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
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 Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Thrombocythemia 3
Thrombocytosis OMIM:614521
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
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency 40
Lymphopenia OMIM:616433
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar h... OMIM:604213
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Hydrocephalus, S... ORPHA:2703
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation, Scoliosis, Spina bifida occ... OMIM:618736
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Lower limb spasticity, Ataxia, Tethered cord, Hypoplasia of the corpus callosum, Spina bifida occ... OMIM:615281
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Spastic paraplegia, Subcortical band ... OMIM:615191
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Pontocerebellar atrophy, Cerebellar hy... OMIM:618060
Neural Tube Defects, Susceptibility To
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... OMIM:182940
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Abnormal vertebral morphology, Ataxia, Ventriculomegaly, Mic... OMIM:618709
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Cerebellar hypoplasia, Dysgyria, Hypoplasia of the brainstem, Hydrocepha... ORPHA:352682
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Spastic tetraplegia, Ataxia, Ventriculomegaly, Hypoplasia of... OMIM:611603
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Spasticity, Hydrocep... OMIM:600348
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Hypoplasia of the brains... OMIM:619302
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Ataxia, Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:99966
Craniosynostosis 6
Abnormal corpus callosum morphology, Cerebellar atrophy, Agenesis of corpus callosum, Microcephal... OMIM:616602
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypoplasia of the brainstem, Micr... OMIM:614039
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Tetraparesis, Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnor... ORPHA:255182
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Brachyolmia Type 2
Platyspondyly OMIM:613678
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Masa Syndrome
Kyphosis, Agenesis of corpus callosum, Hyperlordosis, Spastic paraplegia, Lower limb spasticity, ... OMIM:303350
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Agenesis of corpus callosum, Opisthotonus, Ataxia, Chiari malfor... OMIM:207950
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Spastic paraplegia, Spasticity, Hydr... OMIM:307000
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae, Rib fusion OMIM:608681
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis OMIM:604416
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Corpus Callosum, Partial Agenesis Of, X-Linked
Cerebellar hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Spasticity, Hydroce... OMIM:304100
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Microcephaly, Spina bifida, Scoliosis, Spina bifida occulta ORPHA:64754
Alexander Disease
Spasticity, Ataxia, Increased CSF protein, Hydrocephalus OMIM:203450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Vent... OMIM:613153
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Hypoplasia... OMIM:225790
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Brachyolmia, Maroteaux Type
Scoliosis, Abnormal form of the vertebral bodies, Platyspondyly ORPHA:93302
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Abnormal pyramidal sign, Cerebellar dysplasia, Abnormal cerebellum morph... ORPHA:101070
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia OMIM:209950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Hypoplasia of ... OMIM:613154
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Holoprosencephaly, Spasticity, Hydrocephalus, Absent septum pellucid... ORPHA:2182
Papilloma Of Choroid Plexus
Hypertonia, Hemiplegia/hemiparesis, Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Spastic paraplegia, Hypoplasia o... OMIM:613162
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tetraparesis, Dysplastic corpus callosum, Cerebellar atrophy, Ataxia, Microcephaly, Tongue fascic... OMIM:618276
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem... OMIM:617090
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Schmorl's node, Beaking of vertebral bodies, Platyspondyly OMIM:604864
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Abnormality of the basal ganglia,... ORPHA:157941
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Abnormal cerebellum morphology, Ataxia, Hydrocephalus, Cerebellar ... ORPHA:1532
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Scoliosis, Cerebral cortical atrophy... OMIM:617669
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus OMIM:183802
Craniofacial Conodysplasia
Spinal cord compression, Hydrocephalus ORPHA:85168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Ventric... OMIM:615287
Developmental And Epileptic Encephalopathy 36
Cerebral atrophy, Abnormal pyramidal sign, Microcephaly, Hydrocephalus, Abnormality of extrapyram... OMIM:300884
Fried Syndrome
Cerebral calcification, Abnormal cerebellum morphology, Scoliosis, Hydrocephalus, Spastic diplegia ORPHA:85335
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Neuronal Intranuclear Inclusion Disease
Abnormal form of the vertebral bodies, Ataxia, Scoliosis, Spina bifida occulta, Hypertonia ORPHA:2289
Coach Syndrome 2
Agenesis of corpus callosum, Molar tooth sign on MRI, Hydrocephalus, Oculomotor apraxia, Cerebell... OMIM:619111
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Abnormality of the spinocerebellar tracts, Kinetic tremor, Parkinsoni... ORPHA:98756
Acrofacial Dysostosis, Catania Type
Microcephaly, Spina bifida occulta OMIM:101805
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Paralysis, Hypoplasia of the corpus callosum, Small basal g... OMIM:616286
Amish Lethal Microcephaly
Agenesis of corpus callosum, Limb hypertonia, Ventriculomegaly, Microcephaly, Lissencephaly, Spin... ORPHA:99742
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Joubert Syndrome 31
Molar tooth sign on MRI, Oculomotor apraxia, Ventriculomegaly, Hypoplasia of the corpus callosum,... OMIM:617761
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar hypoplasia, Hypoplasia of the brainstem, Microcephaly, Clonus, Type II lissencephaly, ... ORPHA:370959
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Achondroplasia
Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosis, Brain stem compressio... OMIM:100800
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Hypoglycorrhachia, Ataxia, Spasticity, Hemiparesis, Secondary microce... OMIM:606777
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Abnormal vertebral morpho... ORPHA:166024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Pineocytoma
Episodic ataxia, Increased CSF protein, Hydrocephalus ORPHA:251912
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Short neck, Hyperlordosis, Microcephaly, Scoliosis, Spina bifida occu... ORPHA:1797
Neural Tube Defects, X-Linked
Anencephaly, Spina bifida OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Microcephaly, Dandy-Walker malformation, Spasticity, Hy... OMIM:617281
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the vertebral bodies ORPHA:2064
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainste... ORPHA:250972
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Polym... ORPHA:171703
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina b... OMIM:613686
Gluteal Muscles, Absence Of
Spina bifida occulta, Scoliosis OMIM:231970
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Microcephaly, Spast... OMIM:615599
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Choreoathetosis, Ventriculomegaly, Gait... OMIM:304340
Sprengel Deformity
Spina bifida occulta, Cervical segmentation defect, Scoliosis, Hemivertebrae OMIM:184400
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular white matter hyperi... OMIM:619470
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Hydrocephalus OMIM:123155
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Syringomyelia, Agenesis of corpus callosum, Opisthotonus, Ataxia, Ventriculomeg... ORPHA:1136
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly, Tremor OMIM:611808
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Anencephaly, Microcephaly, Dandy-Walk... OMIM:611134
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Progressive microcephaly, Choreoathetosis, Hypoglycorrhachi... ORPHA:71277
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Ataxia, Oculomotor apraxia OMIM:617562
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Cerebellar hypoplasia, Unilateral vocal cord paralysis, Microcephaly, Scoliosis... OMIM:301030
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Spinal dysplasia, Abse... OMIM:601344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus OMIM:614830
Adult Krabbe Disease
Tetraparesis, Abnormal pons morphology, Abnormal corpus callosum morphology, Frequent falls, Incr... ORPHA:206448
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Choreoathetosis... ORPHA:2524
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Rhizomelic Chondrodysplasia Punctata
Microcephaly, Scoliosis, Spina bifida occulta ORPHA:177
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Cerebral atrophy, Abnormal pyramidal sign, Hypoplasia of the corpus callosum, Spas... ORPHA:397951
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Aplasia/Hypoplasia of the cerebellar vermis, Dilation of lateral ventricles, Agenesis of corpus c... OMIM:300864
Acrofacial Dysostosis, Palagonia Type
Hypoplasia of the odontoid process, Abnormal vertebral morphology, Spina bifida occulta at S1, Sc... OMIM:601829
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Type II lissencephaly, Cerebellar malfo... ORPHA:324416
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Ataxia, Platys... OMIM:618476
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation, Agenesis of cerebella... ORPHA:163961
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Ataxia, Hypoplasia of the brainstem... OMIM:611560
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Cerebellar atrophy, Progressive microcephaly, Ventricul... OMIM:610333
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Cerebellar atrophy, Periventricular leukomalacia, Hydrocephalus OMIM:618302
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, Asplenia OMIM:614034
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Short neck, Hypoplasia of the brainstem, Microcephaly, Scoliosis, Spina bifid... OMIM:193700
Microhydranencephaly
Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Hydranencephaly, Athetos... OMIM:605013
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Micro... ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Hypoplasia ... OMIM:615249
Richieri-Costa/Guion-Almeida Syndrome
Microcephaly, Spina bifida occulta, Gait ataxia OMIM:268850
Central Neurocytoma
Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Hydrocephalus, Babinski sign ORPHA:73256
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Abnormal brainstem morphology, Dilated fourth ventricle, Cerebellar cyst, I... ORPHA:370022
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Distal Monosomy 10Q
Cavum septum pellucidum, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Ataxia, Mi... ORPHA:96148
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:616781
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Corticospinal tract hypoplasia, Cerebellar hy... ORPHA:255138
Dystonia 31
Parkinsonism, Abnormal posturing OMIM:619565
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies OMIM:613982
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Joubert Syndrome With Renal Defect
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia, Scoli... ORPHA:220497
Machado-Joseph Disease Type 1
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Degeneration of the striatum, Cerebe... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormal pyramidal sign, Spinocerebellar tract degeneration, Degeneration of the striatum, Cerebe... ORPHA:276241
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta ORPHA:1514
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Vocal cord paralysis... ORPHA:500144
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis OMIM:309620
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Schisis Association
Microcephaly, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, P... ORPHA:101030
Primary Angiitis Of The Central Nervous System
Tetraparesis, Abnormal CSF protein level, Paralysis, Parkinsonism, Ataxia, Paraparesis, CSF pleoc... ORPHA:140989
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of the s... ORPHA:276244
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Agenesis of corpus callosum, Cerebellar cyst, Cerebellar hypoplasia, Ventri... OMIM:613150
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Sacral dimple OMIM:614175
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia, Oculomotor apraxia, Polymicrogyria OMIM:617757
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Spina bifida, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Dandy-Walker malformation, Agenesis of cerebellar vermis, Partial absen... OMIM:220220
Joubert Syndrome 22
Molar tooth sign on MRI, Temporal cortical atrophy, Agenesis of cerebellar vermis, Hypoplasia of ... OMIM:615665
Isotretinoin Syndrome
Spina bifida occulta, Sacral dimple ORPHA:2305
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Joubert Syndrome 16
Dandy-Walker malformation, Oculomotor apraxia, Molar tooth sign on MRI, Encephalocele OMIM:614465
Fountain Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Spina bifida, Scoliosis, Spina bifida occulta ORPHA:3219
Hypertelorism And Tetralogy Of Fallot
Spina bifida occulta OMIM:239711
Joubert Syndrome With Ocular Defect
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Abnormal vert... ORPHA:220493
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Scoliosis, Short neck, Fused cervical vertebrae OMIM:214300
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Spinal dysraphism, Hydrocep... ORPHA:1908
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Aplasia/Hypoplasia of the cerebellum ORPHA:1185
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Cerebellar atrophy, Spastic tetraplegia, Mic... OMIM:252650
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy, Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Type II liss... ORPHA:300570
White Forelock With Malformations
Spina bifida occulta ORPHA:2475
Czeizel-Losonci Syndrome
Myelomeningocele, Thoracolumbar scoliosis, Spina bifida, Hydrocephalus, Spina bifida occulta ORPHA:2437
Joubert Syndrome 2
Abnormal corpus callosum morphology, Thickened superior cerebellar peduncle, Enlarged fossa inter... OMIM:608091
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dilated fourth ventricle, Dandy-Walker malformation, Agenesis of cerebellar vermis, Partial absen... OMIM:220219
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia, Perisylvian polymicrogyria, Ventriculomegaly, Cerebe... OMIM:616531
Disorder Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Kyphosis, Short neck ORPHA:2983
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele, Lissencephaly, Absent ... OMIM:218670
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta ORPHA:230839
Nasu-Hakola Disease
Cerebral calcification, Ventriculomegaly, Spasticity, Cerebral cortical atrophy, Chorea, Hydrocep... ORPHA:2770
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Japanese Encephalitis
Opisthotonus, Cogwheel rigidity, CSF pleocytosis, Respiratory paralysis, Abnormality of extrapyra... ORPHA:79139
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis, Parkinsonism OMIM:105500
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, At... OMIM:609583
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta, Scoliosis, Short neck, Abnormal form of the vertebral bodies ORPHA:1787
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Hypoplasia of the pyramidal tract, Agenesis of corpus callosum, Cerebellar cyst, Cerebell... OMIM:253800
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Short neck, Agenesis of corpus callosum OMIM:607131
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Frequent falls, Hand tremor, Vocal cord paralysis, Scoliosis, Abnormality of the spinal cord, Hyd... ORPHA:99947
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Increased CSF lactate OMIM:613710
Diabetic Embryopathy
Abnormal sacrum morphology, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spinal dysra... ORPHA:1926
Three M Syndrome 1
Spina bifida occulta, Hyperlordosis, Short neck, Increased vertebral height OMIM:273750
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Ventriculomegaly, Dandy-Walker malformation, Superio... OMIM:617622
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Ataxia, Scoliosis, Hydrocepha... ORPHA:2318
Joubert Syndrome 9
Molar tooth sign on MRI, Ventriculomegaly, Scoliosis, Oculomotor apraxia, Encephalocele OMIM:612285
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation, Cereb... OMIM:616900
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Hydrocephalus OMIM:236660
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Abnormal brainstem morphology, Ataxia, Hydrocephalus, Aplasia/Hy... ORPHA:2720
Carpenter Syndrome 1
Cerebral atrophy, Short neck, Sacral dimple, Aplasia/Hypoplasia of the corpus callosum, Scoliosis... OMIM:201000
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Abnormal pyramidal sign, Cerebellar atrophy, Agenesis of corpus callo... OMIM:614833
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hypoplasia of the corpus callosum, Short neck, Sacral dimple, Hydrocephalus, Umbilical hernia ORPHA:1516
Camptodactyly Syndrome, Guadalajara Type 1
Microcephaly, Spina bifida, Sacral dimple, Abnormal form of the vertebral bodies ORPHA:1327
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Scoliosis, Spina bifida occulta, Hyperlordosis ORPHA:2780
Joubert Syndrome 27
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617120
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Spastic tetraparesis, Cerebellar ... ORPHA:356961
Acrocraniofacial Dysostosis
Microcephaly, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:949
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Liss... OMIM:614643
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Krabbe Disease
Hydrocephalus, Increased CSF protein, Progressive spasticity, Diffuse cerebral atrophy, Decerebra... OMIM:245200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Scoliosis, Hydr... OMIM:618577
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Spondylolisthesis OMIM:617877
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Cerebral atrophy, Thin corpus callosum OMIM:616521
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia OMIM:226300
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Cerebellar cyst, Dilated fourth ventricle, Abnormal periventricular white m... OMIM:615960
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Blepharospasm, Hyperlordosis, Tremor, Scoliosis, Torticollis, Abnormal posturing, Hyper... OMIM:128100
Iniencephaly
Myelomeningocele, Syringomyelia, Absent vertebra, Anencephaly, Hyperlordosis, Spinal dysraphism, ... ORPHA:63259
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Abnormal pyramidal sign, Dysmetria, Frequent falls, Cerebellar atrophy, Intenti... ORPHA:397946
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Hydrocephalus, ... OMIM:218350
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis OMIM:608634
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Microcephaly, Spina bifida occulta, Fused cervical vertebrae, Butterfly vertebrae OMIM:619227
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Spasticity, Hydrocephalus ORPHA:275543
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Hemiplegia/hemiparesis, M... ORPHA:588
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Alkuraya-Kucinskas Syndrome
Cerebellar dysplasia, Kinked brainstem, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hyp... OMIM:617822
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Lumbar hyperlordosis, Back pain OMIM:169550
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Hydrocephalus, Polymicrogyria OMIM:602501
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis OMIM:158590
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Thoracic scoliosis, Short neck, Agenesis of corpus callosum, Ab... ORPHA:314621
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae OMIM:618469
1Q21.1 Microduplication Syndrome
Hypertonia, Hydrocephalus ORPHA:250994
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Eye of the tiger anomaly of globus pallidus, Spasticity, Abnormal p... ORPHA:216866
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, Agenesis of corpus callosum ORPHA:1496
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis, Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Spastic tetraparesis, Chiari malformation, Hydrocephalus, Abnormality of the se... ORPHA:171839
Knobloch Syndrome 1
Occipital meningocele, Cerebral atrophy, Cerebellar atrophy, Occipital encephalocele, Ataxia, Ven... OMIM:267750
Joubert Syndrome 33
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617767
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Mental Retardation, Buenos Aires Type
Spastic gait, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cuboid-shaped... OMIM:249630
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Opisthotonus, Cerebellar hypoplasia, Ventricu... ORPHA:2671
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cerebellar dysplasia, Motor stereotypy, Cerebellar hypoplasia, Ventriculomegaly, Hypoplasia of th... ORPHA:500159
Mohr-Tranebjaerg Syndrome
Spasticity, Abnormal posturing, Tremor OMIM:304700
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis ORPHA:134
Glioblastoma
Cerebral edema, Abnormal corpus callosum morphology, Paralysis, Abnormal cerebral white matter mo... ORPHA:360
Acrofacial Dysostosis, Catania Type
Microcephaly, Spina bifida occulta ORPHA:1786
Kleeblattschaedel
Hydrocephalus OMIM:148800
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vacterl With Hydrocephalus
Abnormal form of the vertebral bodies, Absence of the sacrum, Spina bifida, Hydrocephalus, Aquedu... ORPHA:3412
Aicardi Syndrome
Block vertebrae, Choroid plexus cyst, Cavum septum pellucidum, Dilated third ventricle, Chiari ma... OMIM:304050
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Spastic tetraparesis, Bradykinesia, Hypoplasia of the corpus callosum... OMIM:614924
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hypothalamic hamartoma, Anterior hypopituitarism, Hydrocephalus OMIM:241800
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Thoracic scoliosis, Kyphosis, Pachygyria, Thick corpus callosum, Megalencephaly, H... OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Hydrocephalus, Cerebellar dysplasia, Kinked brainstem, Agenesis of corpus callosum, Occip... OMIM:236670
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Small cervic... ORPHA:397715
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, Increased CSF protein, Hypoplastic vertebral bodies, Ataxia... OMIM:272200
Intellectual Developmental Disorder, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, G... OMIM:616362
Congenital Toxoplasmosis
Microcephaly, Cerebral calcification, Ventriculomegaly, Hydrocephalus ORPHA:858
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Scoliosis, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Horner Syndrome, Congenital
Paralysis OMIM:143000
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Anemia, Leukopenia, Leukocytosis ORPHA:20
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Abnormality of the basal ganglia, Abnormal caudate nucleus morpholog... ORPHA:25
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia,... OMIM:615688
Joubert Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, Cerebellar verm... ORPHA:475
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hypoplasia of the brainstem, Microcephaly, Scoliosis, Lower limb hypertonia, Hy... ORPHA:2169
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Peho Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Porencephalic cyst, Ventriculom... ORPHA:2836
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal hypothalamus morphology, Cerebral edema, Abnormality of the ba... ORPHA:68
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Kyphosis, Hydranencephaly, Porencephalic cyst, Microcep... ORPHA:1393
Limb Body Wall Complex
Short umbilical cord, Abnormality of the vertebral column, Progressive congenital scoliosis, Myel... ORPHA:2369
Pelvis-Shoulder Dysplasia
Abnormal form of the vertebral bodies, Prominent protruding coccyx, Hydranencephaly, Lumbar hyper... ORPHA:2839
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressive extrapyr... ORPHA:225147
Alagille Syndrome
Spina bifida occulta, Vertebral segmentation defect, Butterfly vertebral arch, Abnormal form of t... ORPHA:52
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Dilated fourth ventricle, Athetosis, Ataxia, Primary microcephaly, Da... ORPHA:357058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Hypoplasia of the corpus callosum, Cerebellar cyst, Ventriculomeg... OMIM:616538
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis ORPHA:514
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:272
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
47,Xyy Syndrome
Cerebellar dysplasia, Abnormal brainstem morphology, Dysgenesis of the cerebellar vermis, Hydroce... ORPHA:8
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Papillary Tumor Of The Pineal Region
Episodic ataxia, Increased CSF protein, Hydrocephalus ORPHA:251915
Arachnoid Cyst
Abnormal spinal meningeal morphology, Tetraparesis, Enlarged fossa interpeduncularis, Spinal cord... ORPHA:2356
Autosomal Recessive Multiple Pterygium Syndrome
Microcephaly, Scoliosis, Spina bifida occulta, Umbilical hernia, Vertebral segmentation defect ORPHA:2990
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Scoliosis, Spina bifida occulta, Pachygyria OMIM:235510
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Scoliosis, Thoracolumbar kyphosis, Hydrocephalus, Spina ... OMIM:300373
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Ataxia, Ventriculomegaly, Fusion of ... ORPHA:59315
Posterior Meningocele
Occipital meningocele, Chiari malformation, Lipomyelomeningocele, Neural tube defect, Tethered co... ORPHA:268810
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Molar tooth sign on MRI, Ataxia, Oculomotor apraxia, Elongated ... OMIM:608629
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Hypoplasia of the corpus callosum, Spastic tetraplegia, Dil... OMIM:619306
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncu... OMIM:610688
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Dubowitz Syndrome
Sacral dimple, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Scoliosis, Hydrocephalus,... ORPHA:235
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, Acute myelomonocytic leukemia ORPHA:86843
Poems Syndrome
Thrombocytosis, Polycythemia ORPHA:2905
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Short neck, Choreoathetosis, Increased CSF protein, Perisyl... OMIM:615673
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cerebral atrophy, Abnormal posturing OMIM:614857
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Titubation, Tremor OMIM:619405
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Clumsiness, Hydrocephalus OMIM:300558
Incontinentia Pigmenti
Scoliosis, Cerebral cortical atrophy, Spasticity, Spina bifida occulta, Umbilical hernia, Hemiple... ORPHA:464
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hemiparesis, Hydrocephalus ORPHA:398189
Anophthalmia Plus Syndrome
Vertebral segmentation defect, Spina bifida ORPHA:1104
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Spastic tetraplegia, Hydrocephalus OMIM:300886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Microcephaly, Cerebellar hypoplasia, Cerebellar dysplasia, Hypoplasia of the corpus callosum OMIM:613155
Joubert Syndrome 37
Molar tooth sign on MRI, Lumbar hyperlordosis, Hypoplasia of the corpus callosum, Oculomotor apra... OMIM:619185
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Aqueductal stenosis, Abnormal vertebral morphology, Hydrocep... OMIM:276950
Melanosis, Neurocutaneous
Dandy-Walker malformation, Syringomyelia, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Variegate Porphyria
Paralysis OMIM:176200
Duane Retraction Syndrome
Short neck, Abnormal form of the vertebral bodies, Blepharospasm, Microcephaly, Spina bifida occu... ORPHA:233
Hemangioblastoma
Spinal hemangioblastoma, Cerebellar edema, Cerebellar hemangioblastoma, Hydrocephalus ORPHA:252054
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly,... ORPHA:899
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Joubert Syndrome 17
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar vermis hypoplasia OMIM:614615
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Kyphosis, Platyspondyly, Lumbar hyperlordosis, Megalencephaly, Hypoplasia of the c... OMIM:616482
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Spastic tetraparesis, Extra-axial cerebrospinal fluid accumulation, S... OMIM:619179
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polymicrogyria, Cerebellar vermi... OMIM:616546
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Perianal abscess, Hypochromic anemia, Leukocytosis OMIM:618213
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Dandy-Walker ... ORPHA:1647
Cerebral Visual Impairment
Focal cortical dysplasia, Abnormal cerebral morphology, Ischemic stroke, Cerebral palsy, Microcep... ORPHA:447788
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Retrocerebellar cyst, Hypopituitarism... ORPHA:1827
Alexander Disease
Cerebral calcification, Abnormal pyramidal sign, Short neck, Agenesis of corpus callosum, Kyphosi... ORPHA:58
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
3Mc Syndrome 1
Sacral dimple, Caudal appendage, Microcephaly, Spina bifida occulta, Wide anterior fontanel OMIM:257920
Joubert Syndrome 1
Occipital myelomeningocele, Hemifacial spasm, Cerebellar vermis hypoplasia, Enlarged fossa interp... OMIM:213300
Dural Sinus Malformation
Tetraparesis, Cerebral edema, Parkinsonism, Hypoplasia of the frontal lobes, Poor coordination, A... ORPHA:97339
Joubert Syndrome 15
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:614464
Gorlin Syndrome
Cerebral calcification, Vertebral wedging, Scoliosis, Vertebral fusion, Hydrocephalus, Hemivertebrae ORPHA:377
3Mc Syndrome
Caudal appendage, Hyperlordosis, Scoliosis, Spina bifida occulta, Umbilical hernia, Prominent coccyx ORPHA:293843
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Chiari malformation, Hydroceph... ORPHA:93262
Joubert Syndrome 28
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617121
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus, Decreased response to growth ... OMIM:609757
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic cervical vertebrae, Scoliosis, Hydro... ORPHA:2635
Joubert Syndrome 40
Oculomotor apraxia, Molar tooth sign on MRI OMIM:619582
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Spina bifida, Ventriculomegaly ORPHA:1120
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebellar hypoplasia, Porencepha... OMIM:613001
Neurocutaneous Melanocytosis
Syringomyelia, Chiari malformation, Ventriculomegaly, Dandy-Walker malformation, Hemiparesis, Apl... ORPHA:2481
Hydrolethalus
Agenesis of corpus callosum, Anencephaly, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly ORPHA:2189
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Spastic paraparesis, Lower limb spasticity, Ataxia, Ventriculomegaly,... ORPHA:395
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Hydrocephalus OMIM:269920
Waardenburg Syndrome Type 1
Spina bifida, Meningocele, Scoliosis ORPHA:894
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:277170
Baller-Gerold Syndrome
Agenesis of corpus callosum, Abnormal vertebral morphology, Scoliosis, Hydrocephalus, Spina bifid... OMIM:218600
Joubert Syndrome 35
Molar tooth sign on MRI, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle, Cere... OMIM:618161
Cleidocranial Dysplasia
Spina bifida occulta, Abnormal sacrum morphology, Scoliosis ORPHA:1452
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Microcephaly, Absence of the sacrum, Spinal dysraphism, Tethered cord, Butter... OMIM:617660
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Spina bifida occulta OMIM:300707
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis, Hemiplegia, Hydrocephalus, Umbilical hernia ORPHA:2181
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon, Absent mesencephalon OMIM:601374
Joubert Syndrome 18
Kyphoscoliosis, Molar tooth sign on MRI OMIM:614815
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume ORPHA:84064
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Chiari malformation, Microcephaly, Spina ... ORPHA:3380
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI, Ataxia, Oculomotor apraxia, Hypertonia OMIM:612291
Larsen Syndrome
Cervical kyphosis, Spondylolysis, Spinal cord compression, Beaking of vertebral bodies, Hypoplast... OMIM:150250
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Abnormality of thrombocytes, Extramedulla... OMIM:612840
Trisomy 20P
Incoordination, Vertebral segmentation defect, Kyphosis, Short neck, Abnormal form of the vertebr... ORPHA:261318
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Abnormal pyramidal sign, Chorea, Exaggerated s... OMIM:272750
Cerebellar-Facial-Dental Syndrome
Short neck, Cerebellar hypoplasia, Abnormal midbrain morphology, Limb hypertonia, Inferior cerebe... ORPHA:444072
Brucellosis
Leukopenia, Leukocytosis, Lung abscess, Thrombocytosis, Splenomegaly, Anemia, Granuloma, Liver ab... ORPHA:1304
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Chiari malformation, Hydrocephalus, Polymicrogyria, Aplasia/Hypoplasia of the c... ORPHA:60040
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Abnormal vertebral morphology, Hydrocephalus, Holoprosencephaly, Hem... ORPHA:77298
Even-Plus Syndrome
Dysplastic corpus callosum, Coronal cleft vertebrae, Vertebral clefting, Short neck, Agenesis of ... OMIM:616854
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Thoracic kyphosis, Short neck, Agenesis of corpus callosum, Motor stereotypy,... ORPHA:508498
Meckel Syndrome, Type 2
Dandy-Walker malformation, Anencephaly, Meningocele, Encephalocele OMIM:603194
Mosaic Trisomy 9
Short neck, Ventriculomegaly, Microcephaly, Dandy-Walker malformation, Spina bifida, Scoliosis, H... ORPHA:99776
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar atrophy, Cerebellar hypoplasia, S... OMIM:618590
Townes-Brocks Syndrome 2
Spina bifida occulta, Scoliosis OMIM:617466
Temple Syndrome
Scoliosis, Decreased response to growth hormone stimulation test, Hydrocephalus ORPHA:254516
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Myoclonus, Abnormal cerebral white matter morphology ORPHA:83601
Basal Cell Nevus Syndrome
Vertebral wedging, Calcification of falx cerebri, Spina bifida, Scoliosis, Vertebral fusion, Hydr... OMIM:109400
Mend Syndrome
Dandy-Walker malformation, Hypertonia, Kyphosis, Hydrocephalus OMIM:300960
Unilateral Polymicrogyria
Spastic tetraplegia, Perisylvian polymicrogyria, Involuntary movements, Microcephaly, Hemiparesis... ORPHA:268943
Arnold-Chiari Malformation Type I