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
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Dk Phocomelia Syndrome
Phocomelia, Encephalocele, Thrombocytopenia OMIM:223340
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Frontonasal Dysplasia 1
Median cleft palate, Brachydactyly, Tetralogy of Fallot, Camptodactyly, Postaxial hand polydactyl... OMIM:136760
Isolated Dandy-Walker Malformation
Dandy-Walker malformation, Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Moyamoya Disease With Early-Onset Achalasia
Stroke, Raynaud phenomenon, Abnormal platelet aggregation, Moyamoya phenomenon, Abnormal cerebral... ORPHA:401945
Cocaine Embryofetopathy
Short distal phalanx of finger, Hypertonia, Encephalocele ORPHA:1911
Joubert Syndrome 14
Growth delay, Hydrocephalus, Ataxia, Malar flattening, Postaxial polydactyly, Short philtrum, Ren... OMIM:614424
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Cleft palate, Holoprosencephaly, Short stature, M... ORPHA:1908
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Subependymal Nodular Heterotopia
Myelomeningocele, Abnormal ethmoid bone morphology, Limb myoclonus, Partial agenesis of the corpu... ORPHA:101030
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Downturned corners of mouth, Thin up... ORPHA:521308
Hartsfield Syndrome
Intrauterine growth retardation, Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline clef... ORPHA:2117
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... ORPHA:231393
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Oral cleft ORPHA:324416
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Preaxial polydactyly, Choroid plexus... OMIM:603671
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... OMIM:614072
Joubert Syndrome 16
Polydactyly, Renal cyst, Oculomotor apraxia, Encephalocele, Dandy-Walker malformation OMIM:614465
Meckel Syndrome 13
Ataxia, Micrognathia, Polycystic kidney dysplasia, Oculomotor apraxia, Occipital encephalocele OMIM:617562
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A, Encephalocele ORPHA:1003
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micrognathia, Postaxial hand polydactyly, Median cleft lip, Hip disl... OMIM:241800
Thanatophoric Dysplasia Type 2
Kyphosis, Hydrocephalus, Holoprosencephaly, Short stature, Platyspondyly, Brachydactyly, Patent d... ORPHA:93274
Enlarged Parietal Foramina
Myelomeningocele, Short clavicles, Cleft palate, Abnormal cerebral vein morphology, Broad thumb, ... ORPHA:60015
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Progressive spastic quadriplegia OMIM:200130
Meckel Syndrome, Type 2
Cleft palate, Anencephaly, Polydactyly, Postaxial hand polydactyly, Renal cyst, Bowing of the lon... OMIM:603194
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Hydrocephalus, Hypertonia, Arteriovenous malformatio... ORPHA:974
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... ORPHA:2585
Griscelli Syndrome
Hydrocephalus, Ataxia, Splenomegaly, Short stature, Leukopenia, Abnormality of neutrophils, Decre... ORPHA:381
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Agenesis of corpus callosum, Dan... OMIM:164180
Meckel Syndrome, Type 10
Cleft palate, Postaxial polydactyly, Anencephaly, Bifid uvula, Dilated fourth ventricle, Camptoda... OMIM:614175
Meckel Syndrome, Type 4
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Bowing of the l... OMIM:611134
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... OMIM:619374
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Oculoauriculofrontonasal Syndrome
Narrow mouth, Cleft palate, Encephalocele, Micrognathia, Scoliosis, Cleft lip, Broad philtrum ORPHA:398156
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Polydactyly, Postaxial hand polydactyly, Encephalocele OMIM:613885
Craniotelencephalic Dysplasia
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Distal Monosomy 13Q
Hypertonia, Holoprosencephaly, Short stature, Anencephaly, Abnormal form of the vertebral bodies,... ORPHA:1590
Parietal Foramina 1
Cleft upper lip, Encephalocele, Cleft palate OMIM:168500
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... OMIM:619148
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Parietal Foramina 2
Encephalocele OMIM:609597
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Hydrocephalus, Neonatal short-limb short stature, Severe s... OMIM:224400
Parietal Foramina 3
Encephalocele OMIM:609566
Lissencephaly 5
Spastic paraplegia, Hydrocephalus, Occipital encephalocele OMIM:615191
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Hydrocephalus, Abnormal mast cell morphology, Cleft palate, Intracranial hemorrh... ORPHA:398189
Pseudoprogeria Syndrome
Short stature, Progressive spastic quadriplegia, Cranium bifidum occultum, Spinal arachnoid cyst,... ORPHA:2985
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Renal cyst, Spasticity, Ventriculomegaly, Occipital encephalocele, Ag... OMIM:615287
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
Coach Syndrome 1
Wide mouth, Ataxia, Growth delay, Splenomegaly, Hypertension, Postaxial hand polydactyly, Renal c... OMIM:216360
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Joubert Syndrome 9
Oculomotor apraxia, Encephalocele, Scoliosis, Ventriculomegaly OMIM:612285
Joubert Syndrome 7
Ataxia, Postaxial polydactyly, Scoliosis, Postaxial hand polydactyly, Genu valgum, Renal cyst, Oc... OMIM:611560
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly OMIM:218670
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Lissencephaly 8
Appendicular spasticity, Occipital encephalocele, Ventriculomegaly OMIM:617255
Dural Sinus Malformation
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Poor coordination, Cer... ORPHA:97339
Joubert Syndrome With Renal Defect
Hydrocephalus, Ataxia, Cleft palate, Scoliosis, Oral cleft, Tremor, Hand polydactyly, Oculomotor ... ORPHA:220497
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Leber Congenital Amaurosis
Encephalocele, Hemiplegia/hemiparesis ORPHA:65
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Joubert Syndrome With Ocular Defect
Hydrocephalus, Ataxia, Cleft palate, Scoliosis, Oral cleft, Abnormal vertebral morphology, Tremor... ORPHA:220493
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly OMIM:614416
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Broad philtrum, Intrauterine growth r... ORPHA:228390
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Lumbar hyperlordosis, Macroglossia, Abnormal pyramidal sign, Dilated fourth ventri... ORPHA:370959
Schisis Association
Cleft palate, Anencephaly, Unilateral cleft lip, Encephalocele, Spina bifida ORPHA:63862
Sneddon Syndrome
Hemiplegia, Lymphopenia, Stroke, Cerebral hemorrhage, Decreased circulating total IgM, Tremor, Hy... OMIM:182410
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Rhizomelia, Multinucleated giant chondrocytes in ep... OMIM:108720
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Brain Small Vessel Disease 2
Hemiplegia, Intracranial hemorrhage, Spastic tetraplegia, Ventriculomegaly, Growth delay OMIM:614483
Kyphosis, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG le... ORPHA:79329
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Venous insufficiency, Deviation of finger ORPHA:903
Otopalatodigital Syndrome Type 2
Hydrocephalus, Cleft palate, Bowing of the long bones, Encephalocele, Carpal synostosis, Flared i... ORPHA:90652
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hydrocephalus, Narrow mouth, Severe short stature, Cleft palate, Hypoplastic ... ORPHA:1865
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Joubert Syndrome
Hydrocephalus, Ataxia, Scoliosis, Abnormal form of the vertebral bodies, Oral cleft, Tremor, Hand... ORPHA:475
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Holoprosencephaly, Short femur, Scoliosis, Anterior encephalocele, Bilateral cle... OMIM:601357
Acromelic Frontonasal Dysplasia
Wide mouth, Aplasia/Hypoplasia of the tibia, Median cleft palate, Encephalocele, Choroid plexus c... ORPHA:1827
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Stroke, Cerebral vasculitis, Intracranial hemorrhage, Parkinsonism, Hemipare... ORPHA:140989
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Abnormality of the dentition, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Meckel Syndrome, Type 5
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... OMIM:611561
Snakebite Envenomation
Pseudobulbar paralysis, Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage... ORPHA:449285
Meckel Syndrome, Type 3
Hydrocephalus, Cleft palate, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyl... OMIM:607361
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Subcutaneous hemorrhage, Short philtrum, Pulmonary hemorrhage, Aortic regurgitation, Macr... OMIM:603585
Lumbar hyperlordosis, Basal encephalocele, Cleft palate, Camptodactyly of finger, Bifid tongue, B... ORPHA:391474
Sneddon Syndrome
Intracranial hemorrhage, Hemiparesis, Chorea, Tremor, Arterial stenosis, Hypertension ORPHA:820
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Short digit, Rhizomelic arm shortening... ORPHA:397715
Gabriele-De Vries Syndrome
Malar flattening, Abnormality of the dentition, Long fingers, Tremor, Ventriculomegaly, Intrauter... OMIM:617557
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Arachnoid Cyst
Paraparesis, Hydrocephalus, Holoprosencephaly, Abnormal spinal meningeal morphology, Subarachnoid... ORPHA:2356
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Bifi... OMIM:616300
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Pentalogy Of Cantrell
Hydrocephalus, Cleft palate, Anencephaly, Scoliosis, Abnormality of tibia morphology, Oral cleft,... ORPHA:1335
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Periodontitis, Splenomegaly, Hepatosplenomegaly, Long philtrum,... OMIM:608233
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Pai Syndrome
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele ORPHA:1993
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Coarctation of aorta, Ethmoidal encephalocele ORPHA:280195
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Hemiparesis, Ventriculomegaly, Meningocele, Syringomyelia, Dandy-Walker ... ORPHA:2481
Fetal Gaucher Disease
High palate, Hypertonia, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonat... ORPHA:85212
Mirage Syndrome
Hydrocephalus, Petechiae, Lymphopenia, Short stature, Radial club hand, Leukopenia, Overlapping f... OMIM:617053
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Duplication Of The Pituitary Gland
Wide mouth, Abnormality of the tongue, Thoracic scoliosis, Supernumerary tooth, Cleft palate, Sho... ORPHA:314621
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Parkinsonism, Cerebral ischemia... ORPHA:136
Lissencephaly 4
Hypertonia, Short stature, Babinski sign, Growth delay, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Short stature, Small hand, Retrognathia, Broad finger, Short phalanx of fing... OMIM:300845
Myelomeningocele, Hydrocephalus, Narrow mouth, Holoprosencephaly, Anencephaly, Hyperlordosis, Ora... ORPHA:63259
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility OMIM:614076
Hydrocephalus, Chorea, Median cleft lip and palate, Solitary median maxillary central incisor, Sp... ORPHA:2162
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Ethmoid... OMIM:607597
Congenital Factor Vii Deficiency
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Ovarian cyst, Intracranial hem... ORPHA:327
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int... ORPHA:906
Pseudotrisomy 13 Syndrome
Cleft upper lip, Hydrocephalus, 2-3 toe syndactyly, Holoprosencephaly, Hemivertebrae, Coarctation... OMIM:264480
Meckel Syndrome, Type 1
Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Lobulated tongue, Bowing of the long bones,... OMIM:249000
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... ORPHA:274
Hypophosphatasia, Infantile
Bowing of the legs, Stillbirth, Metaphyseal cupping, Disproportionate short-limb short stature, V... OMIM:241500
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Ataxia, Scoliosis, Hand polydactyly, Encephalocele, Foot polydactyly ORPHA:2318
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Hemiplegia, Cerebral vasculitis, Eosinophilia, Decreased circulating total IgM, Subarachnoid hemo... OMIM:243700
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia OMIM:617443
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Cerebral palsy, Intra... ORPHA:853
Meckel Syndrome 14
Microretrognathia, Tricuspid regurgitation, Postaxial polydactyly, Holoprosencephaly, Retrognathi... OMIM:619879
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Subdural hemorrhage, Persistent bleeding after trauma, Bruisin... OMIM:202400
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Hydrocephalus, Narrow palate, Cleft palate, Postaxial ... OMIM:605627
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... OMIM:619172
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Hypoplasi... ORPHA:861
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... OMIM:614077
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Ataxia, Splenomegaly, Multicystic kidney dysplasia, Scoliosis, Oral cleft, Postaxi... ORPHA:1454
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Short stature, Retrognathia, Long philtrum, Moyamoya phenomenon, Dilated car... ORPHA:280679
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Cerebral h... ORPHA:331
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Hemiparesis, Aortic di... ORPHA:231160
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Exaggerated startle response, Holoprosencephaly, Pulmonic stenosis, Scoliosis, Dil... OMIM:253800
Frontofacionasal Dysplasia
Encephalocele, Short stature, Cleft palate, Non-midline cleft lip ORPHA:1791
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hyperextensibility of the finger joints, Hypermobility of toe joints, Gait ataxia, Growth delay, ... ORPHA:488635
Chédiak-Higashi Syndrome
Ataxia, Hemophagocytosis, Thrombocytopenia, Increased proportion of CD25+ mast cells, Tremor, Pan... ORPHA:167
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Pseudohypoparathyroidism Type 1A
Laryngeal dystonia, Delayed eruption of teeth, Short 3rd metacarpal, Broad distal phalanx of the ... ORPHA:79443
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Synco... ORPHA:90065
Joubert Syndrome 2
High palate, Hydrocephalus, Ataxia, Postaxial hand polydactyly, Renal cyst, Enlarged fossa interp... OMIM:608091
Osteogenesis Imperfecta
Abnormality of femur morphology, Hydrocephalus, Ataxia, Femoral bowing, Abnormality of the dentit... ORPHA:666
Abeta Amyloidosis, Iowa Type
Myoclonus, Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Adducted thumb, Retrognathia, Partial agenesis of the corpus callosum, Ventriculom... OMIM:614643
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Subependymal nodules, Subdural hemorrhage, Rigidity, Retinal hemorrhage, Communicating hy... ORPHA:25
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Menkes Disease
Hypertonia, Metaphyseal spurs, Short stature, Metaphyseal widening, Intracranial hemorrhage, Babi... OMIM:309400
Vacterl/Vater Association
Vertebral segmentation defect, Intrauterine growth retardation, Cleft palate, Preaxial hand polyd... ORPHA:887
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Bruising susceptibility, Finger joint hypermobility,... ORPHA:49042
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Postaxial hand polydact... OMIM:612284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Scoliosis, Ventriculomegaly, Encephal... OMIM:613150
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Coronary artery atherosclerosis, Reti... OMIM:210250
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... ORPHA:53719
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Periventricular Nodular Heterotopia 1
Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Clinodactyly, Short finger OMIM:300049
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage OMIM:603285
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged... ORPHA:49566
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... OMIM:183802
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Familial Multiple Nevi Flammei
Hemiplegia, Arteriovenous malformation, Intracranial hemorrhage, Scoliosis, Hemiparesis, Pulmonar... ORPHA:624
Abnormal lateral ventricle morphology, Clumsiness, Long philtrum, Adducted thumb ORPHA:324422
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, 2-3 toe syndactyly, Toe clinodactyly, Cleft palate, Short stature, Hyperextensibil... ORPHA:163979
Platyspondyly, Delayed eruption of teeth, Chorea, Disproportionate short-trunk short stature, Spa... ORPHA:1855
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Asymmetry of spinal facet joints OMIM:182940
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short distal phalanx of finger, Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, A... OMIM:277450
Frontonasal Dysplasia 2
Encephalocele, Widely spaced teeth, Conical tooth, Broad philtrum, Intrauterine growth retardation OMIM:613451
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Bruising susceptibility, Splenomegaly, Anemia, Fractures of the ... ORPHA:464329
Joubert Syndrome 8
Hypertonia, Ataxia, Occipital encephalocele, Oculomotor apraxia OMIM:612291
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Cerebral hemorrhage, Decreased circulating total IgM, Hepatosple... OMIM:301081
Acrofacial Dysostosis, Catania Type
Short stature, Spina bifida occulta, Carious teeth, Short palm, Intrauterine growth retardation OMIM:101805
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Sinusitis, Stroke, Eosinophilia, Intracranial hemorrhage, Abnormal long bone morphology, Neutrope... ORPHA:1163
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Hypotension, Gingival bleedi... ORPHA:99828
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Intrauterine growth retardation, Hydrocephalus, Ataxia, Coxa valga, Short stature, C... OMIM:619833
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Dandy-Walker malformation, Microgn... ORPHA:564
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Broad hallux phalanx, Long philtrum, Broad thumb, Exencephaly, Encepha... ORPHA:2211
4Q21 Microdeletion Syndrome
Motor stereotypy, Kyphosis, Small hand, Abnormality of the dentition, Short philtrum, Thin vermil... ORPHA:238750
Brain Small Vessel Disease 3
Spastic tetraplegia, Cerebral hemorrhage OMIM:618360
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Hydrocephalus, Macroglossia, Brachydactyly, Pun... ORPHA:1914
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, High palate, Overjet, Dental crowding, Persistence of primary teeth, Hypodontia... OMIM:618342
Isovaleric Acidemia
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Cleft palate, Split foot, Short umbilical cord, Aplasia of the p... ORPHA:2369
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Cerebral Visual Impairment
Hydrocephalus, Clumsiness, Cerebral palsy, Intracranial hemorrhage, Oculomotor apraxia, Ischemic ... ORPHA:447788
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Arteriovenous malformation, High-output congestive heart ... ORPHA:90307
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cleft palate, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Tetralogy of Fallot, C... ORPHA:306542
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Partial ... ORPHA:1136
Acrofacial Dysostosis, Palagonia Type
Cleft upper lip, Malar flattening, Short stature, Oligodontia, Scoliosis, Spina bifida occulta at... OMIM:601829
Propionic Acidemia
Cerebellar hemorrhage, Short stature, Limb hypertonia, Pancytopenia, Cardiomyopathy, Neutropenia,... OMIM:606054
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Multiple renal cysts,... ORPHA:66637
Isolated Hemihyperplasia
Myelomeningocele, Abnormality of the dentition, Scoliosis ORPHA:2128
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Abnormal conus terminalis morphology, Vitreous hemorrhage, Cerebral hemorrhage, Hematemes... ORPHA:464321
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Syringomyelia, Spina bifida, Agenesis of c... OMIM:207950
Median cleft lip, Encephalocele, Cleft palate ORPHA:3374
Pagod Syndrome
Short stature, Sudden cardiac death, Multicystic kidney dysplasia, Abnormality of the spleen, Arr... ORPHA:991
Poland Syndrome
Vertebral segmentation defect, Absent hand, Kyphosis, Abnormal morphology of ulna, Hand polydacty... ORPHA:2911
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Hydrocephalus, Narrow mouth, Cleft palate, Holoprosencephaly, Micro... ORPHA:2166
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Hydrocephalus, Cleft palate, Micrognathia, Ventriculomegaly, Meningoencephalocel... OMIM:236670
Adams-Oliver Syndrome 1
Cleft upper lip, Aortic valve stenosis, Cleft palate, Pulmonary artery stenosis, Pulmonic stenosi... OMIM:100300
Rhizomelic Chondrodysplasia Punctata
Growth delay, Short stature, Abnormality of the dentition, Scoliosis, Spina bifida occulta, Rhizo... ORPHA:177
Menkes Disease
Abnormal palate morphology, Hypertonia, Spontaneous hematomas, Abnormal carotid artery morphology... ORPHA:565
Wide mouth, Hydrocephalus, Narrow mouth, Cleft palate, Holoprosencephaly, Macroglossia, Micrognat... ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Cleft palate, Short s... ORPHA:2311
15Q24 Microdeletion Syndrome
Myelomeningocele, Kyphosis, Narrow mouth, Abnormal palate morphology, Abnormality of toe, Short s... ORPHA:94065
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... ORPHA:363654
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Wide mouth, Aortic valve stenosis, C... OMIM:253010
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Pulmonic ste... OMIM:617877
Spinocerebellar Ataxia, Autosomal Recessive 31
High palate, Ataxia, Clinodactyly of the 5th finger, Gingival overgrowth, Retrognathia, Lumbar ky... OMIM:619422
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Short stature, Hemivertebrae, Unilateral vertebr... OMIM:613686
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Hydrocephalus, Ataxia, Stroke, Poor fine motor coordination, Subdural hemor... ORPHA:79282
Phaver Syndrome
Myelomeningocele, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal fo... ORPHA:2876
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Open bite, S... ORPHA:10
Congenital Vertical Talus
Myelomeningocele, Equinus calcaneus, Rocker bottom foot ORPHA:178382
Noonan Syndrome
High palate, Clinodactyly of the 5th finger, Short stature, Abnormal bleeding, Micrognathia, Abno... ORPHA:648
49,Xxxxy Syndrome
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Hol... ORPHA:96264
Orofaciodigital Syndrome I
High palate, Hydrocephalus, Cleft palate, Ovarian cyst, Lobulated tongue, Hepatic cysts, Carious ... OMIM:311200
Three M Syndrome 1
Growth delay, Increased vertebral height, Clinodactyly of the 5th finger, Postnatal growth retard... OMIM:273750
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly, Epiphyseal stippling OMIM:614870
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, High palate, Split foot, Micrognathia, 2-3 finger ... ORPHA:2437
Tempi Syndrome
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Tel... ORPHA:284227
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Hypoplasia of t... OMIM:201000
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Thoracic scoliosis, Dysmetria, Short stature, Small hand, Dysdiadochokinesis, Truncal ataxia, Tho... OMIM:610185
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage ORPHA:98880
Muscle-Eye-Brain Disease
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Meningocele ORPHA:588
Orofaciodigital Syndrome Xiv
Microretrognathia, Supernumerary tooth, Cleft palate, Holoprosencephaly, Preaxial polydactyly, Po... OMIM:615948
Pseudoxanthoma Elasticum, Forme Fruste
High palate, Kyphosis, Angina pectoris, Medial calcification of medium-sized arteries, High, narr... OMIM:177850
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hypertonia, Clinodactyly of the 5th finger, Short stature, Glossoptosis, Multicystic kidney dyspl... ORPHA:2031
Central Neurocytoma
Hydrocephalus, Babinski sign, Abnormal lateral ventricle morphology, Ataxia ORPHA:73256
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Arachnodactyly, Retrognathia, Myoclonus, Syndactyly, Thorac... OMIM:619092
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Calcification of the small brain vessels, Dysdiadochokinesis, Abnormal pyramidal si... OMIM:213600
Atypical Rett Syndrome
Kyphosis, Small hand, Hand apraxia, Pill-rolling tremor, Scoliosis, Stereotypical hand wringing, ... ORPHA:3095
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Intraventricular hemorrhage, Scoliosis, Neonatal death, Spastic tetraplegia, Clonus, I... OMIM:619055
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Ataxia, Tethered cord, Cherry red spot of the macula, Spastic diplegia, Babinski sign, Spina bifi... OMIM:615281
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Tremor, Ventriculomegaly, Neutropenia, Growth delay, Dystonia, Bradycardia OMIM:617248
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Cerebral palsy, Intracranial hemorrhage, Athetosis, Spastic paraplegia, Second degree atrioventri... ORPHA:369929
Lopes-Maciel-Rodan Syndrome
Kyphosis, Hypertonia, Bradykinesia, Small hand, Ankle clonus, Abnormal pyramidal sign, Scoliosis,... OMIM:617435
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Distal Monosomy 10Q
High palate, Ataxia, Prominent fingertip pads, Cleft palate, Tapered finger, Sandal gap, Spastici... ORPHA:96148
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Scoliosis, Parkinsonism, Tremo... ORPHA:521406
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Ventriculomegaly, Thrombocytopenia, Bra... OMIM:617397
Halperin-Birk Syndrome
High palate, Hypertonia, Intrauterine growth retardation, Pseudobulbar paralysis, Micrognathia, S... OMIM:618651
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous h... ORPHA:99827
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Short stature, Cerebral artery atherosclerosis, Hyperlordosis, Tremor, Arterial steno... ORPHA:1192
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia, Agenesis of corpus callosum OMIM:610245
4H Leukodystrophy
Ataxia, Hypodontia, Dysmetria, Short stature, Abnormality of the dentition, Dysdiadochokinesis, D... ORPHA:289494
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Short stature, Myoclonus, C... OMIM:617284
Andersen-Tawil Syndrome
High palate, Periodic paralysis, Abnormality of the dentition, Periodic hypokalemic paresis, Bidi... ORPHA:37553
Joubert Syndrome 39
Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic kidney dysplasia, Oculomot... OMIM:619562
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Wide mouth, Gingival overgrowth,... ORPHA:3219
High palate, Gingival overgrowth, Micrognathia, Myoclonus, Anisopoikilocytosis, Long philtrum, Po... ORPHA:46059
Lateral Meningocele Syndrome
High palate, Kyphosis, Malar flattening, Short stature, Micrognathia, Scoliosis, Biconcave verteb... OMIM:130720
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Cerebellar hemorrhage, Intention... ORPHA:616
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Microretrognathia, Thin vermilion border, Tachycardia, Sc... OMIM:619737
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Scoliosis, Hemiparesis, Parkinsonism, Tremor, Lateral ventricle dilatation, Dystonia ORPHA:306669
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Kyphosis, High palate, Wide mouth, Colpocephaly, Micrognathia,... ORPHA:261250
Classic Homocystinuria
High palate, Kyphosis, Arteriovenous malformation, Hemiplegia/hemiparesis, Subcutaneous hemorrhag... ORPHA:394
Erythrocytosis, Familial, 2
Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, In... OMIM:263400
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Malar flattening, Short stature, Small hand, Micrognath... ORPHA:1787
Constricting Bands, Congenital
Cleft upper lip, Cleft palate, Syndactyly, Scoliosis, Hand polydactyly, Encephalocele OMIM:217100
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Kyphoscoliosis, Ataxia, Bradykinesia, Resting tremor, Small hand, Micrognathia, Babi... OMIM:300055
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Roberts-Sc Phocomelia Syndrome
High palate, Hydrocephalus, Cleft palate, Tetraphocomelia, Cleft upper lip, Micrognathia, Abnorma... OMIM:268300
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, High, narrow palate, Cleft palate, Aortic valve stenosis, Retrognathia, Microgn... ORPHA:2780
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Narrow palate, Subcutaneous hemorrhage, Short statur... ORPHA:109
Telangiectasia of the skin, Ataxia, Lymphopenia, Mucosal telangiectasiae, Short stature, Tremor, ... ORPHA:100
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Genu valgum, Spasticity, Normal pressure hydrocephalus, Spastic ataxia, Micrognathia... ORPHA:300570
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Growth delay, Ataxia, Hypodontia, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis,... OMIM:614381
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Ataxia, Tooth agenesis, Bilateral cleft lip and palate, Non-midline cleft lip, Meningocele, Hip d... ORPHA:2003
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Hemiplegia, Ataxia, Metaphyseal sclerosis, Tremor, Genu valgum, Spasticity, Bowing of the long bo... OMIM:612199
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Long philtrum, Athetosis, Tremor, Cardiomyopathy,... OMIM:617710
Vater/Vacterl Association
Intrauterine growth retardation, Tethered cord, Hypoplasia of the radius, Preaxial polydactyly, S... OMIM:192350
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Tooth agenesis, Microretrognathia, Short stature, Small hand, Abn... ORPHA:1786
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Short stature, Tremor, Decreased circulating antibody level, Gro... OMIM:617744
Leukocyte Adhesion Deficiency
Sinusitis, Abnormality of neutrophil physiology, Leukocytosis, Short stature, Polycythemia, Abnor... ORPHA:2968
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Tooth agenesis, Cervical platyspondyly, Short philtrum, Scoliosis, Macrodontia, Downturned corner... OMIM:618731
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Kyphosis, Wide mouth, Macroglossia, Short stature, Small hand, Brachydactyly, Tremor, Gait ataxia... OMIM:300354
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia, Encephalocele, Patent ductus arteriosus OMIM:618458
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Scoliosis, Long fingers, Tapered finger, Tremor, Hypoplasia of t... OMIM:218000
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Opisthotonus, Abnormal bleeding, Micrognathia, Leukopenia, Myoclonus, Hyperkinetic moveme... OMIM:616271
Pyruvate Dehydrogenase Deficiency
High palate, Ataxia, Cerebral palsy, Abnormal pyramidal sign, Long philtrum, Osteolytic defects o... ORPHA:765
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Delayed eruption of teeth, Carious teeth, Disproportionate short-trunk short statu... OMIM:253200
Lateral Meningocele Syndrome
High palate, Kyphosis, Craniofacial hyperostosis, High, narrow palate, Malar flattening, Microgna... ORPHA:2789
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia of the thumb, Tarsal synostosis ORPHA:3265
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Neutropenia, Thrombocytopenia, Cardiomyopathy OMIM:251000
Fraser Syndrome 1
Myelomeningocele, Cleft upper lip, Hydrocephalus, Dental malocclusion, Cleft palate, Wide pubic s... OMIM:219000
Cerebrocostomandibular Syndrome
Myelomeningocele, Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Short stature, Glossopt... ORPHA:1393
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Sudden cardiac death, Dilated cardiomyopathy,... ORPHA:99901
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Hemiparesis, Vasculitis, Cerebral ischemia, Total anomalous pulm... ORPHA:494424
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Absent thumb, Short stature, Hypoplasia of the radius, Short 1st... OMIM:609053
Chromosome 18Q Deletion Syndrome
Cleft palate, Short philtrum, Secretory IgA deficiency, Chorea, Tremor, Umbilical hernia, Rocker ... OMIM:601808
Superficial Siderosis
Ataxia, Arteriovenous malformation, Persistent bleeding after trauma, Limb ataxia, Dysmetria, Abn... ORPHA:247245
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Hydrocephalus, Short stature, Yellow-brown discoloration of th... ORPHA:1946
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Severe postnatal growth retardation, Micrognathia, Myoclonus, Congenital hip dislocat... ORPHA:3078
Hutchinson-Gilford Progeria Syndrome
High palate, Angina pectoris, Stroke, Impacted tooth, Delayed eruption of teeth, Myocardial infar... ORPHA:740
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Tapered toe, Narrow palate, Arrhythmia, Long fingers, Tapered finger, Polycystic kid... OMIM:608836
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Spina bifida occulta, Finger syndactyly, Short stature ORPHA:1514
Gm1 Gangliosidosis
Ataxia, Abnormality of extrapyramidal motor function, Platyspondyly, Tremor, Abnormal epiphysis m... ORPHA:354
Kyphoscoliotic Ehlers-Danlos Syndrome
High palate, Kyphoscoliosis, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral he... ORPHA:536545
Joubert Syndrome 21
Oculomotor apraxia, Renal cyst, Occipital encephalocele, Ataxia OMIM:615636
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Short stature, Flared iliac wing, Partial duplication of the dist... ORPHA:949
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Diastomatomyelia, Meningocele ORPHA:1759
Classical-Like Ehlers-Danlos Syndrome Type 1
Stroke, Bruising susceptibility, Arrhythmia, Spina bifida occulta, Gastrointestinal hemorrhage, P... ORPHA:230839
Wars2-Related Combined Oxidative Phosphorylation Defect
High palate, Ataxia, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Tremor, Thi... ORPHA:572798
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Stroke, Resting tremor, Short stature, Parkinsonism, Tremor, Lower limb spasticit... ORPHA:3077
22Q11.2 Deletion Syndrome
Hydrocephalus, Cleft palate, Abnormality of the dentition, Short philtrum, Impaired T cell functi... ORPHA:567
Wolfram Syndrome 2
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... OMIM:604928
Caudal Duplication
Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Spina bifida, Spinal cord lesion ORPHA:1756
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Waardenburg Syndrome Type 1
Cleft upper lip, Cleft palate, Scoliosis, Tented upper lip vermilion, Meningocele, Mandibular pro... ORPHA:894
Fraser Syndrome
Myelomeningocele, Vertebral segmentation defect, High palate, Cleft upper lip, Dental malocclusio... ORPHA:2052
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Ataxia, Abnormal pyramidal sign, Incoordination, Spina bifida occulta, Tremor, Oculomotor apraxia... OMIM:618060
Basel-Vanagaite-Smirin-Yosef Syndrome
Cleft palate, Short philtrum, Furrowed tongue, Tented upper lip vermilion, Spasticity, Mandibular... ORPHA:464738
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Hypoplastic pelvis, Spina bifida occulta, Hip dislocation, Slender long bone ORPHA:2840
Witteveen-Kolk Syndrome
High palate, Branchial fistula, Short philtrum, Open mouth, Intrauterine growth retardation, Thic... OMIM:613406
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus ORPHA:1571
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Leukopenia, Macrocytic anemia, Tetraparesis, Choreoathetosis, Anemia, Thromb... ORPHA:27
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Hypodontia, Dysmetria, Short stature, Intention tremor, Babinski ... ORPHA:397946
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Intrauterine growth retardation, Radial bowing, High, narrow p... ORPHA:2879
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage, Platyspondyly, Scoliosis, Thin metacarpal cortices, V... OMIM:616507
Combined Oxidative Phosphorylation Defect Type 39
Leg dystonia, Ankle clonus, Limb hypertonia, Babinski sign, Scoliosis, Prominent calcaneus, Later... ORPHA:565624
Frontofacionasal Dysplasia
Cleft upper lip, Malar flattening, Bifid uvula, Oral cleft, Cranium bifidum occultum, Hypoplasia ... OMIM:229400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Knobloch Syndrome 1
Occipital meningocele, Ataxia, Spina bifida occulta, Patent ductus arteriosus, Ventriculomegaly, ... OMIM:267750
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microdontia, Colpocephaly, Agenesis of corpus callosum, Dilation of V... OMIM:619955
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Neuronal Intranuclear Inclusion Disease
Hypertonia, Ataxia, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta ORPHA:2289
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Kyphosis, Ataxia, Scoliosis, Tremor ORPHA:99014
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, High palate, Ataxia, Long philtrum, Spasticity, Open mouth, Thin upper lip vermilion OMIM:617854
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Ataxia, Neutropenia in presence of ant... OMIM:613179
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:403
Posterior Meningocele
Occipital meningocele, Hypertonia, Hydrocephalus, Tethered cord, Upper limb spasticity, Neural tu... ORPHA:268810
Familial Hyperaldosteronism Type Iii
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval ORPHA:251274
Familial Hyperaldosteronism Type Ii
Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage,... ORPHA:340
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele ORPHA:3456
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Transient ischemic attack, Neutrophilia, Leukocytosis, Splenomegaly,... ORPHA:3260
Mosaic Trisomy 1
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Complete duplication of thu... ORPHA:1692
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypodontia, Dysmetria, Short stature, Oligodontia, Babinski sign, Tremor, Spasticity, Del... OMIM:607694
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Cleft palate, Malar flattening, Short stature, Spina bifida occulta, Abnormal di... OMIM:268850
Kohlschutter-Tonz Syndrome-Like
Ataxia, Delayed eruption of teeth, Carious teeth, Tremor, Yellow-brown discoloration of the teeth... OMIM:619229
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Cleft palate, Scoliosis, Spina bifida occult... ORPHA:1797
Trisomy 8Q
Myelomeningocele, High palate, Cleft palate, Everted lower lip vermilion, Micrognathia, Camptodac... ORPHA:1752
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Kyphosis, High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Dent... OMIM:617061
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Narrow mouth, Short stature, Thin vermilion border, Short philtrum, Sc... OMIM:617360
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ataxia, Tapered finger, Tremor, Mandibular prognathia, Intrauterine growth retardation, Clinodact... OMIM:300998
Joubert Syndrome 5
Ataxia, Renal cortical cysts, Cleft palate, Oculomotor apraxia, Occipital encephalocele OMIM:610188
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Cleft palate, Intraventricular hemorrhage, Stomatitis, Glossitis, Neutropen... ORPHA:79284
Viss Syndrome
High palate, Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Genu valgu... OMIM:619472
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... OMIM:200990
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
48,Xxxy Syndrome
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Ope... ORPHA:96263
Autosomal Recessive Spastic Paraplegia Type 66
Limb hypertonia, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Colpocephaly ORPHA:401815
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... OMIM:105550
Bilateral Generalized Polymicrogyria
Motor stereotypy, Growth delay, Short stature, Oculogyric crisis, Lateral ventricle dilatation, S... ORPHA:208447
Acute Liver Failure
Hepatocellular necrosis, Ataxia, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrh... ORPHA:90062
Craniofacial Microsomia
Wide mouth, Hydrocephalus, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Genu valgum,... OMIM:164210
Orofaciodigital Syndrome Type 1
High palate, Ataxia, Cleft palate, Abnormality of the dentition, Cone-shaped epiphysis, Lobulated... ORPHA:2750
Ataxia, Progressive cerebellar ataxia, Tremor, Leukemia, Slurred speech, Decreased circulating Ig... OMIM:208900
Intrauterine growth retardation, Short stature, Short tibia, Aplasia/hypoplasia involving bones o... ORPHA:356961
Cockayne Syndrome Type 3
Kyphosis, Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Splenomegaly, I... ORPHA:90324
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Hip dysplasia, Scoliosis OMIM:302802
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Prominent fingertip pads, Open mouth, Calcaneovalgus deformity, Scoliosis, Hyperlo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Prominent fingertip pads, Open mouth, Calcaneovalgus deformity, Scoliosis, Hyperlo... ORPHA:363958
Riddle Syndrome
Decreased circulating IgA level, Ataxia, Clumsiness, Decreased circulating IgG level, Short statu... ORPHA:420741
Ataxia With Vitamin E Deficiency
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... ORPHA:96
Hellp Syndrome
Cerebral hemorrhage, Hypotension, Hemolytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:244242
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Scoliosis, Agenesis of corpus callosum, Spina bifida occulta OMIM:618736
Weiss-Kruszka Syndrome
Clinodactyly of the 5th finger, Dextrotransposition of the great arteries, Ventriculomegaly, Exag... OMIM:618619
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Deep philtrum, Abnormal palate morphology, ... ORPHA:2475
Dubowitz Syndrome
High palate, Wide mouth, Hydrocephalus, Abnormality of the dentition, Delayed eruption of teeth, ... ORPHA:235
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Short stature, Oculogyric crisis, Scoliosis, Chorea, Lateral ventricle dilatati... ORPHA:178469
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Gait ataxia, Spasticity, Poor... ORPHA:1170
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Oculodentodigital Dysplasia
Paraparesis, Ataxia, Cleft palate, Microdontia, Carious teeth, Spasticity, Selective tooth agenes... OMIM:164200
Malan Overgrowth Syndrome
High palate, Narrow mouth, Scoliosis, Slender long bone, Lateral ventricle dilatation, Ventriculo... ORPHA:420179
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Myelomeningocele, High palate, Thick upper lip vermilion, Butterfly vertebrae, Gingival overgrowt... OMIM:607330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Delayed eruption of teeth, Pericardial lymphangiectasia, Umbil... OMIM:235510
Arthrogryposis, Distal, Type 2A
High palate, Kyphoscoliosis, Narrow mouth, Postnatal growth retardation, Pursed lips, Malar flatt... OMIM:193700
Khan-Khan-Katsanis Syndrome
Hypertonia, Intrauterine growth retardation, Triangular mouth, Tricuspid regurgitation, Postaxial... OMIM:618460
Postnatal growth retardation, Opisthotonus, Abnormal internal carotid artery morphology, Spastic ... ORPHA:2177
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Babinski sign, Frequent falls, Tremor, Incoordination OMIM:302800
Gluteal Muscles, Absence Of
Scoliosis, Spina bifida occulta OMIM:231970
Craniosynostosis 6
Dandy-Walker malformation, Scoliosis, Agenesis of corpus callosum, Spina bifida occulta OMIM:616602
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Clinodactyl... OMIM:300373
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Prader-Willi Syndrome Due To Translocation
High palate, Wide mouth, Cleft palate, Clinodactyly of the 4th finger, Carious teeth, Intrauterin... ORPHA:177907
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Hepatosplenomegaly, Pulmonary hemorrhage, Hemiparesis, T lymphocytopenia, Pancytopen... ORPHA:79124
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Micrognathia, Myoclonus, Lateral ventricle dilatation, Spastic tetraparesis, Intraute... ORPHA:284417
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Short stature, Hypoplastic... OMIM:169550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Myelopathy, Rigidity, Tetraparesis, Tremor, Ventriculomegaly, Cervical myelo... OMIM:617186
Sprengel Deformity
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta OMIM:184400
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Thin vermilion border, Short philtrum, Spina bifida occulta, Downturned corners of mout... ORPHA:2983
Marfan Syndrome
Cleft palate, Aortic tortuosity, High, narrow palate, Retrognathia, Micrognathia, Scoliosis, Pulm... ORPHA:558
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Wide mouth, Short stature, Coarctation of aorta, Deep philtrum, Renal cyst, Pate... OMIM:617260
Spondylosis, Cervical
Cervical spondylosis, Spina bifida occulta OMIM:184300
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Kyphoscoliosis, Arteriovenous malformation, Spinal arteriovenous malformation, Abnor... ORPHA:53721
Lateral ventricle dilatation, Abnormal third ventricle morphology, Oral cleft ORPHA:141091
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Telangiectasia of the skin, Clinod... ORPHA:52
Hypertonia, Ataxia, Stereotypical body rocking, Arachnodactyly, Intracranial hemorrhage, Scoliosi... ORPHA:86309
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:231625
Smith-Lemli-Opitz Syndrome
Dental crowding, Hydrocephalus, Cleft palate, Broad alveolar ridges, Hammertoe, Hip subluxation, ... OMIM:270400
Incontinentia Pigmenti
Telangiectasia of the skin, Delayed eruption of teeth, Spasticity, Umbilical hernia, Scoliosis, P... ORPHA:464
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Hypertonia, Subdural hemorrhage, Short stature, Mandibular prognathia, Thin upper lip vermilion, ... OMIM:619714
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Ataxia, Microretrognathia, Intention tremor, Long philtrum, Neonatal death, Arrhyth... OMIM:614052
Loeys-Dietz Syndrome 3
High palate, Tortuous cerebral arteries, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage... OMIM:613795
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Cervical spondylosis, Spastic paraplegia ORPHA:101005
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, Babinski sign, Facial... OMIM:175780
Cach Syndrome
Dysmetria, Limb ataxia, Spastic diplegia, Hepatosplenomegaly, Truncal ataxia, Hemiparesis, Latera... ORPHA:135
Joubert Syndrome 1
Ataxia, Macroglossia, Hemifacial spasm, Postaxial hand polydactyly, Renal cyst, Triangular-shaped... OMIM:213300
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Scol... OMIM:617013
Wolfram Syndrome 1
Megaloblastic anemia, Ataxia, Limited mobility of proximal interphalangeal joint, Thrombocytopeni... OMIM:222300
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Spina bifida occulta, Slender long bone, Downturned corners of mouth, Thick vermil... ORPHA:1185
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia, Atrophy of the spinal cord, Tremor, Fascicula... ORPHA:99965
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, ... ORPHA:79243
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Extrapyramidal muscular rigidity, Abnormality of extrapyram... ORPHA:51
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Butterfly vertebrae, Alobar holoprosencephaly, Median cleft palate... OMIM:301043
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Abnormality of the sphenoid sinus, Intracranial hemorrhage ORPHA:91350
Tibial Hemimelia
Cleft palate, Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Absent hallux, Poly... ORPHA:93322
Isotretinoin Syndrome
Micrognathia, Cleft palate, Spina bifida occulta ORPHA:2305
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Macroglossia, Splenomegaly, Subarachnoid he... OMIM:232300
Zimmermann-Laband Syndrome 1
High palate, Wide mouth, Short philtrum, Delayed eruption of teeth, Aortic root aneurysm, Umbilic... OMIM:135500
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Focal Dermal Hypoplasia
Hydrocephalus, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth, Umbilical her... OMIM:305600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Abnormal subclavian artery morphology, Carious teeth, Broad hallux, Intrauterine gro... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Abnormal subclavian artery morphology, Carious teeth, Broad hallux, Intrauterine gro... ORPHA:353277
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Paraparesis, Premature loss of teeth, Short femur, Femor... OMIM:602080
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Kyphosis, High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Erup... ORPHA:476126
3Mc Syndrome 1
Cleft upper lip, Growth delay, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft pala... OMIM:257920
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, High palate, Ataxia, Contracture of the proximal interphalangeal joint of the 4... ORPHA:457279
Rubinstein-Taybi Syndrome 1
High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Broad hallux, Hypoplasia of... OMIM:180849
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Ataxia, Decreased circulating IgA level, Decreased circulating IgG level, Dysmetria, In... OMIM:212065
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Low-to-normal blood pressure, Short stature OMIM:241200
Chediak-Higashi Syndrome
Ataxia, Periodontitis, Hemophagocytosis, Splenomegaly, Bruising susceptibility, Abnormal dense gr... OMIM:214500
Cockayne Syndrome A
Ataxia, Square pelvis bone, Carious teeth, Hypoplastic pelvis, Tremor, Mandibular prognathia, Hyp... OMIM:216400