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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Neonatal alloimmune thrombocytopenia, Gastroint... OMIM:173470
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebral calcification, H... ORPHA:1931
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Abnormal platelet aggregation, Hypertension, Stroke, Thrombocytopenia, Abnor... ORPHA:401945
Subependymal Nodular Heterotopia
Myelomeningocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Focal cortical dysplasi... ORPHA:101030
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Holoprosencephaly, Mandibular progn... ORPHA:1908
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Split hand, Encephalocele, Aplasia/Hypoplasia of the r... ORPHA:2117
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Abnormal cerebral white matter morpholo... OMIM:300660
Lissencephaly 5
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum,... OMIM:615191
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia, Anemia, Splenomegaly, Abnormal h... ORPHA:231393
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Joubert Syndrome 14
Short philtrum, Open mouth, Growth delay, Encephalocele, Ataxia, Postaxial polydactyly, Hypertens... OMIM:614424
Enlarged Parietal Foramina
Broad thumb, Myelomeningocele, Abnormal cerebral vein morphology, Encephalomalacia, Cleft lip, Sh... ORPHA:60015
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Widely-spaced maxillary central incisors, Camptodactyly, Hypoplastic ... OMIM:136760
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Oral cleft, Occipital encephalocele, Hydrocephalus ORPHA:324416
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Thanatophoric Dysplasia Type 2
Platyspondyly, Holoprosencephaly, Ventriculomegaly, Kyphosis, Patent ductus arteriosus, Encephalo... ORPHA:93274
Dk Phocomelia Syndrome
Thrombocytopenia, Encephalocele, Phocomelia OMIM:223340
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Abnormal form of the vertebral bodies, Holoprosencepha... ORPHA:1590
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Anterior hypopituitarism, Micrognathia, Micro... OMIM:241800
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Encephalocele, Ataxia, Thromboc... ORPHA:381
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Encephalocele, Anencephaly, Me... OMIM:603194
Brain Small Vessel Disease 2
Hemiplegia, Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Growth delay, Polymicr... OMIM:614483
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Camptodactyly, Patent ductus arteriosus, Anencephaly, Short thumb, High palate, Micro... OMIM:619148
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hemiparesis, Cleft upper lip, Cleft palate, Abnormal mast cell morpholog... ORPHA:398189
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Frontal encephalocele, Microcephaly, Agene... ORPHA:1528
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Bowing of the long bones, Encephal... OMIM:611134
Acromelic Frontonasal Dysostosis
Choroid plexus cyst, Polydactyly, Hypoplasia of the corpus callosum, Ventriculomegaly, Preaxial p... OMIM:603671
Adams-Oliver Syndrome
Absent hand, Porencephalic cyst, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Hype... ORPHA:974
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal cerebral white matter morphology, Occipital encephalocele, Type II lissencephaly, Hydroc... ORPHA:352682
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Paraparesis, Recurrent subcortical infarcts, Tetraparesis, Hemiparesis, ... ORPHA:140989
Schisis Association
Spina bifida, Encephalocele, Anencephaly, Unilateral cleft lip, Cleft palate, Microcephaly ORPHA:63862
Acromelic Frontonasal Dysplasia
Choroid plexus cyst, Ventriculomegaly, Preaxial foot polydactyly, Encephalocele, Hypopituitarism,... ORPHA:1827
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Downturned corners of mouth, Thin upper lip vermilion, Clinodactyly of the 3rd toe,... ORPHA:521308
Lissencephaly 8
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Microcephaly, Occipital ence... OMIM:617255
Oculoauriculofrontonasal Syndrome
Scoliosis, Narrow mouth, Lipoma of corpus callosum, Encephalocele, Cleft lip, Cleft palate, Micro... ORPHA:398156
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Camptodactyly, Broad long bones, Bowing of the long bones, Encephalocele, Severe sh... OMIM:224400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Agenesis of corpus callosum, Type II lissenceph... ORPHA:370959
Atelosteogenesis, Type I
Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila... OMIM:108720
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Hypoplastic frontal s... ORPHA:90652
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... OMIM:615287
Isolated Dandy-Walker Malformation
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft palate ORPHA:217
Joubert Syndrome With Renal Defect
Scoliosis, Tremor, Hand polydactyly, Agenesis of corpus callosum, Oculomotor apraxia, Encephaloce... ORPHA:220497
Snakebite Envenomation
Pseudobulbar paralysis, Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage... ORPHA:449285
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele ORPHA:261102
Cocaine Embryofetopathy
Hypertonia, Encephalocele, Short distal phalanx of finger ORPHA:1911
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Ischemic stroke, Intracranial hemorrhage, Recurrent subcortical infarcts, Abnormal ce... ORPHA:136
Joubert Syndrome With Ocular Defect
Scoliosis, Tremor, Hand polydactyly, Agenesis of corpus callosum, Abnormal vertebral morphology, ... ORPHA:220493
Pseudoprogeria Syndrome
Progressive spastic quadriplegia, Growth delay, Cranium bifidum occultum, Short stature, Microcep... ORPHA:2985
Joubert Syndrome
Scoliosis, Tremor, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormal form of ... ORPHA:475
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Menkes Disease
Intracranial hemorrhage, Hypertonia, Intrauterine growth retardation, Short stature, Metaphyseal ... OMIM:309400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Anterior encephalocele, Short femur, Absent septum pellucidum, Holoprosencephaly, Foot... OMIM:601357
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Short philtrum, Aortic regurgitation, Neutropenia, Ataxia, Macrothrombocyto... OMIM:603585
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Encephalocele, Cleft upper lip, Cleft palate, Microcephaly OMIM:613885
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Postaxial polydactyly, Dilated third ventricle, Short digit, Occipital encephalocele, Micrognathi... ORPHA:397715
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum, Li... OMIM:218670
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Disproportionate short sta... ORPHA:2501
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Hermansky-Pudlak Syndrome 2
Long philtrum, Carious teeth, Prolonged bleeding time, Periodontitis, Impaired ADP-induced platel... OMIM:608233
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Anisospondyly, Narrow mouth, Broad long bones, Hypoplastic ilia, Hypoplastic... ORPHA:1865
Absent Eyebrows And Eyelashes With Mental Retardation
Microcephaly, Progressive spastic quadriplegia, Encephalocele OMIM:200130
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Congenital hip dislocation, Hypoplasia of the corpus callosum, Cleft palat... OMIM:164180
Joubert Syndrome 7
Scoliosis, Postaxial hand polydactyly, Oculomotor apraxia, Encephalocele, Postaxial polydactyly, ... OMIM:611560
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral calcification OMIM:116860
Von Willebrand Disease
Abnormal platelet function, Abnormal thrombocyte morphology, Deviation of finger ORPHA:903
Gabriele-De Vries Syndrome
Tremor, Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormality of the dentition... OMIM:617557
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Long philtrum, Moyamoya phenomenon, Dilated cardiomyopathy, Short phalanx of finger, Small hand, ... OMIM:300845
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Ventriculomegaly, Tremor, Normal pressure hydrocephalus OMIM:611808
Joubert Syndrome 16
Polydactyly, Oculomotor apraxia, Encephalocele, Dandy-Walker malformation OMIM:614465
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Sneddon Syndrome
Tremor, Intracranial hemorrhage, Chorea, Hemiparesis, Hypertension ORPHA:820
Joubert Syndrome 9
Scoliosis, Ventriculomegaly, Oculomotor apraxia, Encephalocele OMIM:612285
Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
Atretic occipital cephalocele, Dandy-Walker malformation OMIM:609222
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Paralysis, Stroke, Dilatati... ORPHA:36382
Frontorhiny
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Finger clinodactyl... ORPHA:391474
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int... ORPHA:31825
Parietal Foramina 1
Encephalocele, Cleft upper lip, Cleft palate OMIM:168500
Iniencephaly
Mandibular aplasia, Rocker bottom foot, Spina bifida, Hyperlordosis, Narrow mouth, Holoprosenceph... ORPHA:63259
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
Meckel Syndrome, Type 10
Occipital encephalocele, Postaxial polydactyly, Anencephaly, Cleft palate OMIM:614175
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Brain Small Vessel Disease 3
Cerebral atrophy, Cerebral hemorrhage, Spastic tetraplegia, Cerebral calcification, Leukoencephal... OMIM:618360
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Hypertonia, Thrombocytopenia, Pancytopenia, Neonatal death, ... ORPHA:85212
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, S... OMIM:617862
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Intrauterine growth retardation, Conical tooth, Broa... ORPHA:228390
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Encephalocele ORPHA:1003
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Meckel Syndrome 13
Micrognathia, Occipital encephalocele, Oculomotor apraxia, Ataxia OMIM:617562
Mirage Syndrome
Overlapping fingers, Radial club hand, Rocker bottom foot, Scoliosis, Intracranial hemorrhage, Hy... OMIM:617053
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... OMIM:614075
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Holoprosencephaly
Scoliosis, Branchial anomaly, Spinal dysraphism, Spinal cord tumor, Solitary median maxillary cen... ORPHA:2162
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Megalencephaly, Abnormal cor... ORPHA:280195
Hypophosphatasia, Infantile
Platyspondyly, Stillbirth, Intracranial hemorrhage, Metaphyseal cupping, Abnormality of the denti... OMIM:241500
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Hemiparesis, Meningocele, Syringomyelia, Dandy-Walker ... ORPHA:2481
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Tremor, Abnormal caudate nucleus morphology, Rigidity, Pallidal degeneration, Poo... ORPHA:25
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Spinal cord co... ORPHA:79443
Coach Syndrome 1
Postaxial hand polydactyly, Growth delay, Oculomotor apraxia, Encephalocele, Ataxia, Hypertension... OMIM:216360
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Prolonged bleeding time, Intracranial hemorrhage, Leukocytosis, Brui... ORPHA:3226
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Duplication Of The Pituitary Gland
Abnormality of the tongue, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, ... ORPHA:314621
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Long philtrum, Moyamoya phenomenon, Ischemic stroke, Hypertension, Delayed puberty, Cerebral hemo... ORPHA:280679
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Scoliosis, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Enc... OMIM:253800
Joubert Syndrome 2
Postaxial hand polydactyly, Enlarged fossa interpeduncularis, Encephalocele, Oculomotor apraxia, ... OMIM:608091
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Abnormality of the dentition, Ataxia, Spasticity OMIM:616494
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Encephalocele ORPHA:65
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypermobility of toe joints, Hypoplasia of the corpus callosum, Growth delay, Thin u... ORPHA:488635
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalo... OMIM:614643
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Preaxial hand polydactyly, Broad thumb, Pachygyria, Exencephaly, Finger syndactyly... ORPHA:2211
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Sneddon Syndrome
Hemiplegia, Tremor, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Parietal Foramina 3
Encephalocele OMIM:609566
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Microretrognathia, Rhizomelia, Preaxial polydactyly, Pat... OMIM:616300
Parietal Foramina 2
Encephalocele OMIM:609597
Joubert Syndrome With Oculorenal Defect
Scoliosis, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Ataxia, Fo... ORPHA:2318
Ch├ędiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Pancytopenia, Anemia, Abnormality of neutrophil physiology, ... ORPHA:167
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Cleft palate, Cleft upper lip,... OMIM:611561
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Acute leukemia, Purpur... ORPHA:906
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Congenital Factor Xiii Deficiency
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Myeloid leukemia,... ORPHA:331
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Postaxial hand polydactyly, Agenesis of corpus callosum, Holoprosenc... OMIM:264480
Cerebral Cavernous Malformations 3
Abnormal cerebral morphology, Cerebral hemorrhage, Paralysis OMIM:603285
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Abnormal cerebral white matter morphology, Ataxia, Cardiac arrest, High palate OMIM:618951
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Occipital encephalocele OMIM:614416
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoence... OMIM:615889
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arteriosus, High palate... ORPHA:861
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Myoclonus, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Acrofacial Dysostosis, Catania Type
Carious teeth, Short stature, Spina bifida occulta, Intrauterine growth retardation, Microcephaly... OMIM:101805
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Cleft palate, Postaxial foot polydactyly, Occipital ence... OMIM:607361
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Pentalogy Of Cantrell
Scoliosis, Abnormality of tibia morphology, Split hand, Polysplenia, Encephalocele, Aplasia/Hypop... ORPHA:1335
Dentinogenesis Imperfecta
Prolonged bleeding time, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abn... ORPHA:49042
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Drooling, Ventriculomegaly, Ataxia, Frontotemporal ... ORPHA:391417
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Leukocytosis, ST segment depression, Hypopituitarism, Hypertension, Abnormal cer... ORPHA:90065
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gas... ORPHA:99147
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Meckel Syndrome, Type 1
Natal tooth, Patent ductus arteriosus, Anencephaly, Lobulated tongue, Cerebral hypoplasia, Microg... OMIM:249000
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Bifid uvula, Cleft palate, Abnormal ora... ORPHA:1993
Cerebral Visual Impairment
Clumsiness, Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral white matter morphology, ... ORPHA:447788
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoim... ORPHA:324636
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Subarachnoid hemorrhage, Cerebral vasculitis, Eosinophilia OMIM:243700
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,... OMIM:607317
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Pseudo-Torch Syndrome 2
Ventriculomegaly, Patent ductus arteriosus, Thrombocytopenia, Polymicrogyria, Cerebral hemorrhage... OMIM:617397
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Narrow palate, Downturned corners of mouth, Hypoplasia of the corpus ... OMIM:605627
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Scoliosis, Macroglossia, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventricu... OMIM:613150
Osteogenesis Imperfecta
Scoliosis, Abnormality of long bone morphology, Abnormality of tibia morphology, Carious teeth, A... ORPHA:666
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Short distal phalanx of finger, Pancytopenia, B... ORPHA:1855
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Thin vermilion border, Toe syndactyly, Short philtrum, Downturned corners of m... ORPHA:238750
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Wolff-Parkinson-White syndrome, Abnormal cerebral white matter morphology... OMIM:614947
Familial Multiple Nevi Flammei
Hemiplegia, Scoliosis, Arrhythmia, Intracranial hemorrhage, Hemiparesis, Pulmonary embolism, Cere... ORPHA:624
Alg13-Cdg
Long philtrum, Adducted thumb, Clumsiness, Abnormal lateral ventricle morphology ORPHA:324422
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Cleft upper lip, Cleft palate, Occipit... OMIM:612284
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorr... ORPHA:99828
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Drooling, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, A... ORPHA:177
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Frontofacionasal Dysplasia
Hypoplasia of the corpus callosum, Encephalocele, Non-midline cleft lip, Short stature, Cleft palate ORPHA:1791
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Short 5th finger, Short philtrum, Intracranial hemorrhage, 2-3 toe syndactyly... ORPHA:163979
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... OMIM:183802
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Aspergillosis
Abnormality of long bone morphology, Increased circulating IgE level, Intracranial hemorrhage, Ne... ORPHA:1163
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal vertebral morphology, Spina bifida occulta... OMIM:601829
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Shock, Prolonged... ORPHA:49566
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Non-... ORPHA:887
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Paraparesis, Ventriculomegaly, Spasticity, Aqueductal stenosis, Atax... ORPHA:1136
Isovaleric Acidemia
Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity OMIM:243500
Non-Functioning Paraganglioma
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... ORPHA:94080
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Drooling, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Myelomeningoce... ORPHA:2369
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal conus terminalis morphology, Gastrointestinal hemorrhage, Hematemesis, Osteolysis involv... ORPHA:464321
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Excessive salivation, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreo... OMIM:261630
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Hypoplasia of the corpus callosum, Thoracic kyphosis,... OMIM:610185
Poland Syndrome
Scoliosis, Absent hand, Hand polydactyly, Finger syndactyly, Split hand, Kyphosis, Cone-shaped ep... ORPHA:2911
Cleidocranial Dysplasia
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Ab... ORPHA:1452
4H Leukodystrophy
Dysdiadochokinesis, Delayed eruption of teeth, Tremor, Drooling, Abnormality of extrapyramidal mo... ORPHA:289494
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Spastic diplegia, Postnatal growth retardation, Metatarsus adductus, Torti... ORPHA:300570
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callos... ORPHA:2166
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... OMIM:311200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Subdural hemorrhage, Poor fine motor coordination, Neutropenia, Pulmonary embolism, Periventricul... ORPHA:79282
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Hemiparesis, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, High palate, Retrog... OMIM:300983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Micrognathia, Hypoplasia of the c... OMIM:236670
Hemifacial Microsomia
Vertebral hypoplasia, Hydrocephalus, Branchial anomaly, Micrognathia, Patent ductus arteriosus, W... OMIM:164210
Kaposiform Lymphangiomatosis
Abnormal bleeding, Abnormal humerus morphology, Epidural hemorrhage, Abnormality of the ischium, ... ORPHA:464329
Propionic Acidemia
Cerebral atrophy, Cerebellar hemorrhage, Neutropenia, Thrombocytopenia, Pancytopenia, Limb hypert... OMIM:606054
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Hypoplasia of the corpus callosum, Spastic diplegia, Ataxia, Lower limb spasticity, Leukoencephal... OMIM:615281
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Thoracic kyphosis, Hypertonia, Ataxia, Clinodactyly, Syndactyly, Myoclonus, ... OMIM:619092
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... OMIM:615362
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Short foot, Cleft upper lip, Cleft palate, Ethmoidal enceph... OMIM:607597
15Q24 Microdeletion Syndrome
Scoliosis, Long philtrum, Abnormal thumb morphology, Myelomeningocele, Narrow mouth, Thick lower ... ORPHA:94065
Vitamin K Antagonist Embryofetopathy
Macroglossia, Epiphyseal stippling, Punctate vertebral calcifications, Short distal phalanx of fi... ORPHA:1914
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Ataxia, Cervical myelopathy, Opisthotonus, Syringomyelia, Myelomenin... OMIM:207950
Neural Tube Defects, Susceptibility To
Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints OMIM:182940
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Lopes-Maciel-Rodan Syndrome
Scoliosis, Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Kyphosis, Ankle clonus,... OMIM:617435
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Macroglossia, Thick lower lip vermilion, Hypoplasia of the corpus callosum, ... OMIM:300354
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Three M Syndrome 1
Hyperlordosis, Long philtrum, Increased vertebral height, Thick lower lip vermilion, Hypoplastic ... OMIM:273750
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Scoliosis, Intraventricular hemorrhage, Clonus, Neonatal death, Spastic tetraplegia, Myoclonus, I... OMIM:619055
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Scoliosis, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Hyperintensity of cerebral white... ORPHA:521406
Meckel Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:564
Pagod Syndrome
Spina bifida, Arrhythmia, Encephalocele, Meningocele, Sudden cardiac death, Short stature, Microc... ORPHA:991
Joubert Syndrome With Hepatic Defect
Scoliosis, Tremor, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Oculomo... ORPHA:1454
Triploidy
Macroglossia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Finger syndactyly, Holopro... ORPHA:3376
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Hypertonia, Growth... OMIM:617248
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Pachygyria, Abnormal caudate nucleus morphology, Hypop... ORPHA:300573
Carpenter Syndrome 1
Scoliosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina... OMIM:201000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Paroxysmal supraventricular tachycardia, Dental crowding, Pierre-Robin sequence, E... OMIM:617877
Zechi-Ceide Syndrome
Oligodontia, Short metatarsal, Cephalocele, Short distal phalanx of finger, Sandal gap, Cleft upp... OMIM:612916
48,Xxyy Syndrome
Hip dysplasia, Open bite, Tremor, Carious teeth, Abnormal dental enamel morphology, Radioulnar sy... ORPHA:10
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Atypical Rett Syndrome
Scoliosis, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Growth delay, Kyphosis, Small hand,... ORPHA:3095
Isolated Hemihyperplasia
Scoliosis, Myelomeningocele, Abnormality of the dentition ORPHA:2128
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Everte... ORPHA:3219
Orofaciodigital Syndrome Xiv
Micrognathia, Hypoplasia of the corpus callosum, Holoprosencephaly, Preaxial polydactyly, Patent ... OMIM:615948
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Scoliosis, Corpus callosum atrophy, Open mouth, Drooling, Hypoplasia of the ... ORPHA:565624
Lathosterolosis
Long philtrum, Postaxial hand polydactyly, Toe syndactyly, Downturned corners of mouth, High pala... ORPHA:46059
Pseudo-Torch Syndrome 3
Leukocytosis, Abnormal cerebral white matter morphology, Congenital thrombocytopenia, Hypertensio... OMIM:618886
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Tongue atrophy, Parkinsonism, Upper motor ne... ORPHA:216873
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Hyperplasia of the maxilla, Chorea, Abnormal cerebral white ... OMIM:618587
Noonan Syndrome
Scoliosis, Abnormal bleeding, Arrhythmia, Radioulnar synostosis, Thick lower lip vermilion, Micro... ORPHA:648
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Hydrocephalus, Micrognathia, 3-4 fing... ORPHA:2437
Tempi Syndrome
Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased circulating IgG level, Tel... ORPHA:284227
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricu... ORPHA:369929
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Cleft ... ORPHA:66637
Hypermanganesemia With Dystonia 2
Scoliosis, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Parkinsonism, Babinski sign, Sec... OMIM:617013
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Scoliosis, Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babins... OMIM:270500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Micrognathia, Hypoplasia of the corpus callosum, Hypertonia, 2-3 toe syndactyly, Joint contractur... OMIM:618914
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Abnormal bleeding, Abnormality of neutrophil physiology, Severe pe... ORPHA:2968
Menkes Disease
Tarsal synostosis, Gastrointestinal hemorrhage, Intracranial hemorrhage, Chorea, Hypertonia, Bowi... ORPHA:565
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Large iliac wing, High iliac wing, Severe sh... ORPHA:2780
Acrofacial Dysostosis, Catania Type
Carious teeth, Finger syndactyly, Microretrognathia, Abnormal palate morphology, Smooth philtrum,... ORPHA:1786
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Abnormal globus pallidus morphology, Cardiom... OMIM:251000
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Scoliosis, Carious teeth, Sandal gap, Yellow-brown discoloration of the teeth,... OMIM:619229
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Dysmetria, Babinski sign, Agenesis of corpus callosum OMIM:610245
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:1787
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Clonus, Spastic ataxia, Chorea, Abnormal cerebral white matter morphology, C... ORPHA:397946
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Hypertonia, Hypertension, Cerebral cortical atrophy, Cerebral artery ather... ORPHA:1192
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Spasticity OMIM:615924
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Basal ganglia cysts, Arrhythmia, Narrow palate, Tapered toe, ... OMIM:608836
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Tremor, Carious teeth, Abnormal dental enamel morphology, R... ORPHA:96264
Frontonasal Dysplasia 2
Hypoplasia of the corpus callosum, Microcephaly, Encephalocele OMIM:613451
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorable respons... ORPHA:314632
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Tremor, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical hemiatrophy, Dilati... ORPHA:306669
Muscle-Eye-Brain Disease
Holoprosencephaly, Hypertonia, Meningocele, Hemiplegia/hemiparesis, Hydrocephalus ORPHA:588
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Long philtrum, Finger syndactyly, Abnormal form of the verteb... ORPHA:2311
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Drooling, Excessive salivation, High palate, Abnormality of the dentition, Ataxia, Spasti... OMIM:300055
Jaberi-Elahi Syndrome
Scoliosis, Tremor, Gait ataxia, Kyphosis, Abnormality of the dentition, Triangular mouth, Dysmetr... OMIM:617988
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long philtrum, Tremor, Hypoplasia of the corpus callosum, High palate, Spastic diplegia, Postnata... ORPHA:480907
Distal Monosomy 10Q
Short metatarsal, Poor fine motor coordination, Patent ductus arteriosus, Postnatal growth retard... ORPHA:96148
Acrocraniofacial Dysostosis
Genu valgum, Short philtrum, Broad thumb, Advanced eruption of teeth, Flared iliac wing, Microgna... ORPHA:949
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short metatarsal, Short philtrum, Downturned corners of mouth... ORPHA:217017
Medulloblastoma
Cerebellar hemorrhage, Ataxia, Spinal cord tumor, Progressive cerebellar ataxia, Cerebellar ataxi... ORPHA:616
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Congestive heart failure, Dilated ... ORPHA:99901
Central Neurocytoma
Hydrocephalus, Ataxia, Cerebral calcification, Babinski sign, Abnormal lateral ventricle morphology ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Epiphyseal stippling, Pachygyria, Colpocephaly OMIM:614870
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, Carious teeth, Narrow palate, Narrow mouth, Overlapping toe, Leukoencephalopathy, Short s... ORPHA:457365
Adams-Oliver Syndrome 1
Toe syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalocele, H... OMIM:100300
16Q24.3 Microdeletion Syndrome
Hip dysplasia, Long philtrum, Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Mit... ORPHA:261250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Scoliosis, Abnormality of extrapyramidal motor function, Postnatal growth retardation, Retinal te... OMIM:612199
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Neuronal loss in the cerebral... ORPHA:275872
Fraser Syndrome 1
Difficulty in tongue movements, Dental crowding, Encephalocele, Cutaneous finger syndactyly, Apla... OMIM:219000
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Myelomeningocele, Micrognathia, Kyphosis, Meningocele, Hydranen... ORPHA:1393
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, E... ORPHA:208447
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus... OMIM:618736
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Scoliosis, Tremor, Hypoplasia of the maxilla, Ventriculomegaly, 2-3 toe syndactyly, Limb tremor, ... OMIM:218000
Pyruvate Dehydrogenase Deficiency
Long philtrum, Tremor, Aplasia/Hypoplasia of the corpus callosum, Osteolytic defects of the middl... ORPHA:765
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Agenesis of corpus callosum, Absent septum pellucidum, Short 1st metaca... OMIM:609053
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Humero-Radial Synostosis
Meningocele, Microcephaly, Aplasia/Hypoplasia of the thumb, Tarsal synostosis ORPHA:3265
Classic Homocystinuria
Scoliosis, Genu valgum, Gastrointestinal hemorrhage, Dental crowding, Intracranial hemorrhage, Ky... ORPHA:394
Chromosome 18Q Deletion Syndrome
Secretory IgA deficiency, Scoliosis, Downturned corners of mouth, Mandibular prognathia, Patent d... OMIM:601808
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Carious teeth, Wide anterior fontanel, Dental crowding, Broad long bones,... OMIM:269300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Scoliosis, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Fascicu... OMIM:159950
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Mic... ORPHA:726
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Short stature, Spina bifida occulta, Block vertebrae, Myelomenin... OMIM:613686
Wars2-Related Combined Oxidative Phosphorylation Defect
Tremor, Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Car... ORPHA:572798
Aicardi-Goutieres Syndrome 6
Tremor, Hemolytic anemia, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Pseudobulbar paralysis, Colpocephaly, Ventriculomegaly, Hypertonia, ... OMIM:618651
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Hypertonia, Meningocele, Glossoptosis, Short stature, Clinodactyly of the 5th f... ORPHA:2031
Mental Retardation, Autosomal Dominant 56
Long philtrum, Open mouth, Paraparesis, High palate, Ataxia, Thin upper lip vermilion, Secondary ... OMIM:617854
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Scoliosis, Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, High, nar... ORPHA:91387
Lateral Meningocele Syndrome
Scoliosis, Long philtrum, Dental crowding, Biconcave vertebral bodies, Kyphosis, Patent ductus ar... OMIM:130720
Xeroderma Pigmentosum, Complementation Group G
Tremor, Growth delay, Ataxia, Microcephaly, Spasticity OMIM:278780
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Brad... OMIM:300894
Richieri-Costa/Guion-Almeida Syndrome
Gait ataxia, Mandibular prognathia, Abnormal digit morphology, Cleft palate, Short stature, Spina... OMIM:268850
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Gastrointestinal hemorrhage, Angina pectoris, Kyphosis, Calcification of falx cerebri,... OMIM:177850
Familial Afibrinogenemia
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding ORPHA:98880
Autosomal Dominant Non-Syndromic Intellectual Disability
Scoliosis, Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cere... ORPHA:178469
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Severe short stature, Spina bifida occulta, Cleft palate, Intrauterine ... ORPHA:1797
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Leukoencephalopathy, Dysmetria, Hammertoe OMIM:618387
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Excessive salivation, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Mi... OMIM:261640
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Microcytic anemia, Subarachnoid hemorrh... ORPHA:774
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Scoliosis, Short philtrum, Cervical platyspondyly, Downturned corners of mouth, Tooth agenesis, P... OMIM:618731
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Cerebral white matter hypopl... ORPHA:284417
Slc35A2-Cdg
Scoliosis, Abnormality of long bone morphology, Hip subluxation, Cerebral white matter atrophy, E... ORPHA:356961
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Thin vermilion border, Abnormal tongue physiology, Narrow mouth, High palate, Poor coordi... ORPHA:544254
Ataxia-Telangiectasia
Tremor, Decreased circulating antibody level, Lymphopenia, Ataxia, Telangiectasia of the skin, De... ORPHA:100
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Finger syndactyly, Synosto... ORPHA:957
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short stature, Spina bifida occulta, Finger syndactyly ORPHA:1514
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Dental crowding, High palate, Encephalocele, Umbilical hernia,... ORPHA:2052
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Stroke, Lower limb spasticity, Congestive heart failure, Parkinsonism, Sh... ORPHA:3077
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Neuronal Intranuclear Inclusion Disease
Tremor, Ventriculomegaly, Ataxia, Leukoencephalopathy, Rigidity, Syncope OMIM:603472
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Myelomeningocele, Abnormal form of t... ORPHA:2876
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Short stature, Spasticity OMIM:213200
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Mandibular prognathia, Pulmonary arterial hypertension, Exaggerated cupid's bow, Dilat... ORPHA:464738
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Hypoplasia of the corpus callosum, Eyelid myoclonus, Abnormal pyramidal s... OMIM:618060
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Dental crowding, Craniofacial hyperostosis, Abnormal form of the verteb... ORPHA:2789
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Upper limb undergrowth, Camptodactyly, Patent ductus arteriosus, Smooth philtrum, Ataxia,... OMIM:608799
Hydranencephaly
Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage, Abnormal corpus striatum morpholo... ORPHA:2177
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Abnormality of extrapyramidal motor function, Mandibular prognathia, Pat... ORPHA:354
Hemihyperplasia, Isolated
Scoliosis, Myelomeningocele OMIM:235000
Roberts-Sc Phocomelia Syndrome
Patent ductus arteriosus, Postnatal growth retardation, Abnormality of the metacarpal bones, Fron... OMIM:268300
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonism, Rigidit... OMIM:612953
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Congenital hip dislocation, Micrognathia, Hypertonia, Dilation of lateral ven... ORPHA:3078
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micrognathia, Fifth... ORPHA:2839
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Hutchinson-Gilford Progeria Syndrome
Thin vermilion border, Narrow mouth, Dental crowding, Intracranial hemorrhage, Short clavicles, P... ORPHA:740
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Ataxia, Tooth agenesis, Meningocele, Non-midline cleft lip, Hip d... ORPHA:2003
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... ORPHA:276621
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in substantia nigr... ORPHA:329284
Osteogenesis Imperfecta, Type Xvii
Scoliosis, Platyspondyly, Intraventricular hemorrhage, Thin metacarpal cortices, Short stature, V... OMIM:616507
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Cerebral cort... ORPHA:79263
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity OMIM:600116
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Tremor, Clumsiness, Gait ataxia, Diffuse spongiform l... ORPHA:282166
Neuronal Intranuclear Inclusion Disease
Scoliosis, Abnormal form of the vertebral bodies, Hypertonia, Ataxia, Spina bifida occulta ORPHA:2289
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Stroke, Increased red blood cell mass, C... OMIM:263400
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Slender long bone, Hip dislocation, Spina bifida occulta, Hypoplastic pelvis ORPHA:2840
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Gastrointestinal hemorrhage, Stroke, Spina bifida occulta, Bruising susceptibility ORPHA:230839
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses, Lipoma o... ORPHA:306542
Superficial Siderosis
Dysdiadochokinesis, Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Enl... ORPHA:247245
Weaver Syndrome
Scoliosis, Broad thumb, Camptodactyly, Hypertonia, Mandibular prognathia, Metatarsus adductus, Pr... OMIM:277590
Kyphoscoliotic Ehlers-Danlos Syndrome
Scoliosis, Antenatal intracerebral hemorrhage, Congenital hip dislocation, Micrognathia, Subdural... ORPHA:536545
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Choreoathetosis, Cardiom... ORPHA:27
Caudal Duplication
Spina bifida, Spinal cord lesion, Vertebral segmentation defect, Myelomeningocele, Bifid sacrum ORPHA:1756
Riddle Syndrome
Conjunctival telangiectasia, Chronic sinusitis, Clumsiness, Intraventricular hemorrhage, Abnormal... ORPHA:420741
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphope... OMIM:613179
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, Tetraparesis, Vertebral hyperostosis, Spast... OMIM:164200
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Tremor, Paraparesis, Kyphosis, Ataxia ORPHA:99014
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Resting tremor, Bradykinesia OMIM:616710
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Ataxi... OMIM:615157
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension ORPHA:251274
Joubert Syndrome 8
Hypertonia, Occipital encephalocele, Oculomotor apraxia, Ataxia OMIM:612291
Triopia
Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
Tonne-Kalscheuer Syndrome
Tremor, Broad thumb, Narrow mouth, Downturned corners of mouth, Growth delay, Malar flattening, S... OMIM:300978
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hip dysplasia, Tremor, Upper limb spasticity, High palate, Hyperkinetic movements, Myocardial inf... ORPHA:457240
Dubowitz Syndrome
Scoliosis, Broad thumb, Postnatal growth retardation, Sandal gap, Metatarsus adductus, Spina bifi... ORPHA:235
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dilated fourth ventricl... OMIM:614831
Vater/Vacterl Association
Scoliosis, Hypoplasia of the radius, Spina bifida, Radioulnar synostosis, Abnormal vertebral morp... OMIM:192350
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Lumbar hyperlordosis, Short c... OMIM:169550
Craniosynostosis 6
Scoliosis, Abnormal corpus callosum morphology, Spina bifida occulta, Microcephaly, Agenesis of c... OMIM:616602
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Mandibular prognathia, Tented upper lip vermilion, Meningocele, Cleft up... ORPHA:894
Bannayan-Riley-Ruvalcaba Syndrome
Scoliosis, Long philtrum, Broad thumb, Narrow palate, Intracranial hemorrhage, Angina pectoris, S... ORPHA:109
Pontocerebellar Hypoplasia, Type 13
Short philtrum, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, High pal... OMIM:618606
Arthrogryposis, Distal, Type 2A
Pursed lips, Rocker bottom foot, Long philtrum, Scoliosis, Narrow mouth, Dental crowding, Camptod... OMIM:193700
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Acute Liver Failure
Abnormal bleeding, Incoordination, Hepatocellular necrosis, Gastrointestinal hemorrhage, Intracra... ORPHA:90062
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Diastomatomyelia ORPHA:1759
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Supraventricular arrhythmia, Intracranial hemorrhage, Leukocytosis, Vasculitis in... ORPHA:3260
Cockayne Syndrome Type 3
Enamel hypoplasia, Scoliosis, Carious teeth, Cerebral white matter atrophy, Subdural hemorrhage, ... ORPHA:90324
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Tremor, Gait ataxia, Narrow palate, Hypertonia, Ataxia, Tented upper lip vermilion, Ba... OMIM:616505
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Paraparesis, Abnormal cerebral white matter morphology, Dysm... OMIM:302800
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Micrognathia, E... OMIM:274000
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Intraventricular hemorrhage, Megaloblastic anemia, Growth delay, Stomatitis, Neutropen... ORPHA:79284
Cocaine Intoxication
Ventricular arrhythmia, Tremor, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolon... ORPHA:90068
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Intraventricular hemorrhage, Open mouth, Speech apraxia, Postnatal growth retardation,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Intraventricular hemorrhage, Open mouth, Speech apraxia, Postnatal growth retardation,... ORPHA:363958
Trisomy 8Q
Camptodactyly of finger, Micrognathia, Everted lower lip vermilion, Non-midline cleft lip, Oral c... ORPHA:1752
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Abnormality of the sphenoid sinus, Hydrocephalus, Anterior hypopituitarism, I... ORPHA:91350
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Calcif... OMIM:213600
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:600376
Glutamine Deficiency, Congenital
Thin vermilion border, Hypoplasia of the corpus callosum, Camptodactyly, Subependymal cysts, Neon... OMIM:610015
Cach Syndrome
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Spastic dip... ORPHA:135
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Tremor, Carious teeth, Abnormal dental enamel morphology, R... ORPHA:96263
White Forelock With Malformations
Finger syndactyly, Abnormal palate morphology, Deep philtrum, Spina bifida occulta, Clinodactyly ... ORPHA:2475
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... ORPHA:363400
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Hypoplasia of the corpus callosum, Lower limb spasticity, Spastic... ORPHA:401815
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Impaired T cell function, Short stature, Splenomegaly, Hypogeusia OMIM:201100
Leukodystrophy, Hypomyelinating, 6
Tremor, Rigidity, Ataxia, Short stature, Microcephaly, Choreoathetosis, Spasticity OMIM:612438
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... ORPHA:101071
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Hip dysplasia, Paraparesis, Scoliosis OMIM:302802
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Wolfram Syndrome 1
Tremor, Megaloblastic anemia, Growth delay, Cerebral atrophy, Ataxia, Thrombocytopenia, Siderobla... OMIM:222300
Vascular Hyalinosis
Subarachnoid hemorrhage, Cerebral calcification, Hematochezia OMIM:277175
Cardiofaciocutaneous Syndrome 4
Scoliosis, Hypoplasia of the corpus callosum, Pulmonic stenosis, Short stature, Abnormal lateral ... OMIM:615280
Mental Retardation, Autosomal Dominant 48
Open mouth, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Stereoty... OMIM:617751
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Decreased mean corpuscu... ORPHA:244242
22Q11.2 Deletion Syndrome
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arterios... ORPHA:567
Lathosterolosis
Long philtrum, Thin vermilion border, Postaxial hand polydactyly, Toe syndactyly, Micrognathia, G... OMIM:607330
Wildervanck Syndrome
Meningocele, Fused cervical vertebrae ORPHA:3456
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Radio-Tartaglia Syndrome
Scoliosis, Long philtrum, Tremor, Short philtrum, Drooling, Dental crowding, High palate, Wide mo... OMIM:619312
Incontinentia Pigmenti
Scoliosis, Absent hand, Abnormal dental enamel morphology, Oral cleft, Cerebral cortical atrophy,... ORPHA:464
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Dental crowding, Camptodactyly, Natal tooth, Patent ductus arteriosus, Spina bifida oc... OMIM:300373
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, T lymphocytopenia, Decreased proportion of memory B cells, Paraparesis, Pan... ORPHA:79124
Malan Overgrowth Syndrome
Scoliosis, Episodic ataxia, Narrow mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Sl... ORPHA:420179
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypoplasia of the corpus callosum, Hypertonia... ORPHA:137898
Constricting Bands, Congenital
Scoliosis, Hand polydactyly, Encephalocele, Syndactyly, Cleft upper lip, Cleft palate OMIM:217100
Joubert Syndrome 1
Macroglossia, Postaxial hand polydactyly, Triangular-shaped open mouth, Enlarged fossa interpedun... OMIM:213300
Meningioma
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Abno... ORPHA:2495
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Myoclonic-Atonic Epilepsy
Scoliosis, Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Ataxia-Telangiectasia
Defective B cell differentiation, Conjunctival telangiectasia, Tremor, T lymphocytopenia, Decreas... OMIM:208900
Polyrrhinia
Oral cleft, Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Posterior Meningocele
Upper limb spasticity, Hypertonia, Neural tube defect, Meningocele, Occipital meningocele, Thorac... ORPHA:268810
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... ORPHA:29072
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Delayed eruption of teeth, Oligodontia, Pachygyria, Narrow palate, Narrow mouth, Conic... OMIM:235510
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Spina bifida occulta, Hemivertebrae OMIM:184400
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Cerebral atrophy, Ataxia, Hypodontia, Abnormal corpus callos... ORPHA:442835
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Prader-Willi Syndrome Due To Translocation
Scoliosis, Carious teeth, Downturned corners of mouth, Patent ductus arteriosus, Anterior pituita... ORPHA:177907
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus ORPHA:1571
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Scoliosis, Tremor, Arrhythmia, Hypertonia, Abnormal pyramidal sign, Ataxia, H... ORPHA:96
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Growth delay, Oculomotor apraxia, Ataxia, Microcephaly, Choreoathetosis, Spasticity OMIM:612716
Proximal 16P11.2 Microduplication Syndrome
Scoliosis, Tremor, Smooth philtrum, Hemivertebrae, Thin upper lip vermilion, Short stature, Micro... ORPHA:370079
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Tongue thrusting, Microcephaly, Diffuse cerebral atrophy, Dilation of la... ORPHA:77299
Khan-Khan-Katsanis Syndrome
Scoliosis, Hypertonia, Patent ductus arteriosus, Postaxial polydactyly, Tricuspid regurgitation, ... OMIM:618460
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short philtrum, Thin vermilion border, Downturned corners of mouth, Kyphosis, Spina ... ORPHA:2983
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Long philtrum, Aplasia of the 1st metacarpal, Tremor, Gait ataxia, Dental crowding, Mi... ORPHA:476126
Alagille Syndrome
Short philtrum, Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia of the ulna, Hype... ORPHA:52
Mosaic Trisomy 1
Oral cleft, Long toe, Complete duplication of thumb phalanx, Thoracic scoliosis, 2-3 finger synda... ORPHA:1692
Autosomal Recessive Spastic Paraplegia Type 11
Scoliosis, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Abnormality of e... ORPHA:2822
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Scoliosis, Increased circulating gonadotropin level, Growth dela... OMIM:301030
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypoplasia of the corpus callosum, Hyperton... OMIM:618877
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Thick vermilion border, Slender long bone, Short stature, Spina bifi... ORPHA:1185
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Odontogenic neop... ORPHA:2750
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Scoliosis, Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th ... ORPHA:457279
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Micrognathia, Dilation of lateral ventricles, Subependymal cysts, Multifoca... OMIM:600721
O'Sullivan-Mcleod Syndrome