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Gene: Pomk MGI:1921903

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Gene Summary

Name:
protein-O-mannose kinase
Synonyms:
4930444A02Rik,  Sgk196

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hematocrit Pomkem1(IMPC)Hmgu HET Early adult 5.75×10-05
abnormal kidney morphology Pomkem1(IMPC)Hmgu HET Early adult 0.00
increased bone mineral density Pomkem1(IMPC)Hmgu HET Early adult 1.71×10-06
increased spleen weight Pomkem1(IMPC)Hmgu HET Early adult 2.26×10-05
decreased hemoglobin content Pomkem1(IMPC)Hmgu HET Early adult 1.75×10-05
preweaning lethality, complete penetrance Pomkem1(IMPC)Hmgu HOM   Early adult 0.000179
decreased erythrocyte cell number Pomkem1(IMPC)Hmgu HET Early adult 8.98×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Pomk 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 Pomk by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu... ORPHA:370959
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Polymicrogyria, Hydrocephalus, Abno... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria, Type II... OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
OMIM:616094

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... OMIM:604213
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Lissencephaly 1
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cereb... OMIM:607432
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Spastic tetraplegia, Hypertonia, Lissencephaly, Cerebellar hypoplasia, Pe... OMIM:618677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Lissencephaly 3
Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Ataxia, Spastic tetrap... OMIM:611603
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Cerebellar vermis atrophy, Spasticity OMIM:618185
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Spastic paraplegia, Cerebellar hypoplasia OMIM:618572
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, Dandy-Walker malformation,... ORPHA:1538
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Recurrent fractures, Splenomegaly,... OMIM:611490
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Spastic tetraplegia, Hypertonia, Lissencephaly, Pachygyria, Polymicrogyria, V... OMIM:618730
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorde... OMIM:618709
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Spastic tetrapl... OMIM:619302
Gómez-López-Hernández Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Hydrocephalus... ORPHA:1532
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Enlarged sylvian cistern, Gray matter heterotopia, Spasticity, Pachygyria, Agyria, Ventriculomegaly ORPHA:1084
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Mental deterioration, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality ... ORPHA:79262
Lissencephaly 4
Babinski sign, Simplified gyral pattern, Colpocephaly, Hypertonia, Lissencephaly, Cerebellar hypo... OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... OMIM:615411
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Oromotor apraxia, Hemipar... ORPHA:300573
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella... ORPHA:352682
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Gray matter heterotopia, Lateral vent... OMIM:600348
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Cerebellar hy... OMIM:615768
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Dandy-Walker malformation OMIM:123155
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... ORPHA:37748
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly ORPHA:2204
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebella... ORPHA:1528
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Dementia, Abnormality ... OMIM:615362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp... OMIM:613153
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Microcephaly 5, Primary, Autosomal Recessive
Flat occiput, Simplified gyral pattern, Cerebellar hypoplasia, Attention deficit hyperactivity di... OMIM:608716
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... OMIM:615191
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Cerebellar hypoplasia, Dolichocephaly, ... OMIM:616531
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Tremor OMIM:615945
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:171703
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration OMIM:616187
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Osteopetrosis... OMIM:620366
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia ORPHA:423296
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly OMIM:614830
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callos... OMIM:300067
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Spasticity, Polymicrogyria, Agenesis ... ORPHA:101029
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia, Cognitive impairment ORPHA:2807
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Pineocytoma
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... ORPHA:251912
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Parkinsonism, Olivopontocerebellar hypoplasia, Kinet... ORPHA:98756
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Cerebellar h... OMIM:618273
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Frequent falls, Ventriculomegaly, Cerebe... ORPHA:370980
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif... OMIM:616212
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Thickened calvaria, Spastic diplegia ORPHA:85335
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri... OMIM:615181
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... ORPHA:848
Maternal Hyperthermia-Induced Birth Defects
Hypertonia, Abnormality of neuronal migration, Cognitive impairment, Midface retrusion ORPHA:2216
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Hydrocephalus, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Pachygyria OMIM:618174
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissen... ORPHA:324416
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Rickets of the l... ORPHA:882
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia ORPHA:1802
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... OMIM:616053
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Symmetrical Thalamic Calcifications
Ataxia, Abnormality of neuronal migration, Hypertonia, Cognitive impairment, Spasticity ORPHA:1314
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Lateral ... OMIM:615889
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Pachygyria, Cryptorchidism, Simplified gyral pattern, Abnormality of neuron... OMIM:604317
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spinocerebellar Ataxia Type 14
Rigidity, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology,... OMIM:203450
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Hypersplenis... ORPHA:77259
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Periventricular heterotopia, Hypoplasia of the pons, Partial agenesis of the ... OMIM:616171
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidism, Abnormality... OMIM:300957
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... OMIM:259700
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hemimegalencephaly
Ventriculomegaly, Cranial asymmetry, Hemiparesis, Gray matter heterotopia, Myoclonus, Pachygyria,... ORPHA:99802
Joubert Syndrome 30
Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterotopia, Superior cerebellar dyspl... OMIM:617622
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Oculomotor apraxia, Abnormal ... OMIM:617145
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Agenesis of corpu... OMIM:610245
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hydrocephalus, Simplified gyral pattern, Spastic tetraparesis OMIM:619470
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Clumsiness, Spastic dysarthria, Cerebellar hypoplasi... ORPHA:314978
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Abnormality of neuronal migration, Decreased calvarial ossification, Aplasia/Hypo... ORPHA:2772
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impai... ORPHA:276183
Leber Congenital Amaurosis
Encephalocele, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of t... ORPHA:65
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer... OMIM:207950
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst OMIM:109130
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia... ORPHA:521406
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu... ORPHA:370959
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Congenital Hydrocephalus
Frontal bossing, Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventricu... ORPHA:2185
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Congenital hypoplastic ... ORPHA:77297
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Progressiv... ORPHA:1170
Spermatogenic Failure, X-Linked, 5
Male infertility, Reduced progressive sperm motility, Irregularly shaped sperm tail, Coiled sperm... OMIM:301099
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impa... OMIM:620158
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Spasticity, Cerebellar hypoplasia, Inferi... OMIM:304100
Spermatogenic Failure 72
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm axoneme cent... OMIM:618153
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari type I malformation, Abnorm... OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Babinski sign, Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:608840
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Progressive cerebella... ORPHA:139485
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Ce... OMIM:213200
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Chiari malformation, Attention deficit hype... ORPHA:261102
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Spermatogenic Failure 33
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myocl... OMIM:619028
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lac... OMIM:616034
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Ventriculomegaly ORPHA:1980
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,... OMIM:614831
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Spermatogenic Failure 65
Male infertility, Reduced progressive sperm motility, Oligozoospermia, Coiled sperm flagella, Irr... OMIM:619712
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Abnormal calvaria morphology, Cerebellar hypoplasia, Pachygy... ORPHA:255138
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coor... ORPHA:79263
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign,... OMIM:617225
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Spastic tetraplegia, Plagiocephaly, Pachygyria OMIM:614563
1Q21.1 Microduplication Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Hypertonia, Attention deficit hyperactivity disorder ORPHA:250994
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity ORPHA:309169
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Spermatogenic Failure 56
Male infertility, Reduced progressive sperm motility, Oligozoospermia, Coiled sperm flagella, Irr... OMIM:619515
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Dysmetria OMIM:617917
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... ORPHA:401901
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Frontal bossing, Agenesis of cerebellar vermis, Partial absence of cere... OMIM:220220
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic par... ORPHA:329284
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... ORPHA:71517
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... ORPHA:101070
Craniosynostosis 6
Cerebellar atrophy, Bicoronal synostosis, Turricephaly, Craniosynostosis, Parietal foramina, Brac... OMIM:616602
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Palatal tremor ORPHA:363717
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Increased CSF lactate, Myoclonus OMIM:612016
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Dystonia, Spasticity, Ventriculo... OMIM:610333
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus... OMIM:218670
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:300049
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... ORPHA:33445
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum ORPHA:459074
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... ORPHA:101030
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Neurocutaneous Melanocytosis
Ventriculomegaly, Meningocele, Abnormality of neuronal migration, Hemiparesis, Chiari malformatio... ORPHA:2481
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Ventriculomegaly, Subcortical heterotopia, Agyria, Type II lissen... OMIM:614643
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Masa Syndrome
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Agenesis of corpus callosum... OMIM:303350
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Spermatogenic Failure 70
Male infertility, Azoospermia, Oligozoospermia, Reduced sperm motility OMIM:619828
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Dystonia, Delayed menarche ORPHA:330050
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... OMIM:615157
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia OMIM:618387
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure, X-Linked, 6
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Absent sperm axoneme... OMIM:301101
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetrapleg... OMIM:618476
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron... ORPHA:475
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Hydrocephalus ORPHA:1008
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:613155
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Oligozoospermia, Immotile sperm OMIM:612997
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Abnormal cerebrospinal fluid morphology, Tremor, Babinski ... ORPHA:251282
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Colpocephaly, Cerebellar hypoplasia, Polymicrogyria, Midface retrusion OMIM:618731
Walker-Warburg Syndrome
Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Polymicrogyria, Hydrocephalus, Abno... ORPHA:899
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Decreased testicular size, Reduced progressive sperm motility OMIM:619689
Brain Small Vessel Disease 2
Subcortical heterotopia, Spastic tetraplegia, Hemiplegia, Polymicrogyria, Ventriculomegaly OMIM:614483
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Adams-Oliver Syndrome 2
Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymic... OMIM:614219
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:614822
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Hydrocephalus, Brachycephaly, Plagiocephaly, Dolichocephaly, Type II lissencephaly ORPHA:272
Developmental And Epileptic Encephalopathy 65
Cerebellar atrophy, Spasticity, Plagiocephaly, Ventriculomegaly OMIM:618008
Holoprosencephaly 14
Cerebellar atrophy, Frontal bossing, Ventriculomegaly, Proboscis, Periventricular heterotopia, Al... OMIM:619895
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Holoprosencephaly, Cognitive impa... ORPHA:588
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apraxia, Spasticity OMIM:617810
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Increased CSF homovanillic a... OMIM:613135
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Dolichocephaly, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormality of neuronal migration, Biparietal n... ORPHA:2518
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Biparietal narrowing,... ORPHA:220497
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonis... OMIM:300623
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum, Dand... OMIM:164180
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait at... ORPHA:289494
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dyst... OMIM:617435
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Spastic tetraparesis, Cryptorchidism, Hydrocephalus, Brachycephal... ORPHA:171839
Spermatogenic Failure 17
Male infertility OMIM:617214
Crouzon Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Ch... ORPHA:207
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Polymicrogyria, Agenesis... OMIM:225790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Lissencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Agyria, Type II... OMIM:615249
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Chiari malformation, Aplasia/Hypopla... ORPHA:93262
Kleeblattschaedel
Hydrocephalus, Cloverleaf skull, Craniosynostosis OMIM:148800
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Cogn... ORPHA:216873
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... OMIM:259720
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Plagiocephaly, Lateral ventricle dilatati... OMIM:617751
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Cerebellar atrophy, Brachycephaly, Dysmetria, Gait ataxia ORPHA:320385
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Hydrocephalus, Abnormality of neuronal migratio... ORPHA:93274
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... OMIM:612714
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Slurre... ORPHA:137898
Spinocerebellar Ataxia 2
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... OMIM:183090
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Agenesis of ... OMIM:618577
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Perisylvian polymicrogyria, Clumsiness, Choreoathetosis, Abnormal... OMIM:615673
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxi... OMIM:208920
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Polymi... ORPHA:60040
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Truncal ataxia, Memory impairment ORPHA:98764
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Cryptorchidism, Cerebellar hypoplasia, A... ORPHA:1647
Cerebral Palsy, Spastic Quadriplegic, 3
Abnormal pyramidal sign, Spastic diplegia, Spastic tetraplegia, Gray matter heterotopia, Cognitiv... OMIM:617008
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... OMIM:620327
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Plagiocephaly, Gray matter heterotopia, Lissencephaly, Cerebella... OMIM:617822
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Pachygyria, Hydrocephalus, Lissencephaly, Cerebellar... OMIM:253800
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Cerebellar vermis hypoplasia, Cryptorchidism, Hydrocephalus, Brachycephaly, Atten... OMIM:609757
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria, Enlarged cerebellum, Ataxia ORPHA:65285
Spinocerebellar Ataxia Type 21
Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function OMIM:300884
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Torticollis, Cerebellar vermis hypoplasia, Flat occiput, Pa... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle... OMIM:613154
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Flat occiput, Hypoplasia of the pons, Brachycephaly, Lateral ventricle dila... OMIM:618736
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Sp... ORPHA:542310
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic par... OMIM:300894
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Ventriculomegaly, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Hypogonadism, Po... OMIM:300354
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Hypoplasia of the pons, Torticollis, Plagiocephaly, Cerebellar hypoplasia OMIM:607313
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Biparietal narrowing,... ORPHA:220493
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2512
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis, Hepatomegaly OMIM:618541
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Frontal bossing, Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, H... ORPHA:163961
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Vent... OMIM:619556
Coach Syndrome 2
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Progressive Supranuclear Palsy-Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... ORPHA:240103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Partial absence of cerebellar vermis, Hydr... OMIM:613150
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Abnormality of neurona... ORPHA:163681
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy OMIM:616719
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata... OMIM:210000
Papillary Tumor Of The Pineal Region
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... ORPHA:251915
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Edinburgh Malformation Syndrome
Frontal bossing, Hydrocephalus, Hypertonia, Abnormality of neuronal migration ORPHA:1895
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Abnormal calvari... OMIM:175700
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra... ORPHA:2318
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior... OMIM:617013
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
47,Xyy Syndrome
Male infertility, Macroorchidism, Cryptorchidism, Hydrocephalus, Oligozoospermia, Azoospermia, At... ORPHA:8
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Osteolysis... ORPHA:77261
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... OMIM:615924
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Turricephaly, Agenesis of cerebellar vermis, Cerebellar ver... OMIM:601853
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... OMIM:607694
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Fetal ascites, Advanced ossification of carpal bones, Advanced tarsal... OMIM:215045
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Demen... OMIM:137440
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachyceph... ORPHA:459061
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Periv... OMIM:619188
Developmental And Epileptic Encephalopathy 49
Frontal bossing, Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasci... OMIM:617281
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Hemiparesis, Agenesis of corpus callosum OMIM:617542
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Cerebellar dysplasia OMIM:250951
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Myoclonus, Retrocollis, Cognitive impairment, Oromandibular dyston... OMIM:617284
Melanosis, Neurocutaneous
Mental deterioration, Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Oligozoospermia, Reduced progressive sperm motility OMIM:620277
Man1B1-Cdg
Frontal bossing, Resting tremor, Flat occiput, Periventricular heterotopia, Cerebellar hypoplasia... ORPHA:397941
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Tremor, Cryptorchidism, Hypertonia, Aplasia/Hypoplasia of t... ORPHA:1192
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Cognitive impairment, ... ORPHA:314632
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly, Cerebellar... OMIM:616538
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect ORPHA:1931
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria ORPHA:83473
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordinatio... ORPHA:228360
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Hypertonia, Skull asymmetry, Lissencephaly, Dandy-Walker malformation OMIM:612938
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation,... OMIM:312080
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor... ORPHA:99947
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Limb myoclonus, Periventricular nodular he... ORPHA:352582
Periventricular Nodular Heterotopia 7
Ataxia, Cryptorchidism, Choroid plexus cyst, Gray matter heterotopia, Dolichocephaly, Periventric... OMIM:617201
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Opisthotonus, ... OMIM:614969
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, CSF pleocytosis, Dementia, Cognitive impairment, Increased CSF protein ... OMIM:603472
Thanatophoric Dysplasia
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Midface retrusion, Ven... ORPHA:2655
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Cryptorchidism, Plagiocephaly, Cerebellar hypoplasia, Polymicrogyria, Ventriculomegaly, Cerebella... ORPHA:500159
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Neu-Laxova Syndrome
Ventriculomegaly, Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuron... ORPHA:2671
Nasu-Hakola Disease
Chorea, Hydrocephalus, Frontal lobe dementia, Oculomotor apraxia, Memory impairment, Spasticity, ... ORPHA:2770
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Central Precocious Puberty In Male
Hydrocephalus, Abnormality of the testis size, Hypothalamic hamartoma, Attention deficit hyperact... ORPHA:649929
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Simplified gyral pattern, Gray matte... OMIM:615219
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria, Ven... OMIM:617397
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Hydroc... ORPHA:1454
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, F... OMIM:302800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Cranial hyperostosis, Hyperkinetic movements, Upper limb spasticity, Decreased testicular... ORPHA:457240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Tremor, Dysplastic corpus callosum, Primary amenorrhea, Hemipares... OMIM:619737
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Oculomotor apraxia OMIM:614867
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysme... OMIM:614381
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:602501
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Sp... ORPHA:529665
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... OMIM:619775
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... OMIM:616505
Galloway-Mowat Syndrome 4
Plagiocephaly, Spasticity, Polymicrogyria, Cerebellar hypoplasia OMIM:617730
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Br... OMIM:261640
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Hydrocephalus, Craniosynostosis, Dolichocephaly ORPHA:1516
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Tor... OMIM:128100
Desmosterolosis
Frontal bossing, Abnormal cortical gyration, Pachygyria, Rigidity, Hydrocephalus, Abnormality of ... ORPHA:35107
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation OMIM:619405
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Thrombo... ORPHA:2905
Pallister-Hall-Like Syndrome
Chiari type I malformation, Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Meningoencephalocele, H... OMIM:236670
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata... OMIM:602481
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Cryptorchidism, Attention deficit hyperactivity disorder, Periventricular nod... OMIM:618659
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Pettigrew Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Gait ataxia, ... OMIM:304340
Warburg Micro Syndrome 4
Cerebellar atrophy, Cryptorchidism, Babinski sign, Perisylvian polymicrogyria, Brachycephaly, Spa... OMIM:615663
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Ataxia, Periventricular heterotopia, Hydrocephalus, Plagiocephaly, Colpocephaly, ... OMIM:619833
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Oligosacchariduria, Abnormal bone ... ORPHA:163649
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina... ORPHA:85188
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dyston... OMIM:617710
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Dysdiadochokinesis, D... ORPHA:247234
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Increased CSF lactate, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
3C Syndrome
Frontal bossing, Ventriculomegaly, Hydrocephalus, Abnormality of neuronal migration, Prominent oc... ORPHA:7
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Craniosynostosis ORPHA:380
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Classic Galactosemia
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... ORPHA:79239
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... ORPHA:157
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Perisylvian p... ORPHA:98889
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Craniosynostosis, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Pe... ORPHA:468631
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Hydrocephalus, Spasticity, Rapid neurologic deterioration, Increased ... OMIM:272200
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Cryptorchidism, Brachycephaly, Hyp... ORPHA:228390
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Plagiocep... ORPHA:75857
4Q21 Microdeletion Syndrome
Frontal bossing, Tremor, Cerebellar hypoplasia, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238750
12Q14 Microdeletion Syndrome
Ectopic kidney, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney ORPHA:94063
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Gaucher Disease
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ... ORPHA:355
Vici Syndrome
Hypoplasia of the pons, Gray matter heterotopia, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:1493
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly, Cerebellar vermis hypoplasia, Polymicrogyria, Spasticity OMIM:612379
Krabbe Disease
Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spasticity, Motor deterioration, Inc... OMIM:245200
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Orofaciodigital Syndrome Type 6
Frontal bossing, Cerebellar vermis hypoplasia, Ataxia, Tremor, Bilateral cryptorchidism, Abnormal... ORPHA:2754
Galloway-Mowat Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Cogni... ORPHA:2065
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly OMIM:614576
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Cryptorchidism, Spastic tetraplegia, Gray m... OMIM:620024
Dural Sinus Malformation
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myelopathy, Poor coordination, Hydrocephalu... ORPHA:97339
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Acromelic Frontonasal Dysostosis
Encephalocele, Parietal foramina, Cryptorchidism, Choroid plexus cyst, Brachycephaly, Retrocerebe... OMIM:603671
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia OMIM:612561
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Diabetic Embryopathy
Frontal bossing, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia of the cere... ORPHA:1926
Medulloblastoma
Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cogni... ORPHA:616
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus OMIM:615599
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Abnormal cer... ORPHA:2356
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Retroperitoneal fibr... ORPHA:35687
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca... OMIM:260400
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:615630
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventriculomegaly, Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus ORPHA:397951
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Increased CSF phenylalan... OMIM:233910
Central Neurocytoma
Abnormal lateral ventricle morphology, Babinski sign, Ataxia, Hydrocephalus ORPHA:73256
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Endocrine-Cerebroosteodysplasia
Focal polymicrogyria, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Dolichocephaly, Aplasia/H... OMIM:612651
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp... OMIM:615574
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Agene... ORPHA:228308
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Cryptorchidism, Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Joubert Syndrome 2
Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, ... OMIM:608091
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Dolichocephaly ORPHA:44
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:141333
Pfeiffer Syndrome
Cloverleaf skull, Hydrocephalus, Chiari malformation, Coronal craniosynostosis, Brachyturricephaly OMIM:101600
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor... ORPHA:59315
Tay-Sachs Disease
Cerebellar atrophy, Short attention span, Exaggerated startle response, Incoordination, Dystonia,... ORPHA:845
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicro... OMIM:264480
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migr... ORPHA:2211
Hogue-Janssen Syndrome 2
Hydrocephalus, Gait ataxia, Plagiocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Anemia OMIM:127000
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Cognitive impairment ORPHA:858
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Thanatophoric Dysplasia, Type I
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Midface retrusion OMIM:187600
Coffin-Lowry Syndrome
Frontal bossing, Craniofacial hyperostosis, Abnormality of neuronal migration, Hypertonia, Progre... ORPHA:192
Aceruloplasminemia
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Biparietal narrowing, Midface retrusion, Ventriculomegaly ORPHA:2836
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Spastic tetraplegia OMIM:300886
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Abnormal cerebrospinal fluid morphology, Babinski sig... ORPHA:314404
Trisomy 1Q
Frontal bossing, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosu... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Ventriculomegaly, Pachygyria, Hydrocephalus, Cerebellar hypoplasia, Myoclon... OMIM:253280
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Increased CSF lactate, Cervi... OMIM:617186
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity OMIM:619694
Apert Syndrome
Frontal bossing, Cloverleaf skull, Hydrocephalus, Chiari malformation, Acrobrachycephaly, Brachyt... ORPHA:87
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Hydrocephalus, Clumsiness OMIM:300558
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum OMIM:307000
Ritscher-Schinzel Syndrome 1
Prominent occiput, Hydrocephalus, Brachycephaly, Dandy-Walker malformation OMIM:220210
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus OMIM:620157
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
B4Galt1-Cdg
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Dolichocephaly OMIM:310400
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk... OMIM:611134
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Lateral ventricle dilatation, Dystonia, Periventricular heterotopia OMIM:614105
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Acrania, Dysplastic corpus callosum, Cryptorchidism, Gray matter heterotopia, Colpo... OMIM:618820
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Agenesis of... ORPHA:1812
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density ORPHA:36913
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Frontal bossing, Hydrocephalus ORPHA:2181
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... ORPHA:25
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, Agenes... ORPHA:314679
Thanatophoric Dysplasia Type 1
Frontal bossing, Cloverleaf skull, Hydrocephalus, Gray matter heterotopia, Ventriculomegaly ORPHA:1860
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Intellectual Developmental Disorder, Autosomal Dominant 65
Turricephaly, Ataxia, Noncommunicating hydrocephalus, Clumsiness, Attention deficit hyperactivity... OMIM:619320
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus... OMIM:614424
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... ORPHA:572798
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Cognitive impairm... OMIM:146500
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Hypoplasia of the pons, Simplified gyral pattern, Macrogyria, Plagiocep... OMIM:300749
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Spasticity, Dementia, Hydrocephalus ORPHA:1946
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Midface retrusion, Da... OMIM:612582
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Spastic dysarthri... ORPHA:447753
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Brachycephaly, Ventriculomegaly OMIM:109120
Fg Syndrome Type 1
Craniosynostosis, Abnormal cerebellum morphology, Hydrocephalus, Cryptorchidism, Prominent occipu... ORPHA:93932
Temple Syndrome
Frontal bossing, Hydrocephalus, Cryptorchidism ORPHA:254516
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Pancreatic steatosis,... OMIM:617052
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
Apert Syndrome
Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari... OMIM:101200
Gorlin Syndrome
Frontal bossing, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Brachycephaly ORPHA:377
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Brachycephaly, Tetraplegia, Cerebellar hypoplasi... OMIM:257300
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalcinosis, Hypern... ORPHA:90041
Holoprosencephaly
Encephalocele, Frontal bossing, Flat occiput, Cryptorchidism, Chorea, Hydrocephalus, Abnormality ... ORPHA:2162
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
16P13.11 Microdeletion Syndrome
Cryptorchidism, Abnormality of neuronal migration, Hypertonia, Holoprosencephaly, Agenesis of cor... ORPHA:261236
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Radio-Tartaglia Syndrome
Frontal bossing, Ataxia, Tremor, Gray matter heterotopia, Attention deficit hyperactivity disorde... OMIM:619312
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Pontocereb... OMIM:606002
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Chiari malformation, Hypogonadism, Infertility, ... ORPHA:96170
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Chi... ORPHA:268810
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Frontal bossing, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of the corpus call... OMIM:619512
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Spasticity OMIM:618590
Beare-Stevenson Cutis Gyrata Syndrome
Flat occiput, Cloverleaf skull, Craniosynostosis, Hydrocephalus, Chiari malformation, Agenesis of... OMIM:123790
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Recurrent fractures, Enlarged tonsils, Proximal renal tubular acidosi... ORPHA:2785
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Increased CSF lactate, Hyperki... OMIM:616271
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Ataxia ORPHA:2720
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Iniencephaly
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Spasticity, Flat occiput, Brachycephaly OMIM:618797
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Muenke Syndrome
Plagiocephaly, Hydrocephalus, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Frontal bossing, Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, Attenti... OMIM:618929
Plasminogen Deficiency, Type I
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly OMIM:217090
Temple Syndrome
Frontal bossing, Hydrocephalus, Decreased testicular size, Cryptorchidism OMIM:616222
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Frontal bossing, Periventricular heterotopia, Attention deficit hyperactivity disorder, Midface r... OMIM:618870
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
Optic Pathway Glioma
Fatigable weakness, Hydrocephalus ORPHA:2086
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele, Chiari type I malformation, Dolichocephaly, Platybasi... OMIM:130720
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-Walker m... OMIM:613001
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Cloverleaf skull, Hydrocephalus, Chiari malformation ORPHA:93259
Bresek Syndrome
Plagiocephaly, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impoten... OMIM:105210
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Hypogonadism, Cerebellar hypoplasia, Ventriculomegaly OMIM:300514
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus OMIM:617244
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Gray matter heterotopia, Ataxia, Ventriculomegaly OMIM:617563
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:616546
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Dilated third ventricle, Partial agenesis of the corp... OMIM:304050
Orofaciodigital Syndrome I
Frontal bossing, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter heterot... OMIM:311200
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... ORPHA:94089
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Partial agenesis of th... OMIM:620305
Chromosome 6Q24-Q25 Deletion Syndrome
Frontal bossing, Short attention span, Hydrocephalus, Lateral ventricle dilatation, Diminished ab... OMIM:612863
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... OMIM:123500
Microcephaly 29, Primary, Autosomal Recessive
Enlarged cerebellum, Simplified gyral pattern, Ataxia OMIM:620047
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Japanese Encephalitis
Dystonia, Weakness due to upper motor neuron dysfunction, Paralysis, Paucity of anterior horn mot... ORPHA:79139
Progressive Supranuclear Palsy
Tremor, Rigidity, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Dementia, Cognitiv... ORPHA:683
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheu... ORPHA:99867
Cole-Carpenter Syndrome 2
Frontal bossing, Turricephaly, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos... OMIM:616294
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ... ORPHA:667
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Hypospadias, Camptodactyly of finger, Tarsal synostosis, Hydronep... ORPHA:90652
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Coronal craniosynostosis, Midface re... OMIM:112240
Tetrasomy 5P
Hydrocephalus, Cerebellar hypoplasia, Midface retrusion ORPHA:3309
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Proboscis, Cranio... OMIM:605627
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Hypospadias, Epispadias, Cranial hyper... ORPHA:2658
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Opitz-Kaveggia Syndrome
Frontal bossing, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus, Plagioce... OMIM:305450
Ritscher-Schinzel Syndrome 3
Cryptorchidism, Periventricular nodular heterotopia, Cerebellar vermis hypoplasia OMIM:619135
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Spasticity, Hydrocephalus ORPHA:275543
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Brachycephaly, Plagiocephaly, Hypogonadism, Attention deficit hype... ORPHA:500055
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Myoclonus, Right hemiplegia OMIM:607426
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Marshall-Smith Syndrome
Frontal bossing, Craniosynostosis, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Macro... OMIM:602535
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Emanuel Syndrome
Torticollis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:609029
1Q44 Microdeletion Syndrome
Frontal bossing, Hydrocephalus, Biparietal narrowing, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Rabin-Pappas Syndrome
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia OMIM:620155
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
7Q11.23 Microduplication Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Simplified gyral pattern, Dysmetr... ORPHA:96121
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus ORPHA:2701
Alg11-Cdg
Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Limb hypertonia ORPHA:280071
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Craniosynostosis, Cryptorchidism ORPHA:531151
Linear Nevus Sebaceus Syndrome
Frontal bossing, Ventriculomegaly, Prominent occiput, Plagiocephaly, Biparietal narrowing, Aplasi... ORPHA:2612
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Tremor, Abnormal pyra... ORPHA:240071
Spondyloepimetaphyseal Dysplasia, Krakow Type
Platybasia, Frontal bossing, Hydrocephalus, Chiari malformation OMIM:618162
Cerebral Visual Impairment
Short attention span, Cerebral palsy, Hydrocephalus, Clumsiness, Attention deficit hyperactivity ... ORPHA:447788
Peroxisome Biogenesis Disorder 13A (Zellweger)
Flat occiput, Gray matter heterotopia, Polymicrogyria, Dolichocephaly OMIM:614887
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Hydrocephalus, Abnormal sperm motility, Ventriculomegaly ORPHA:244
Alexander Disease
Frontal bossing, Ataxia, Clonus, Tremor, Aqueductal stenosis, Chorea, Hydrocephalus, Abnormal pyr... ORPHA:58
Young-Onset Parkinson Disease
Female sexual dysfunction, Short attention span, Tremor, Rigidity, Frontal lobe dementia, Bradyki... ORPHA:2828
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Frontal bossing, Midface retrusion OMIM:608624
Hydrocephalus, Normal-Pressure, 1
Dementia, Normal pressure hydrocephalus OMIM:236690
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Aicardi Syndrome
Hemiplegia/hemiparesis, Partial agenesis of the corpus callosum, Plagiocephaly, Hypertonia, Aplas... ORPHA:50
Monosomy 18Q
Bilateral cryptorchidism, Hydrocephalus, Poor coordination, Choreoathetosis, Cerebellar hypoplasi... ORPHA:1600
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Chiari type I malformation, Dol... OMIM:182212
Raine Syndrome
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Arthrogryposis multipl... OMIM:259775
Bohring-Opitz Syndrome
Trigonocephaly, Gray matter heterotopia, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:605039
Cutis Laxa, Autosomal Recessive, Type Iib
Frontal bossing, Hydrocephalus, Agenesis of corpus callosum, Midface retrusion OMIM:612940
Spondylocostal Dysostosis 4, Autosomal Recessive
Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:613686
Focal Facial Dermal Dysplasia Type Iv
Hemiparesis, Hydrocephalus ORPHA:398189
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Cryptorchidism, Hydrocephalus, Dolichocephaly, ... ORPHA:1555
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Cognitive impairment... ORPHA:395
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... ORPHA:416
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, C... ORPHA:90065
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatation, At... OMIM:619575
16Q24.3 Microdeletion Syndrome
Frontal bossing, Periventricular heterotopia, Cryptorchidism, Colpocephaly, Biparietal narrowing,... ORPHA:261250
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Short attention span, Communicating hydrocephalus, Ataxia, Confusion, Cranios... ORPHA:309282
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Chronic kidney disease, Abnormal T cell mo... ORPHA:330015
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Pyruvate Carboxylase Deficiency
Ataxia, Increased CSF alanine concentration, Tremor, Increased CSF citrulline concentration, Cere... ORPHA:3008
Lowry-Maclean Syndrome
Craniosynostosis, Bilateral cryptorchidism, Hydrocephalus, Hemiparesis, Trigonocephaly ORPHA:2409
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Hydroc... ORPHA:91348
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Hydronephrosis, A... ORPHA:847
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto... OMIM:207410
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Spina bifida, Hydrocephalus, Brachycephaly, Plagiocephaly, Ankle clonus, Hydrocele ... OMIM:613776
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly, Athetosis, Hydrocephalus, Midface retrusion OMIM:239300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Ventriculomegaly OMIM:608836
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Progress... OMIM:210710
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Periventricular heterotopia, Cryptorchidis... OMIM:615948
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Athetosis, Hyperkinetic mov... OMIM:615356
Tick-Borne Encephalitis
Speech apraxia, Abnormal medulla oblongata morphology, Incoordination, Paralysis, Tremor, CSF ple... ORPHA:297
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Olivopontocerebellar hypoplasia, Hydrocephalus, Plagiocephaly, Agenesis of corpus callosum, Ventr... ORPHA:457284
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Scaphocephaly, Cranial asymmetry OMIM:614886
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Distal Triplication 15Q
Hydrocele testis, Craniosynostosis, Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Stromme Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:243605
Griscelli Syndrome
Encephalocele, Spasticity, Ataxia, Hydrocephalus ORPHA:381
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Hydrocephalus OMIM:300863
Sturge-Weber Syndrome
Hydrocephalus, Chiari malformation, Attention deficit hyperactivity disorder ORPHA:3205
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Miller-Dieker Lissencephaly Syndrome
Frontal bossing, Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Prog... OMIM:247200
Hydrolethalus
Anencephaly, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Aymé-Gripp Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari type I malformation, Plagi... ORPHA:1272
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... OMIM:243910
15Q Overgrowth Syndrome
Turricephaly, Craniosynostosis, Hydrocephalus, Dolichocephaly, Agenesis of corpus callosum, Dandy... ORPHA:314585
Baller-Gerold Syndrome
Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Hydrocephalus, Oxycephaly, Spina bifid... OMIM:218600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Flat occiput, Cryptorchidism, Subependymal cysts, Gray matter heterotopia, Brachyturricephaly, Fr... OMIM:214100
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Hypogonadotropic hypogonadism, Abnorma... ORPHA:2495
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Low... ORPHA:79443
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Decreased calvarial ossification, Dolichocephaly, Ventriculom... OMIM:617866
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Dementia, Hy... OMIM:176500
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Craniosynostosis, Cerebellar dysplasia OMIM:601374
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Cryptorchidism, Chiari malformati... ORPHA:2462
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Plagiocephaly, Hydrocele testis, Ventriculomegaly OMIM:613603
Holoprosencephaly 7
Frontal bossing, Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum,... OMIM:610828
Monosomy 9Q22.3
Trigonocephaly, Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:77301
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Patchy osteosclerosis OMIM:241410
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Speech apraxia, Cranial asymmetry, Unilateral cryptorchidism ORPHA:137634
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Frontal bossing, Communicating hydrocephalus, Gait ataxia, Ventriculomegaly OMIM:617011
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity, Pa... ORPHA:1934
Methylcobalamin Deficiency Type Cble
Lower limb hypertonia, Hydrocephalus, Ventriculomegaly ORPHA:2169
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Triploidy
Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Myoclonus, Spasticity ORPHA:93400
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Low urinary cyclic AMP response to PTH admi... ORPHA:79444
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Thin calvarium, Spina bifida occulta ORPHA:2437
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Frontal bossing, Hydrocephalus, Irregular menstruation, Midface retrusion OMIM:616482
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Hemiparesis, Hypertonia, Calvarial skull defect ORPHA:974
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Irregular menstruation, Brachycephaly, Hypogonadism, Calvarial hyp... OMIM:101800
Fontaine Progeroid Syndrome
Turricephaly, Cerebellar vermis hypoplasia, Craniosynostosis, Periventricular heterotopia, Crypto... OMIM:612289
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Whipple Disease
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Myoclonus, Erectile dysfunction ORPHA:3452
Tenorio Syndrome
Hydrocephalus, Cerebral palsy, Ventriculomegaly, Clumsiness OMIM:616260
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Tremor, Hydrocephalus, Dementia, Abnormality of extrapyramidal motor function, Delirium OMIM:277400
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Full Nf2-Related Schwannomatosis
Abnormal cerebellum morphology, Hydrocephalus, Myelopathy, Hemiparesis, Memory impairment ORPHA:637
Achondroplasia
Frontal bossing, Hydrocephalus, Parietal bossing ORPHA:15
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Nephronophthisis 18
Hydrocephalus OMIM:615862
Van Maldergem Syndrome 2
Cryptorchidism, Subcortical band heterotopia, Gray matter heterotopia, Periventricular nodular he... OMIM:615546
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Cockayne Syndrome A
Cerebellar atrophy, Ataxia, Tremor, Cryptorchidism, Irregular menstruation, Dementia, Normal pres... OMIM:216400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... OMIM:301040
Basal Cell Nevus Syndrome 2
Frontal bossing, Hydrocephalus OMIM:620343
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia ORPHA:31
Holoprosencephaly 9
Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosu... OMIM:610829
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Vocal cord paresis, Ataxia, Progressive neurologic deterioration, Hydr... ORPHA:581
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Frontal bossing, Turricephaly, Craniosynostosis, Cryptorchidism, Hydrocephalus, Brachycephaly, De... ORPHA:95699
Congenital Myopathy 22A, Classic
Frontal bossing, Frequent falls, Scaphocephaly, Normal pressure hydrocephalus OMIM:620351
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus, Bicoronal synostosis OMIM:619951
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia ORPHA:2166
Sanjad-Sakati Syndrome
Hypoplasia of penis, Patchy osteosclerosis ORPHA:2323
Desmosterolosis
Frontal bossing, Partial agenesis of the corpus callosum, Hydrocephalus, Spasticity, Ventriculome... OMIM:602398
Hurler Syndrome
Frontal bossing, Progressive neurologic deterioration, Hydrocephalus, Cranial hyperostosis, Calva... OMIM:607014
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Midface retrusion OMIM:224400
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
1Q21.1 Microdeletion Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Agenesi... ORPHA:250989
Cole-Carpenter Syndrome
Communicating hydrocephalus, Frontal bossing, Turricephaly, Midface retrusion ORPHA:2050
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Ataxia, Confusion, Hypogonadotropic hypogonadism, Action tremor, Tremor, Cryptor... ORPHA:3455
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Intention tremor, Ataxia, Cognitive impairment, Torticollis, Isometric tremor... OMIM:619475
Trisomy 17P
Hydrocephalus, Hypertonia ORPHA:261290
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Periventricular heterotopia, Bilateral cryptorchidism, Partial agenesis... ORPHA:434179
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Marden-Walker Syndrome
Hydrocephalus, Cerebellar hypoplasia, Attention deficit hyperactivity disorder, Agenesis of corpu... ORPHA:2461
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Fatigable weakness of neck muscles ORPHA:26791
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Frontal bossing, Cerebellar vermis hypoplasia, Cryptorchidism, Poor ... OMIM:619841
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Splenopancreatic fu... OMIM:269150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Broad skull, Hydrocephalus, Cerebellar hypoplasia, Cryptorchidism ORPHA:163979
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Periventricular heterotopia, Cryptorchidism, Partial agenesis of the corpus c... OMIM:270400
Williams Syndrome
Osteopenia, Hypoplasia of penis, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux, Pelvic ki... ORPHA:904
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Scaphocephaly, Craniosynostosis OMIM:616914
Mend Syndrome
Cryptorchidism, Hydrocephalus, Midface retrusion, Dandy-Walker malformation, Limb hypertonia ORPHA:401973
Hurler Syndrome
Frontal bossing, Cerebral palsy, Dolichocephaly, Hydrocephalus, Abnormal pyramidal sign, Spastic ... ORPHA:93473
Mend Syndrome
Cryptorchidism, Hydrocephalus, Hypertonia, Midface retrusion, Dandy-Walker malformation OMIM:300960
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Dolichocephaly ORPHA:2969
Histiocytoid Cardiomyopathy
Hemiplegia, Cerebellar malformation, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cerebellar hypoplasia, Attention deficit hyperactivity disorder OMIM:614083
Mucopolysaccharidosis, Type Ii
Hydrocephalus, Scaphocephaly, Dolichocephaly OMIM:309900
Vici Syndrome
Gray matter heterotopia, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:242840
Mirage Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Paraplegia, Decreased testicular size OMIM:617053
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Frontal bossing, Craniosynostosis ORPHA:1064
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Frontal bossing, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion OMIM:245600
Yunis-Varon Syndrome
Abnormal occipital bone morphology, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, C... ORPHA:3472
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Craniosynostosis, Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Craniosynostosis, Spina bifida, Testicular neoplasm, Cryptorchidism, Hydrocephalu... ORPHA:363958
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Craniopharyngioma
Hypogonadotropic hypogonadism, Hydrocephalus, Abnormal hypothalamus morphology, Hypogonadism, Abn... ORPHA:54595
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Ventriculomegaly, Abnormality of neuronal migration, Attention deficit hyperactiv... ORPHA:464311
Arachnoiditis
Hydrocephalus ORPHA:137817
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Spasticity, Ataxia, Confusion ORPHA:220295
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Hydrocephalus ORPHA:585
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Gray matter heterotopia, Craniosynostosis, Cryptorchidism ORPHA:453499
Craniosynostosis And Dental Anomalies
Frontal bossing, Turricephaly, Flat occiput, Sagittal craniosynostosis, Scaphocephaly, Oxycephaly... OMIM:614188
Koolen-De Vries Syndrome
Gray matter heterotopia, Ventriculomegaly, Cryptorchidism OMIM:610443
Jacobsen Syndrome
Flat occiput, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Trigonocephaly, Spasticity OMIM:147791
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Hydrocephalus, Hypertonia, Dolichocephaly OMIM:115150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Tremor, Partial agenesis of the corpus callosum, ... OMIM:220111
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus ORPHA:1865
Achondroplasia
Frontal bossing, Hydrocephalus, Midface retrusion OMIM:100800
Hajdu-Cheney Syndrome
Hydrocephalus, Prominent occiput, Chiari malformation, Dolichocephaly, Platybasia ORPHA:955
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Frontal bossing, Torticollis, Craniosynostosis, Hydrocephalus, Plagiocephaly, Midface retrusion ORPHA:536467
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Agenesis ... OMIM:236680
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Dystonia, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Limb dysto... OMIM:175780
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hydrocephalus, Poor fine motor coordination, Dementia, Mental deterioration, Memory impai... ORPHA:79282
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Cardiofaciocutaneous Syndrome
Frontal bossing, Hydrocephalus, Biparietal narrowing, Cryptorchidism ORPHA:1340
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Polymicrogyria, Midface retrusion OMIM:154400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Midface retrusion OMIM:616007
Mucopolysaccharidosis Type 1
Hemiplegia/hemiparesis, Hydrocephalus, Dolichocephaly ORPHA:579
Coccidioidomycosis
Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, Cognitive impairment, ... ORPHA:228123
Pagod Syndrome
Encephalocele, Spina bifida, Meningocele, Abnormality of neuronal migration, Abnormal testis morp... ORPHA:991
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Chiari malformation, Hypertonia, T... OMIM:264090
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2075
Tetrasomy 9P
Cryptorchidism, Hydrocephalus, Oligozoospermia, Lissencephaly, Infertility, Pachygyria, Polymicro... ORPHA:3310
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Hypoplasia of the ovary, Decreased testicular size, Cerebellar cortical atrophy OMIM:619321
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Tremor, Cryptorchidism, Normal pressure hydrocephalus, Thicken... OMIM:133540
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... OMIM:615530
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility OMIM:244400
Alobar Holoprosencephaly
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal central motor function, Proboscis, Hydrocephalus, Oromotor apraxia, Neural tube defect, ... ORPHA:220386
H Syndrome
Hydrocephalus, Azoospermia, Hypogonadism, Decreased testicular size, Amenorrhea ORPHA:168569
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Dubowitz Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Spina ... ORPHA:235
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Attention deficit h... OMIM:618918
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Brachycephaly, Ventriculomegaly OMIM:618188
Trisomy 8P
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:264450
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus OMIM:314390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Hydrocephalus, Spastic paraplegia, Brachycephaly, Limb ataxia, Azoospermia, Hypertonia... ORPHA:2072
Osteopathia Striata With Cranial Sclerosis
Frontal bossing, Partial agenesis of the corpus callosum, Hydrocephalus, Spina bifida occulta, Th... OMIM:300373
Knobloch Syndrome
Calvarial skull defect, Occipital encephalocele, Hydrocephalus, Midface retrusion ORPHA:1571
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity di... OMIM:227646
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Nijmegen Breakage Syndrome
Mental deterioration, Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Craniosynostosis, Sagittal craniosynostosis, Cryptorchidism, Gray matter heterotopia, Lambdoidal ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Craniosynostosis, Sagittal craniosynostosis, Cryptorchidism, Gray matter heterotopia, Lambdoidal ... ORPHA:352665
Pseudoaminopterin Syndrome
Frontal bossing, Sagittal craniosynostosis, Cryptorchidism, Hydrocephalus, Fatigable weakness, Do... ORPHA:221120
Cousin Syndrome
Hydranencephaly, Frontal bossing, Hydrocephalus OMIM:260660
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Fanconi Anemia
Frontal bossing, Spina bifida, Cryptorchidism, Hydrocephalus, Azoospermia, Decreased fertility in... ORPHA:84
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Gait ataxia ORPHA:457359
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Basal Cell Nevus Syndrome 1
Frontal bossing, Hydrocephalus, Parietal bossing, Spina bifida OMIM:109400
Coffin-Siris Syndrome 12
Frontal bossing, Cryptorchidism, Noncommunicating hydrocephalus, Chiari malformation, Dolichoceph... OMIM:619325
Arthrogryposis, Distal, Type 4
Torticollis, Cranial asymmetry OMIM:609128
Loeys-Dietz Syndrome 1
Hydrocephalus, Chiari malformation, Craniosynostosis OMIM:609192
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Cryptococcosis
Mental deterioration, Memory impairment, Hydrocephalus, Prostatitis ORPHA:1546
Meckel Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker ... ORPHA:564
Costello Syndrome
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly OMIM:218040
Fraser Syndrome 1
Encephalocele, Abnormal cortical gyration, Cryptorchidism, Myelomeningocele, Hydrocephalus, Calva... OMIM:219000
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Chromosome 1P36 Deletion Syndrome, Distal
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Lateral ventricle dilatation, Midf... OMIM:607872
Split Cord Malformation
Paraparesis, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meningocele, Cervical spina b... ORPHA:573278
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Oeis Complex
Cryptorchidism, Myelomeningocele, Chiari malformation, Hydrocephalus OMIM:258040
Distal 22Q11.2 Microduplication Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Biparietal narrowing, Attention deficit hyperacti... ORPHA:261337
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia ORPHA:168577
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia OMIM:306955
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Chordee, Agenesis of corpus callosum, Hydrocephalus OMIM:309801
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus, Dolichocephaly OMIM:253200
22Q11.2 Deletion Syndrome
Turricephaly, Spina bifida, Cryptorchidism, Hydrocephalus, Meningocele, Multiple suture craniosyn... ORPHA:567
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia OMIM:208150
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Mohr Syndrome
Hydrocephalus OMIM:252100
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Plagiocephaly, Hypogonadism, Midface retrusion ORPHA:3042
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Osteogenesis Imperfecta
Ataxia, Hydrocephalus, Brachycephaly, Noncommunicating hydrocephalus, Prominent occiput, Tetrapar... ORPHA:666
Dextrocardia
Hydrocephalus ORPHA:1666
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia OMIM:616084
Focal Dermal Hypoplasia
Cryptorchidism, Hydrocephalus, Myelomeningocele, Chiari malformation, Spina bifida occulta, Agene... OMIM:305600
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hydrocephalus ORPHA:505248
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular heterotopia, Cryptor... ORPHA:261537
Campomelic Dysplasia
Frontal bossing, Spina bifida, Hydrocephalus, Spinal dysraphism, Midface retrusion OMIM:114290
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Abnormal testis morphology, Agenesis of corpus callosum, Midface retrusion ORPHA:2556
Kabuki Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly ORPHA:2322
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Neurofibromatosis Type 1
Ataxia, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Memory impairment ORPHA:636
Microphthalmia With Limb Anomalies
Frontal bossing, Hydrocephalus, Cryptorchidism ORPHA:1106
Loeys-Dietz Syndrome 2
Hydrocephalus, Chiari malformation, Craniosynostosis OMIM:610168
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Periventricular heterotopia,... ORPHA:2152
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Frontal bossing, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular het... ORPHA:261552
Schimmelpenning-Feuerstein-Mims Syndrome
Cranial asymmetry OMIM:163200
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus OMIM:102500
Wolf-Hirschhorn Syndrome
Cryptorchidism, Hydrocephalus, Craniofacial asymmetry, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Lymphangioleiomyomatosis
Hydrocephalus, Cognitive impairment ORPHA:538
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Fraser Syndrome 3
Hydrocephalus OMIM:617667
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Cryptorchidism, Hydrocephalus, Trigonocephaly, Agenesis of corpus c... OMIM:312870
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Short attention span, Progressive neurologic deterioration, Cognitiv... ORPHA:580
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Peters Plus Syndrome
Frontal bossing, Cryptorchidism, Hydrocephalus, Brachycephaly, Spina bifida occulta, Ventriculome... ORPHA:709
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Proteus Syndrome
Macroorchidism, Testicular neoplasm, Craniosynostosis, Gray matter heterotopia, Dolichocephaly, C... ORPHA:744
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Peters-Plus Syndrome
Frontal bossing, Craniosynostosis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ve... OMIM:261540
Genitopatellar Syndrome
Periventricular heterotopia, Cryptorchidism, Colpocephaly, Pachygyria, Agenesis of corpus callosum OMIM:606170
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Lower limb dysmetria, Attention deficit hyperactivity disorder ORPHA:363700
Otopalatodigital Syndrome, Type Ii
Frontal bossing, Spina bifida, Cryptorchidism, Hydrocephalus, Midface retrusion OMIM:304120
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Attention deficit hyperactivity disorder, Subependymal nodules ORPHA:805
Kabuki Syndrome 1
Cryptorchidism, Lateral ventricle dilatation, Hydrocephalus OMIM:147920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontal bossing, Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Spasticity OMIM:619534
Exstrophy-Epispadias Complex
Spina bifida, Cryptorchidism, Hydrocephalus, Male sexual dysfunction, Female sexual dysfunction ORPHA:322
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Chiari malformation, Agenesis of corpus callosum OMIM:164210
Roberts-Sc Phocomelia Syndrome
Craniosynostosis, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Brachycephaly OMIM:268300
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Townes-Brocks Syndrome 1
Cryptorchidism, Hydrocephalus, Holoprosencephaly OMIM:107480
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
OMIM:616094

Histopathology

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

There is no histopathology data for Pomk

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Pomkem1(IMPC)Hmgu Inter-exon deletion Mice
Pomktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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