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Gene: Cycs MGI:88578

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome c, somatic
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Alexander Disease Type I
Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity,... ORPHA:363717
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... ORPHA:90065
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Sneddon Syndrome
Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Stroke, Impaired distal tactile sensa... OMIM:182410
Familial Cervical Artery Dissection
Diabetes mellitus, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage,... ORPHA:36382
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Leukocytosis, Abnormal capillary physiology, Absent ankle pulse... ORPHA:90064
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Macrocytic anemia, Ataxia, Splenomegaly, Increased CSF lactate, Cardiomyopathy,... OMIM:619046
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Chronic neutropenia, Hydrocephalus, Partial agenesis of the corpus callosum, Sp... OMIM:619302
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosi... ORPHA:136
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Clonus, Decreased thalamic volume, Hypoplasia of the brainstem, Hypertonia, Dysphagia, Spasticity... OMIM:613668
Dystonia 30
Torticollis, Impulsivity, Aggressive behavior, Compulsive behaviors, Hypothalamic hamartoma, Loss... OMIM:619291
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia,... ORPHA:824
Dural Sinus Malformation
Somatic sensory dysfunction, Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, ... ORPHA:97339
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Gait disturbance, Myoclonus, Stroke, ... ORPHA:324708
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, N... ORPHA:449285
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Anorexia, Lymphadenopathy ORPHA:52416
Duplication Of The Pituitary Gland
Encephalocele, Lower limb spasticity, Abnormal midbrain morphology, Abnormal pituitary gland morp... ORPHA:314621
Cach Syndrome
T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Spastic diplegia, Dysmetri... ORPHA:135
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... OMIM:618709
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism OMIM:614514
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Christianson Syndrome
Death in early adulthood, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxi... ORPHA:85278
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia OMIM:166990
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto... ORPHA:71277
Abetal34V Amyloidosis
Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ... ORPHA:324703
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising su... ORPHA:99828
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbra... ORPHA:68
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Intracrani... ORPHA:85212
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Tubulinopathy-Associated Dysgyria
Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Attention deficit hyperactivity di... ORPHA:467166
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overweight, ... ORPHA:2822
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Ataxia, Cachexia, Anorexia, Myocardial i... ORPHA:3452
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord... ORPHA:94080
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Stroke, Spasticity ORPHA:542310
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis, Thalamic calcification, Motor tics OMIM:615483
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Diencephalic Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia, Thalamic calcification OMIM:618824
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Midline brainstem cleft, Hemiparesis, Fusio... OMIM:617542
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... OMIM:610333
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive OMIM:612740
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Pseudo-Torch Syndrome 3
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, C... OMIM:618886
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Cerebral hemorrhage, Thrombocytopenia, Patent ductus arteriosus, Lateral... OMIM:617397
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Miscarriage, T2 hypointense thalamus, Inability to walk, Unsteady gait, Spastic tetrapleg... ORPHA:1947
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis OMIM:603285
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Compulsive behaviors, Difficulty walking, Spastic paraparesis, Abnormal thalamus mo... ORPHA:397725
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Aggressive behavior, Tremor, Hypertension, Hypogonadism, Myoclonus, Dysphagia, ... ORPHA:97229
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paralysis, CSF pleocytosis,... ORPHA:140989
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Increased CSF lactate, Failure to thrive OMIM:612075
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphol... ORPHA:88619
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Inability to walk, Decreased thalamic volume OMIM:618646
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia ORPHA:2807
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Babinski sign, Gait disturbance, Myoclonus, Disinhibition, Apraxia OMIM:618193
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu... ORPHA:75233
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h... ORPHA:100083
Japanese Encephalitis
Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Abnormal thal... ORPHA:79139
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Impulsivity, Supernumerary nipple, Cryptorchidism, Coarctation of aorta,... OMIM:618929
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia, Congestive heart failure, Gait disturbance, Arrhythmia ORPHA:157973
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... ORPHA:31825
Ataxia-Telangiectasia
Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Female hypogonadism, Ataxia, T... OMIM:208900
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Congestive heart... OMIM:269920
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Hepatomegaly, Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyra... OMIM:300884
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Hypertonia, Attention deficit hyperactivity d... ORPHA:250994
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Atrophy/Degeneration affecting the brainst... OMIM:617862
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Paresthesia... ORPHA:298
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Focal T2 hyperintense ... OMIM:613724
Mirage Syndrome
Hypergonadotropic hypogonadism, Petechiae, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Pat... OMIM:617053
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Hypoglycorrhachia, Spa... OMIM:606777
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus, Hypot... ORPHA:649929
Cronkhite-Canada Syndrome
Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Anemia ORPHA:2930
Wyburn-Mason Syndrome
Cerebral palsy, Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morpholog... ORPHA:53719
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Alexander Disease
Death in infancy, Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Death in adolescen... OMIM:203450
Panhypophysitis
Decreased circulating cortisol level, Polydipsia, Orthostatic hypotension, Reduced circulating pr... ORPHA:95513
Cerebral Cavernous Malformations
Intracranial hemorrhage, Hepatic vascular malformations, Cerebral cavernous malformation OMIM:116860
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 hyper... ORPHA:254881
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Clonus, Olivopontocerebellar hypoplasia, Hypop... ORPHA:370959
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Microcytic anemia, Pulmonary ... ORPHA:774
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Cryptorchidism... OMIM:612541
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Focal T2 hyperintense thalamic lesion, Small for gestational age, Myoclonus OMIM:619057
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Hepatic steatosis, Broad-based gait, Hypergonadotropic hypogonadism, Sm... ORPHA:2959
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Precocious puberty, Tremor, Inability to walk, Abno... ORPHA:845
Focal Facial Dermal Dysplasia Type Iv
Hemiparesis, Hydrocephalus, Abnormal mast cell morphology, Intracranial hemorrhage ORPHA:398189
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge... ORPHA:276621
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Masa Syndrome
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Shuffling gait, Agenesis of... OMIM:303350
Congenital Toxoplasmosis
Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy, Cardiomegaly, Hydrocephalus, Jaundi... ORPHA:858
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Failure to thrive, Absence of lymph node germinal center, T lymphocytope... ORPHA:277
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Immunodeficiency 9
Death in infancy, Failure to thrive, Hypoplasia of the thymus, Difficulty walking OMIM:612782
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, T2 hypointense thalamus, Chorea, Babinski si... ORPHA:157846
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Ecchymosis, Paralysis, Hepatosplenomegal... ORPHA:2072
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Aceruloplasminemia
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, A... ORPHA:48818
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Increased serum serotonin, Truncal ataxia, Abnormal repetiti... OMIM:608636
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Inability to walk, Partial agenesis of the corpus callosum, Abnormal... ORPHA:300570
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, Bruxism, A... OMIM:619150
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Inability to walk, Ab... ORPHA:254930
Flynn-Aird Syndrome
Ataxia, Cachexia, Impaired pain sensation, Abnormality of the thyroid gland, Primary adrenal insu... ORPHA:2047
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Griscelli Syndrome
Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Jau... ORPHA:381
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly, Mitral ... ORPHA:309155
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titubation, Inability to walk... ORPHA:300605
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus, Failure to thrive, Jaundice OMIM:129850
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Small for gestational age, Clonus, Intraventricular hemorrhage, Spastic tetrapl... OMIM:619055
Joubert Syndrome 15
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Exencephaly OMIM:614464
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Increased CSF lacta... OMIM:616034
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Foc... ORPHA:79264
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
Leigh Syndrome
Chorea, Choreoathetosis, Neutropenia, Agenesis of corpus callosum, Ataxia, Abnormal brainstem MRI... ORPHA:506
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Abnormal brainstem morphology, Impaired pain sensation ORPHA:1532
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus ORPHA:1133
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Brain Small Vessel Disease 2
Hemiplegia, Intracranial hemorrhage, Spastic tetraplegia, Ventriculomegaly OMIM:614483
Sneddon Syndrome
Tremor, Chorea, Arterial stenosis, Hemiparesis, Intracranial hemorrhage, Hypertension ORPHA:820
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... OMIM:614063
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Distal sensory impairment, Increased CSF lactate OMIM:613710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity OMIM:616801
Fried Syndrome
Hydrocephalus, Gait disturbance, Spastic diplegia, Aggressive behavior ORPHA:85335
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... ORPHA:399
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... ORPHA:29072
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Small for gestational age, Decreased response to growth hormone stimulation test,... OMIM:609757
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume OMIM:619072
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Arrhythmia, Hepatic steatosis ORPHA:42
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia... ORPHA:248111
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Rett Syndrome
Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Abnormal T-wave, Spasticity, Prolon... OMIM:312750
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenome... ORPHA:507
Acute Disseminated Encephalomyelitis
Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Aggressive behavior,... ORPHA:83597
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Nasu-Hakola Disease
Hydrocephalus, Chorea, Acute leukemia, Disinhibition, Oculomotor apraxia, Spasticity, Ventriculom... ORPHA:2770
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss ORPHA:79238
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Abnormal brainstem MRI signal intensity, Congestive heart failure... ORPHA:444013
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Increased CSF lactate, Choreoath... OMIM:612126
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal... ORPHA:853
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
3P25.3 Microdeletion Syndrome
Ataxia, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Pulmonic stenosis, Ab... ORPHA:435638
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Pituicytoma
Decreased serum testosterone concentration, Pituicytoma, Decreased response to growth hormone sti... ORPHA:251623
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m... ORPHA:231160
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... OMIM:209950
Propionic Acidemia
Hepatomegaly, Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Failure t... OMIM:606054
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Lethal Congenital Contracture Syndrome 8
Death in infancy, Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment, Neo... OMIM:616287
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... ORPHA:33355
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Wilson Disease
Hepatomegaly, Aggressive behavior, Splenomegaly, Jaundice, Hypersexuality, Increased body weight,... ORPHA:905
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Jaundice, Spastic paraplegia, ... ORPHA:168577
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Anemia, Choreoathetosis, Cardiomyopathy, Stroke, Neutropeni... ORPHA:79312
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Abnormal repetitive manneris... OMIM:617695
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Inability to walk, Hydrocephalus, Spastic tetraplegia, Hypoplasia of the brainstem, Hyper... OMIM:618174
Butyrylcholinesterase Deficiency
Congestive heart failure, Abnormality of the liver, Myocardial infarction, Paralysis ORPHA:132
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Death in infancy, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiom... OMIM:608836
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Arteriovenous ... ORPHA:702
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neonatal Lupus Erythematosus
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Prolonged QT in... ORPHA:398124
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Vascular calc... OMIM:231000
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st... ORPHA:275761
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Stroke, Abnormal thalamus morphology ORPHA:557003
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive, Gait disturbance ORPHA:26
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia, Ventriculomegaly ORPHA:1933
Renpenning Syndrome
Diabetes mellitus, Decreased testicular size, Cachexia ORPHA:3242
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Spasticity, Babinski sign, Cachexia OMIM:618186
Joubert Syndrome 14
Encephalocele, Ataxia, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Hypopla... OMIM:614424
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... OMIM:214110
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dilated fourth ventricle, Spastic tetraplegia, Hypoplasia of the brainstem, Fus... OMIM:619306
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Failure to thrive, ... OMIM:251000
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Leu... ORPHA:520
Krabbe Disease
Autoimmune thrombocytopenia, Hydrocephalus, Hypertonia, Decerebrate rigidity, Progressive spastic... OMIM:245200
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Neu... ORPHA:79284
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Hematochezia, Paresthesia, Anemia OMIM:175500
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Abnormal heart rat... ORPHA:206436
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellu... ORPHA:391
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance ORPHA:98934
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Small for gestational age, Increased mean platelet volume, Sp... ORPHA:84064
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Giant Axonal Neuropathy
Babinski sign, Abnormal pituitary gland morphology, Unsteady gait, Distal sensory impairment, Fal... ORPHA:643
Hypophosphatasia, Infantile
Death in infancy, Anorexia, Intracranial hemorrhage, Stillbirth, Failure to thrive, Anemia OMIM:241500
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Self-mutilation ORPHA:52503
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone exces... OMIM:609981
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Attention deficit hyperactivity disorder, Compulsive behaviors, Vent... ORPHA:401986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... ORPHA:397596
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Attention deficit... ORPHA:261102
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Spastic tetraplegia, Self-injurious behavior, Hyperesthesia, Severe failure to thrive ORPHA:371364
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Abnormality of neutrophils, Hydrocephalus, Abnormal brainstem morphology, Hypertonia, Hyp... ORPHA:2720
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma... ORPHA:97289
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... ORPHA:37042
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Sec... ORPHA:91350
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Foxg1 Syndrome
Inability to walk, Abnormal repetitive mannerisms, Bruxism, Choreoathetosis, Hyperkinetic movemen... ORPHA:561854
Combined Oxidative Phosphorylation Deficiency 25
Hypoplasia of the pons, Intraventricular hemorrhage, Failure to thrive, Reduced circulating growt... OMIM:616430
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... ORPHA:244242
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Osteogenesis Imperfecta
Brain stem compression, Loss of ambulation, Ataxia, Gait disturbance, Umbilical hernia, Aortic re... ORPHA:666
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Rhabdoid Tumor
Cerebral palsy, Weight loss, Anemia, Lymphadenopathy, Neoplasm of the liver, Hypertension, Hemipl... ORPHA:69077
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Pineal cyst, Agenesis of corpus callosum, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Agenesis of corpus callosum, ... ORPHA:363958
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia, Conotruncal defect ORPHA:40366
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal sensory impairment, Paralysis OMIM:605285
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Pancytopenia, Ventriculomegaly, Death in infancy, Splenomegaly, ... OMIM:614576
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormality of... ORPHA:464329
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia, Tongue fasciculations, Ventriculomegaly OMIM:619851
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Cerebral palsy, Epistaxis, Spastic paraplegia, Abnormal circulating renin, I... ORPHA:369929
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos... OMIM:617237
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Impulsivity, Precocious puberty, Hypoplasia of the pons, Coarctatio... ORPHA:280195
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecc... ORPHA:99827
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Hemiplegia, Decreased proportion of C... OMIM:243700
Intellectual Developmental Disorder, Autosomal Recessive 41
Hepatomegaly, Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculome... OMIM:615637
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Small for gestational age, Splenomegaly, Hydrocephalus, Hypothyr... ORPHA:79332
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Pulmonary Blastoma
Weight loss ORPHA:64741
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... ORPHA:3260
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Leukopenia, Hypogonadism, ... ORPHA:1328
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hydrocephalus, Hypertension, Lower limb hypertonia, Increased me... ORPHA:2169
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal bleeding, Anemia ... ORPHA:75564
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsiv... ORPHA:404440
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Intraventricular hemorrhage, Cl... ORPHA:420741
Superficial Siderosis
Enlarged sylvian cistern, Abnormal cerebrospinal fluid morphology, Impaired temperature sensation... ORPHA:247245
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Coach Syndrome 2
Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fibrosis, Hepatic fibrosis, Ocul... OMIM:619111
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Hydrocephalus, Hypothalamic hamartoma, Anterior hypopi... OMIM:241800
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Hydrocephalus, Obesity, Cholestasis, Hepatic fibrosis, Oculomotor apr... OMIM:615630
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart fa... ORPHA:163596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Death in childhood, Left vent... OMIM:613153
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like... OMIM:185070
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Pituitary Carcinoma
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... ORPHA:300385
Familial Thrombocytosis
Acute myeloid leukemia, Abnormal bleeding, Miscarriage, Transient ischemic attack, Splenomegaly, ... ORPHA:71493
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... ORPHA:49566
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... ORPHA:90068
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypothyroidism, Hypoparathyroidism, Hy... ORPHA:567
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Hyd... ORPHA:974
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Tremor, Obesity, Hypogonadism, De... ORPHA:85293
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap... ORPHA:43
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Anorexia, Abnormality of the spleen, Abnormality of the par... ORPHA:2552
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural ... ORPHA:25
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom... OMIM:600348
Lethal Congenital Contracture Syndrome 7
Oral-pharyngeal dysphagia, Paralysis OMIM:616286
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Atherosclerosis, Cachexia, Weight loss ORPHA:1979
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Hemiparesis, Intracranial hemorrhage, Dandy-Walker malformation, V... ORPHA:2481
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Abnormal EKG, Abnormal central mo... ORPHA:3385
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Rhombencephalosynapsis
Fusion of the left and right thalami, Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:59315
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Self-mutilation, Hemolytic anemi... OMIM:619487
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
New-Onset Refractory Status Epilepticus
CSF pleocytosis, Increased CSF protein concentration, Abnormal thalamic MRI signal intensity ORPHA:363558
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Paralysis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytop... ORPHA:83601
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Clonus, Splenomegaly,... OMIM:259720
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Abnormal th... ORPHA:70595
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Ataxia, Hydrocephalus, Dysmetria, Hepatosplenomegaly, Telangiectasia,... ORPHA:93400
Idiopathic Bronchiectasis
Myocardial infarction, Cachexia ORPHA:60033
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia... OMIM:617435
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Ataxia, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Sp... OMIM:607625
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Facial paralysis, Failure to thr... OMIM:259700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Hydrocephalus, Ventriculomegaly OMIM:602501
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure, Hydrocephalus, Spastic tetraplegia, Macroorchidism OMIM:300886
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Myocardial infarction, Overweight, Tremor,... ORPHA:457240
Cerebral Visual Impairment
Cerebral palsy, Hydrocephalus, Clumsiness, Intracranial hemorrhage, Ischemic stroke, Attention de... ORPHA:447788
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... OMIM:619705
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Abnormal thalamic MRI signal intensity, Hypertonia, Prolonged n... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Abnormal thalamic MRI signal intensity, Hypertonia, Prolonged n... ORPHA:529799
Aspergillosis
Eosinophilia, Hepatitis, Intracranial hemorrhage, Stroke, Neutropenia ORPHA:1163
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Babinski sign, ... ORPHA:73256
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... OMIM:618048
Takayasu Arteritis
Hypertensive crisis, Anorexia, Myocardial infarction, Vascular dilatation, Vasculitis, Arterial s... ORPHA:3287
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Patent ductus arteriosus, Truncal a... OMIM:220220
Idiopathic Achalasia
Dysphagia, Weight loss ORPHA:930
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Dysphagia, Death in childhood OMIM:620278
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Dysphagia, Ascites ORPHA:2198
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff... ORPHA:98897
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... ORPHA:543
Xfe Progeroid Syndrome
Cachexia, Poor coordination, Death in adolescence, Ascites, Hypertension, Failure to thrive, Vent... OMIM:610965
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... OMIM:603909
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Abnormality of the endo... ORPHA:2356
Variegate Porphyria
Tachycardia, Paralysis OMIM:176200
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Spastic paraplegia, Hypoplasia of the brainstem OMIM:615191
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Facial par... OMIM:259710
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus, Abnormal left ventricular function, Cardiomyopathy, Hypoplasia ... OMIM:613155
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidis... ORPHA:514
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... OMIM:616084
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Obstructio... ORPHA:50251
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, CSF pleocytosis, Jaundice, Tetraplegia, Lymphadenopathy, Anem... OMIM:267700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebrospinal fluid accumulation, ... OMIM:618291
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Ataxia, Abnormal atrioventricular conduction, Spastic tetraparesis,... ORPHA:3208
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasi... OMIM:613179
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Spastic tetraparesis, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Obesity, Hypertoni... ORPHA:171839
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Dysphag... OMIM:207950
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Peripheral pulmonary artery stenosis, Adrenal hypoplasia, Hyp... OMIM:613177
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Horner Syndrome, Congenital
Paralysis OMIM:143000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... OMIM:175780
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Retinal arteriolar constriction, Atherosclerosis, Intention ... ORPHA:191
Tetrasomy 12P
Cachexia ORPHA:884
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Clumsiness, Agitation OMIM:300558
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, CSF pleocytosis, Jaundice, Tetraplegia, Hepatos... OMIM:603553
Tuberculosis
Weight loss ORPHA:3389
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Cryptorchidism, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behav... OMIM:618917
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation OMIM:616521
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem ORPHA:352682
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Hydrocephalus, Arteriosclerosis, Spasticity ORPHA:220295
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Blepharospasm, Abnorm... ORPHA:861
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... ORPHA:275864
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Hydrocephalus, O... ORPHA:500055
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hydrocephalus, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Cholesteryl Ester Storage Disease
Hepatomegaly, Death in infancy, Adrenal calcification, Bone-marrow foam cells, Portal hypertensio... OMIM:278000
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, Hydroce... ORPHA:1454
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Lynch Syndrome
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... ORPHA:144
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Rift Valley Fever
Abnormal bleeding, Miscarriage, Anorexia, Paralysis, Hematemesis, CSF pleocytosis, Paraparesis, J... ORPHA:319251
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus ORPHA:1516
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Cachexia, Failure to thrive, Supernumerary nipple ORPHA:217346
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Megaloblastic anemia, Pulmonary embolism, Hydrocephalus, Jaundice, Dilated cardiomyopathy... ORPHA:79282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog... ORPHA:297
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Pontocerebellar Hypoplasia, Type 7
Ataxia, Hypoplasia of the pons, Cryptorchidism, Hydrocephalus, Spastic paraplegia, Opisthotonus, ... OMIM:614969
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Hemiparesis, Intracranial hemorrhage, Arteriovenous mal... ORPHA:624
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Multiple Sulfatase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Hydrocephalus, Spasticity, Increased CSF protein concentratio... OMIM:272200
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ... ORPHA:2969
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Abnormality o... ORPHA:220497
Gm1 Gangliosidosis
Ataxia, Tremor, Splenomegaly, Patent ductus arteriosus, Unsteady gait, Congestive heart failure, ... ORPHA:354
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dysphagia, Paralysis OMIM:300857
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Ascites, Polycythemia ORPHA:284227
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Obesity, Premature ad... ORPHA:813
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Ataxia, Hypoplasia of the brainstem, ... OMIM:610688
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhag... ORPHA:109
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to ... ORPHA:86309
Alexander Disease
Diabetes mellitus, Ataxia, Clonus, Sudden cardiac death, Precocious puberty, Aqueductal stenosis,... ORPHA:58
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypoc... ORPHA:47612
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Ob... ORPHA:2183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Ataxia, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Colpocephaly... OMIM:619833
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... ORPHA:293978
Menkes Disease
Intracranial hemorrhage, Babinski sign, Hypertonia, Death in childhood OMIM:309400
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... OMIM:613239
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Kleeblattschaedel
Hydrocephalus OMIM:148800
Juvenile Polyposis Of Infancy
Refractory anemia, Abnormal bleeding, Gastrointestinal hemorrhage, Cachexia, Patent ductus arteri... ORPHA:79076
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss, Abnorm... ORPHA:99868
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Aortic valve stenosis, Spasticity OMIM:615599
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bickerstaff Brainstem Encephalitis
Ataxia, Dysesthesia, CSF pleocytosis, Babinski sign, Abnormal pyramidal sign, Abnormal thalamic M... ORPHA:79138
Parkes Weber Syndrome
Abnormal bleeding, Somatic sensory dysfunction, Peripheral arteriovenous fistula, Cerebral arteri... ORPHA:90307
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... OMIM:600795
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus OMIM:258320
Gracile Bone Dysplasia
Death in infancy, Failure to thrive, Asplenia, Hydrocephalus, Hypoplastic spleen, Ascites OMIM:602361
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, T lymphocytopenia, Autoimmune thrombocytopenia, Abnormali... ORPHA:391487
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Anemia, Intr... ORPHA:340
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Desmosterolosis
Rigidity, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous retur... ORPHA:35107
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Difficulty walking, Umbilical hernia,... ORPHA:536545
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... OMIM:616222
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly, Spasticity OMIM:304100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydrocephalus, Double ... OMIM:220210
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Unsteady gait, Pica, Fetal intraventricular hemorrhage, Spasticity, Recurrent hand flapping, Limb... OMIM:618480
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Dysphagia, Dandy-Walker malformation, Ventriculomegaly ORPHA:163961
Trisomy 18
Cachexia, Spina bifida, Cryptorchidism, Anencephaly, Hypertonia, Holoprosencephaly ORPHA:3380
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Anorexia, Leukocytosis, Weight loss, Hypertension, Agitation, Oral aversion... ORPHA:134
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Abnormality o... ORPHA:220493
Schwartz-Jampel Syndrome
Death in infancy, Cachexia, Blepharospasm, Pulmonary arterial hypertension, Hypertonia, Gait dist... ORPHA:800
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodu... ORPHA:142
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Orthostatic hypotension, Abscess, Suba... ORPHA:139417
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly ORPHA:2570
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Abnormal superior cerebellar peduncle morphology, Torticollis, Somatic ... ORPHA:370348
Niemann-Pick Disease, Type C1
Hepatomegaly, Ataxia, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Dyspha... OMIM:257220
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal a... ORPHA:91387
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
47,Xyy Syndrome
Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephal... ORPHA:8
Isaacs Syndrome
Fasciculations, Distal sensory impairment, Weight loss ORPHA:84142
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, O... ORPHA:199299
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy, Failure to thri... ORPHA:1842
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Gait disturbance, Ventriculomegaly ORPHA:272
Pettigrew Syndrome
Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Stereotypical hand wringing, Gait ataxia... OMIM:304340
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Hypertonia, Death in childhood, Umbilica... OMIM:612938
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity, Agenes... ORPHA:2182
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Pain insensitivity, Incoordination, Ataxia, Shock... ORPHA:90062
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Hepat... ORPHA:2388
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Unsteady gait,... OMIM:616682
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Glutaric Acidemia I
Hepatomegaly, Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral v... OMIM:231670
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... ORPHA:2905
Kaposi Sarcoma
Generalized lymphadenopathy, Venous insufficiency, Abnormality of the spleen, Weight loss, Abnorm... ORPHA:33276
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Hypertonia, Gait disturbance, Holoprosencephaly ORPHA:588
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Hematochezia, Dysphagia, Ascites, Anemia ORPHA:2070
Fanconi Anemia, Complementation Group B
Death in infancy, Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Hydrocephalu... OMIM:300514
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... ORPHA:97287
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla... ORPHA:97282
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Ataxia, Portal hypertensi... OMIM:615688
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... ORPHA:91347
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus, Gait disturbance, Hemiplegia, Umbilical hernia ORPHA:2181
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Anorexia, Spastic hemiparesis, Leukocyt... ORPHA:20
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:91355
Brucellosis
Liver abscess, Anorexia, Chorea, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis... ORPHA:1304
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Dysphag... OMIM:603041
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Babinski sign, Abnormal pyramidal sign, Spasticity ORPHA:397951
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hogue-Janssen Syndrome 2
Inability to walk, Hydrocephalus, Gait ataxia, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Fg Syndrome Type 1
Broad-based gait, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Umbilical hernia, Small pi... ORPHA:93932
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Molar tooth sign... OMIM:611134
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Spasticity, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Clumsiness, Compulsive behaviors, At... OMIM:619320
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Periodic paralysis, Weight loss, Palpitations, Goiter OMIM:188580
Medulloblastoma
Ataxia, Hydrocephalus, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar ataxia, Cerebella... ORPHA:616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hydrocephalus, Anemia ORPHA:53
Hypokalemic Periodic Paralysis
Paralysis, Impaired myocardial contractility, Respiratory paralysis, Adrenocortical adenoma, Peri... ORPHA:681
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Impaired temperature sensation, Precocious pub... ORPHA:398079
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hemiparesis, Arteriosclerosis, Hypertensi... ORPHA:494424
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia ORPHA:411593
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... ORPHA:64744
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Abnormal pyramidal sign, Atrioventricular block, Hypertonia, Loss of a... ORPHA:581
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Poliomyelitis
Anorexia, Paralysis, Paraparesis, Inability to walk, Hypertension, Hypovolemic shock, Hyperkineti... ORPHA:2912
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Hepatomegaly, Jaundice, Ly... ORPHA:276
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Hydrocep... OMIM:227646
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Right ven... ORPHA:100075
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Hematochezia, Self-injurious be... OMIM:619575
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Heart murmur, Anemia... ORPHA:163979
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated jugu... ORPHA:465508
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Small for gestational age, Cryptorchidism, Hydrocephalus, Truncal ataxia, ... OMIM:264090
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Brainstem dysplasia, Hydrocephalus, Hypo... OMIM:608091
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculom... OMIM:218350
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic a... ORPHA:35858
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Hemiplegia/hemi... ORPHA:440437
Monosomy 18Q
Left-to-right shunt, Bilateral cryptorchidism, Hypothyroidism, Hydrocephalus, Poor coordination, ... ORPHA:1600
Chronic Hiccup
Abnormal eating behavior, Weight loss ORPHA:396
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Athetosis, Neonatal death, Failure to thrive OMIM:311900
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Spasticity, Agenesis of corpus callosum OMIM:307000
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign,... ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign,... ORPHA:276241
Alobar Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93926
Lobar Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula... ORPHA:220386
Holocarboxylase Synthetase Deficiency
Anorexia, Ataxia, Thrombocytopenia, Weight loss ORPHA:79242
Ppoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Heart murmur, Myoclonus, Attention deficit ... OMIM:617600
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Raynaud phenomenon, Spastic diplegia, Lymphadenopathy, T lymphocytop... OMIM:607944
Rett Syndrome
Limb apraxia, Inability to walk, Increased CSF lactate, Bradykinesia, Gait disturbance, Cholecyst... ORPHA:778
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy... OMIM:242840
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Sple... ORPHA:53035
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Paresthesia, Eosinophilia, Weight loss ORPHA:3165
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Hypoplasia of the brainstem, Hydranencephaly, Dandy-Walker malformation,... OMIM:225790
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Right ven... ORPHA:100080
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Increased CSF protein concentration, Paralysis OMIM:612300
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Gait disturbance, Spasticity ORPHA:275543
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Opisthotonus, Chor... OMIM:619580
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... OMIM:615607
Gaucher Disease
Tremor, Cherry red spot of the macula, Abnormal bleeding, Hepatomegaly, Death in infancy, Ataxia,... ORPHA:355
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Obsessive-compu... OMIM:619908
Primary Ciliary Dyskinesia
Abnormal inferior vena cava morphology, Asplenia, Hydrocephalus, Anomalous pulmonary venous retur... ORPHA:244
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count OMIM:242860
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopat... ORPHA:50918
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia,... ORPHA:508533
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit h... ORPHA:216866
Glucagonoma
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... ORPHA:97280
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Eosinophilia, Myocardial infarcti... ORPHA:183
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Hydrocephalus, Spastic tetraplegia, Inappropriate laughter, Difficulty walking,... OMIM:618476
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Weight loss, Ascites, Decreased propor... ORPHA:90362
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Inability to walk, Hydrocephalus, Patent ductus arteriosus,... ORPHA:505248
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Holoprosencephaly
Encephalocele, Diabetes mellitus, Diabetes insipidus, Failure to thrive in infancy, Abnormality o... ORPHA:2162
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Hurler Syndrome
Hepatomegaly, Death in infancy, Cerebral palsy, Angina pectoris, Abnormality of the tonsils, Sple... ORPHA:93473
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Right ven... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Right ven... ORPHA:100082
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic ... ORPHA:284
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Emanuel Syndrome
Failure to thrive, Truncus arteriosus, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, H... ORPHA:96170
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Attention deficit hypera... ORPHA:647
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly, Abnormal cerebral vascular morphology ORPHA:2165
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetitive mannerisms... OMIM:619475
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus, Calcification of the aorta... OMIM:231005
Q Fever
Hepatomegaly, Pericarditis, Anorexia, Abnormal vascular morphology, Splenomegaly, Myocarditis, Va... ORPHA:781
Lethal Congenital Contracture Syndrome 5
Death in infancy, Small for gestational age, Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Emanuel Syndrome
Dandy-Walker malformation, Torticollis, Truncus arteriosus, Cryptorchidism, Hydrocephalus, Patent... OMIM:609029
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... OMIM:168605
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Brady... OMIM:137440
Edinburgh Malformation Syndrome
Hypertonia, Hydrocephalus, Failure to thrive ORPHA:1895
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
H Syndrome
Diabetes mellitus, Microcytic anemia, Hydrocephalus, Abnormal cardiovascular system physiology, H... ORPHA:168569
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Arteria lusoria, Abnormal T cell subset distribution, B lymphocytopenia, Positive Romberg... ORPHA:221139
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age, Gait disturbance OMIM:613330
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Absce... ORPHA:400
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign,... ORPHA:276244
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... ORPHA:90795
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Hydrocephalus, Hemiparesis, Gait disturbance, St... ORPHA:395
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Spinal dysraphism, Abnormal aortic mo... ORPHA:1926
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... OMIM:616433
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocell... ORPHA:65682
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Petechiae, Congestive hear... ORPHA:85450
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Pul... ORPHA:1908
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Anorexia, Sudden cardiac death, Mediastinal lymphadenopathy, Vas... ORPHA:397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem OMIM:615181
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Hydrocephalus, B... OMIM:607361
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Death in infancy, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Death ... OMIM:612301
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Impaired temperature sensation, Precocious puberty, Cryptorchidi... ORPHA:398069
Neuroblastoma, Susceptibility To, 1
Ataxia, Abdominal mass, Weight loss, Hypertension, Myoclonus, Failure to thrive, Anemia OMIM:256700
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Attention defic... OMIM:619121
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Central adrenal insufficiency, Small pituitary gland, Delayed pube... OMIM:612079
Joubert Syndrome With Oculorenal Defect
Encephalocele, Ataxia, Hydrocephalus, Molar tooth sign on MRI, Abnormality of the hypothalamus-pi... ORPHA:2318
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Unsteady gait, Subdural hemorrhage, Retinal hemorrhage, Premature cor... ORPHA:90324
Marfan Syndrome
Cachexia, Congestive heart failure, Descending aortic dissection, Meningocele, Dilatation of an a... ORPHA:558
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hep... OMIM:615846
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Patent ductus ar... OMIM:620005
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Weight loss, Ascend... ORPHA:449400
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Periportal fibr... OMIM:269860
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Hydrocephalus, Failure to thrive, Retinal telangiectasia OMIM:620157
Bresek Syndrome
Neonatal death, Cryptorchidism, Hydrocephalus, Decreased testicular size ORPHA:85284
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Weight loss, Abnormal liver parenchyma m... ORPHA:1332
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Leukemia OMIM:619951
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone m... ORPHA:101096
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Central Diabetes Insipidus
Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Dysplastic corpus cal... OMIM:617281
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Death in infancy, Cerebral palsy, Death in early adulthood, Cong... ORPHA:682
Joubert Syndrome
Encephalocele, Ataxia, Tremor, Hydrocephalus, Gait disturbance, Oculomotor apraxia, Abnormality o... ORPHA:475
Erythrokeratodermia Variabilis
Diabetes mellitus, Abnormal testis morphology, Weight loss ORPHA:317
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Pulmonary embolism, Hemiplegia/hemiparesis, ... ORPHA:394
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy ORPHA:26790
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar... OMIM:306955
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Hydrocephalus, Decreased body weight, Cholelithiasis, Double outlet rig... OMIM:614886
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Hydrocephal... OMIM:619512
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Polydipsia, Abnormal central motor function, Neoplasm of the anterior p... ORPHA:91351
Icf Syndrome
Communicating hydrocephalus, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia ORPHA:2268
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Prader-Willi Syndrome
Decreased response to growth hormone stimulation test, Impaired temperature sensation, Premature ... ORPHA:739
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... ORPHA:358
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Myocarditis, Thyroiditis, Hepatitis, Weight loss, Lymphadenopathy, ... ORPHA:139402
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:2655
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Hepatosplenomegaly, Umbilica... OMIM:309900
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Periodic paralysis, Splenomegaly, Melena, Ascites, Hyp... OMIM:276700
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Tenorio Syndrome
Cerebral palsy, Raynaud phenomenon, Hydrocephalus, Clumsiness, Syncope, Gait disturbance, Hypoins... OMIM:616260
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch morphology, Conotruncal defect, Abn... ORPHA:2306
Triploidy
Hepatomegaly, Cryptorchidism, Hydrocephalus, Meningocele, Abnormality of the pancreas, Abnormalit... ORPHA:3376
Norrie Disease
Failure to thrive, Diabetes mellitus, Clonus, Cachexia, Venous insufficiency, Cryptorchidism, Sel... ORPHA:649
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia OMIM:614219
Melanosis, Neurocutaneous
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Abnormal pyr... ORPHA:213
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Small for gestational age, Cryptorchidism, Hydrocephalus, Tetraplegia, Pulmonic... OMIM:257300
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Weight loss, Portal fibrosis, Hepat... OMIM:619377
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Impaired pain... OMIM:619005
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Increased ... ORPHA:500144
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia, Tetralogy of Fallot ORPHA:1335
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Postural hypotension with compensatory t... ORPHA:85443
Dextrocardia
Abnormal EKG, Abnormality of the spleen, Hydrocephalus, Abnormality of abdominal situs, T-wave in... ORPHA:1666
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia, Pancreatitis ORPHA:188
Multiple Sulfatase Deficiency
Splenomegaly, Hydrocephalus, Hepatomegaly ORPHA:585
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Hydrocephalus, Tongue thrusting, Hypertonia, Pulmonic stenosis, Oculomotor apraxia,... OMIM:115150
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegaly, Adrenal hy... OMIM:249000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Hemiplegia/hemiparesis, Congestive heart... ORPHA:579
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenome... OMIM:607014
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysi... ORPHA:79102
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Chorea, Arterial stenosis, Intracranial hemorr... ORPHA:565
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... ORPHA:60040
Coccidioidomycosis
Pericarditis, Eosinophilia, Abscess, Abnormality of the endocrine system, Abnormality of the sple... ORPHA:228123
Gitelman Syndrome
Prolonged QT interval, Salt craving, Ataxia, Paralysis, Ventricular tachycardia, Increased circul... OMIM:263800
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Telangiectasia, Umbilical hernia, Tetralogy of Fallot, A... OMIM:612582
Perry Syndrome
Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Hypotension ORPHA:178509
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, Extrahepatic cholestasis, Lymph... ORPHA:1333
Optic Pathway Glioma
Precocious puberty, Hydrocephalus ORPHA:2086
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Purpura, Pericarditis, Myocardial infarction, Rayna... ORPHA:91139
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus, Abnormality of the liver ORPHA:1834
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... OMIM:607459
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... ORPHA:1435
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst, Stroke,... OMIM:618188
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Thyroiditis, Weight loss, Iron deficiency anemia, Prolonged prothrombi... OMIM:212750
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, D... OMIM:613154
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Hypoplasia of... OMIM:253800
Stromme Syndrome
Accessory spleen, Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Andersen-Tawil Syndrome
Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi... ORPHA:37553
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function, Neutro... OMIM:277400
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Weight loss ORPHA:2902
3C Syndrome
Death in infancy, Ventriculomegaly, Adrenal hypoplasia, Hydrocephalus, Pulmonic stenosis, Aortic ... ORPHA:7
Nephronophthisis 18
Hypertension, Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Anorexia, Myocardial inf... ORPHA:117
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Salt craving, Orthostatic hypotension, A... ORPHA:95409
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Weight loss, Bradykinesia, Agitati... ORPHA:411602
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Unsteady gait, ... ORPHA:96121
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Bruis... OMIM:612940
Orofaciodigital Syndrome Type 6
Ataxia, Bilateral cryptorchidism, Tremor, Gait disturbance, Hypothalamic hamartoma, Molar tooth s... ORPHA:2754
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... ORPHA:171
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss, Lymphadenopathy ORPHA:2221
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor, Pituitary adenoma, R... ORPHA:805
Trisomy 1Q
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Agenesis of corpus callosum, Ventriculom... ORPHA:261344
Fanconi Anemia, Complementation Group R
Hydrocephalus, Bone marrow hypocellularity, Anemia OMIM:617244
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis,... OMIM:619381
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... ORPHA:171876
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Oculomotor apraxia, Dandy-Walker ma... OMIM:617822
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis ORPHA:230800
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Small for gestational age, Ataxia, Aggressive behavior, Inability to walk,... OMIM:617799
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Gait disturbanc... ORPHA:1812
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss ORPHA:33577
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Ataxia, Paralysis, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundi... OMIM:203700
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Cervical myelopathy, Cardiomy... OMIM:253200
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Hydrolethalus
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Anencephaly ORPHA:2189
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Transposition of the great arteries, Neonatal death, Persistent left superior vena... OMIM:314390
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Congestive heart failure, Hydrocephalus, Neonatal death, Pulmonary arterial hypert... OMIM:616482
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Foodborne Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Dysphagia, Arrhythmia ORPHA:228371
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the hypothalamus-pituitary axis, Spina bifid... ORPHA:84
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Aortic valve stenosis, Agenesis of corpu... ORPHA:459061
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Abnormality of the abdominal organs, Hydrocephalus, Coarctation of aort... ORPHA:2409
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Hypertonia, Holoprosencephaly, Hepatic steatosis, Self-m... OMIM:270400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Agenesis of corpus ca... ORPHA:77298
Orofaciodigital Syndrome Vi
Coarctation of aorta, Hypothalamic hamartoma, Molar tooth sign on MRI, Occipital meningocele, Fai... OMIM:277170
Cog2-Cdg
Spastic tetraplegia, Small pituitary gland ORPHA:435934
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia, Neonatal deat... OMIM:620351
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia, Anorexia ORPHA:1969
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Congenital Disorder Of Glycosylation, Type Iiq
Spastic tetraplegia, Small pituitary gland OMIM:617395
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Dysphagia, Clumsiness, Ankle clonus, Death in childhood, Tongue fas... OMIM:211530
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hypertonia, Ataxia, Hydrocephalus ORPHA:31
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Dysesthesia, Vocal cord paralysis, Jaw claudication, Weight loss, Sync... ORPHA:221098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplas... OMIM:614643
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the brainstem OMIM:615249
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Coarctation of aorta, Hemiparesis, Hypertonia, Aortic valve ste... ORPHA:2396
Congenital Disorder Of Deglycosylation 2
Ventriculomegaly, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Dysphagia OMIM:619775
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia ORPHA:1237
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Aqueductal stenosis, Cryptorch... OMIM:620305
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly, Hydrocephalus, Cardiomyopathy, Umbilical hernia OMIM:253220
Ventriculomegaly With Defects Of The Radius And Kidney
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Shuffling gait, Carotid arter... ORPHA:740
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Hemiplegia/hemiparesis, Dandy-Walker malformation, Ventriculomegaly ORPHA:1647
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Obstruction... ORPHA:99867
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Hydrocephalus, L... OMIM:612863
Familial Cerebral Cavernous Malformation
Venous malformation, Focal T2 hyperintense brainstem lesion, Focal T2 hypointense brainstem lesio... ORPHA:221061
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Telangiectasia of the skin, Decreased response to growth hormone stimulation ... OMIM:616007
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, ... ORPHA:363618
Monosomy 22
Hypertonia, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Porphyria, Acute Intermittent
Tachycardia, Paralysis, Hypertension, Respiratory paralysis, Paresthesia, Hepatocellular carcinoma OMIM:176000
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Abnormal circulating leptin concentration, Enlarged... ORPHA:2298
Williams Syndrome
Myocardial infarction, Cardiomegaly, Tremor, Abnormal cerebral vascular morphology, Dysmetria, Co... ORPHA:904
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Hypoplastic nipples, Spina bifida occulta ORPHA:2437
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulatin... OMIM:101800
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79444
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Weight loss, Constrictive pe... ORPHA:67
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Neonatal death, Intrahepati... OMIM:619534
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79443
Oromandibular Dystonia
Torticollis, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic movements, Bruxism ORPHA:93958
Trisomy 17P
Patent ductus arteriosus, Hydrocephalus, Hypertonia, Aortic valve stenosis ORPHA:261290
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Attention deficit hyperactivity disorder... ORPHA:250989
Witteveen-Kolk Syndrome
Branchial fistula, Hyperactivity, Small for gestational age, Unilateral cryptorchidism, Decreased... OMIM:613406
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Heart block, Hydrocephalus, Hepatic calcification, Renal tubular epit... ORPHA:228308
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Abnorm... ORPHA:464311
Desmosterolosis
Hydrocephalus, Partial agenesis of the corpus callosum, Patent ductus arteriosus, Total anomalous... OMIM:602398
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Cryptorchidism, Thrombocytopenia, Patent ductus art... ORPHA:79324
Crouzon Syndrome
Hydrocephalus ORPHA:207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Hydrocephalus, Hypoplasia of the brainstem, Agenesis of corpus c... OMIM:613150
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Poly... ORPHA:95427
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Myelomeningocele, Hydrocepha... OMIM:613686
Cockayne Syndrome A
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Hypertension, Thymic hormone decrease... OMIM:216400
Nephroblastoma
Neoplasm of the liver, Weight loss, Hypertension, Lymphadenopathy ORPHA:654
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... OMIM:619476
Amyotrophic Lateral Sclerosis
Spasticity, Agitation, Paralysis ORPHA:803
Distal Triplication 15Q
Large for gestational age, Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Hydr... ORPHA:314588
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Tremor, Splenomegaly, Hydrocephalus, Pulmonary artery stenosis, Lymphadenopathy, Pu... ORPHA:667
Rabin-Pappas Syndrome
Failure to thrive in infancy, Retinal telangiectasia, Hypoplasia of the pons, Hydrocephalus, Obesity OMIM:620155
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
8P23.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Obesity, Weight loss, Abnorm... ORPHA:251071
Hemangioblastoma
Dysesthesia, Hydrocephalus ORPHA:252054
Orofaciodigital Syndrome I
Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Ovarian cyst, Hypertensio... OMIM:311200
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly ORPHA:2211
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Dandy-Walker malformation OMIM:614846
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Spasticity, Holoprosencephaly, Annular pancreas, Failure to thrive... OMIM:147791
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Mitral regurgitation, Ventriculomegaly, Vascular ring OMIM:603387
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Dubowitz Syndrome
Hypoparathyroidism, Abnormality of neutrophils, Cryptorchidism, Hydrocephalus, Acute lymphoblasti... ORPHA:235
Pseudotrisomy 13 Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Coarctation of aorta, Holoprose... OMIM:264480
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Weig... ORPHA:100078
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Heart murmur, Pulmonary arterial hypertension, Failure t... ORPHA:3309
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Vocal cord paralysis, Chemodectoma, Adrenal pheochrom... OMIM:605373
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia OMIM:619036
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... ORPHA:268810
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... ORPHA:899
Cockayne Syndrome B
Hepatomegaly, Small for gestational age, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Hypertensi... OMIM:133540
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Renal tubular epithelial necrosis, Hepatic calcification, Cardiomyop... ORPHA:157
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Absent circulating ... OMIM:307200
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hyperactivity, Small for gestational age, Anterior pituitary hypoplasia, Cr... ORPHA:464306
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Spasticity ORPHA:1946
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Anemia, Weight loss ORPHA:324964
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi... OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... OMIM:236670
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Cryptorchidism, Hydrocephalus, Miscarriage ORPHA:1865
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Ventriculomegaly ORPHA:1860
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Babinski sign, Vocal cord paralysis, Gait a... ORPHA:268882
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Meckel Syndrome
Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts,... ORPHA:564
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Hyperactivity, Autoimmune hemolytic anemia, T lymphocytopenia, B lym... OMIM:251260
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Splenomegaly, Inability to walk... ORPHA:576
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Splen... ORPHA:580
Lateral Meningocele Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia, Aortic an... OMIM:130720
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Lymphadenopathy ORPHA:411703
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Pseudohypoaldosteronism, Hypertension OMIM:145260
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Premature vent... OMIM:602535
Seckel Syndrome
Cachexia ORPHA:808
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait ORPHA:2839
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Dysphagia, Weight loss, Anemia, Neutropenia, P... ORPHA:537
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Pseudohypoaldosteronism Type 2
Hypertension, Periodic paralysis ORPHA:757
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Cryptorchidism, Patent ductus arter... OMIM:206900
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Weight loss, Cardiomyopathy,... ORPHA:79430
Erdheim-Chester Disease
Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Congestive heart failure, Weight... ORPHA:35687
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Hajdu-Cheney Syndrome
Hepatomegaly, Mitral stenosis, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, Delayed pub... ORPHA:955
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of neutrophils, Myocardial infarction, Sudden cardiac de... ORPHA:36426
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Aortic regurgitation, Pancytopenia, Ataxia, Spastic paraplegia, Clum... ORPHA:309282
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Broad-based gait, Small for gestational age, Decreased response to growth h... ORPHA:268261
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Broad-based gait, Involuntary movements, Abnormality of the endocri... ORPHA:438213
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hydrocephalus ORPHA:163966
Fatal Familial Insomnia
Ataxia, Myoclonus, Dysphagia, Weight loss OMIM:600072
Neurofibromatosis Type 1
Ataxia, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Hydrocephalus, A... ORPHA:636
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Hypothyroidism, Arterial tortuosity, Patent duct... OMIM:619472
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Hypertension, Umbilical hernia ORPHA:1555
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Peho Syndrome
Hydrocephalus, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem ORPHA:2836
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Lymphoid Interstitial Pneumonia
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Pulmonary venous hype... ORPHA:79128
Endocrine-Cerebroosteodysplasia
Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Enlarged kidney, Agenesis o... OMIM:612651
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Hydrocephalus, Annular pa... OMIM:618162
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,... ORPHA:71273
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus OMIM:244400
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Renal tubular epithelial necrosis, Weight loss, Hydrocele testis, La... ORPHA:49041
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis ... OMIM:619895
Arachnoiditis
Hydrocephalus, Paresthesia ORPHA:137817
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Peripheral... OMIM:613001
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension ORPHA:767
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Periodic paralysis, Syn... OMIM:170390
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Hydrocephalus, Hydrocele testis, Ankle clonus, Umbilical hernia OMIM:613776
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Decreased response to growth hormone stimulation test, Pseudohypoparathyro... ORPHA:94089
Liposarcoma
Varicose veins, Paresthesia, Weight loss ORPHA:69078
Pyomyositis
Recurrent cutaneous abscess formation, Sudden cardiac death, Leukocytosis, Weight loss, Testicula... ORPHA:764
1P36 Deletion Syndrome
Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Abnormal repetitive manne... ORPHA:1606
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... ORPHA:449395
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... ORPHA:83617
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Apert Syndrome
Hydrocephalus, Ovarian neoplasm, Hypertension, Agenesis of corpus callosum, Ventriculomegaly ORPHA:87
Glioblastoma
Paralysis ORPHA:360
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Sarcoidosis
Abnormal cerebrospinal fluid morphology, Heart block, Increased T cell count, Ventricular tachyca... ORPHA:797
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Abnormality of the gallbladder, Abnormal mesentery morphology ORPHA:2075
Multiple Myeloma
Splenomegaly, Weight loss, Lymphadenopathy, Paresthesia, Anemia ORPHA:29073
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, Hydrocephalus... OMIM:261740
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pain insensitivity, Telangiectasia of the skin, Myocardial infarctio... ORPHA:679
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Stickler Syndrome
Hemiplegia/hemiparesis, Arrhythmia, Slender build, Cachexia ORPHA:828
Degcags Syndrome
Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, Agenesis of ... OMIM:619488
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... OMIM:608710
Peritoneal Cystic Mesothelioma
Peritonitis, Menorrhagia, Weight loss ORPHA:168816
Lhermitte-Duclos Disease
Hydrocephalus, Neoplasm of the thyroid gland, Ataxia, Ovarian neoplasm ORPHA:65285
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Unsteady gait, Hemiparesis, Brain stem co... ORPHA:637
Distal Renal Tubular Acidosis
Hemolytic anemia, Polydipsia, Failure to thrive, Paralysis ORPHA:18
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... OMIM:181000
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of... ORPHA:90003
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Attention deficit hyperac... OMIM:305450
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Hypertension, Aortic root aneurysm, Bruising suscep... OMIM:616914
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar tooth sign on MRI, Occipital menin... OMIM:616546
Inflammatory Bowel Disease 11
Hematochezia, Weight loss OMIM:191390
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Dysphagia ORPHA:684
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus, Spasticity OMIM:618590
Mend Syndrome
Hyperactivity, Aggressive behavior, Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Failure... ORPHA:401973
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Muenke Syndrome
Hydrocephalus ORPHA:53271
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Cirrhosis ORPHA:1546
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele ORPHA:2119
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Pallister-Hall Syndrome
Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Holoprosencephaly, Paroxy... ORPHA:672
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Umbilical hernia OMIM:601499
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation, Small pituitary gland, Ventriculomegaly OMIM:619479
Fanconi Anemia, Complementation Group L
Hydrocephalus, Bone marrow hypocellularity, Anemia, Attention deficit hyperactivity disorder OMIM:614083
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... OMIM:619503
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia ORPHA:52417
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Weight loss ORPHA:168811
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Right aortic arch, St... ORPHA:513456
Achondroplasia
Brain stem compression, Hydrocephalus, Death in infancy OMIM:100800
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic card... ORPHA:1340
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Pmm2-Cdg
Failure to thrive, Pericarditis, Hypogonadotropic hypogonadism, Ataxia, Elevated circulating grow... ORPHA:79318
Monosomy 9Q22.3
Hyperactivity, Ovarian fibroma, Large for gestational age, Hydrocephalus, Umbilical hernia, Ventr... ORPHA:77301
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Posterior pituitary agenesis... ORPHA:563612
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Fontaine Progeroid Syndrome
Death in infancy, Prominent superficial veins, Absent nipple, Small for gestational age, Tricuspi... OMIM:612289
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Lymphadenitis, Myocarditis, Weight loss, Anemia, Pancrea... ORPHA:31205
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Umbilical he... ORPHA:2166
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Involuntary movements, Neoplasm of the thymus, CSF ple... ORPHA:217253
Mend Syndrome
Hyperactivity, Cryptorchidism, Hydrocephalus, Hypertonia, Aortic valve stenosis, Failure to thriv... OMIM:300960
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplastic aortic arch, Agenesis ... ORPHA:457284
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Precocious puberty, Cryptorchidism, Hydrocephalus, A... OMIM:194190
Trisomy 8P
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Heart murmur, Aplasia/Hypopl... ORPHA:264450
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Anterior pituitary hypoplasia, Epistaxis, Aggressive behavior, Crypt... OMIM:619841
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Hydrocephalus, Aortic root aneurysm, Cardiomegaly OMIM:245600
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the anterior pituit... ORPHA:449563
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Cap Polyposis
Hematochezia, Weight loss ORPHA:160148
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Hypertonia, Hepatic steatosis, Age... ORPHA:3455
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss ORPHA:103910
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Absent nipple OMIM:104350
Knobloch Syndrome
Patent ductus arteriosus, Lymphangioma, Occipital encephalocele, Hydrocephalus ORPHA:1571
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Tetralo... OMIM:210710
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Decre... OMIM:619321
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Thoracic aortic aneurysm, Hydrocephalus, Ascending tubular aorta aneurysm, Aortic ro... ORPHA:536467
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Ataxia, Hypovolemia, Weight loss, Apraxia, Pancreat... ORPHA:99885
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Hypertonia, Subdural hemorrhage, Aggressive behavior OMIM:619714
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Apert Syndrome
Overriding aorta, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Hydrolethalus Syndrome 1
Accessory spleen, Anencephaly, Stillbirth, Adrenal gland dysgenesis, Severe hydrocephalus, Agenes... OMIM:236680
Inhalational Botulism
Paralysis ORPHA:254504
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess OMIM:600145
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytoma, Renal artery st... OMIM:162200
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus, Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus cal... OMIM:300373
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Failure to thrive, Hydrocephalus ORPHA:90652
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Hypoinsulinemia ORPHA:2126
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... ORPHA:143
Focal Myositis
Weight loss ORPHA:48918
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Vacterl With Hydrocephalus
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:3412
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus, Umbilical hernia, Aortic aneurysm OMIM:182212
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... OMIM:613795
Aymé-Gripp Syndrome
Pericarditis, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Breast hypoplasia, Ventric... ORPHA:1272
Cystinosis, Nephropathic
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenom... OMIM:219800
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Fraser Syndrome 3
Hydrocephalus, Ascites, Stillbirth OMIM:617667
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Abnormality of the lymphatic system, Lymphadenopathy,... ORPHA:538
Feingold Syndrome 1
Accessory spleen, Tricuspid stenosis, Asplenia, Patent ductus arteriosus, Vocal cord paralysis, P... OMIM:164280
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Ventriculomegaly OMIM:219730
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Exocr... ORPHA:2255
Raine Syndrome
Neonatal death, Death in infancy, Hydrocephalus OMIM:259775
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Anorexia, Orchitis, Raynaud phenomenon, W... ORPHA:48435
Kabuki Syndrome
Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity, Coarctation of aorta, Failure to thri... ORPHA:2322
Schinzel-Giedion Syndrome
Streak ovary, Failure to thrive in infancy, Annular pancreas, Choroid plexus cyst, Vocal cord par... ORPHA:798
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Yao Syndrome
Pericarditis, Weight loss OMIM:617321
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Cryptorchidism, Mitral regurgitation, Umbilical hernia, Failure to t... ORPHA:2462
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Anorexia, Lymphadenitis, Peritonitis, Thyroiditis, We... ORPHA:31204
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Parkinsonism, Weight loss OMIM:605543
Osteosarcoma
Weight loss ORPHA:668
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Aggressive behavior, Cryptorchidism, Hydrocephalus, Patent ductus a... OMIM:607872
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Short Syndrome
Diabetes mellitus, Weight loss ORPHA:3163
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Tremor, Dilated cardiomyopathy, Weight loss, Difficulty w... OMIM:164310
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Hydrocephalus ORPHA:221120
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi... OMIM:309801
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Hydrocephalus, Patent ductus ar... OMIM:312870
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Dysphagia, Paraganglioma, Weight loss ORPHA:97286
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Hypovo... ORPHA:90794
Hajdu-Cheney Syndrome
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Failure to thrive OMIM:102500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Hydrocephalus OMIM:273395
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... ORPHA:79078
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... ORPHA:221
Thakker-Donnai Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Agenesis of corpus callosum, Transposition of t... ORPHA:1780
Rheumatoid Arthritis
Vasculitis, Weight loss OMIM:180300
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Marden-Walker Syndrome
Hydrocephalus, Failure to thrive, Agenesis of corpus callosum, Attention deficit hyperactivity di... ORPHA:2461
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Basal Cell Nevus Syndrome 1
Hydrocephalus, Ovarian fibroma, Ovarian carcinoma, Spina bifida OMIM:109400
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries OMIM:313850
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Microphthalmia With Limb Anomalies
Death in infancy, Venous insufficiency, Cryptorchidism, Hydrocephalus, Failure to thrive ORPHA:1106
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum, Coarctation of aorta ORPHA:268249
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Tricuspid regurgitation, Cryptorchidism, Patent ductus arteriosus, Hydrocephal... ORPHA:261337
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Yunis-Varon Syndrome
Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopa... ORPHA:3472
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Gait disturbance, Hypogonadism, Anemia ORPHA:3042
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the liv... ORPHA:2369
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia,... ORPHA:2556
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Cryptorchidism, Hydrocephalus, Stillbirth, Short umbilical cord, Small... OMIM:208150
Tetrasomy 9P
Absent gallbladder, Hyperactivity, Juxtaductal coarctation of the aorta, Pericarditis, Raynaud ph... ORPHA:3310
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus OMIM:154400
Kabuki Syndrome 1
Hemolytic anemia, Premature thelarche, Autoimmune thrombocytopenia, Cryptorchidism, Hydrocephalus... OMIM:147920
Costello Syndrome
Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia, Failure to thrive, Lym... OMIM:218040
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Hydrocephalus,... OMIM:609192
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Large for gestational age, Gait ataxia, Difficulty walking, Slender ... ORPHA:457359
Acrodermatitis Enteropathica
Failure to thrive, Anorexia, Weight loss ORPHA:37
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Hydrocephalus, Mitral regurgitation, Granuloma, Pulmonic stenosis, Attentio... ORPHA:363700
Mohr Syndrome
Hydrocephalus OMIM:252100
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Gait ataxia, Ventriculomegaly, Large for gestational age OMIM:617011
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Myelomeningocele, Hydrocephalus, Abnormal thymus morphology OMIM:219000
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Congenital hypothyroidism, Abnormal pulm... ORPHA:709
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hypogonadism ORPHA:2658
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Campomelic Dysplasia
Hydrocephalus, Failure to thrive, Spina bifida, Spinal dysraphism OMIM:114290
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Biliary tract abnormality... OMIM:268300
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Focal Dermal Hypoplasia
Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myelomeningocele, Telangiectasia, Hypoplasti... OMIM:305600
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Dysphagia, Weight loss ORPHA:1018
Peters-Plus Syndrome
Bilobate gallbladder, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Biliary tract abno... OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Hypoplasia of the brainstem, Myoclonus, Spasticity, Ventriculomegaly OMIM:253280
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Right ventricular failure, Increased pulmonary vascular resistance, Calcification o... ORPHA:60025
Coffin-Siris Syndrome 12
Cryptorchidism, Hypothyroidism, Noncommunicating hydrocephalus, Tetralogy of Fallot, Heart murmur... OMIM:619325
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Renal tubular epithelial necrosis, Weight loss, Vitreous hemorrhage,... ORPHA:91500
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Parapa... ORPHA:573278
Autoimmune Pulmonary Alveolar Proteinosis
Foam cells, Weight loss ORPHA:747
Otopalatodigital Syndrome, Type Ii
Spina bifida, Cryptorchidism, Hydrocephalus, Stillbirth, Umbilical hernia, Dilatation of the sinu... OMIM:304120
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Anomalous splenoportal venous s... OMIM:218600
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Chronic Graft Versus Host Disease
Pancytopenia, Anorexia, Weight loss, Dysphagia, Ascites ORPHA:99921
Pineoblastoma
Pinealoma, Paralysis ORPHA:251909
Hypoplasminogenemia
Hydrocephalus, Abnormality of the ovary, Dandy-Walker malformation ORPHA:722
Oeis Complex
Cryptorchidism, Myelomeningocele, Hydrocephalus OMIM:258040
Townes-Brocks Syndrome 1
Small for gestational age, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Umbilical hernia, Te... OMIM:107480
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Dysphagia, Weight loss ORPHA:2020
Reactive Arthritis
Aortic regurgitation, Pericarditis, Weight loss ORPHA:29207
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Cystocele, Spina bifida ORPHA:322
Goodpasture Syndrome
Pulmonary hemorrhage, Anemia, Weight loss OMIM:233450
Craniofacial Microsomia 1
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Right aor... OMIM:164210
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004

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 Cycs

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 Cycs.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cycstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cycstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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