hydrocephalus	ORPHA:1555
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Chiari malformation	OMIM:618162
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Ataxia, Cerebral atrophy	OMIM:616084
Short-Rib Thoracic Dysplasia 12	Hydrocephalus, Anencephaly, Holoprosencephaly, Short neck	OMIM:269860
Gracile Bone Dysplasia	Hydrocephalus	OMIM:602361
African Trypanosomiasis	Abnormal basal ganglia MRI signal intensity, Ventriculomegaly, Abnormal central motor function, I...	ORPHA:3385
Meckel Syndrome	Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the corpus callosu...	ORPHA:564
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Wide anterior fontanel, Hydrocephalus	OMIM:207410
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hydrocephalus, Platyspondyly, Scoliosis, Short neck	OMIM:245600
Jacobsen Syndrome	Short neck, Microcephaly, Hydrocephalus, Holoprosencephaly, Spasticity	OMIM:147791
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Cardiofaciocutaneous Syndrome	Hydrocephalus, Cerebral cortical atrophy, Scoliosis, Short neck	ORPHA:1340
Craniopharyngioma	Abnormal hypothalamus morphology, Hydrocephalus, Cerebral calcification	ORPHA:54595
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydrocephalus, Chiari malformation, Syrin...	ORPHA:955
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Lumbar hyperlordosis, Kyphoscoliosis, Dysplastic corpus callosum, Hemivertebrae...	ORPHA:500150
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Cerebral calcification, Short neck, Hydrocephalus, Lumbar kyphosis, Thoraci...	ORPHA:505248
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Oeis Complex	Absence of the sacrum, Tethered cord, Myelomeningocele, Hydrocephalus, Hemivertebrae, Sacral segm...	OMIM:258040
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
Wiedemann-Rautenstrauch Syndrome	Ataxia, Irregular sclerotic endplates, Kyphoscoliosis, Action tremor, Tremor, Hydrocephalus, Chia...	ORPHA:3455
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Speech apraxia, Ataxia, Kyphoscoliosis, Dysplastic corpus callosum, Chiari type I malformation, P...	ORPHA:466791
Icf Syndrome	Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Fanconi Anemia, Complementation Group L	Hydrocephalus, Hypoplastic sacrum, Cerebellar hypoplasia, Short neck	OMIM:614083
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Raine Syndrome	Hydrocephalus, Cerebral calcification, Short neck, Microcephaly	OMIM:259775
Hajdu-Cheney Syndrome	Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodies, Cervical instability, Bi...	OMIM:102500
Mend Syndrome	Sacral dimple, Kyphosis, Hydrocephalus, Hypertonia, Dandy-Walker malformation	OMIM:300960
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Microcephaly, Tremor, Basal ganglia calcification, Kyphosis, Cerebral...	OMIM:216400
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Wide anterior fontanel, Vocal cord paralysis...	ORPHA:798
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Microcephaly, Tremor, Basal ganglia calcification, Kyphosis, C...	OMIM:133540
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, P...	OMIM:619841
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydrocephalus, Cerebellar hypoplasia, Microcephaly	ORPHA:163979
Wiedemann-Rautenstrauch Syndrome	Short neck, Hydrocephalus, Hypertonia, Chiari malformation, Scoliosis, Truncal ataxia, Agenesis o...	OMIM:264090
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Severe hydrocephalus, Agenesis...	OMIM:236680
Osteootohepatoenteric Syndrome	Hydrocephalus	OMIM:619377
Wilson Disease	Poor motor coordination, Tremor, Rigidity, Hand tremor, Face of the giant panda sign, Abnormality...	OMIM:277900
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma	ORPHA:44890
Isotretinoin-Like Syndrome	Hydrocephalus, Microcephaly	ORPHA:2306
Gitelman Syndrome	Ataxia, Paralysis	OMIM:263800
Dextrocardia	Hydrocephalus	ORPHA:1666
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Wide anterior fontanel, Hydrocephalus, Chiari malformation, Scoliosis, Abnormal vertebral morphology	ORPHA:95699
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Absent septum pellucidum, Microcephaly, Hydrocephalus, Agenesis of corpus callosum	ORPHA:2556
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormality of the vertebral column...	ORPHA:228123
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Costello Syndrome	Short neck, Wide anterior fontanel, Hydrocephalus, Cerebral atrophy, Chiari type I malformation, ...	OMIM:218040
Fetal Akinesia Deformation Sequence 1	Absent septum pellucidum, Short neck, Hydrocephalus, Cerebellar hypoplasia, Short umbilical cord,...	OMIM:208150
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
H Syndrome	Hydrocephalus	ORPHA:168569
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Wide anterior fontanel, Hydrocephalus, Platyspondyly,...	OMIM:612289
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Yunis-Varon Syndrome	Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the frontal lobes, Primary microcephaly, Pach...	ORPHA:3472
Cryptococcosis	Hydrocephalus, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Pachygyria, Wide anterior fontanel, Hydrocephalus, Leukoencephalopathy, Lateral ven...	OMIM:607872
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly	OMIM:618188
Gaucher Disease	Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyramidal motor functi...	ORPHA:355
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Basal ganglia calcification, Cerebral calcification	OMIM:259730
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Sacral dimple, Microcephaly, Hydrocephalus, Scoliosis	ORPHA:261337
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cerebellar cortical atrophy, Hydrocephalus, Microcephaly	OMIM:619321
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Hydrocephalus, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Po...	ORPHA:3042
Fraser Syndrome 3	Hydrocephalus	OMIM:617667
Tetrasomy 9P	Sacral dimple, Short neck, Hydrocephalus, Abnormal spinal cord morphology, Lissencephaly, Umbilic...	ORPHA:3310
Fraser Syndrome 1	Encephalocele, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Myelomeningocele	OMIM:219000
Kabuki Syndrome 1	Microcephaly, Hydrocephalus, Lateral ventricle dilatation, Scoliosis, Abnormal vertebral morphology	OMIM:147920
Peters-Plus Syndrome	Microcephaly, Short neck, Wide anterior fontanel, Hydrocephalus, Hemivertebrae, Cerebral atrophy,...	OMIM:261540
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Hydrocephalus, Hemivertebrae, Branchial anomaly, Chiari...	OMIM:164210
Loeys-Dietz Syndrome 1	Hydrocephalus, Chiari malformation, Scoliosis, Cervical spine instability	OMIM:609192
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Hydrocephalus, Scoliosis, Hypoplasia of the ...	ORPHA:363700
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Gitelman Syndrome	Cerebral calcification, Paralysis	ORPHA:358
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Hydrocephalus, Vertebral segmentation defect, Scoliosis, Six lumbar...	OMIM:312870
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Witteveen-Kolk Syndrome	Branchial fistula, Poor motor coordination, Microcephaly, Dysplastic corpus callosum, Cortical dy...	OMIM:613406
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrophy, Lateral ventricle dilatation...	OMIM:619534
Pineoblastoma	Midline brain calcifications, Paralysis	ORPHA:251909
Microphthalmia With Limb Anomalies	Hydrocephalus, Abnormal form of the vertebral bodies	ORPHA:1106
Autosomal Recessive Malignant Osteopetrosis	Tremor, Hydrocephalus	ORPHA:667
Loeys-Dietz Syndrome 2	Hydrocephalus, Dural ectasia, Chiari malformation, Scoliosis, Umbilical hernia, Spondylolisthesis	OMIM:610168
Pseudoaminopterin Syndrome	Hydrocephalus, Sacrococcygeal pilonidal abnormality	ORPHA:221120
Coffin-Siris Syndrome 12	Microcephaly, Noncommunicating hydrocephalus, Chiari malformation, Hippocampal atrophy, Scoliosis...	OMIM:619325
Liver Disease, Severe Congenital	Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia	OMIM:619991
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Scoliosis	ORPHA:293987
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Umbilical hernia, Spinal cord comp...	ORPHA:580
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Cortical dysplasia, Cortical tubers, Subependymal nodules	ORPHA:805
Tyrosinemia, Type I	Periodic paralysis	OMIM:276700
Tetraamelia Syndrome 1	Hydrocephalus	OMIM:273395
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis	ORPHA:91347
Townes-Brocks Syndrome 1	Tethered cord, Microcephaly, Hydrocephalus, Holoprosencephaly, Umbilical hernia	OMIM:107480
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Frontal encephalocele, Short neck, Microcephaly	OMIM:268300
Weaver Syndrome	Scoliosis	ORPHA:3447

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Suz12

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Suz12.

No publications found that use IMPC mice or data for Suz12.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Suz12^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Suz12^{tm38183(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Suz12^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Suz12^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Suz12^{tm38183(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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