Not currently registered for phenotyping at IMPC

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

Gene Summary

protein tyrosine phosphatase, non-receptor type 9

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Dk Phocomelia Syndrome
Phocomelia, Thrombocytopenia, Encephalocele OMIM:223340
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... OMIM:155100
Joubert Syndrome 18
Retrognathia, Lobulated tongue, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Kyph... OMIM:614815
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot, Encephalocele, Dandy-Walker malformation ORPHA:217
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Clinodactyly... OMIM:136760
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Str... ORPHA:401945
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
Cocaine Embryofetopathy
Short distal phalanx of finger, Encephalocele, Hypertonia ORPHA:1911
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo... ORPHA:1908
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:609821
Subependymal Nodular Heterotopia
Meningocele, Limb myoclonus, Myelomeningocele, Abnormal ethmoid bone morphology, Partial agenesis... ORPHA:101030
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Hartsfield Syndrome
Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, ... ORPHA:2117
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... ORPHA:231393
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Oligodactyly, Thin upper lip vermilion, Downturned corners of mou... ORPHA:521308
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft ORPHA:324416
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Joubert Syndrome 14
Meningocele, Encephalocele, Hydrocephalus, Short philtrum, Dandy-Walker malformation, Ataxia, Int... OMIM:614424
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Impaired ... OMIM:614072
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Encephalocele ORPHA:1003
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus, Encephalocele, Ventriculomegaly, Kyphosis, Short stature, Hydrocephalus... ORPHA:93274
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... OMIM:124900
Joubert Syndrome 16
Oculomotor apraxia, Polydactyly, Encephalocele, Dandy-Walker malformation OMIM:614465
Pallister-Hall-Like Syndrome
Short stature, Toe syndactyly, Micrognathia, Hydrocephalus, Hip dislocation, Postaxial foot polyd... OMIM:241800
Griscelli Syndrome
Leukopenia, Spasticity, Encephalocele, Short stature, Decreased circulating antibody level, Hydro... ORPHA:381
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Meckel Syndrome 13
Oculomotor apraxia, Occipital encephalocele, Micrognathia, Ataxia OMIM:617562
Enlarged Parietal Foramina
Myelomeningocele, Abnormal cerebral vein morphology, Broad thumb, Venous malformation, Cleft lip,... ORPHA:60015
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Leukopenia, Encephalocele, Finger syndactyly, Pulmonary artery a... ORPHA:974
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Progressive spastic quadriplegia OMIM:200130
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... OMIM:231200
Immunodeficiency 81
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-... OMIM:619374
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Dandy-Walker malformation, Congenital hip dislocation, Cleft palate, Agene... OMIM:164180
Distal Monosomy 13Q
Aplasia/Hypoplasia of the thumb, Encephalocele, Short stature, Anencephaly, Abnormal metacarpal m... ORPHA:1590
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Encephalocele, Short long bone, Micrognathia, Hydrocephalu... OMIM:224400
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage OMIM:618462
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Oculoauriculofrontonasal Syndrome
Encephalocele, Micrognathia, Narrow mouth, Scoliosis, Cleft lip, Cleft palate, Broad philtrum ORPHA:398156
Parietal Foramina 1
Cleft palate, Cleft upper lip, Encephalocele OMIM:168500
Meckel Syndrome, Type 10
Dilated fourth ventricle, Anencephaly, Bifid uvula, Camptodactyly, Dandy-Walker malformation, Pos... OMIM:614175
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... OMIM:187800
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Postaxial hand polydactyly, Cleft palate, B... OMIM:603194
Parietal Foramina 3
Encephalocele OMIM:609566
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Over... OMIM:619148
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Spastic paraplegia OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Joubert Syndrome 9
Scoliosis, Oculomotor apraxia, Encephalocele, Ventriculomegaly OMIM:612285
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Hemiparesis, Hydrocephalus, Intracranial hemorrhage, Cleft palate, Abnormal mast... ORPHA:398189
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate,... OMIM:611134
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum OMIM:218670
Parietal Foramina 2
Encephalocele OMIM:609597
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... OMIM:614009
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Encephalocele, Cleft palate, Occipital encephalocele OMIM:613885
Joubert Syndrome 7
Genu valgum, Encephalocele, Oculomotor apraxia, Ataxia, Scoliosis, Postaxial hand polydactyly, Po... OMIM:611560
Coach Syndrome 1
Spasticity, Vascular dilatation, Encephalocele, Wide mouth, Oculomotor apraxia, Hypertension, Ata... OMIM:216360
Pseudoprogeria Syndrome
Cranium bifidum occultum, Growth delay, Short stature, Progressive spastic quadriplegia ORPHA:2985
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly, Appendicular spasticity OMIM:617255
Joubert Syndrome With Renal Defect
Encephalocele, Oculomotor apraxia, Hydrocephalus, Hand polydactyly, Ataxia, Tremor, Scoliosis, Cl... ORPHA:220497
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Cardiomyopathy, Abnormal pyramidal sign, Ventriculomegaly, Hydrocephalu... ORPHA:370959
Joubert Syndrome With Ocular Defect
Encephalocele, Foot polydactyly, Oculomotor apraxia, Hydrocephalus, Hand polydactyly, Abnormal ve... ORPHA:220493
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Encephalocele ORPHA:65
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short long bone, Micrognathia, Anisospondyly, Severe short stature, Disproportionate short-limb s... OMIM:224410
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bifid tongue, Hypoplastic facial bones, Cleft palate, Narrow greater sciatic notch, ... OMIM:616300
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Parkinsonism, Hemiparesis, Poor ... ORPHA:97339
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Encephalocele, Agenesis of corpus callosum, Intrauterine growth retardation, Broad... ORPHA:228390
Brain Small Vessel Disease 2
Ventriculomegaly, Spastic tetraplegia, Intracranial hemorrhage, Hemiplegia, Growth delay OMIM:614483
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly OMIM:614416
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Lateral ventricle dilatation, Kyphosis, Micrognathia, Hip dislocation, Spina bi... OMIM:618291
Meckel Syndrome, Type 9
Occipital encephalocele OMIM:614209
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Cleft palate, Thoracic pl... OMIM:108720
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft lip, Short femur, Hol... OMIM:601357
Sneddon Syndrome
Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Hypertension, Lymphopenia,... OMIM:182410
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... OMIM:193400
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... OMIM:601399
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Micrognathia, Hydroceph... ORPHA:1865
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Cleft palate, Unilateral cleft lip ORPHA:63862
Von Willebrand Disease
Abnormality of thrombocytes, Deviation of finger, Abnormal platelet function, Venous insufficiency ORPHA:903
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Joubert Syndrome
Encephalocele, Foot polydactyly, Oculomotor apraxia, Hydrocephalus, Hand polydactyly, Ataxia, Tre... ORPHA:475
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Short hall... ORPHA:90652
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Acromelic Frontonasal Dysplasia
Meningocele, Aplasia/Hypoplasia of the tibia, Encephalocele, Patellar hypoplasia, Ventriculomegal... ORPHA:1827
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Disproportio... ORPHA:2501
Primary Angiitis Of The Central Nervous System
Parkinsonism, Hemiparesis, Transient ischemic attack, Paraparesis, Paralysis, Cerebral vasculitis... ORPHA:140989
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Paralysis, Hypert... ORPHA:36382
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggregation, Meno... OMIM:617443
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Snakebite Envenomation
Hypotension, Respiratory paralysis, Cerebral ischemia, Pseudobulbar paralysis, Cardiogenic shock,... ORPHA:449285
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... OMIM:614076
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Clinodactyly, ... OMIM:603585
Camptodactyly of finger, Encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Bi... ORPHA:391474
Sneddon Syndrome
Chorea, Hemiparesis, Intracranial hemorrhage, Hypertension, Arterial stenosis, Tremor ORPHA:820
Patent ductus arteriosus, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... ORPHA:79329
Meckel Syndrome, Type 5
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palat... OMIM:611561
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate,... OMIM:607361
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... OMIM:605735
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Oculomotor ... ORPHA:397715
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... ORPHA:325
Pentalogy Of Cantrell
Non-midline cleft lip, Encephalocele, Anencephaly, Hydrocephalus, Polysplenia, Abnormality of tib... ORPHA:1335
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Abnormal vertebral morphology, Coarctation of aorta ORPHA:280195
Pai Syndrome
Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Fetal Gaucher Disease
High palate, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hypertonia, Stillbirth, Abn... ORPHA:85212
Mirage Syndrome
Patent ductus arteriosus, Leukopenia, Anemia, Radial club hand, Petechiae, Short stature, Hydroce... OMIM:617053
Duplication Of The Pituitary Gland
Retrognathia, Encephalocele, Wide mouth, Short stature, Supernumerary tooth, Lower limb spasticit... ORPHA:314621
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Lissencephaly 4
Short stature, Babinski sign, Growth delay, Hypertonia, Agenesis of corpus callosum, Colpocephaly OMIM:614019
Arachnoid Cyst
Encephalocele, Hemiparesis, Paraparesis, Hydrocephalus, Holoprosencephaly, Slurred speech, Tetrap... ORPHA:2356
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Ischemic stroke, Cerebral hemorrhage, Parkinsonism, Transient ischemic attack, Cerebr... ORPHA:136
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Cleft upper lip, Encephalocele, Patellar hypoplasia, Ventriculomegaly, ... OMIM:603671
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Short phalanx of finger, Retrognathia, Moyamoya phenomenon, Long philtrum, Small hand, Abnormal c... OMIM:300845
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Broad proximal phalanges of the hand, Cleft palate, Sho... OMIM:607597
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Hematemesis, Prolonged bleeding time, Thrombocyto... ORPHA:906
Neurocutaneous Melanocytosis
Meningocele, Ventriculomegaly, Hemiparesis, Intracranial hemorrhage, Dandy-Walker malformation ORPHA:2481
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Cleft upper lip, Encephalocele, Hydrocephalus, Median cleft lip and palate, P... OMIM:264480
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... ORPHA:274
Spinal dysraphism, Median cleft lip, Holoprosencephaly, Tooth agenesis, Abnormal form of the vert... ORPHA:2162
Joubert Syndrome With Oculorenal Defect
Encephalocele, Foot polydactyly, Hydrocephalus, Hand polydactyly, Ataxia, Scoliosis ORPHA:2318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencep... OMIM:253800
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene... OMIM:618363
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Abnormal neutrophil count, Bone marrow hypocell... ORPHA:3226
Hypophosphatasia, Infantile
Vertebral clefting, Anemia, Metaphyseal cupping, Short lower limbs, Intracranial hemorrhage, Unos... OMIM:241500
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Cerebral vasculitis, Recurren... OMIM:243700
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Narrow palate, High palate, Long philtrum, Hydrocephalus, Dandy-... OMIM:605627
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Cerebral palsy, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neona... ORPHA:853
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... OMIM:614074
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:614075
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Cerebral hemorrhage, Ataxia, Tremor, Stroke, Dystonia ORPHA:542310
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... ORPHA:63259
Meckel Syndrome, Type 1
Camptodactyly of finger, Asplenia, Ventriculomegaly, Micrognathia, Radial deviation of finger, Sm... OMIM:249000
Treacher-Collins Syndrome
Blepharospasm, Hypoplasia of the thymus, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis... ORPHA:861
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... OMIM:619172
Meckel Syndrome 14
Retrognathia, Micrognathia, Microretrognathia, Postaxial foot polydactyly, Syndactyly, Holoprosen... OMIM:619879
Joubert Syndrome With Hepatic Defect
Oculomotor apraxia, Hydrocephalus, Ataxia, Tremor, Scoliosis, Portal hypertension, Postaxial hand... ORPHA:1454
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Hemiparesis, Atherosclerosis, Transient ischemic attack, Hypertension, Intr... ORPHA:231160
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Retrognathia, Moyamoya phenomenon, Ischemic stroke, Long philtrum, Cerebral hemorrhage, Short sta... ORPHA:280679
Frontofacionasal Dysplasia
Non-midline cleft lip, Short stature, Encephalocele, Cleft palate ORPHA:1791
Moderate Hemophilia A
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial he... ORPHA:169805
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Intrac... ORPHA:99147
Congenital Factor Xiii Deficiency
Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persisten... ORPHA:331
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyd... ORPHA:90065
Glutaryl-Coa Dehydrogenase Deficiency
Chorea, Retinal hemorrhage, Ventriculomegaly, Rigidity, Limb dystonia, Communicating hydrocephalu... ORPHA:25
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Abeta Amyloidosis, Iowa Type
Myoclonus, Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Joubert Syndrome 2
Encephalocele, High palate, Oculomotor apraxia, Hydrocephalus, Ataxia, Postaxial foot polydactyly... OMIM:608091
Menkes Disease
Short stature, Intracranial hemorrhage, Babinski sign, Metaphyseal widening, Hypertonia, Intraute... OMIM:309400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Encephalocele, Ventriculomegaly, Hydrocephalus, Adducted thumb, Partial agenesis of... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Encephalocele, Ventriculomegaly, Hydrocephalus, Macroglossia, Scoliosis, Cleft p... OMIM:613150
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
Severe Hemophilia A
Anemia, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising ... ORPHA:169802
Chédiak-Higashi Syndrome
Spastic paraplegia, Hepatosplenomegaly, Thrombocytopenia, Abnormal leukocyte morphology, Vacuolat... ORPHA:167
Pseudohypoparathyroidism Type 1A
Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short 5th metacarpal,... ORPHA:79443
Osteogenesis Imperfecta
Noncommunicating hydrocephalus, Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Disloc... ORPHA:666
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Hype... ORPHA:488635
Sitosterolemia 1
Stomatocytosis, Carotid artery stenosis, Anemia, Abnormal bleeding, Reticulocytosis, Impaired pla... OMIM:210250
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Prolonged prothrombin time, Menorrhagia, P... OMIM:227600
Vacterl/Vater Association
Non-midline cleft lip, Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defec... ORPHA:887
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral palsy, Abnormal cerebral vascular morphology, Hemiparesis, Cerebral... ORPHA:53719
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage OMIM:603285
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Cerebral hemorrhage, Short finger, Clinodactyly, Syndactyly, Stroke OMIM:300049
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Reversible Cerebral Vasoconstriction Syndrome
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... ORPHA:284388
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time,... ORPHA:49566
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... OMIM:614077
Familial Multiple Nevi Flammei
Pulmonary embolism, Hemiparesis, Arteriovenous malformation, Intracranial hemorrhage, Hemiplegia,... ORPHA:624
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage OMIM:603284
Adducted thumb, Clumsiness, Abnormal lateral ventricle morphology, Long philtrum ORPHA:324422
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Joubert Syndrome 8
Oculomotor apraxia, Occipital encephalocele, Ataxia, Hypertonia OMIM:612291
Meckel Syndrome, Type 6
Cleft upper lip, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydacty... OMIM:612284
Abnormal long bone morphology, Intracranial hemorrhage, Sinusitis, Eosinophilia, Stroke, Neutrope... ORPHA:1163
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, 2-3 toe syndactyly, Anemia, Short 5th finger, Bulbous tips of toes, Hyp... ORPHA:163979
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Abnormal erythrocy... ORPHA:324636
Frontonasal Dysplasia 2
Conical tooth, Encephalocele, Widely spaced teeth, Intrauterine growth retardation, Broad philtrum OMIM:613451
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Autoinflammatory Disease, Systemic, X-Linked
Conical tooth, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... OMIM:301081
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Limb hypertonia, Short stature, Pancytopenia, Thrombocytopenia, Ne... OMIM:606054
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... ORPHA:91387
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Epiphyseal stippling, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:277450
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Exencephaly, Encephalocele, Finger syndactyly, Long philtrum, Broad th... ORPHA:2211
Dengue Fever
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Ging... ORPHA:99828
Cleft palate, Encephalocele, Median cleft lip ORPHA:3374
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Isovaleric Acidemia
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Cerebral Visual Impairment
Ischemic stroke, Cerebral palsy, Clumsiness, Oculomotor apraxia, Hydrocephalus, Intracranial hemo... ORPHA:447788
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Holoprosencephaly, Narr... ORPHA:2166
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Hypoplasia of the frontal bone, Cranium bifidum occultum, Hypoplasia of ... ORPHA:306542
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Kaposiform Lymphangiomatosis
Anemia, Abnormality of the ischium, Epidural hemorrhage, Abnormal spleen morphology, Abnormal lym... ORPHA:464329
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Ventriculomegaly, Delayed eruption of teeth, Disproportionate short-trunk short stature, Spastici... ORPHA:1855
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Meckel Syndrome
Asplenia, Preaxial hand polydactyly, Encephalocele, Furrowed tongue, Aplasia/Hypoplasia of the to... ORPHA:564
Limb Body Wall Complex
Encephalocele, Myelomeningocele, Cutaneous finger syndactyly, Spina bifida, Short umbilical cord,... ORPHA:2369
Hemophilia A
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... ORPHA:98878
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Coxa valga, Ventriculomegaly, Cerebral palsy, High palate, Deep philtrum, Hip dysplasia, Microgna... OMIM:619833
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Small hand, Kyphosis, Abnormal... ORPHA:2911
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Short philtrum, Abnormal bleeding, Bruising... OMIM:185070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Meni... OMIM:236670
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly OMIM:614195
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Ventriculomegaly, Petechiae, Lateral ventricle dilatation, Cerebral hem... OMIM:617397
4Q21 Microdeletion Syndrome
Small hand, Ventriculomegaly, Kyphosis, Toe syndactyly, Short philtrum, Downturned corners of mou... ORPHA:238750
Holoprosencephaly 5
Syntelencephaly, High palate, Lateral ventricle dilatation, Deep philtrum, Hydrocephalus, Semilob... OMIM:609637
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, High palate, Ventriculomegaly, Short stature, Thick lower lip vermilion, Micrognath... OMIM:618342
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cerebral hemorrhage, Osteolysis involvi... ORPHA:464321
Band Heterotopia
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus cal... OMIM:600348
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... OMIM:615157
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Parkes Weber Syndrome
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:90307
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Cleft upper lip, Encephalocele, Ventriculomegaly, Toe syndactyly... OMIM:100300
Menkes Disease
Chorea, Spasticity, Vascular dilatation, Abnormal carotid artery morphology, Micrognathia, Intrau... ORPHA:565
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Natal tooth, Micrognathia, Aplasia of t... OMIM:615948
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... OMIM:253010
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ... ORPHA:1452
Noonan Syndrome
High palate, Short stature, Thick lower lip vermilion, Micrognathia, Abnormal platelet function, ... ORPHA:648
Pagod Syndrome
Meningocele, Sudden cardiac death, Abnormal aortic morphology, Encephalocele, Short stature, Spin... ORPHA:991
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Colpocephaly OMIM:614870
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Spastic tetraplegia, Myoclonus, Scoliosis, Prolonged prothrombin time, Clonus, Intraventricular h... OMIM:619055
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Parkinsonism, Hemiparesis, Tremor, Scoliosis, Dystonia, Bradykinesia ORPHA:306669
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, High palate, Long philtrum, Lateral ventricle dilatation, Clumsiness, Paraparesis, My... OMIM:617854
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... OMIM:213600
49,Xxxxy Syndrome
Pulmonary embolism, Mandibular prognathia, Coxa valga, Short stature, Delayed eruption of teeth, ... ORPHA:96264
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, High palate, Kyphosis, Premature occlusive vascular stenosis, Cerebral hemorr... OMIM:177850
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Poor fine motor coordination, Pulmonary embolism, Pulmonary arterial hypertension, Megaloblastic ... ORPHA:79282
Joubert Syndrome 39
Oculomotor apraxia, Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th ... OMIM:619562
Familial Afibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Cerebral hemorrhage ORPHA:98880
Tempi Syndrome
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased circulatin... ORPHA:284227
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... ORPHA:465
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Anemia, Short stature, Hypertension, Arterial stenosis, Tremor, Hypertonia, Corona... ORPHA:1192
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Dilated third ventricle, Resting tremor, Lateral ventricle dilatation, ... ORPHA:363654
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation, Micrognathia, Camptodactyly, Butterfly vertebrae, Smooth philtrum, ... OMIM:611209
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, 2-3 toe syndactyly, Torsade de pointes, Micrognathia, Ventri... ORPHA:37553
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Cerebral palsy, Intracranial hemorrhage, Hypertension, Spastic p... ORPHA:369929
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Constricting Bands, Congenital
Cleft upper lip, Encephalocele, Hand polydactyly, Syndactyly, Scoliosis, Cleft palate OMIM:217100
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, High palate, Small hand, Lateral ventricle dilatation, High, narrow pal... OMIM:612863
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... ORPHA:99827
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Spastic tetraplegia, Limb hypertonia, Long philtrum, Ataxia, Dysmetria, Tremor,... OMIM:617710
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Lateral ventricle dilatation, Apraxia, Hand tremor, Ataxia, Babinski sign, Dystonia OMIM:615889
Autosomal Dominant Cerebellar Ataxia
Tongue atrophy, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action t... ORPHA:99
Classic Homocystinuria
Pulmonary embolism, Genu valgum, High palate, Kyphosis, Subcutaneous hemorrhage, Arteriovenous ma... ORPHA:394
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Mandibular prognathia, Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Diap... OMIM:259710
Roberts-Sc Phocomelia Syndrome
Absent thumb, Tetraphocomelia, Micrognathia, Phocomelia, Radial deviation of finger, Cleft palate... OMIM:268300
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... OMIM:263400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, 2-3 toe syndactyly, Mandibular prognathia, Cerebral palsy, Lateral ventricle dilata... OMIM:618914
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Spasticity, High palate, Limb hypertonia, Short stature, Clinodactyly of the 5th finger, Thin upp... OMIM:618480
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Spasticity, Rhizomelia, Micrognathia, Myoclonus, Choreoathetosis, Abnormal bleeding, ... OMIM:616271
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia, Babinski sign ORPHA:73256
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Chromosome 18Q Deletion Syndrome
Ascending tubular aorta aneurysm, Ventriculomegaly, Toe syndactyly, Bifid uvula, Overlapping toe,... OMIM:601808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Agenesis o... OMIM:615287
Cerebellar ataxia associated with quadrupedal gait, Cerebellar hemorrhage, Hydrocephalus, Ataxia,... ORPHA:616
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Narrow palate, Long philtrum, Short stature, Subcutaneous hemorrhage, Arterioveno... ORPHA:109
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Small hand, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia... OMIM:300055
Amelocerebrohypohidrotic Syndrome
Spasticity, Short stature, Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfe... ORPHA:1946
Leukocyte Adhesion Deficiency
Gingivitis, Acute myeloid leukemia, Recurrent aphthous stomatitis, Perianal abscess, Short statur... ORPHA:2968
Halperin-Birk Syndrome
High palate, Ventriculomegaly, Spastic tetraplegia, Pseudobulbar paralysis, Agenesis of corpus ca... OMIM:618651
Knobloch Syndrome 2
Patent ductus arteriosus, Enamel hypoplasia, Micrognathia, Encephalocele OMIM:618458
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Delayed eruption of teeth, ... OMIM:614381
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Flared iliac wing, Anterior... OMIM:253200
Pyruvate Dehydrogenase Deficiency
Spasticity, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx of the 4th toe, Ven... ORPHA:765
Arnold-Chiari Malformation Type Ii
Meningocele, Spasticity, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Paraparesis, Hy... ORPHA:1136
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy... ORPHA:99901
Global Developmental Delay With Or Without Impaired Intellectual Development
Poor fine motor coordination, Patent ductus arteriosus, Lateral ventricle dilatation, Short statu... OMIM:618330
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Thrombocytopenia, Neutropenia, Cardiomyopathy OMIM:251000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Tapered finger, Ventriculomegaly, Hydrocephalus, Short philtrum, Microretr... OMIM:613603
Distal Monosomy 10Q
Poor fine motor coordination, Tapered finger, Lateral ventricle dilatation, Oculomotor apraxia, M... ORPHA:96148
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Myoclonus, Choreoathetosis, Ataxia, Spastic para... ORPHA:726
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Scoliosis, Agenesi... OMIM:618736
Fraser Syndrome 1
Difficulty in tongue movements, Aplasia/Hypoplasia of the thumb, Cleft upper lip, Wide pubic symp... OMIM:219000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Macrocytic anemia, Thromb... ORPHA:27
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epista... OMIM:187300
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Hemiparesis, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hyp... ORPHA:494424
Gm1 Gangliosidosis
Camptodactyly of finger, Hepatosplenomegaly, Abnormal metaphysis morphology, Gingival overgrowth,... ORPHA:354
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Paraparesis, Ataxia, Tremor, Scoliosis ORPHA:99014
Pseudo-Torch Syndrome 3
Anemia, Cerebral hemorrhage, Hypertension, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Vater/Vacterl Association
Triphalangeal thumb, Patent ductus arteriosus, Spina bifida, Short thumb, Hypoplasia of the radiu... OMIM:192350
Cerebral Creatine Deficiency Syndrome 2
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... OMIM:612736
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Shor... ORPHA:397946
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Parkinsonism, Short stature, Congestive heart failure, Kyphoscoliosis, Tremor, Lo... ORPHA:3077
Hutchinson-Gilford Progeria Syndrome
Coxa valga, Left ventricular diastolic dysfunction, Delayed eruption of teeth, Short lingual fren... ORPHA:740
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage, Scoliosis, Platyspondyly, Vertebral compression fract... OMIM:616507
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Cerebral amyloid angiopathy... OMIM:605714
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
16Q24.3 Microdeletion Syndrome
High palate, Ventriculomegaly, Kyphosis, Long philtrum, Wide mouth, Hip dysplasia, Micrognathia, ... ORPHA:261250
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Shoulder dislocation, High palate, Cerebral hemorrhage, Short... ORPHA:536545
Kohlschutter-Tonz Syndrome-Like
2-3 toe syndactyly, Ventriculomegaly, Lateral ventricle dilatation, Delayed eruption of teeth, Sm... OMIM:619229
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Sponta... OMIM:600376
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
2-3 toe syndactyly, Dilated fourth ventricle, Lobulated tongue, Ventriculomegaly, Lateral ventric... OMIM:613443
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short sternum, Retrognathia, Patent ductus arteriosus, High palate, Clinodactyly of the 4th toe, ... OMIM:620113
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Short philtrum, Cervical platyspondyly, Downturned corners of mouth, Tooth agenesis, Scoliosis, M... OMIM:618731
Joubert Syndrome 21
Oculomotor apraxia, Occipital encephalocele, Ataxia OMIM:615636
Frontofacionasal Dysplasia
Hypoplasia of the frontal bone, Cleft upper lip, Cranium bifidum occultum, Bifid uvula, Malar fla... OMIM:229400
Weaver Syndrome
Poor fine motor coordination, Coxa valga, Ventriculomegaly, Lateral ventricle dilatation, Camptod... OMIM:277590
Witteveen-Kolk Syndrome
Ventriculomegaly, Toe syndactyly, Overlapping toe, Radial deviation of finger, Smooth philtrum, C... OMIM:613406
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Bone marrow hypocellularity, Thrombocytopenia, Postnatal growth retardati... OMIM:612199
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Tapered toe, Tapered finger, Ventriculomegaly, Narrow palate,... OMIM:608836
Knobloch Syndrome
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus ORPHA:1571
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Martsolf Syndrome 2
Camptodactyly of finger, Spastic diplegia, Lateral ventricle dilatation, Short stature, Camptodac... OMIM:619420
Fraser Syndrome
Dental malocclusion, Cleft upper lip, Myelomeningocele, Encephalocele, Wide pubic symphysis, Fing... ORPHA:2052
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Spina bifi... OMIM:618060
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Hip dysplasia, Paraparesis, Scoliosis OMIM:302802
Craniosynostosis 6
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Scoliosis, Agenesi... OMIM:616602
Purine Nucleoside Phosphorylase Deficiency
Spastic diplegia, Decreased lymphocyte proliferation in response to mitogen, Neutropenia in prese... OMIM:613179
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Spasticity, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Thin upper lip vermil... OMIM:619517
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Knobloch Syndrome 1
Patent ductus arteriosus, Ventriculomegaly, Occipital meningocele, Ataxia, Spina bifida occulta, ... OMIM:267750
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, Wide anterior fontanel, High palate, ... OMIM:269300
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Genu valgum, Spastic ataxia, Normal pressure hydrocephalus, Spastic tetraplegia, Spas... ORPHA:300570
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Anemia, Transient ischemic attack, Supraventricular arrhythmia, Neutrophilia,... ORPHA:3260
Hemorrhagic Fever-Renal Syndrome
Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ... ORPHA:340
Severe X-Linked Intellectual Disability, Gustavson Type
Triphalangeal thumb, Dilated fourth ventricle, Spasticity, Lateral ventricle dilatation, Microgna... ORPHA:3078
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ankle clonus, High palate, Lateral ventricle dilatation, Short stature, Frequent falls, Scoliosis... OMIM:619995
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short stature, Hypoplasia of the radius, Fused cervical verte... OMIM:609053
Superficial Siderosis
Abnormal pyramidal sign, Enlarged sylvian cistern, Abnormal vertebral artery morphology, Dysdiado... ORPHA:247245
Familial Hyperaldosteronism Type Iii
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension ORPHA:251274
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Frontotemporal Dementia With Motor Neuron Disease
Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis,... ORPHA:275872
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... OMIM:607483
Joubert Syndrome 5
Oculomotor apraxia, Occipital encephalocele, Ataxia, Cleft palate OMIM:610188
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Tapered finger, 2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint o... OMIM:300998
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Rigidity, Paraparesis, Torticollis, Parkinsonism with favorable respons... OMIM:606693
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Hand tremor, Limb ataxia, Ataxia, Tongue fasciculations, Fasciculat... OMIM:607596
Bilateral Generalized Polymicrogyria
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Eyelid myoclonus, Short stature, O... ORPHA:208447
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft palate, Micrognathi... OMIM:619472
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Shortening of all distal phalanges of the fingers, Thin upper lip v... OMIM:615716
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Stomatitis, Glossitis, Growth delay, Cleft palate, Intraventricular hemorrh... ORPHA:79284
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, High palate, Ventriculomegaly, Limb hypertonia, Spastic tetraplegia, La... ORPHA:572798
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Micrognathia, Rocker bottom foot, Overlapping fingers OMIM:618266
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... OMIM:200990
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Hypoplasia of the thymus, T lymphocytopenia, Choreoathetosis, Acute lymphoblastic leukemia, Decre... OMIM:208900
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Dilated fourth ventricle, Lateral ventricle dilatation, Scoliosis, Open... OMIM:617751
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Dilated third ventricle, Lateral ventricle dilatation, Broad distal phalanx o... ORPHA:464738
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Hypertrophic cardiom... ORPHA:96
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Micrognathia, Myoclonus, Spastic tetraparesis, Hypertonia, Intraute... ORPHA:284417
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Limb hypertonia, Lateral ventricle dilatation, Babinski sign, Leg dystonia, Promine... ORPHA:565624
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Incoordination, Babinski sign, Dysmetria, Tremor, Frequent falls OMIM:302800
Riddle Syndrome
Poor hand-eye coordination, Telangiectasia, Decreased circulating total IgM, Short stature, Clums... ORPHA:420741
48,Xxxy Syndrome
Pulmonary embolism, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Taurodontia, Hi... ORPHA:96263
Acute Liver Failure
Hypotension, Hepatocellular necrosis, Hepatic necrosis, Abnormal bleeding, Incoordination, Ataxia... ORPHA:90062
Craniofacial Microsomia
Vertebral hypoplasia, Micrognathia, Cleft palate, Genu valgum, Branchial anomaly, Block vertebrae... OMIM:164210
Cockayne Syndrome Type 3
Aortic root aneurysm, Enamel hypoplasia, Splenomegaly, Retinal hemorrhage, Kyphosis, Mild postnat... ORPHA:90324
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Limb hypertonia, Spastic gait, Lower limb spasticity, Colpocephaly ORPHA:401815
Koolen-De Vries Syndrome Due To A Point Mutation
Hyperlordosis, Arachnodactyly, Cardiomyopathy, Ventriculomegaly, Kyphosis, Spina bifida, Postnata... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hyperlordosis, Arachnodactyly, Cardiomyopathy, Ventriculomegaly, Kyphosis, Spina bifida, Postnata... ORPHA:363958
Hellp Syndrome
Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased ... ORPHA:244242
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, Panhypogammaglobulinemia, T lym... ORPHA:79124
Dworschak-Punetha Neurodevelopmental Syndrome
Dilation of Virchow-Robin spaces, Microdontia, Dysplastic corpus callosum, Agenesis of corpus cal... OMIM:619955
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... OMIM:610655
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Adams-Oliver Syndrome 2
Limb hypertonia, Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Absent distal phalang... OMIM:614219
Oculodentodigital Dysplasia
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Spasticity, Br... OMIM:164200
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Cervical spondylosis, Spastic paraplegia ORPHA:101005
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Vascular dilatation, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus,... OMIM:602200
Orofaciodigital Syndrome Type 1
Lip pit, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Odontogenic neoplasm, Cleft ... ORPHA:2750
Cach Syndrome
Spasticity, Spastic diplegia, Lateral ventricle dilatation, Truncal ataxia, Hemiparesis, Limb ata... ORPHA:135
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Orofaciodigital Syndrome I
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... OMIM:311200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Ataxia, Partial agenesis of the corpus callosum, ... ORPHA:79243
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Camptodactyly, Subependymal cysts, Thin vermilion border, Neonatal ... OMIM:610015
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Short palm, Lateral ventricle dilatation OMIM:300982
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Khan-Khan-Katsanis Syndrome
Anemia, Bilateral superior vena cava with no bridging vein, Ventriculomegaly, Tricuspid regurgita... OMIM:618460
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Retrognathia, Mandibular prognathia, Coxa valga, High palate, Slender long bones with narrow diap... OMIM:620083
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... ORPHA:2177
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ventriculomegaly, Rigidity, Torticollis, Ataxia, Tremor, Tetraparesis, Myelopathy, Cervical myelo... OMIM:617186
Abnormal third ventricle morphology, Lateral ventricle dilatation, Orofacial cleft ORPHA:141091
Pontocerebellar Hypoplasia, Type 13
Gait ataxia, Thick upper lip vermilion, High palate, Lateral ventricle dilatation, Macrodontia, S... OMIM:618606
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon, Ventriculomegaly ORPHA:401986
Mosaic Trisomy 1
Camptodactyly of finger, Lateral ventricle dilatation, 2-3 finger syndactyly, Toe syndactyly, Abs... ORPHA:1692
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Ataxia, Stroke-like episode, Tremor, Growth delay, Li... OMIM:222300
Anemia, Clinodactyly, Camptodactyly, Intracranial hemorrhage, Ataxia, Prolonged QT interval, Trem... ORPHA:86309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Long philtrum, Intrauterine growth retardation, Hypertension, Microretrognathia, Ataxia, Hypertro... OMIM:614052
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Tetraparesis OMIM:105550
Campomelic Dysplasia
Short phalanx of finger, Irregular dentition, Spinal dysraphism, Hallux valgus, Micrognathia, Hip... OMIM:114290
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Spasticity, Hemolytic anemia, Ischemic stroke, Cerebral hemorrhage, Hemipares... OMIM:175780
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Paraparesis, Congestive heart failure, Kyphoscoliosis, Spinal arterio... ORPHA:53721
Malan Overgrowth Syndrome
High palate, Ventriculomegaly, Lateral ventricle dilatation, Slender long bone, Episodic ataxia, ... ORPHA:420179
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Aicardi-Goutières Syndrome
Ventriculomegaly, Hemiplegia/hemiparesis, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Hypert... ORPHA:51
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Long philtrum, Lateral ventricle dilatation, Wide mouth, Thick lower lip vermilion, Clinodactyly ... OMIM:620075
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Long philtrum, Lateral ventricle dilatation, Progressive spasticity OMIM:619972
Weiss-Kruszka Syndrome
Ventriculomegaly, Clinodactyly of the 5th finger, Proximal placement of thumb, Broad philtrum, Ex... OMIM:618619
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Short femur, Femoral bowing, Osteosclerosis of the ulna, Tetraparesis, Premature los... OMIM:602080
Loeys-Dietz Syndrome 3
Aortic tortuosity, Bifid uvula, Camptodactyly, Ascending aortic dissection, Thoracic aortic aneur... OMIM:613795
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Intracranial hemorrhage, Abnormality of the sphenoid sinus ORPHA:91350
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Cerebral palsy, Lateral ventricle dilatation, Limb dystonia, Myo... OMIM:619847
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Macroglossia, Diaphragma... OMIM:232300
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Short stature, Thin upper lip vermilion, Subdural hemorrhage, Hypertonia, ... OMIM:619714
Polymicrogyria Due To Tubb2B Mutation
Hemiparesis, Agenesis of corpus callosum, Oromotor apraxia, Lateral ventricle dilatation ORPHA:300573
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Lateral ventricle dilatation, Micrognathia, Hip dislocation, Short femur, Cleft vertebral arch, B... OMIM:210710
Aicardi-Goutieres Syndrome 9
Spasticity, Anemia, Hemolytic anemia, Spastic tetraplegia, Spastic diplegia, Lateral ventricle di... OMIM:619487
Neurodegeneration With Brain Iron Accumulation 3
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... OMIM:606159
Peroxisome Biogenesis Disorder 5A (Zellweger)
High palate, Wide anterior fontanel, Tricuspid regurgitation, Heart murmur, Micrognathia, Epiphys... OMIM:614866
Noonan Syndrome 14
Long philtrum, Kyphosis, Lateral ventricle dilatation, Wide mouth, Short stature, Clinodactyly, L... OMIM:619745
Rift Valley Fever
Retinal hemorrhage, Anemia, Hemiparesis, Paraparesis, Paralysis, Abnormal bleeding, Gingival blee... ORPHA:319251
Cockayne Syndrome A
Ventriculomegaly, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Splenomegaly,... OMIM:216400
Bartter Syndrome, Type 2, Antenatal
Short stature, Low-to-normal blood pressure, Impaired platelet aggregation OMIM:241200
Unilateral Hemispheric Polymicrogyria
Hemiparesis, Lateral ventricle dilatation ORPHA:101071
Dystonia 1, Torsion, Autosomal Dominant
Hyperlordosis, Blepharospasm, Kyphosis, Writer's cramp, Torticollis, Babinski sign, Torsion dysto... OMIM:128100
Gabriele-De Vries Syndrome
Pierre-Robin sequence, Hallux valgus, Finger joint hypermobility, Lateral ventricle dilatation, T... OMIM:617557
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Spastic tetraparesis, Dystonia, Lateral ventricle dilatation OMIM:617668
Smith-Lemli-Opitz Syndrome
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Bifid u... OMIM:270400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Apraxia, Myoclonus, Babinski sign OMIM:221770
Chediak-Higashi Syndrome
Gingivitis, Leukopenia, Anemia, Periodontitis, Spontaneous, recurrent epistaxis, Ataxia, Bruising... OMIM:214500
Cerebrotendinous Xanthomatosis
Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Palatal tremor, Abnormality of... ORPHA:909
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Lateral ventricle dilatation, Short philtrum, Broad hallux, Tented up... OMIM:614105
Holoprosencephaly 13, X-Linked
Vertebral clefting, Double outlet right ventricle, Patent ductus arteriosus, Thoracic hemivertebr... OMIM:301043
Alexander Disease
Chorea, Hyperlordosis, Spasticity, Abnormal pyramidal sign, Tetraplegia, Aqueductal stenosis, Kyp... ORPHA:58
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Micrognathia, Bifid uvula, Overlapping toe, Everted lower lip vermi... ORPHA:177907
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis ORPHA:231445
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Micrognathia, Subependymal cysts, Aortic regurgitation, Cardiomyopathy OMIM:600721
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation OMIM:616816
Glutaric Acidemia I
Spastic diplegia, Lateral ventricle dilatation, Rigidity, Choreoathetosis, Hydrocephalus, Opistho... OMIM:231670
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Lateral ventricle dilatation, Hydrocephalus, Decreased c... OMIM:612301
Neoplasm of the tongue, Cerebral hemorrhage, Hemiparesis, Hydrocephalus, Syncope, Ataxia, Abnorma... ORPHA:2495
Acute Transverse Myelitis
Spasticity, Abnormality of extrapyramidal motor function, Paraparesis, Upper motor neuron dysfunc... ORPHA:139417
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Intracranial hemorrhage, Congestive heart fa... ORPHA:363618
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Ventriculomegaly, Wide mouth, Deep philtrum, Mitral stenosis, Short sta... OMIM:617260
Joubert Syndrome 3
Lateral ventricle dilatation, Oculomotor apraxia, Ataxia, Open mouth, Enlarged fossa interpeduncu... OMIM:608629
Camptodactyly of finger, Retrognathia, Genu valgum, High palate, Lateral ventricle dilatation, Sh... ORPHA:263487
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... OMIM:171300
Gait ataxia, Chorea, Blepharospasm, Parkinsonism, Rigidity, Torticollis, Limb ataxia, Congestive ... ORPHA:48818
Helsmoortel-Van Der Aa Syndrome
Polydactyly, Tapered finger, Ventriculomegaly, Lateral ventricle dilatation, Microdontia, Broad h... OMIM:615873
Paganini-Miozzo Syndrome
Mandibular prognathia, Lateral ventricle dilatation, Downturned corners of mouth, Thin vermilion ... OMIM:301025
Bainbridge-Ropers Syndrome
Retrognathia, High palate, Lateral ventricle dilatation, Wide mouth, Micrognathia, Dental crowdin... OMIM:615485
Abeta Amyloidosis, Dutch Type
Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage ORPHA:100006
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Short stature ORPHA:90795
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Lateral ventricle dilatation ORPHA:77299
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Limb hypertonia, Spastic gait, Lateral ventricle dilatation, Short philt... OMIM:617296
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Gait ataxia, Chorea, Abnormal pyramidal sign, Increased circulating antibody level, Oculomotor ap... OMIM:606002
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Anemia, Delayed eruption of teeth, Premature loss of primary tee... ORPHA:667
Cockayne Syndrome B
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Normal pressure hydrocephalus... OMIM:133540
Aicardi Syndrome
Dilated third ventricle, Cleft upper lip, Lateral ventricle dilatation, Block vertebrae, Spina bi... OMIM:304050
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Spasticity, Hypertonia, Lateral ventricle dilatation OMIM:618890
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, High palate, Long philtrum, Kyphosis, Lateral ventricle dilatation, Shor... OMIM:619244
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Wide anterior fontanel, Lateral ventricle dilatation, Long philtrum, Submucous cleft... ORPHA:457279
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenu... ORPHA:2751
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Retrognathia, Spasticity, Dilated third ventricle, Tapered toe, Tapered finger, Lateral ventricle... ORPHA:544488
Farber Disease
Short toe, Spasticity, Anemia, Short stature, Paraparesis, Myoclonus, Short finger, CNS foam cell... ORPHA:333
Acys Amyloidosis
Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage ORPHA:100008
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polydactyly, Micrognathia, Broad hallux, Abnormal subclavian artery morphology, Widened distal ph... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polydactyly, Micrognathia, Broad hallux, Abnormal subclavian artery morphology, Widened distal ph... ORPHA:353277
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Wide mouth, Lateral ventricle dilatation, Growth delay, Thick vermilion bo... ORPHA:85290
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Submucous cleft soft palate, Synostosis of the proximal phalanx of the thumb with ... OMIM:300967
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Stroke, Myocardial... OMIM:274150
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:615219
Parkinson Disease 14, Autosomal Recessive
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... OMIM:612953
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Patent ductus arteriosus after birth at term, Ventriculomegaly, Lateral ventricle d... ORPHA:500150
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Progressive spasticity, Parkinsonism, Abnormality of extrapyramidal... ORPHA:2822
Gaucher Disease
Pulmonary arterial hypertension, Anemia, Ventriculomegaly, Short stature, Increased circulating a... ORPHA:355
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Short stature, Hydrocephalus, Junctional ectopic tachycardia, Arrhyt... OMIM:309801
Lateral ventricle dilatation ORPHA:79326
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Lateral ventricle dilatation, Car... OMIM:300952
Williams Syndrome
Sudden cardiac death, Aortic arch aneurysm, Hallux valgus, Abnormal carotid artery morphology, Ab... ORPHA:904
Truncal ataxia, Paraparesis, Limb ataxia, Incoordination, Spastic paraplegia, Slurred speech OMIM:300100
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Hemiparesis, Clumsiness, Paraparesis, Paralysis, Incoordination ORPHA:43
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage, Clinodactyly of the 5th finger, Overlapping toe, H... OMIM:616682
Nelson Syndrome
Hypertension, Intracranial hemorrhage, Abnormality of the sphenoid sinus ORPHA:199244
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Short stature, Hydrocephalus, Short philtr... OMIM:619575
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Truncal ataxia, Short femur, Hypoplastic vertebral b... ORPHA:3455
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Lateral ventricle dilatation, Short long bone, Short lingual frenulum, Microdon... OMIM:619479
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal sign, Scolio