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Genes Phenotypes Help, News, Blog

Gene: Ptpn9 MGI:1928376

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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:
protein tyrosine phosphatase, non-receptor type 9
Synonyms:
Meg2

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 Ptpn9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ptpn9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Dk Phocomelia Syndrome
Encephalocele, Phocomelia, Thrombocytopenia OMIM:223340
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... OMIM:155100
Isolated Dandy-Walker Malformation
Encephalocele, Dandy-Walker malformation, Tetralogy of Fallot, Cleft palate ORPHA:217
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... OMIM:136760
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphosc... OMIM:614815
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Cocaine Embryofetopathy
Encephalocele, Hypertonia, Short distal phalanx of finger ORPHA:1911
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short s... ORPHA:1908
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... ORPHA:101030
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... ORPHA:2117
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth, Clinodactyly of the... ORPHA:521308
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft ORPHA:324416
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ataxia, Postaxial polydactyly, Hydrocephalus, Meningoc... OMIM:614424
Scalp Defects-Postaxial Polydactyly Syndrome
Encephalocele, Postaxial polydactyly type A ORPHA:1003
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Short stature, Toe syndactyly, Micrognathia, Hydroceph... OMIM:241800
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Kyphosis, Hydrocephalus, Patent ductus arteriosus, Platyspondyly, H... ORPHA:93274
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Joubert Syndrome 16
Encephalocele, Oculomotor apraxia, Polydactyly, Dandy-Walker malformation OMIM:614465
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, A... ORPHA:2585
Meckel Syndrome 13
Oculomotor apraxia, Occipital encephalocele, Ataxia, Micrognathia OMIM:617562
Griscelli Syndrome
Encephalocele, Ataxia, Short stature, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, De... ORPHA:381
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Abnormal cer... ORPHA:60015
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Progressive spastic quadriplegia OMIM:200130
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... OMIM:231200
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension... ORPHA:974
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Orbital encephalocele, Cleft palate, Agenesis of corpus callosum, Dan... OMIM:164180
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Severe short stature, Broad long bones, Micrognathia, Hy... OMIM:224400
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... OMIM:187800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Oculoauriculofrontonasal Syndrome
Encephalocele, Micrognathia, Cleft lip, Cleft palate, Scoliosis, Narrow mouth, Broad philtrum ORPHA:398156
Parietal Foramina 1
Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Parietal Foramina 3
Encephalocele OMIM:609566
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan... OMIM:619148
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Cl... OMIM:603194
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Spastic paraplegia OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Joubert Syndrome 9
Encephalocele, Oculomotor apraxia, Scoliosis, Ventriculomegaly OMIM:612285
Parietal Foramina 2
Encephalocele OMIM:609597
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... OMIM:277480
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Hydrocephalus, Cleft palate, Intracranial hemorrhage, Hemiparesis, Abnormal mast... ORPHA:398189
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Polydactyly OMIM:613885
Lissencephaly 8
Appendicular spasticity, Occipital encephalocele, Ventriculomegaly OMIM:617255
Joubert Syndrome 7
Encephalocele, Ataxia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Scoliosis,... OMIM:611560
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Ataxia, Portal hypertension, Splenomegaly, Postaxial hand... OMIM:216360
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Anencephaly, Abnormal form of the ... ORPHA:1590
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Postaxial polydactyly, Postaxial hand polydact... OMIM:614175
Dural Sinus Malformation
Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorr... ORPHA:97339
Pseudoprogeria Syndrome
Cranium bifidum occultum, Progressive spastic quadriplegia, Growth delay, Short stature ORPHA:2985
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Clonus, Hydrocephalus, A... ORPHA:370959
Craniotelencephalic Dysplasia
Frontal encephalocele, Agenesis of corpus callosum OMIM:218670
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Cleft palate, Orofacial cleft, Hand polydactyly, Sc... ORPHA:220497
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Severe short stature, Micrognathia, Short long... OMIM:224410
Leber Congenital Amaurosis
Encephalocele, Hemiplegia/hemiparesis ORPHA:65
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Cleft palate, Orofacial cleft, Hand polydactyly, Fo... ORPHA:220493
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Dandy-Walker m... OMIM:616300
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Petechiae, Epistaxis, In... OMIM:187900
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Intrauterine growth retardation, Agen... ORPHA:228390
Brain Small Vessel Disease 2
Spastic tetraplegia, Intracranial hemorrhage, Growth delay, Hemiplegia, Ventriculomegaly OMIM:614483
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Femur fracture, Micrognathia, Kyphosis, Subdural hemorrhage, Hip disl... OMIM:618291
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Encephalocel... OMIM:108720
Sneddon Syndrome
Cerebral hemorrhage, Tremor, Decreased circulating total IgM, Hypertension, Stroke, Ischemic stro... OMIM:182410
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Broad long bones, Micrognathia, Bowing of the legs, Hypoplas... ORPHA:1865
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele... OMIM:601357
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom... OMIM:153670
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Von Willebrand Disease
Venous insufficiency, Deviation of finger, Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Joubert Syndrome
Encephalocele, Ataxia, Tremor, Hydrocephalus, Orofacial cleft, Abnormal form of the vertebral bod... ORPHA:475
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Cleft palate, Unilateral cleft lip ORPHA:63862
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Aplasia/Hypoplasia of the tibia, Meningocele, Choroid plexus cys... ORPHA:1827
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, Ataxia, Parkinsonism, Paralysis, Paraparesis, Int... ORPHA:140989
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Paralysis, Recurre... ORPHA:36382
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardiogenic shock, I... ORPHA:449285
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Ataxia, Macrothrombocytopenia, Short philtrum, Neu... OMIM:603585
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Frontorhiny
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas... ORPHA:391474
Sneddon Syndrome
Tremor, Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension, Hemiparesis ORPHA:820
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, K... ORPHA:79329
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ... OMIM:607361
Joubert Syndrome 15
Oculomotor apraxia, Preaxial polydactyly, Ataxia, Exencephaly OMIM:614464
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat... ORPHA:397715
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Hypodontia, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation,... OMIM:620270
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of aorta ORPHA:280195
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Pai Syndrome
Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula ORPHA:1993
Pentalogy Of Cantrell
Encephalocele, Non-midline cleft lip, Hydrocephalus, Anencephaly, Abnormal tibia morphology, Orof... ORPHA:1335
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Prolonged bleeding time, Absent platelet dense granules, Thin upper lip vermilio... OMIM:608233
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Parkinsonism, Cerebral hemorrhage, Arterial stenosis, Intracranial hem... ORPHA:136
Fetal Gaucher Disease
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Stillbirth, High ... ORPHA:85212
Duplication Of The Pituitary Gland
Encephalocele, Lower limb spasticity, Thoracic scoliosis, Short stature, Supernumerary tooth, Abn... ORPHA:314621
Mirage Syndrome
Overlapping fingers, Short stature, Rocker bottom foot, Thrombocytopenia, Patent ductus arteriosu... OMIM:617053
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Lissencephaly 4
Short stature, Babinski sign, Growth delay, Colpocephaly, Hypertonia, Agenesis of corpus callosum OMIM:614019
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Cleft upper lip, Choroid plexus cyst... OMIM:603671
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Paraparesis, Hydrocepha... ORPHA:2356
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Cleft palate, Short f... OMIM:607597
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... ORPHA:906
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Hemiparesis, Dandy-Walker malformation, Ventriculomegaly ORPHA:2481
Pseudotrisomy 13 Syndrome
Encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe... OMIM:264480
Holoprosencephaly
Abnormality of the spleen, Deep philtrum, Chorea, Abnormal form of the vertebral bodies, Holopros... ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Transposition... OMIM:253800
Joubert Syndrome With Oculorenal Defect
Encephalocele, Ataxia, Hydrocephalus, Hand polydactyly, Foot polydactyly, Scoliosis ORPHA:2318
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... ORPHA:274
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... OMIM:618363
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Increased circulating IgE level, Grow... OMIM:243700
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Stroke, Dystonia, Spasticity ORPHA:542310
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Postnatal growth retardation, Hydrocephal... OMIM:605627
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Asplenia, Lobulated tongue, Agenesis of corpus callosum, D... OMIM:249000
Hypophosphatasia, Infantile
Abnormality of the dentition, Bowing of the legs, Vertebral clefting, Intracranial hemorrhage, Pl... OMIM:241500
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Enc... ORPHA:861
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Hyd... ORPHA:63259
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal... ORPHA:853
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Ataxia, Portal hypertension, Tremor, Splenomegaly, Hydrocephalus, Postax... ORPHA:1454
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Long p... ORPHA:280679
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Syndactyly, Tricuspid regurgitation, Bowing of the lo... OMIM:619879
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... ORPHA:169805
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Short stature, Cleft palate ORPHA:1791
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Myoclonus, Cerebral hemorrhage ORPHA:324708
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Hydrocephalus, Postaxial hand polydactyl... OMIM:608091
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus, Retrogna... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Scoliosis, Agenesis of... OMIM:613150
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea,... ORPHA:25
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Short... ORPHA:79443
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Small h... OMIM:300845
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hydrocephalus... ORPHA:90065
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Thin upper lip vermilion, Abnormal lateral ventricle morphology, Hyperextensibility of the finger... ORPHA:488635
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... ORPHA:167
Menkes Disease
Short stature, Metaphyseal spurs, Metaphyseal widening, Babinski sign, Intracranial hemorrhage, H... OMIM:309400
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Dentinogenesis Imperfecta
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Selective toot... ORPHA:49042
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Gian... OMIM:210250
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Abnormal... ORPHA:666
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Ane... ORPHA:887
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage, Paralysis OMIM:603285
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger, Clinodactyly OMIM:300049
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Adducted thumb, Long philtrum ORPHA:324422
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Cerebral palsy, Epistaxis, Abnormal cerebral vascular morpholog... ORPHA:53719
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... ORPHA:49566
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... ORPHA:324636
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radius, Subdural hemor... OMIM:311900
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Joubert Syndrome 8
Oculomotor apraxia, Occipital encephalocele, Hypertonia, Ataxia OMIM:612291
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Hemiparesis, Arteriovenous mal... ORPHA:624
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... OMIM:612284
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Frontonasal Dysplasia 2
Encephalocele, Conical tooth, Widely spaced teeth, Intrauterine growth retardation, Broad philtrum OMIM:613451
2,4-Dienoyl-Coa Reductase Deficiency
Incoordination, Ataxia, Clonus, Hydrocephalus, Tetraplegia, Choreoathetosis, Colpocephaly, Dyston... OMIM:616034
Aspergillosis
Sinusitis, Eosinophilia, Increased circulating IgE level, Intracranial hemorrhage, Abnormal long ... ORPHA:1163
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Short stature, Rocke... ORPHA:163979
Propionic Acidemia
Pancytopenia, Dystonia, Short stature, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, N... OMIM:606054
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abdo... ORPHA:91387
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... ORPHA:2211
Non-Functioning Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:94080
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... OMIM:277450
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... ORPHA:99828
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Aplasia/Hy... ORPHA:306542
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Postaxial hand polydact... ORPHA:2166
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Short palm, Thoracic scoliosis, Ataxia, Short stature, Tremor, Small hand, Dysmetria, Gait ataxia... OMIM:610185
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Kaposiform Lymphangiomatosis
Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol... ORPHA:464329
Cerebral Visual Impairment
Cerebral palsy, Hydrocephalus, Clumsiness, Intracranial hemorrhage, Ischemic stroke, Oculomotor a... ORPHA:447788
Limb Body Wall Complex
Encephalocele, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida,... ORPHA:2369
Pseudo-Torch Syndrome 2
Ventriculomegaly, Cerebral hemorrhage, Thrombocytopenia, Patent ductus arteriosus, Lateral ventri... OMIM:617397
Spondyloenchondrodysplasia
Bowing of the legs, Chorea, Abnormal lateral ventricle morphology, Short stature, Autoimmune thro... ORPHA:1855
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Meckel Syndrome
Encephalocele, Accessory spleen, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micr... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Cleft upper lip, Micrognathia, Meningoencephalocele, H... OMIM:236670
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... ORPHA:2911
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Exaggerated cupid's bow, Ataxia, Cerebral palsy, Micrognathia, Short ... OMIM:619833
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
4Q21 Microdeletion Syndrome
Toe syndactyly, Abnormality of the dentition, Tremor, Kyphosis, Small hand, Downturned corners of... ORPHA:238750
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Short stature, Asplen... OMIM:185070
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Band Heterotopia
Hydrocephalus, Lateral ventricle dilatation, Spasticity, Agenesis of corpus callosum, Ventriculom... OMIM:600348
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Ventriculomegaly, Dental crowding, Short stature, Persistence of primary teeth, Micrognathia, Tre... OMIM:618342
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Micro... OMIM:615948
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Cleft upper lip, Pulmonary artery stenosis, Cleft palate, Hyperten... OMIM:100300
Parkes Weber Syndrome
Abnormal bleeding, Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cere... ORPHA:90307
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Deep philtrum, Hydrocephalus, Orofacial cleft, Lobar h... OMIM:609637
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Menkes Disease
Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Micrognathia, Venous in... ORPHA:565
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Noonan Syndrome
Abnormal bleeding, Short stature, Micrognathia, Abnormality of the spleen, Pulmonary artery steno... ORPHA:648
Pagod Syndrome
Encephalocele, Short stature, Sudden cardiac death, Spina bifida, Abnormality of the spleen, Meni... ORPHA:991
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Intraventricular hemorrhage, Spastic tetraplegia, Prolonged prothrombin time, Myoclonus, ... OMIM:619055
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Growth delay, Colpocephaly, H... OMIM:620156
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Scoliosis, Dystonia ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Colpocephaly OMIM:614870
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Lower limb spasticity, Dystonia, Ataxia, Paraparesis, Oromotor apraxia,... OMIM:617854
Joubert Syndrome 39
Oculomotor apraxia, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polyd... OMIM:619562
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Ataxia, Abnormal dental enamel morphology, Open bite, Cario... ORPHA:10
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Hyperlordosis, Tremor, Arterial stenosis, Cerebral artery atherosclerosis, Hyperte... ORPHA:1192
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Ataxia, Pulmonary embolism, Megaloblastic anemia, Hydrocephalus, Dilated cardiom... ORPHA:79282
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later... ORPHA:363654
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Glossoptosis, Vertebral segmentation defect, High palate, Short... OMIM:611209
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P... ORPHA:284227
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Ataxia, Splenomegaly, Oculomotor apraxia, Chronic sinusitis OMIM:615636
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Abnormality of dental color, Dental crowding, Micrognathia, Hypo... ORPHA:37553
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Scoliosis OMIM:217100
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Epistaxis, Spastic paraplegia, Intracranial hemorrhage, Hypertension, Second degr... ORPHA:369929
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Dystonia, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athet... OMIM:617710
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... ORPHA:99827
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Thin upper lip vermilion, Short stature, Fetal intraventricular hemorrhage, High palate, Clinodac... OMIM:618480
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, Apraxia, Spasticity OMIM:615889
Classic Homocystinuria
Gastrointestinal hemorrhage, Dental crowding, Arachnodactyly, Pulmonary embolism, Hemiplegia/hemi... ORPHA:394
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, High palate, Phocomelia, Hyperplasia of the maxilla, Accessory spl... OMIM:268300
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, Sandal gap, High... OMIM:612863
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... OMIM:259710
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Cerebral palsy, Sandal gap, Micrognathia, 2-3 toe syndactyly, Lateral vent... OMIM:618914
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Spina bifida, Postnatal growth retardation, Short thumb, Pat... OMIM:192350
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Dystonia, Ataxia, Rhizomelia, Micrognathia, Tremor, Congestive heart failure, ... OMIM:616271
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Tremor, Chorea, Downturned corners of mouth, ... OMIM:601808
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... ORPHA:96264
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Micrognathia, Tremor, Babinski si... OMIM:300055
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Paraparesis, Rigidity, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Central Neurocytoma
Hydrocephalus, Babinski sign, Ataxia, Abnormal lateral ventricle morphology ORPHA:73256
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Myelomeningocel... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Medulloblastoma
Ataxia, Cerebellar hemorrhage, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebella... ORPHA:616
Knobloch Syndrome 2
Encephalocele, Patent ductus arteriosus, Enamel hypoplasia, Micrognathia OMIM:618458
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, H... OMIM:614381
Distal Deletion 10Q
Clonus, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, High palate, ... ORPHA:96148
Pyruvate Dehydrogenase Deficiency
Dystonia, Ataxia, Cerebral palsy, Tremor, Abnormal pyramidal sign, Osteolytic defects of the midd... ORPHA:765
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel... ORPHA:1946
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Short stature, Micrognathia, Narrow palate, Telangiectasia, Intracranial hemorrh... ORPHA:109
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Tricuspid regurgitation, Sh... OMIM:253200
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Short stature, Patent ductus arteriosus, Poor fine motor coordination, ... OMIM:618330
Halperin-Birk Syndrome
Micrognathia, Hip dislocation, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Thick ver... OMIM:618651
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Choreoathetosis, Cardiomyopathy, Leukop... ORPHA:27
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Tapered finger, Intraventricular hemorrhage, Hydrocepha... OMIM:613603
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Kyphosis, Scoliosis ORPHA:99014
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... OMIM:618736
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Short stature, Thin long bone diaphyses, Kyphoscoliosis, Intraventricular hemorrha... OMIM:616507
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Hemiparesis, Stroke, Total a... ORPHA:494424
Gm1 Gangliosidosis
Mandibular prognathia, Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Cherr... ORPHA:354
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Proximal placement of thumb, Clinodactyly of the 5th toe, Postnatal growth retarda... OMIM:620113
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia OMIM:618886
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyram... ORPHA:397946
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Leukocyte Adhesion Deficiency
Abnormal bleeding, Acute myeloid leukemia, Sinusitis, Severe periodontitis, Polycythemia, Short s... ORPHA:2968
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Short stature, Parkinsonism, Kyphoscoliosis, Tremor, Conge... ORPHA:3077
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Ventriculomegaly, Proximal placement of thumb, Micrognathia, Kyphosis, Dilated c... ORPHA:261250
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Intracranial hemorr... ORPHA:740
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Intestinal bleeding, Ataxia, Short statu... OMIM:612199
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Clinodactyly, Intracranial hemorrhage, Short ph... OMIM:613406
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic... OMIM:277590
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... OMIM:618060
Kyphoscoliotic Ehlers-Danlos Syndrome
Congenital hip dislocation, Short stature, Arachnodactyly, Cerebral hemorrhage, Micrognathia, Con... ORPHA:536545
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Malar flattening, Bifid uvula, Hypopl... OMIM:229400
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Macrodontia, Downturned corners of mouth, Tooth agenesis, Colpocephaly, S... OMIM:618731
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:276621
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mou... OMIM:613443
Fraser Syndrome
Encephalocele, Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Myelomeningoc... ORPHA:2052
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Dilation of Virchow-Robin spaces, Partial a... OMIM:619517
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Ventriculomegaly, Tapered toe, Tapered finger, Long fingers, Dilated cardiomyopathy, Na... OMIM:608836
Martsolf Syndrome 2
Overlapping toe, Short stature, Camptodactyly of finger, Spastic diplegia, Lateral ventricle dila... OMIM:619420
Den Hoed-De Boer-Voisin Syndrome
Tremor, Widely spaced teeth, Amelogenesis imperfecta, Ataxia, 2-3 toe syndactyly, Upper limb spas... OMIM:619229
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Ataxia, Subarachnoid hemorrhage, Babinski sign, Abno... ORPHA:247245
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth... OMIM:607483
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Hip dysplasia, Scoliosis OMIM:302802
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Impaired T cell function, Pu... OMIM:613179
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature, Coxa valga,... OMIM:269300
Craniosynostosis 6
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... OMIM:616602
Knobloch Syndrome 1
Occipital encephalocele, Ataxia, Patent ductus arteriosus, Occipital meningocele, Spina bifida oc... OMIM:267750
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Involuntary movements, Myocardial infa... ORPHA:90068
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachydactyly, Short stature, Dextrotransposition of the great arteries, Ankle clonus, Lower limb... OMIM:619995
Combined Oxidative Phosphorylation Deficiency 25
Smooth philtrum, Syndactyly, Short stature, Intraventricular hemorrhage, Long philtrum, Ventricul... OMIM:616430
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Postnatal growth r... ORPHA:300570
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... ORPHA:3260
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Limb ataxia, Hand tremor, Lateral ventricle dilatation, Tongue fasciculations, Fasciculat... OMIM:607596
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneov... ORPHA:3078
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Prominen... ORPHA:565624
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Intracranial... ORPHA:340
Joubert Syndrome 5
Oculomotor apraxia, Occipital encephalocele, Ataxia, Cleft palate OMIM:610188
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Paraparesis, Rigidity, Babinski sign, Spastic parapleg... OMIM:606693
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Involuntary movements, Cleft palate, Shorte... OMIM:615716
Bilateral Generalized Polymicrogyria
Short stature, Oculogyric crisis, Spastic tetraplegia, Eyelid myoclonus, Growth delay, Lateral ve... ORPHA:208447
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping... ORPHA:96263
Fanconi Anemia, Complementation Group I
Short stature, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius, Fused c... OMIM:609053
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Thin upper lip vermilion, Ventriculomegaly, Ataxia, Tremor, Spastic tet... ORPHA:572798
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Growth delay, Neutropenia, Stoma... ORPHA:79284
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Dilated t... ORPHA:464738
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... OMIM:208900
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, High, narrow palate, Increased cir... OMIM:619472
Pontocerebellar Hypoplasia, Type 12
Overlapping fingers, Lateral ventricle dilatation, Rocker bottom foot, Micrognathia OMIM:618266
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Patent ductus arteriosus, Lateral ventricle dilatation, Scoliosis, Umbi... OMIM:617751
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Spastic tetraparesis, Micrognathia, Lateral ventricle dilatation, Hypertonia, Myoclonus, Intraute... ORPHA:284417
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Frequent falls OMIM:302800
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Agenesis of corp... OMIM:164210
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Short stature, Intraventricular hemorrhage, Telangiectasia, ... ORPHA:420741
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly, Spin... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly, Spin... ORPHA:363958
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Progressive spastic paraplegia, Colpocephaly, Spastic gait, Limb hypertonia ORPHA:401815
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Incoordination, Ataxia, Slurred speech, He... ORPHA:90062
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Carious teeth, Splenomegaly, Kyphosis, Subdural hemorrhage, Re... ORPHA:90324
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Dysplastic corpus callosum, Colpocephaly, Microdontia, Agenesis... OMIM:619955
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Protruding tongue, Gingival overgrowth, O... OMIM:620352
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Paraparesis, Abnormal natural kille... ORPHA:79124
Adams-Oliver Syndrome 2
Micrognathia, Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle ... OMIM:614219
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... OMIM:164200
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Cervical spondylosis ORPHA:101005
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Cach Syndrome
Spastic diplegia, Limb ataxia, Dysmetria, Hepatosplenomegaly, Hemiparesis, Growth delay, Lateral ... ORPHA:135
Orofaciodigital Syndrome Type 1
Micrognathia, Tremor, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Agenesis of ... ORPHA:2750
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Syndactyly, Short ... OMIM:311200
Slc35A2-Cdg
Short stature, Camptodactyly of finger, Spastic tetraparesis, Coxa valga, Metatarsus adductus, Sh... ORPHA:356961
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpitations, Positi... ORPHA:29072
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Absent thumb, Vascular dilatation, Absent radius, Hydrocephalus, Lateral ven... OMIM:602200
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Khan-Khan-Katsanis Syndrome
Ventriculomegaly, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Tented... OMIM:618460
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Thin vermilion border, Bradycardia, Camptodacty... OMIM:610015
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Lateral ventricle dilatation, Short palm OMIM:300982
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Dystonia, Intraute... ORPHA:79243
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesis, Ventriculom... OMIM:617186
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Macrodontia, Clubbing, Gait ataxia, Lateral ventricle dilatation, High ... OMIM:618606
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Mandibular prognathia, Dental crowding, Ataxia, Short stature, Arachnodactyly, Open bite, Coxa va... OMIM:620083
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft ORPHA:141091
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Hyposegmentation of neutrop... OMIM:620075
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Mosaic Trisomy 1
Thoracic scoliosis, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, Absent distal... ORPHA:1692
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Arachnodactyly, Tremor, Stroke-like episode, Intracranial hemorrha... ORPHA:86309
Hydranencephaly
Ventriculomegaly, Abnormal internal carotid artery morphology, Postnatal growth retardation, Dila... ORPHA:2177
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Limited mobility of proximal interpha... OMIM:222300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Ataxia, Tremor, Growth delay, Hypertension, Intrauterine growth retardation, A... OMIM:614052
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Thoracic scoliosis, Cerebral hemorrhage, Subdural hemorrhage, High palate OMIM:620278
Malan Overgrowth Syndrome
Slender long bone, Lateral ventricle dilatation, High palate, Scoliosis, Narrow mouth, Episodic a... ORPHA:420179
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Weiss-Kruszka Syndrome
Ventriculomegaly, Exaggerated cupid's bow, Proximal placement of thumb, Dextrotransposition of th... OMIM:618619
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Paraparesis, Frac... OMIM:602080
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dilation of Virchow-Robin spaces, Dystonia, Cerebral hemorrhage, Retinal arteri... OMIM:175780
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Tented upper lip vermilion, Progressive spasticity, Long philtrum OMIM:619972
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Congestive heart failure, Paraparesis, Spinal arteriovenous malformation, Arterio... ORPHA:53721
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Thin upper lip vermilion, Short stature, Subdural hemorrhage, Hypertonia, ... OMIM:619714
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, High palate, Bifid uvula, Abdominal aortic aneurysm, Arachnodactyly, ... OMIM:613795
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Splenomegaly, Diap... OMIM:232300
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Short stature, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Lateral ... OMIM:619847
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Micrognathia, Abnormality of the d... OMIM:617557
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Partial agenesis of the corpus callosum, Delayed epiphyseal ossification, Preaxial ... OMIM:210710
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Abnormality of the sphenoid sinus, Hydrocephalus ORPHA:91350
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Portal hypertension, Spastic tetraparesis, Spastic tetraplegia, S... OMIM:619487
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Micrognathia, Metatarsus adductus, Splenomegaly, W... OMIM:614866
Noonan Syndrome 14
Aortic regurgitation, Short stature, High, narrow palate, Clinodactyly, Kyphosis, Wide mouth, Lat... OMIM:619745
Cerebrotendinous Xanthomatosis
Resting tremor, Abnormality of the vertebral spinous processes, Dystonia, Ataxia, Parkinsonism, P... ORPHA:909
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Babinski sign... OMIM:128100
Bartter Syndrome, Type 2, Antenatal
Short stature, Impaired platelet aggregation, Low-to-normal blood pressure OMIM:241200
Cockayne Syndrome A
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, ... OMIM:216400
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Alexander Disease
Ataxia, Clonus, Sudden cardiac death, Hyperlordosis, Tremor, Aqueductal stenosis, Chorea, Hydroce... ORPHA:58
Prader-Willi Syndrome Due To Translocation
Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Bifid uvu... ORPHA:177907
Rift Valley Fever
Abnormal bleeding, Paralysis, Hematemesis, Paraparesis, Retinal hemorrhage, Melena, Increased cir... ORPHA:319251
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Broad hallux, Lateral ventricle dilatation, High palate, Short philtr... OMIM:614105
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micrognathia, Partial agenesis of the corpus callos... OMIM:270400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Lateral ventricle dilatation, Myoclonus, Apraxia, Spasticity OMIM:221770
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Tremor, Sple... OMIM:214500
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Alobar holoprosencephaly, Patent ductus arteriosus, Submucous cle... OMIM:301043
Glutaric Acidemia I
Rigidity, Hydrocephalus, Spastic diplegia, Opisthotonus, Choreoathetosis, Lateral ventricle dilat... OMIM:231670
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Micrognathia, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation OMIM:600721
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Cerebral hemorrhage, Hydrocephalus, He... ORPHA:2495
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Splenomegaly, Hydrocephalus, Growth delay, Decreased circulating total IgM, Later... OMIM:612301
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt... OMIM:615873
Orofaciodigital Syndrome Type 2
Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, High palate, Short... ORPHA:2751
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... ORPHA:3472
Aceruloplasminemia
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Congestive h... ORPHA:48818
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Short stature, Deep philtrum, Patent ductus arteriosus, Coarctation of aorta, W... OMIM:617260
Acute Transverse Myelitis
Orthostatic hypotension, Abscess, Subarachnoid hemorrhage, Paraparesis, Babinski sign, Paraplegia... ORPHA:139417
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Lateral ventricle dilatation, Hig... OMIM:619244
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Short stature ORPHA:90795
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Ataxia, Lateral ventricle dilatation, Oculomotor apraxia, Open ... OMIM:608629
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100006
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Partial agenesis of the corpus callosum, Spastic paraplegia, Lower limb hyperton... OMIM:617296
Cog5-Cdg
Short stature, Camptodactyly of finger, Hepatosplenomegaly, Finger clinodactyly, Genu valgum, Lat... ORPHA:263487
Paganini-Miozzo Syndrome
Mandibular prognathia, Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion ... OMIM:301025
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Arachnodactyly, Micrognathia, Gingival overgrowth, Wid... OMIM:615485
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, P... OMIM:606002
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Spina bifida, Cleft upper lip, Postnatal growth re... OMIM:304050
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Ataxia, Delayed eruption of primary teeth, Carious t... OMIM:133540
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Premature loss of primary teeth, Tremor, Spl... ORPHA:667
Farber Disease
CNS foam cells, Short stature, Paraparesis, Short toe, Hepatosplenomegaly, Anemia, Myoclonus, Sho... ORPHA:333
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Syndactyly, Abnormal lateral ventricle morphology, Sh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Syndactyly, Abnormal lateral ventricle morphology, Sh... ORPHA:353277
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilation of Virchow-Robin spaces, Tapered toe, Tapered finger, Dysplastic corpus callosum, Retrog... ORPHA:544488
Aicardi-Goutières Syndrome
Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramidal muscular rigidity, Short stature, Ray... ORPHA:51
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Wide anterior fontanel, Submucous c... ORPHA:457279
Acys Amyloidosis
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Wide mouth, Growth delay, Lateral ventricle dilatation, Thick vermilion bo... ORPHA:85290
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Tremor, High, narrow palate, Short philtrum, Widely spaced teeth, Ataxia, Patent... OMIM:300967
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Schistocytosis, Stroke... OMIM:274150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Decreased ... ORPHA:500150
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Paraparesis, Lateral ventricle dilatation, Abnorma... ORPHA:2822
Gaucher Disease
Abnormal bleeding, Pancytopenia, Ventriculomegaly, Ataxia, Short stature, Tremor, Splenomegaly, H... ORPHA:355
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Short stature, Junctional ectopic tachycardia, Hydrocephalus, Cleft palate, Col... OMIM:309801
Williams Syndrome
Myocardial infarction, Abnormal cerebral vascular morphology, Micrognathia, Tremor, Dysmetria, Ab... ORPHA:904
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Delayed eruption of primary teeth, Dilated cardiomyopathy, Ventricular tachycardi... OMIM:300952
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia OMIM:300100
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Cerebral hemorrhage, Hypoplastic philtrum, Patent ductus arteriosus, Scoliosis, ... OMIM:616682
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Short lingual frenulum, Bowed humerus, Lateral ventricle dilatatio... OMIM:619479
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus ORPHA:199244
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral palsy, Dilation of Virchow-Robin spaces, Poor gross motor coordination, Lateral ventricl... ORPHA:2148
Wiedemann-Rautenstrauch Syndrome
Tremor, Downturned corners of mouth, Hypoplastic vertebral bodies, Hypertonia, Short philtrum, Pr... ORPHA:3455
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Patent ductus arteriosus, Growth delay, Hypertonia, Bradycardia, Neutro... OMIM:617248
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricle dilatation, Sh... OMIM:619575
Poliomyelitis
Paralysis, Paraparesis, Hypertension, Hypovolemic shock, Hyperkinetic movements, Fasciculations, ... ORPHA:2912
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postax... OMIM:263520
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Clonus, Abnormality of canine, Tapered finger, Short thumb, Lower limb ... ORPHA:477993
Sacral Defect With Anterior Meningocele
Myeloschisis, Hemisacrum, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Recta... OMIM:600145
Choreoacanthocytosis
Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue and lips due to ... ORPHA:2388
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Short stature, Tapered finger, Lateral ... OMIM:618367
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Hip contracture, Micrognathia, Patent ductus arteriosus, Pierre-Robin sequ... OMIM:300868
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Angina pectoris, Ataxia, Abnormali... ORPHA:79318
Split Cord Malformation
Kyphoscoliosis, Hyperlordosis, Paraparesis, Myelomeningocele, Lipomyelomeningocele, Cervical spin... ORPHA:573278
Kabuki Syndrome 1
Hemolytic anemia, Congenital hip dislocation, Short stature, Micrognathia, Autoimmune thrombocyto... OMIM:147920
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Bifid ... OMIM:607872
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Protruding tongue, Micrognathia, Paraparesis, Oromotor apraxia, Spastic te... ORPHA:98889
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia... OMIM:620358
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Genu valgum ORPHA:488627
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Kyphoscoliosis, Micrognathia, Dysplastic corpus callosum, Colpocephaly, Holoprosencep... OMIM:618820
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Short philtrum, Retrognathi... ORPHA:293725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Spastic tetraparesis, Micrognathia, Gingival overgrowth, Opisthotonus... OMIM:614098
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Paraparesis, Parotitis ORPHA:449427
6Q Terminal Deletion Syndrome
Hallux valgus, Micrognathia, High, narrow palate, Dysmetria, Gait ataxia, Colpocephaly, Thick ver... ORPHA:75857
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Short stature, Congestive heart failure, 3-4 finger cut... OMIM:181270
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Syndactyly, Short stature, Patent ductus arteriosus, Retrognathia, Late... OMIM:619869
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Hypertension, Lateral ventricle dilatation, Fused... OMIM:300896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... ORPHA:261537
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Neonatal death, Syndactyly, Tricuspid regurgitation, Short stature, Portal h... OMIM:619534
Familial Cerebral Cavernous Malformation
Venous malformation, Scoliosis, Cerebral hemorrhage ORPHA:221061
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar ap... OMIM:606170
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210

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 Ptpn9

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 Ptpn9.

No publications found that use IMPC mice or data for Ptpn9.

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
Ptpn9tm91708(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptpn9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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