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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Imagawa-Matsumoto Syndrome
Polymicrogyria, Umbilical hernia, 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 Similarity of
phenotypes
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
Myofibromatosis, Fibroma OMIM:228550
Reticulum Cell Sarcoma
Sarcoma, Neoplasm 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
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... OMIM:604213
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Pontocerebellar atrophy, Tremor, Cerebellar hypoplasia, Hypoplasia of the corpus ... OMIM:618060
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, A... ORPHA:2703
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, H... OMIM:619302
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Tetraparesis, Polymicrogyria, Hypoplas... OMIM:610031
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Lissencephaly 5
Leukoencephalopathy, Cerebellar vermis hypoplasia, Spastic paraplegia, Occipital encephalocele, H... OMIM:615191
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Leukoencephalopathy, Hypoplasia of the corpus callosum, Babinski sign, Lower limb spasticity, Ata... OMIM:615281
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Chiari Malformation Type Ii
Cervical myelopathy, Chiari malformation, Myelomeningocele, Agenesis of corpus callosum, Syringom... OMIM:207950
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:614039
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Absence of the sacrum, Myelomeningocele, Hydrocephalus, Spina b... OMIM:182940
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Tetraparesis, Increased ... ORPHA:255182
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spin... OMIM:616602
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Tetraparesis, Dysp... OMIM:618276
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar... ORPHA:352682
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Hypo... OMIM:611603
Brachyolmia Type 2
Platyspondyly OMIM:613678
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology, Abnormal corpus callosum morphology, Ventriculomegaly, Microcephal... OMIM:618709
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cer... OMIM:618291
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly OMIM:615938
Hydrocephalus, Congenital, X-Linked
Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi... OMIM:307000
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Microcephaly, Lowe... OMIM:303350
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Hemiparesis, Agenesis of corpus callosum, Hydroc... OMIM:617542
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis OMIM:604416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
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, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Joubert Syndrome 13
Pachygyria, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Spasticity, Hypoplasia of the corpus cal... OMIM:304100
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc... ORPHA:2182
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:2807
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl... OMIM:618174
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr... ORPHA:1532
Acalvaria
Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida ORPHA:945
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricl... ORPHA:300573
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Cerebral calcification, Hemiplegia/hemiparesis, Hydrocephalus, Ataxia ORPHA:99966
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Age... OMIM:617090
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neuronal Intranuclear Inclusion Disease
Abnormal form of the vertebral bodies, Hypertonia, Ataxia, Spina bifida occulta, Scoliosis ORPHA:2289
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Microcephaly, Spina bifida, Spina bifida occulta, Scoliosis ORPHA:64754
Coach Syndrome 2
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Oculomotor apraxia, Hydrocephalus, Mol... OMIM:619111
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,... OMIM:613162
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Dysgenesis of the basal ganglia, Hypo... ORPHA:171680
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Band Heterotopia
Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... OMIM:600348
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Schmorl's node, Irregular vertebral endplates OMIM:604864
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ... ORPHA:370959
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Pineocytoma
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Abnormal vertebral morphology, Cerebral atrophy, Hypoplasia of the corpus callosum, Agenesis of c... ORPHA:166024
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Abnormal vertebral morphology, Abnormal corpus callosum morphology,... ORPHA:280195
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst... ORPHA:101070
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Huntington Disease-Like 1
Cerebral cortical atrophy, Ventriculomegaly, Involuntary movements, Cerebellar atrophy, Abnormal ... ORPHA:157941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Cerebellar d... OMIM:613155
Acrofacial Dysostosis, Catania Type
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Micro... OMIM:101805
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Abnormal cortical gyration, Upper lim... ORPHA:2524
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Tremor OMIM:611808
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple ORPHA:2064
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Limb h... ORPHA:99742
Sprengel Deformity
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae OMIM:184400
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Secondary microcephaly, Dy... OMIM:620317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, ... OMIM:615181
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at S1, Spina bifida occulta at L5 OMIM:102510
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617562
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Molar tooth si... OMIM:617622
Glut1 Deficiency Syndrome 1
Spasticity, Hypoglycorrhachia, Secondary microcephaly, Myoclonus, Hemiparesis, Babinski sign, Par... OMIM:606777
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis... OMIM:601344
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Microcephaly, Short neck, Hyperlordosis, Spina bifida occulta, Abn... ORPHA:1797
Fried Syndrome
Cerebral calcification, Abnormal cerebellum morphology, Hydrocephalus, Scoliosis, Spastic diplegia ORPHA:85335
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Chiari type II malformation, Abnormal odontoid process morphol... OMIM:613686
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hypoglycorrhachia, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Progressive mi... ORPHA:71277
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpu... OMIM:225790
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal si... ORPHA:363717
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Stxbp1-Related Encephalopathy
Spasticity, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia, Spastic te... ORPHA:599373
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased CSF lactate, Incoor... OMIM:616034
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Small basal ganglia, Hypoplasia of the corpus callosum, Par... OMIM:616286
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Joubert Syndrome 31
Ventriculomegaly, Hypoplasia of the corpus callosum, Oculomotor apraxia, Molar tooth sign on MRI,... OMIM:617761
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Alexander Disease
Increased CSF protein concentration, Spasticity, Dysmetria, Abnormal dentate nucleus morphology, ... OMIM:203450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocephalus, Spastic tetra... OMIM:619470
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Hemiplegia/hemiparesis, Cervical C2/C3 vertebral fusion, Sho... ORPHA:2345
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:616781
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Molar tooth sign o... OMIM:611134
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Babinski sign, Hydrocephalus, Ataxia ORPHA:73256
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Adult Krabbe Disease
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... ORPHA:206448
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Rhizomelic Chondrodysplasia Punctata
Spina bifida occulta, Scoliosis, Microcephaly ORPHA:177
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Hypoplasia of the pons, Increased CSF la... ORPHA:500144
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Abnormality of extrapyramidal motor function, Microcephaly, Abnormal pyramidal ... OMIM:300884
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Babinski... OMIM:615599
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Spasticity, Lateral ventricle dilatation, Cavum septum pel... ORPHA:96148
Congenital Hydrocephalus
Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus,... ORPHA:2185
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis OMIM:614034
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Caudal Duplication
Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Spinal cord lesion, Spina bifida, ... ORPHA:1756
Dystonia 31
Parkinsonism, Abnormal posturing OMIM:619565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... OMIM:615249
Microhydranencephaly
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cere... OMIM:605013
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... OMIM:105500
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta ORPHA:1514
Joubert Syndrome 18
Occipital encephalocele, Kyphoscoliosis, Agenesis of corpus callosum, Molar tooth sign on MRI, Ag... OMIM:614815
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Hypoplasia of the brainstem, Kyphoscoliosis, Microcephaly, Short neck, Spina ... OMIM:193700
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Small cerebral cortex, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Agenesis ... OMIM:617360
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy... ORPHA:255138
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum,... ORPHA:220497
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Umbilical hernia, Vertebral segmentation defect, Microceph... ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Babinski... ORPHA:397951
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... OMIM:243150
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Gait ataxia, Microcephaly OMIM:268850
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Cerebellar malformation, Hydroc... ORPHA:324416
Isotretinoin Syndrome
Spina bifida occulta, Sacral dimple ORPHA:2305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Encep... OMIM:613150
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276241
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebral calcification, CSF l... OMIM:610333
Fountain Syndrome
Abnormal form of the vertebral bodies, Spina bifida, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:3219
Joubert Syndrome 16
Oculomotor apraxia, Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI OMIM:614465
Czeizel-Losonci Syndrome
Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Tremo... ORPHA:220493
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... OMIM:611560
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276244
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Aplasia/Hypoplasia of the cerebellum ORPHA:1185
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Schisis Association
Microcephaly, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Lymphopenia, Leukopenia, Thrombocytosis OMIM:615934
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Microcephaly, Spastic tetraplegia,... OMIM:252650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hypoplasia of the brainstem, Type II lissencephaly, Agyria, Polymicrogyria, Encephalocele, Agenes... OMIM:253800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cerebral cortex morphology, Abnormal bra... ORPHA:163961
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Aplasi... ORPHA:1908
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Tremor, Babinski sign, Hyperlordosis, Tort... OMIM:128100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Hydromyelia, Occipital encephalocele, Spasticity, Hypoplasia of the brainstem, ... OMIM:615287
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebral palsy, Hypoplasia of the brainstem, Appendicular spasticit... OMIM:620001
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Babinski sign, Abnormal spinal cord morphology, Hydrocephalus, Voca... ORPHA:99947
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta, Short neck, Scoliosis, Abnormal form of the vertebral bodies ORPHA:1787
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Ventriculomegaly, Spasticity, Spastic paraplegia, Hypoplasia of the pons, ... OMIM:614969
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Thicken... OMIM:609583
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Cerebellar atrophy, Hydrocephalus, Periventricular leukomalacia OMIM:618302
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Short neck, Spina bifida OMIM:620439
Three M Syndrome 1
Spina bifida occulta, Short neck, Increased vertebral height, Hyperlordosis OMIM:273750
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cer... OMIM:616900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... OMIM:613154
Primary Angiitis Of The Central Nervous System
Abnormal CSF protein concentration, Recurrent subcortical infarcts, Tetraparesis, Hemiparesis, Pa... ORPHA:140989
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... OMIM:618577
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Joubert Syndrome 15
Exencephaly, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:614464
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Increased CSF lactate, Paralysis OMIM:613710
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Thrombocytosis OMIM:226300
Joubert Syndrome 9
Ventriculomegaly, Encephalocele, Oculomotor apraxia, Molar tooth sign on MRI, Scoliosis OMIM:612285
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Microcephaly, Spina bifida, Sacral dimple ORPHA:1327
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Ventriculomegaly, Spasticity, Kyphosis, Cerebral calcifi... OMIM:618476
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis ORPHA:729
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Lumbar hyperlordosis, Back pain OMIM:169550
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis OMIM:236660
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypertonia ORPHA:250994
Distal 7Q11.23 Microduplication Syndrome
Chiari malformation, Hydrocephalus, Frontal encephalocele ORPHA:261102
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Joubert Syndrome 14
Ataxia, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Encephalocele, Hypoplasia of t... OMIM:614424
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog... ORPHA:300570
Familial Thrombocytosis
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis ORPHA:71493
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Vertebral segmentation defect, Micr... ORPHA:1926
L1 Syndrome
Aqueductal stenosis, Spasticity, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:275543
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor OMIM:304700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Developmental And Epileptic Encephalopathy 49
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Facial-lingual fasciculations, Basal ... OMIM:617281
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... OMIM:614219
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Carpenter Syndrome 1
Cerebral atrophy, Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Short neck, Spina ... OMIM:201000
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I m... OMIM:218350
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Oculomotor apraxia, Molar tooth sig... OMIM:615665
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220220
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Spondylolisthesis OMIM:617877
Subependymal Nodular Heterotopia
Occipital encephalocele, Limb myoclonus, Focal cortical dysplasia, Polymicrogyria, Myelomeningoce... ORPHA:101030
Japanese Encephalitis
Opisthotonus, Paucity of anterior horn motor neurons, Cerebral edema, Choreoathetosis, Abnormal m... ORPHA:79139
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy,... ORPHA:356961
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Type II lissencephaly, Polymicrogyr... OMIM:614643
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Spasticity, Basal ganglia calcification, Cerebral... OMIM:304340
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Joubert Syndrome 32
Polymicrogyria, Abnormal cerebellum morphology, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617757
Aicardi Syndrome
Cerebellar vermis hypoplasia, Block vertebrae, Dilated third ventricle, Chiari malformation, Late... OMIM:304050
Joubert Syndrome 2
Ataxia, Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Dysgenesis of the ... OMIM:608091
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... OMIM:620156
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Spasticity, Secondary microcephaly, Cerebellar malformation, Dilate... ORPHA:357058
Acrocraniofacial Dysostosis
Spina bifida occulta, Microcephaly, Abnormal form of the vertebral bodies ORPHA:949
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Meningoc... ORPHA:588
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis ORPHA:134
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Microcephaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum ORPHA:1496
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus ca... OMIM:614833
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Houge-Janssens Syndrome 2
Ventriculomegaly, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Mi... OMIM:616362
Neu-Laxova Syndrome 2
Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Short neck, Spina bifida, Scoliosis, Lisse... OMIM:616038
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Iniencephaly
Lissencephaly, Spinal dysraphism, Absent vertebra, Myelomeningocele, Encephalocele, Syringomyelia... ORPHA:63259
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Abnormal odontoid process morphology, Encephalocele, Agenesis of co... ORPHA:314621
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Van Esch-O'Driscoll Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Unilateral vocal cord paralysis, Microcephaly, ... OMIM:301030
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Spina bifida occulta, Butterfly vertebrae, Microcephaly, Fused cervical vertebrae OMIM:619227
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Scoliosis OMIM:605285
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila... OMIM:610688
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Absent septum pellucidum, Microce... OMIM:619895
Neu-Laxova Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Cerebral calcificati... ORPHA:2671
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Cerebral calcification, Scoliosis, Hyperlordosis ORPHA:2780
Meckel Syndrome, Type 10
Occipital encephalocele, Sacral dimple, Dilated fourth ventricle, Cerebellar hypoplasia, Molar to... OMIM:614175
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Dysplastic corpus callo... OMIM:151050
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Spasticity, Chorea, Cerebral calcification, Oculomot... ORPHA:2770
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Hydroceph... ORPHA:2318
Autosomal Spastic Paraplegia Type 58
Erratic myoclonus, Spasticity, Cerebellar atrophy, Cerebral atrophy, Frequent falls, Fasciculatio... ORPHA:397946
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Leukopenia, Leukocytosis, Thrombocytosis ORPHA:20
Kleeblattschaedel
Hydrocephalus OMIM:148800
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Ce... OMIM:236670
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Hypochromic anemia, Leukocytosis, Thrombocytosis OMIM:618213
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Anophthalmia Plus Syndrome
Spina bifida, Vertebral segmentation defect ORPHA:1104
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Horner Syndrome, Congenital
Paralysis OMIM:143000
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Hemiplegia, Cho... ORPHA:225147
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Microcephaly ORPHA:1786
Alagille Syndrome
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... ORPHA:52
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hypoplasia of the corpus callosum, Short neck, Hydrocephalus, Sacral dimple ORPHA:1516
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Isolated Posterior Meningocele
Hydromyelia, Chiari malformation, Thoracic hemivertebrae, Paraplegia, Hydrocephalus, Lipomyelomen... ORPHA:268810
Pelvis-Shoulder Dysplasia
Hydranencephaly, Abnormal form of the vertebral bodies, Lumbar hyperlordosis, Prominent protrudin... ORPHA:2839
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Thrombocyt... OMIM:615688
Knobloch Syndrome 1
Ventriculomegaly, Cerebellar atrophy, Occipital encephalocele, Cerebral atrophy, Polymicrogyria, ... OMIM:267750
Vacterl With Hydrocephalus
Absence of the sacrum, Abnormal form of the vertebral bodies, Hydrocephalus, Spina bifida, Hemive... ORPHA:3412
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Al-Gazali-Bakalinova Syndrome
Short neck, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus, Megalencephaly, Thick corpus callosum OMIM:248000
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Abnormal posturing, Eye of the tiger anomaly of globus pallidus, Opisthotonus, Freque... ORPHA:216866
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251915
Alkuraya-Kucinskas Syndrome
Lissencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus ca... OMIM:617822
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Chiari type I malformation, Microcepha... OMIM:620157
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... ORPHA:397715
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Umbilical hernia, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... OMIM:175700
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Ankle clonus, Diffuse cerebral atrophy, Microcephaly, Short neck, Hydrocephalus... OMIM:613776
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callo... OMIM:300373
Pallister-Hall-Like Syndrome
Occipital encephalocele, Chiari type I malformation, Microcephaly, Hypothalamic hamartoma, Hydroc... OMIM:241800
Autosomal Recessive Multiple Pterygium Syndrome
Umbilical hernia, Vertebral segmentation defect, Microcephaly, Spina bifida occulta, Scoliosis ORPHA:2990
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Ventriculomegaly, Spina bifida, Vertebral segmentation defect ORPHA:1120
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular white matter hyperintensities, Tremor, Hemiparesis, Dyspl... OMIM:619737
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Chiari malformation, Cerebral atrophy, Umbilical hernia, Abnormal septum pellucidum morphology, H... ORPHA:171839
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Aqueductal stenosis, Abnormality of the vertebral column, Hydrocep... OMIM:276950
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Joubert Syndrome 33
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617767
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Waardenburg Syndrome Type 1
Meningocele, Scoliosis, Spina bifida ORPHA:894
Poems Syndrome
Splenomegaly, Polycythemia, Thrombocytosis ORPHA:2905
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Unilateral vocal cord paresis, Spinal dysraphism, Butterfly vertebrae, Mic... OMIM:617660
Limb Body Wall Complex
Progressive congenital scoliosis, Abnormality of the vertebral column, Myelomeningocele, Encephal... ORPHA:2369
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Dubowitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Sacral dimple, Microcephaly, Hydrocephalus, Spina bifi... ORPHA:235
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri... OMIM:615960
Hemangioblastoma
Spinal hemangioblastoma, Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma ORPHA:252054
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormality of the vertebral column, Hydrocephalus, Agenesis of corpus callosum OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 39
Thin corpus callosum, Hydrocephalus, Cerebral atrophy OMIM:616521
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pachygyria, Spina bifida occulta, Scoliosis, Umbilical hernia OMIM:235510
Joubert Syndrome 27
Oculomotor apraxia, Gait ataxia, Molar tooth sign on MRI, Ataxia OMIM:617120
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Megalencephaly OMIM:602501
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Polymicrogyria ORPHA:83473
Variegate Porphyria
Paralysis OMIM:176200
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Cerebral palsy, Periventricular leukomalacia, Microcephaly, Colpocephaly, Hydro... OMIM:619833
Anal Fistula
Leukocytosis ORPHA:228113
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Spastic tetraplegia, Hydrocephalus, Kyphoscoliosis OMIM:300886
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Umbilical hernia, Incoordination, Vertebral... ORPHA:261318
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Dworschak-Punetha Neurodevelopmental Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Short neck, Colpocephaly OMIM:619955
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI OMIM:619582
3Mc Syndrome
Caudal appendage, Umbilical hernia, Prominent coccyx, Hyperlordosis, Spina bifida occulta, Scoliosis ORPHA:293843
Krabbe Disease
Increased CSF protein concentration, Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decereb... OMIM:245200
Incontinentia Pigmenti
Cerebral cortical atrophy, Spasticity, Umbilical hernia, Hemiplegia/hemiparesis, Spina bifida occ... ORPHA:464
Cleidocranial Dysplasia
Spina bifida occulta, Abnormal sacrum morphology, Scoliosis ORPHA:1452
Alexander Disease
Spasticity, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Short neck, Abno... ORPHA:58
Melanosis, Neurocutaneous
Syringomyelia, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Joubert Syndrome 28
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617121
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Occi... OMIM:616546
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral a... OMIM:272200
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hypoplasia of the brainstem, Microcephaly, Abnormal cerebral white matter morph... ORPHA:2169
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Duane Retraction Syndrome
Blepharospasm, Abnormal form of the vertebral bodies, Microcephaly, Short neck, Oculomotor apraxi... ORPHA:233
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Cerebral calcification, Porencephalic cyst, Microcephaly, Spin... ORPHA:1393
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... OMIM:615219
Walker-Warburg Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Absent septum pelluc... ORPHA:899
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Chorea, ... ORPHA:25
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis OMIM:614198
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Butterfly vertebrae, Back pain, Kyphoscoliosis, Microcephaly, Short neck, Hydrocephalus, Thoracic... OMIM:613330
Congenital Toxoplasmosis
Microcephaly, Ventriculomegaly, Cerebral calcification, Hydrocephalus ORPHA:858
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, A... ORPHA:2720
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Chiari malformation, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum,... ORPHA:93262
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Joubert Syndrome
Cerebellar vermis hypoplasia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the co... ORPHA:475
Even-Plus Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum, Short neck, Vertebral clefting, Coronal ... OMIM:616854
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, Hemiplegia, Hydrocephalus, Scoliosis, Kyphosis ORPHA:2181
Glutaric Acidemia I
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Choreoathetosis, Spastic dip... OMIM:231670
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Ventriculomegaly, Thoracic hemivertebrae, Thoracic kyphosis, Periventricular leukomalacia, Hypopl... ORPHA:508498
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:272
Trisomy 18
Chiari malformation, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spina bifida, Hyper... ORPHA:3380
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Increased CSF protein concentration, Abnormal medulla oblongata mor... ORPHA:68
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Thoracic scoliosis, Hydrocep... OMIM:603387
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Oculomotor apraxia, Molar t... OMIM:618161
Joubert Syndrome 8
Ataxia, Occipital encephalocele, Oculomotor apraxia, Hypertonia, Molar tooth sign on MRI OMIM:612291
Larsen Syndrome
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Beaking of vertebral bodies, Sp... OMIM:150250
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Speech apraxia, Hypoplasia of the corpus callosum... OMIM:609757
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Glioblastoma
Abnormal corpus callosum morphology, Paralysis, Abnormal cerebral white matter morphology, Cerebr... ORPHA:360
Joubert Syndrome 20
Oculomotor apraxia, Molar tooth sign on MRI OMIM:614970
Peho Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Microcephaly, Hydrocephalus, Atr... ORPHA:2836
Mosaic Trisomy 9
Ventriculomegaly, Microcephaly, Short neck, Spina bifida, Hemivertebrae, Scoliosis, Dandy-Walker ... ORPHA:99776
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar verm... OMIM:213300
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Microcephaly 26, Primary, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Hypoplasia of the corpus callosum... OMIM:619179
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal in... ORPHA:2635
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Sple... OMIM:612840
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Agenesis of corpus callosum, Hydrocephalus, Hemivertebrae, Holopro... ORPHA:77298
Arnold-Chiari Malformation Type I
Myelopathy, Brain stem compression, Gait ataxia, Chiari type I malformation, Syringomyelia, Babin... ORPHA:268882
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Brucellosis
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,... ORPHA:1304
Arachnoid Cyst
Enlarged fossa interpeduncularis, Chiari malformation, Sciatica, Tetraparesis, Posterior fossa cy... ORPHA:2356
Duane-Radial Ray Syndrome
Spina bifida occulta, Scoliosis, Fused cervical vertebrae OMIM:607323
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Dural ectasia, Cervical spinal canal stenosis, Speech apraxia, Spondylolisthesi... ORPHA:363958
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha... OMIM:613001
Coach Syndrome 3
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:619113
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Lumbar hyperlordosis, Hypoplasia of the corpus callosum, Oculomotor... OMIM:619185
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Oculomotor apraxia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Joubert Syndrome 10
Dysmetria, Cerebellar vermis hypoplasia, Microcephaly, Molar tooth sign on MRI OMIM:300804
Basal Cell Nevus Syndrome 1
Vertebral wedging, Calcification of falx cerebri, Kyphoscoliosis, Hydrocephalus, Spina bifida, He... OMIM:109400
47,Xyy Syndrome
Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydroce... ORPHA:8
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Increased CSF lactate, Hypertonia OMIM:604273
Hydrolethalus
Absent septum pellucidum, Anencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Trichohepatoenteric Syndrome 1
Thrombocytosis, Splenomegaly, Increased mean platelet volume OMIM:222470
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Microcephaly, Hydrocephalus OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Clumsiness, Noncommunicating hydrocephalus, Agenesis of corpus callosum OMIM:619320
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Torticollis, Partial agenesis of the corpus callosum, Thin corpus callosum, Scolios... OMIM:619480
3Mc Syndrome 1
Caudal appendage, Sacral dimple, Microcephaly, Spina bifida occulta, Wide anterior fontanel OMIM:257920
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary microcephaly, Dilated fourth... OMIM:619306
Noonan Syndrome With Multiple Lentigines
Spina bifida occulta, Scoliosis ORPHA:500
Coach Syndrome 1
Cerebellar vermis hypoplasia, Spasticity, Occipital encephalocele, Encephalocele, Oculomotor apra... OMIM:216360
Thanatophoric Dysplasia Type 2
Platyspondyly, Ventriculomegaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Kyphosis ORPHA:93274
Baller-Gerold Syndrome
Abnormal vertebral morphology, Chiari malformation, Polymicrogyria, Agenesis of corpus callosum, ... OMIM:218600
Townes-Brocks Syndrome 2
Spina bifida occulta, Scoliosis OMIM:617466
Rubinstein-Taybi Syndrome 1
Incoordination, Agenesis of corpus callosum, Microcephaly, Hyperintensity of cerebral white matte... OMIM:180849
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy OMIM:614857
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Hemiplegia/hemipares... ORPHA:1647
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Short neck, Hydrocephalus, Punctate vertebral calcifications ORPHA:1914
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...